#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
KAT6A	7994	broad.mit.edu	37	8	41790659	41790659	+	Silent	SNP	T	T	G			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.|Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ggggagggggtgggggtggag	0.627																																						ENST00000396930.3																			0											c.(5077-5079)ccA>ccC		K(lysine) acetyltransferase 6A							16.0	18.0	18.0					8																	41790659		2196	4293	6489	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790659T>G	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5079A>C	8.37:g.41790659T>G						KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5622	-			1693			Gln/Pro-rich.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.5079A>C	CCDS6124.1																																																																																				0.627	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		11	146	0	0	0	1	0	11	146				
CDH26	60437	broad.mit.edu	37	20	58563985	58563985	+	Silent	SNP	G	G	A	rs373864822		TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr20:58563985G>A	ENST00000244047.5	+	9	1361	c.1050G>A	c.(1048-1050)gcG>gcA	p.A350A	CDH26_ENST00000348616.4_Silent_p.A350A			Q8IXH8	CAD26_HUMAN	cadherin 26	350	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CTCGCCCAGCGCAAAGCCTCA	0.572																																						ENST00000348616.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(1048-1050)gcG>gcA		cadherin 26		G		1,4405	2.1+/-5.4	0,1,2202	53.0	57.0	56.0		1050	-10.8	0.0	20		56	0,8600		0,0,4300	no	coding-synonymous	CDH26	NM_177980.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		350/833	58563985	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58563985G>A	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1050G>A	20.37:g.58563985G>A						CDH26_ENST00000244047.5_Silent_p.A350A	p.A350A	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		9	1350	+	all_lung(29;0.00963)		350			Cadherin 3.		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Silent	SNP	ENST00000244047.5	37	c.1050G>A																																																																																					0.572	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		5	376	0	0	0	1	0	5	376				
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																0							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		5	303	0	0	0	1	0	5	303				
ESYT1	23344	broad.mit.edu	37	12	56525276	56525276	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr12:56525276C>T	ENST00000394048.5	+	6	994	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	ESYT1_ENST00000541590.1_Missense_Mutation_p.R244W|ESYT1_ENST00000267113.4_Missense_Mutation_p.R244W|RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	244	Glycerophospholipid-binding barrel-like domain. {ECO:0000250}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TGGCGTTTTGCGGGTGATACT	0.517																																						ENST00000394048.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						c.(730-732)Cgg>Tgg		extended synaptotagmin-like protein 1							192.0	199.0	197.0					12																	56525276		2203	4300	6503	SO:0001583	missense	23344					integral to membrane		g.chr12:56525276C>T	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.730C>T	12.37:g.56525276C>T	ENSP00000377612:p.Arg244Trp					ESYT1_ENST00000541590.1_Missense_Mutation_p.R244W|ESYT1_ENST00000267113.4_Missense_Mutation_p.R244W	p.R244W	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN			6	994	+			244					A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	c.730C>T	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.426900	0.62733	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	D;D;D	0.82619	-1.63;-1.63;-1.63	5.78	4.85	0.62838	.	0.113750	0.64402	D	0.000016	D	0.91630	0.7355	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.92360	0.5896	10	0.87932	D	0	-26.1118	15.8705	0.79117	0.1355:0.8644:0.0:0.0	.	244;244	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	W	244;198;244;244	ENSP00000377612:R244W;ENSP00000267113:R244W;ENSP00000445952:R244W	ENSP00000267113:R244W	R	+	1	2	ESYT1	54811543	1.000000	0.71417	1.000000	0.80357	0.092000	0.18411	2.663000	0.46774	2.906000	0.99361	0.655000	0.94253	CGG		0.517	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		9	1544	0	0	0	1	0	9	1544				
FBXO46	23403	broad.mit.edu	37	19	46215179	46215179	+	Silent	SNP	G	G	A			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr19:46215179G>A	ENST00000317683.3	-	2	1708	c.1575C>T	c.(1573-1575)taC>taT	p.Y525Y		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	525										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GATCATCGCGGTAGAGCGGGT	0.647																																						ENST00000317683.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15						c.(1573-1575)taC>taT		F-box protein 46							44.0	47.0	46.0					19																	46215179		2128	4235	6363	SO:0001819	synonymous_variant	23403						protein binding	g.chr19:46215179G>A	BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"""F-boxes /  ""other"""""	25069	protein-coding gene	gene with protein product		609117	"""F-box only protein 34-like"""	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.1575C>T	19.37:g.46215179G>A							p.Y525Y	NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)	2	1708	-		Ovarian(192;0.179)|all_neural(266;0.224)	525						Silent	SNP	ENST00000317683.3	37	c.1575C>T	CCDS46116.1																																																																																				0.647	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459661.1	XM_371179		4	192	0	0	0	1	0	4	192				
RNF216	54476	broad.mit.edu	37	7	5754712	5754712	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr7:5754712G>A	ENST00000425013.2	-	11	1858	c.1634C>T	c.(1633-1635)gCc>gTc	p.A545V	RNF216_ENST00000389902.3_Missense_Mutation_p.A602V	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	545					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TGCCTCTTGGGCATATCTGAT	0.463																																						ENST00000425013.2																		FBXL18/RNF216(2)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33						c.(1633-1635)gCc>gTc		ring finger protein 216							170.0	155.0	160.0					7																	5754712		2203	4300	6503	SO:0001583	missense	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr7:5754712G>A	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.1634C>T	7.37:g.5754712G>A	ENSP00000404602:p.Ala545Val					RNF216_ENST00000389902.3_Missense_Mutation_p.A602V	p.A545V	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	11	1858	-		Ovarian(82;0.07)	545					Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	c.1634C>T	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	G	32	5.133024	0.94517	.	.	ENSG00000011275	ENST00000425013;ENST00000389902;ENST00000458425	T;T	0.32272	1.46;1.46	5.87	5.87	0.94306	.	0.057971	0.64402	D	0.000001	T	0.42245	0.1194	N	0.20845	0.615	0.80722	D	1	B;D	0.76494	0.302;0.999	B;D	0.73708	0.162;0.981	T	0.17289	-1.0374	10	0.33940	T	0.23	-12.4821	19.1965	0.93691	0.0:0.0:1.0:0.0	.	545;602	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	V	545;602;357	ENSP00000404602:A545V;ENSP00000374552:A602V	ENSP00000374552:A602V	A	-	2	0	RNF216	5721238	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.342000	0.97044	2.774000	0.95407	0.650000	0.86243	GCC		0.463	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		6	697	0	0	0	1	0	6	697				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	6	164	0	0	0	1	0	6	164				
ZNF692	55657	broad.mit.edu	37	1	249150605	249150605	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr1:249150605G>A	ENST00000306601.4	-	6	707	c.541C>T	c.(541-543)Cca>Tca	p.P181S	ZNF692_ENST00000366471.3_Intron|ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000451251.1_Missense_Mutation_p.P186S|ZNF692_ENST00000366469.5_Missense_Mutation_p.P181S|ZNF692_ENST00000427146.1_Intron|AL672294.1_ENST00000417047.1_RNA	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			AAGGTCTCTGGTGGGGGTCCC	0.557																																						ENST00000451251.1																			0				endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17						c.(556-558)Cca>Tca		zinc finger protein 692							168.0	143.0	152.0					1																	249150605		2203	4300	6503	SO:0001583	missense	55657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249150605G>A	BC002948	CCDS31127.1, CCDS44348.1, CCDS53487.1	1q44	2013-01-08			ENSG00000171163	ENSG00000171163		"""Zinc fingers, C2H2-type"""	26049	protein-coding gene	gene with protein product						12477932	Standard	NM_001136036		Approved	FLJ20531, Zfp692	uc001ifc.2	Q9BU19	OTTHUMG00000040423	ENST00000306601.4:c.541C>T	1.37:g.249150605G>A	ENSP00000305483:p.Pro181Ser					ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000366469.5_Missense_Mutation_p.P181S|ZNF692_ENST00000427146.1_Intron|ZNF692_ENST00000306601.4_Missense_Mutation_p.P181S|ZNF692_ENST00000366471.3_Intron	p.P186S	NM_001136036.2	NP_001129508.1	Q9BU19	ZN692_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		6	901	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	181					B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Missense_Mutation	SNP	ENST00000306601.4	37	c.556C>T	CCDS31127.1	.	.	.	.	.	.	.	.	.	.	G	8.124	0.781489	0.16120	.	.	ENSG00000171163	ENST00000306601;ENST00000366469;ENST00000451251	T;T;T	0.07216	3.23;3.22;3.21	4.07	-0.0608	0.13788	.	0.689733	0.13108	N	0.413162	T	0.06645	0.0170	L	0.51422	1.61	0.09310	N	1	B;B	0.18013	0.025;0.025	B;B	0.12837	0.008;0.008	T	0.43015	-0.9417	10	0.17369	T	0.5	-0.8025	4.3491	0.11146	0.2141:0.3718:0.4141:0.0	.	186;181	B4DXZ0;Q9BU19	.;ZN692_HUMAN	S	181;181;186	ENSP00000305483:P181S;ENSP00000355425:P181S;ENSP00000391200:P186S	ENSP00000305483:P181S	P	-	1	0	ZNF692	247117228	0.002000	0.14202	0.000000	0.03702	0.980000	0.70556	0.659000	0.24994	0.006000	0.14734	-0.359000	0.07587	CCA		0.557	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097298.1	NM_017865		42	48	0	0	0	1	0	42	48				
DPY19L2P2	349152	broad.mit.edu	37	7	102916042	102916042	+	RNA	SNP	T	T	C			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr7:102916042T>C	ENST00000312132.4	-	0	737							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										AGAGAAATGATGATCATTTTC	0.284																																						ENST00000312132.4																			0																																																			0							g.chr7:102916042T>C	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102916042T>C														0	737	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.284	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		4	153	0	0	0	1	0	4	153				
GALNT18	374378	broad.mit.edu	37	11	11354301	11354301	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr11:11354301C>A	ENST00000227756.4	-	8	1767	c.1356G>T	c.(1354-1356)tgG>tgT	p.W452C		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	452					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										TGACCAGGTACCACCGGAAGG	0.542																																						ENST00000227756.4																			0											c.(1354-1356)tgG>tgT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18							123.0	96.0	105.0					11																	11354301		2201	4294	6495	SO:0001583	missense	374378							g.chr11:11354301C>A	AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	30488	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 18"""	615136	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"""	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.1356G>T	11.37:g.11354301C>A	ENSP00000227756:p.Trp452Cys						p.W452C	NM_198516.2	NP_940918.2					8	1767	-								O95903|Q8NDY9	Missense_Mutation	SNP	ENST00000227756.4	37	c.1356G>T	CCDS7807.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430237	0.83776	.	.	ENSG00000110328	ENST00000227756	D	0.92446	-3.04	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.97864	0.9298	H	0.98487	4.245	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.99320	1.0906	10	0.87932	D	0	.	18.0372	0.89308	0.0:1.0:0.0:0.0	.	452	Q6P9A2	GLTL4_HUMAN	C	452	ENSP00000227756:W452C	ENSP00000227756:W452C	W	-	3	0	GALNTL4	11310877	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.609000	0.88269	0.655000	0.94253	TGG		0.542	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1	NM_198516		94	92	1	0	2.0191e-50	1	2.18864e-50	94	92				
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G	rs570843986	byFrequency	TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		14619	0.002		0.0	False		,,,				2504	0.0					ENST00000280665.6																			8	Substitution - Missense(8)	p.Q252H(8)	endometrium(5)|lung(2)|large_intestine(1)	NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(754-756)caG>caC		decapping mRNA 1B							35.0	42.0	40.0					12																	2062350		2203	4300	6503	SO:0001583	missense	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2062350C>G	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.756G>C	12.37:g.2062350C>G	ENSP00000280665:p.Gln252His					DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H	p.Q252H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		7	835	-			252			Poly-Gln.		B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.756G>C	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.361713	0.01235	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.19250	2.19;2.17;2.16	4.04	-8.09	0.01090	.	1.568620	0.03045	N	0.153823	T	0.13072	0.0317	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15694	-1.0428	10	0.17369	T	0.5	.	12.662	0.56820	0.0881:0.1213:0.7178:0.0728	.	150;252	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	H	252;150;126	ENSP00000280665:Q252H;ENSP00000380358:Q150H;ENSP00000444374:Q126H	ENSP00000280665:Q252H	Q	-	3	2	DCP1B	1932611	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.268000	0.02836	-2.090000	0.00859	-2.175000	0.00321	CAG		0.552	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		7	227	0	0	0	1	0	7	227				
RNF181	51255	broad.mit.edu	37	2	85822895	85822895	+	Silent	SNP	C	C	T			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr2:85822895C>T	ENST00000306368.4	+	1	39	c.9C>T	c.(7-9)tcC>tcT	p.S3S	RNF181_ENST00000441634.1_Silent_p.S3S	NM_016494.3	NP_057578.1	Q9P0P0	RN181_HUMAN	ring finger protein 181	3					protein autoubiquitination (GO:0051865)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			lung(1)|stomach(1)	2						CCATGGCGTCCTATTTCGATG	0.637																																						ENST00000441634.1																			0				lung(1)|stomach(1)	2						c.(7-9)tcC>tcT		ring finger protein 181							41.0	35.0	37.0					2																	85822895		2203	4300	6503	SO:0001819	synonymous_variant	51255						ligase activity|zinc ion binding	g.chr2:85822895C>T	AF151072	CCDS1981.1	2p11.2	2013-01-09			ENSG00000168894	ENSG00000168894		"""RING-type (C3HC4) zinc fingers"""	28037	protein-coding gene	gene with protein product		612490				11042152	Standard	XM_005264359		Approved	HSPC238	uc002spv.1	Q9P0P0	OTTHUMG00000130182	ENST00000306368.4:c.9C>T	2.37:g.85822895C>T						RNF181_ENST00000306368.4_Silent_p.S3S	p.S3S			Q9P0P0	RN181_HUMAN			1	48	+			3					Q53H81	Silent	SNP	ENST00000306368.4	37	c.9C>T	CCDS1981.1																																																																																				0.637	RNF181-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252500.1	NM_016494		39	56	0	0	0	1	0	39	56				
DNM1P47	100216544	broad.mit.edu	37	15	102304884	102304884	+	RNA	SNP	G	G	C	rs192934815		TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr15:102304884G>C	ENST00000561463.1	+	0	12930									DNM1 pseudogene 47																		GCGTGGGAACGAGAAGACACT	0.562																																						ENST00000561463.1																			0																																																			0							g.chr15:102304884G>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304884G>C														0	12930	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.562	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	71	0	0	0	1	0	3	71				
PCDH10	57575	broad.mit.edu	37	4	134072496	134072496	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr4:134072496G>A	ENST00000264360.5	+	1	2027	c.1201G>A	c.(1201-1203)Gtg>Atg	p.V401M	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	401	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ACTGGGAGACGTGCCTTTCCG	0.607																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(1201-1203)Gtg>Atg		protocadherin 10							139.0	140.0	140.0					4																	134072496		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072496G>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1201G>A	4.37:g.134072496G>A	ENSP00000264360:p.Val401Met						p.V401M	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2027	+			401			Cadherin 4.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1201G>A	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.437720	0.43224	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.51817	0.69	4.68	4.68	0.58851	Cadherin (4);Cadherin-like (1);	0.000000	0.40818	N	0.001004	T	0.66973	0.2844	M	0.76574	2.34	0.53005	D	0.999962	D;B	0.61080	0.989;0.321	P;B	0.62184	0.899;0.153	T	0.72097	-0.4393	10	0.72032	D	0.01	.	17.3997	0.87456	0.0:0.0:1.0:0.0	.	401;401	Q9P2E7;Q96SF0	PCD10_HUMAN;.	M	401	ENSP00000264360:V401M	ENSP00000264360:V401M	V	+	1	0	PCDH10	134291946	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.674000	0.83992	2.423000	0.82170	0.561000	0.74099	GTG		0.607	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		7	1025	0	0	0	1	0	7	1025				
SNAP47	116841	broad.mit.edu	37	1	227935771	227935771	+	Missense_Mutation	SNP	G	G	A	rs140772937		TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr1:227935771G>A	ENST00000366759.4	+	2	883	c.469G>A	c.(469-471)Gca>Aca	p.A157T	SNAP47-AS1_ENST00000413347.2_RNA|SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000315781.5_Missense_Mutation_p.A157T	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	157	t-SNARE coiled-coil homology 1. {ECO:0000255|PROSITE-ProRule:PRU00202}.				long-term synaptic potentiation (GO:0060291)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CGTGGCAGACGCATCTGTCCC	0.632																																						ENST00000366759.4																			0				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(469-471)Gca>Aca		synaptosomal-associated protein, 47kDa		G	THR/ALA	0,4406		0,0,2203	47.0	44.0	45.0		469	-8.2	0.0	1	dbSNP_134	45	1,8599	1.2+/-3.3	0,1,4299	no	missense	SNAP47	NM_053052.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	157/465	227935771	1,13005	2203	4300	6503	SO:0001583	missense	116841					endomembrane system|membrane|perinuclear region of cytoplasm		g.chr1:227935771G>A	AY090635	CCDS1562.1	1q42.13	2013-10-11	2008-10-27	2008-10-27	ENSG00000143740	ENSG00000143740			30669	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 142"""	C1orf142		16621800	Standard	NM_053052		Approved	SVAP1, SNAP-47	uc001hrf.2	Q5SQN1	OTTHUMG00000037697	ENST00000366759.4:c.469G>A	1.37:g.227935771G>A	ENSP00000355721:p.Ala157Thr					SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000315781.5_Missense_Mutation_p.A157T	p.A157T	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN			2	883	+			157			t-SNARE coiled-coil homology 1.		B6EDE0|Q5HYB5|Q5TBZ3|Q8N558|Q8TB31|Q8TCW8|Q8WV46|Q96CQ3|Q96FE1|Q96I66|Q96NU3|Q9BT10|Q9BVB2	Missense_Mutation	SNP	ENST00000366759.4	37	c.469G>A	CCDS1562.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.299|0.299	-0.975214|-0.975214	0.02215|0.02215	0.0|0.0	1.16E-4|1.16E-4	ENSG00000143740|ENSG00000143740	ENST00000366759;ENST00000315781|ENST00000426344	T;T|.	0.43294|.	0.95;0.95|.	4.1|4.1	-8.19|-8.19	0.01049|0.01049	.|.	0.998350|.	0.08105|.	N|.	0.997028|.	T|T	0.18593|0.18593	0.0446|0.0446	L|L	0.33485|0.33485	1.01|1.01	0.09310|0.09310	N|N	1|1	B;B|.	0.16396|.	0.017;0.017|.	B;B|.	0.06405|.	0.002;0.002|.	T|T	0.19976|0.19976	-1.0289|-1.0289	10|5	0.37606|.	T|.	0.19|.	-13.2486|-13.2486	0.7418|0.7418	0.00975|0.00975	0.3408:0.1803:0.2846:0.1943|0.3408:0.1803:0.2846:0.1943	.|.	157;157|.	Q5SQN1;Q5SQN1-2|.	SNP47_HUMAN;.|.	T|H	157|148	ENSP00000355721:A157T;ENSP00000314157:A157T|.	ENSP00000314157:A157T|.	A|R	+|+	1|2	0|0	SNAP47|SNAP47	226002394|226002394	0.002000|0.002000	0.14202|0.14202	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	1.165000|1.165000	0.31822|0.31822	-2.007000|-2.007000	0.00956|0.00956	-2.149000|-2.149000	0.00334|0.00334	GCA|CGC		0.632	SNAP47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091961.1	NM_053052		93	78	0	0	0	1	0	93	78				
TRAPPC10	7109	broad.mit.edu	37	21	45522763	45522763	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr21:45522763C>T	ENST00000291574.4	+	22	3626	c.3451C>T	c.(3451-3453)Ccg>Tcg	p.P1151S		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1151					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GGAAGTGATGCCGCTCTTCGC	0.592																																						ENST00000291574.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.(3451-3453)Ccg>Tcg		trafficking protein particle complex 10							129.0	115.0	120.0					21																	45522763		2203	4300	6503	SO:0001583	missense	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45522763C>T	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.3451C>T	21.37:g.45522763C>T	ENSP00000291574:p.Pro1151Ser						p.P1151S	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN			22	3626	+			1151					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	c.3451C>T	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675195	0.88445	.	.	ENSG00000160218	ENST00000291574;ENST00000542855	D	0.83673	-1.75	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.90366	0.6985	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90932	0.4791	10	0.87932	D	0	.	19.3933	0.94594	0.0:1.0:0.0:0.0	.	410;1151	B4DI17;P48553	.;TPC10_HUMAN	S	1151;282	ENSP00000291574:P1151S	ENSP00000291574:P1151S	P	+	1	0	TRAPPC10	44347191	1.000000	0.71417	0.999000	0.59377	0.575000	0.36095	7.511000	0.81718	2.643000	0.89663	0.650000	0.86243	CCG		0.592	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		5	473	0	0	0	1	0	5	473				
DAXX	1616	broad.mit.edu	37	6	33287900	33287900	+	Silent	SNP	C	C	T			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr6:33287900C>T	ENST00000374542.5	-	5	1557	c.1353G>A	c.(1351-1353)gaG>gaA	p.E451E	DAXX_ENST00000414083.2_Silent_p.E376E|DAXX_ENST00000266000.6_Silent_p.E451E|DAXX_ENST00000477162.1_5'UTR|ZBTB22_ENST00000431845.2_5'Flank|ZBTB22_ENST00000418724.1_5'Flank	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	451	Asp/Glu-rich (acidic).|Necessary for interaction with USP7.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.E451E(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						cttcttcttcctcctcctcct	0.557			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																	ENST00000374542.5				Rec	yes		6	6p21.3	1616	"""Mis, F, N"""	death-domain associated protein			E			Pancreatic neuroendocrine tumors. Paediatric GBM		2	Substitution - coding silent(2)	p.E451E(2)	prostate(1)|kidney(1)	breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						c.(1351-1353)gaG>gaA		death-domain associated protein							127.0	100.0	109.0					6																	33287900		2203	4300	6503	SO:0001819	synonymous_variant	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33287900C>T	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.1353G>A	6.37:g.33287900C>T						DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000266000.6_Silent_p.E451E|DAXX_ENST00000414083.2_Silent_p.E376E	p.E451E	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN			5	1557	-			451			Asp/Glu-rich (acidic).|Necessary for interaction with USP7.		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Silent	SNP	ENST00000374542.5	37	c.1353G>A	CCDS4776.1																																																																																				0.557	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			4	138	0	0	0	1	0	4	138				
IGKV1D-8	28904	broad.mit.edu	37	2	90259784	90259784	+	RNA	SNP	G	G	T			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr2:90259784G>T	ENST00000471857.1	+	0	192									immunoglobulin kappa variable 1D-8																		ATGGACATGAGGGTCCCCGCT	0.552																																						ENST00000471857.1																			0																				139.0	147.0	145.0					2																	90259784		1233	2543	3776			0							g.chr2:90259784G>T	Z00008		2p11.2	2012-02-08			ENSG00000239819	ENSG00000239819		"""Immunoglobulins / IGK locus"""	5759	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151570		2.37:g.90259784G>T														0	192	+									RNA	SNP	ENST00000471857.1	37																																																																																						0.552	IGKV1D-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323145.2	NG_000833		6	686	1	0	1.5842e-08	1	1.65409e-08	6	686				
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T	rs558255572		TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	62								p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333													.|||	1	0.000199681	0.0	0.0014	5008	,	,		30607	0.0		0.0	False		,,,				2504	0.0					ENST00000278882.3																			2	Substitution - Missense(2)	p.D62V(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(184-186)gAt>gTt																																						SO:0001583	missense	0							g.chr20:29625941A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.185A>T	20.37:g.29625941A>T	ENSP00000278882:p.Asp62Val					FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V	p.D62V							5	565	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.185A>T		.	.	.	.	.	.	.	.	.	.	a	11.46	1.644922	0.29246	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.55930	0.49	1.68	1.68	0.24146	.	0.000000	0.85682	U	0.000000	T	0.67316	0.2880	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.68300	-0.5445	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	67	F5H5R5	.	V	62;67;62	ENSP00000408863:D67V	ENSP00000278882:D62V	D	+	2	0	FRG1B	28239602	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	7.682000	0.84083	1.028000	0.39785	0.155000	0.16302	GAT		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		24	519	0	0	0	1	0	24	519				
LRFN5	145581	broad.mit.edu	37	14	42356192	42356192	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr14:42356192C>T	ENST00000298119.4	+	3	1553	c.364C>T	c.(364-366)Ctt>Ttt	p.L122F	LRFN5_ENST00000554171.1_Missense_Mutation_p.L122F|LRFN5_ENST00000554120.1_Missense_Mutation_p.L122F	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	122						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GTTCAGTGGTCTTTCCAATCT	0.383										HNSCC(30;0.082)																												ENST00000554171.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(364-366)Ctt>Ttt		leucine rich repeat and fibronectin type III domain containing 5							79.0	76.0	77.0					14																	42356192		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42356192C>T	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.364C>T	14.37:g.42356192C>T	ENSP00000298119:p.Leu122Phe	HNSCC(30;0.082)				LRFN5_ENST00000298119.4_Missense_Mutation_p.L122F|LRFN5_ENST00000554120.1_Missense_Mutation_p.L122F	p.L122F			Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	5	2796	+			122					B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.364C>T	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.931517	0.52866	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	D;D;D	0.91521	-2.86;-2.86;-2.86	5.56	5.56	0.83823	.	0.000000	0.50627	D	0.000104	D	0.95996	0.8696	M	0.88979	2.995	0.50813	D	0.99989	D;D	0.62365	0.98;0.991	P;D	0.74348	0.899;0.983	D	0.96525	0.9388	10	0.87932	D	0	.	17.0193	0.86429	0.0:1.0:0.0:0.0	.	122;122	G3V364;Q96NI6	.;LRFN5_HUMAN	F	122	ENSP00000298119:L122F;ENSP00000451897:L122F;ENSP00000451067:L122F	ENSP00000298119:L122F	L	+	1	0	LRFN5	41425942	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.001000	0.70685	2.595000	0.87683	0.650000	0.86243	CTT		0.383	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		8	374	0	0	0	1	0	8	374				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	523	0	0	0	1	0	6	523				
FOLH1	2346	broad.mit.edu	37	11	49186293	49186293	+	Silent	SNP	C	C	T	rs370741711		TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr11:49186293C>T	ENST00000256999.2	-	13	1664	c.1404G>A	c.(1402-1404)ccG>ccA	p.P468P	FOLH1_ENST00000343844.4_Silent_p.P160P|FOLH1_ENST00000533034.1_Silent_p.P453P|FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000340334.7_Silent_p.P453P|FOLH1_ENST00000356696.3_Silent_p.P468P	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	468	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TGTACATCAGCGGTGTACAAT	0.284																																						ENST00000340334.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60						c.(1357-1359)ccG>ccA		folate hydrolase (prostate-specific membrane antigen) 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						41.0	42.0	42.0					11																	49186293		2197	4295	6492	SO:0001819	synonymous_variant	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49186293C>T	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1404G>A	11.37:g.49186293C>T						FOLH1_ENST00000256999.2_Silent_p.P468P|FOLH1_ENST00000533034.1_Silent_p.P453P|FOLH1_ENST00000356696.3_Silent_p.P468P|FOLH1_ENST00000343844.4_Silent_p.P160P|FOLH1_ENST00000525629.1_5'UTR	p.P453P	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN			14	1727	-			468			NAALADase.		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	ENST00000256999.2	37	c.1359G>A	CCDS7946.1																																																																																				0.284	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		4	205	0	0	0	1	0	4	205				
NUTM2B-AS1	101060691	broad.mit.edu	37	10	81443781	81443781	+	RNA	SNP	A	A	T	rs575925424	byFrequency	TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr10:81443781A>T	ENST00000600376.1	-	0	54				RP11-119F19.2_ENST00000596088.1_RNA																							GACCACAAAGACGAGGAGGAG	0.622													a|||	14	0.00279553	0.0053	0.0029	5008	,	,		19344	0.002		0.002	False		,,,				2504	0.001					ENST00000600376.1																			0																																																			0							g.chr10:81443781A>T																													10.37:g.81443781A>T						RP11-119F19.2_ENST00000596088.1_RNA								0	54	-									RNA	SNP	ENST00000600376.1	37																																																																																						0.622	RP11-119F19.2-004	KNOWN	basic	antisense	antisense	OTTHUMT00000461766.1			4	68	0	0	0	1	0	4	68				
PSPC1	55269	broad.mit.edu	37	13	20356758	20356758	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr13:20356758G>A	ENST00000338910.4	-	1	299	c.140C>T	c.(139-141)cCg>cTg	p.P47L		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	47					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		GGGCGCGGGCGGTGCCGGCTC	0.706																																						ENST00000338910.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(139-141)cCg>cTg		paraspeckle component 1							14.0	16.0	15.0					13																	20356758		1848	4070	5918	SO:0001583	missense	55269				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding	g.chr13:20356758G>A	AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"""RNA binding motif (RRM) containing"""	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.140C>T	13.37:g.20356758G>A	ENSP00000343966:p.Pro47Leu						p.P47L	NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)	1	299	-		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	47					Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Missense_Mutation	SNP	ENST00000338910.4	37	c.140C>T	CCDS41870.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742235	0.49151	.	.	ENSG00000121390	ENST00000338910;ENST00000427943	T;T	0.17528	2.27;2.32	4.58	2.83	0.33086	.	0.557449	0.16038	N	0.232560	T	0.12518	0.0304	L	0.34521	1.04	0.40986	D	0.984817	B	0.09022	0.002	B	0.01281	0.0	T	0.06770	-1.0808	10	0.62326	D	0.03	0.009	6.7418	0.23441	0.1544:0.0:0.7016:0.144	.	47	Q8WXF1	PSPC1_HUMAN	L	47	ENSP00000343966:P47L;ENSP00000393069:P47L	ENSP00000343966:P47L	P	-	2	0	PSPC1	19254758	0.001000	0.12720	0.057000	0.19452	0.160000	0.22226	0.792000	0.26929	0.553000	0.29044	0.313000	0.20887	CCG		0.706	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044037.2			4	159	0	0	0	1	0	4	159				
DKC1	1736	broad.mit.edu	37	X	153994624	153994624	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chrX:153994624A>G	ENST00000369550.5	+	5	607	c.397A>G	c.(397-399)Atc>Gtc	p.I133V	SNORA36A_ENST00000384221.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	133					cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGGTTGTTTAATCGTGTGCAT	0.537									Congenital Dyskeratosis																													ENST00000369550.5																			0				breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15						c.(397-399)Atc>Gtc		dyskeratosis congenita 1, dyskerin							94.0	81.0	85.0					X																	153994624		2203	4300	6503	SO:0001583	missense	1736	Congenital Dyskeratosis	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity	g.chrX:153994624A>G	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.397A>G	X.37:g.153994624A>G	ENSP00000358563:p.Ile133Val						p.I133V	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN			5	607	+	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		133					F5BSB3|O43845|Q96G67|Q9Y505	Missense_Mutation	SNP	ENST00000369550.5	37	c.397A>G	CCDS14761.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.18|17.18	3.323732|3.323732	0.60634|0.60634	.|.	.|.	ENSG00000130826|ENSG00000130826	ENST00000369550;ENST00000413910|ENST00000437719	D;D|.	0.87029|.	-2.2;-2.2|.	5.95|5.95	5.95|5.95	0.96441|0.96441	Pseudouridine synthase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69682|0.69682	0.3138|0.3138	L|L	0.60845|0.60845	1.875|1.875	0.80722|0.80722	D|D	1|1	B;B|.	0.21147|.	0.025;0.052|.	B;B|.	0.26770|.	0.036;0.073|.	T|T	0.68538|0.68538	-0.5382|-0.5382	10|5	0.54805|.	T|.	0.06|.	-14.0917|-14.0917	14.088|14.088	0.64971|0.64971	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	133;133|.	A8MUT5;O60832|.	.;DKC1_HUMAN|.	V|S	133|118	ENSP00000358563:I133V;ENSP00000400542:I133V|.	ENSP00000358563:I133V|.	I|N	+|+	1|2	0|0	DKC1|DKC1	153647818|153647818	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.958000|0.958000	0.62258|0.62258	8.806000|8.806000	0.91930|0.91930	2.008000|2.008000	0.58898|0.58898	0.417000|0.417000	0.27973|0.27973	ATC|AAT		0.537	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061180.5	NM_001363		10	120	0	0	0	1	0	10	120				
FBN2	2201	broad.mit.edu	37	5	127744367	127744367	+	Splice_Site	SNP	C	C	T			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr5:127744367C>T	ENST00000508053.1	-	14	2052	c.1078G>A	c.(1078-1080)Gat>Aat	p.D360N	FBN2_ENST00000508989.1_Splice_Site_p.D327N|FBN2_ENST00000262464.4_Splice_Site_p.D360N			P35556	FBN2_HUMAN	fibrillin 2	360					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CGAGGCTTACCGATGCATCGA	0.413																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.e14+1		fibrillin 2							110.0	97.0	101.0					5																	127744367		2203	4300	6503	SO:0001630	splice_region_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127744367C>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.1078+1G>A	5.37:g.127744367C>T						FBN2_ENST00000508989.1_Splice_Site_p.D327_splice|FBN2_ENST00000262464.4_Splice_Site_p.D360_splice	p.D360_splice			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	14	2052	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	360					B4DU01|Q59ES6	Splice_Site	SNP	ENST00000508053.1	37	c.1078_splice	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.309040	0.60414	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.94184	-2.21;-2.21;-3.37	4.89	4.89	0.63831	Matrix fibril-associated (2);	0.000000	0.64402	D	0.000003	D	0.97148	0.9068	M	0.89163	3.01	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72625	0.978;0.978	D	0.97437	1.0019	9	.	.	.	.	18.5162	0.90936	0.0:1.0:0.0:0.0	.	327;360	D6RJI3;P35556	.;FBN2_HUMAN	N	360;360;327	ENSP00000262464:D360N;ENSP00000424571:D360N;ENSP00000425596:D327N	.	D	-	1	0	FBN2	127772266	1.000000	0.71417	0.994000	0.49952	0.540000	0.34992	7.009000	0.76347	2.647000	0.89833	0.555000	0.69702	GAT		0.413	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	Missense_Mutation	95	354	0	0	0	1	0	95	354				
HELZ2	85441	broad.mit.edu	37	20	62195959	62195959	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr20:62195959T>A	ENST00000467148.1	-	8	4285	c.4216A>T	c.(4216-4218)Atg>Ttg	p.M1406L	HELZ2_ENST00000427522.2_Missense_Mutation_p.M837L	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1406					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GCCGGCAGCATGGGCACTGGC	0.697																																						ENST00000467148.1																			0											c.(4216-4218)Atg>Ttg		helicase with zinc finger 2, transcriptional coactivator							7.0	6.0	7.0					20																	62195959		2112	4193	6305	SO:0001583	missense	85441							g.chr20:62195959T>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.4216A>T	20.37:g.62195959T>A	ENSP00000417401:p.Met1406Leu					HELZ2_ENST00000427522.2_Missense_Mutation_p.M837L	p.M1406L	NM_001037335.2	NP_001032412.2					8	4285	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.4216A>T	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	T	14.05	2.420934	0.42918	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.57273	0.41;0.41	4.84	1.17	0.20885	Ribonuclease II/R (2);	0.121286	0.85682	N	0.000000	T	0.64864	0.2637	M	0.73319	2.225	0.34494	D	0.705246	D;D	0.89917	0.999;1.0	D;D	0.85130	0.997;0.997	T	0.68985	-0.5265	10	0.87932	D	0	-47.3774	5.9575	0.19281	0.0:0.1501:0.1389:0.711	.	1406;837	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	L	837;1406	ENSP00000393257:M837L;ENSP00000417401:M1406L	ENSP00000393257:M837L	M	-	1	0	RP4-697K14.7	61666403	1.000000	0.71417	0.112000	0.21494	0.008000	0.06430	2.541000	0.45735	-0.062000	0.13088	0.402000	0.26972	ATG		0.697	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		11	24	0	0	0	1	0	11	24				
FAM53C	51307	broad.mit.edu	37	5	137681216	137681216	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr5:137681216C>T	ENST00000239906.5	+	4	1267	c.839C>T	c.(838-840)gCc>gTc	p.A280V	RP11-256P1.1_ENST00000504539.1_RNA|FAM53C_ENST00000513056.1_Missense_Mutation_p.P90S|FAM53C_ENST00000434981.2_Missense_Mutation_p.A280V	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	280										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GATCTGGATGCCCGCAAAACT	0.632																																						ENST00000239906.5																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(838-840)gCc>gTc		family with sequence similarity 53, member C							48.0	58.0	54.0					5																	137681216		2203	4300	6503	SO:0001583	missense	51307							g.chr5:137681216C>T	AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"""chromosome 5 open reading frame 6"""	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.839C>T	5.37:g.137681216C>T	ENSP00000239906:p.Ala280Val					FAM53C_ENST00000434981.2_Missense_Mutation_p.A280V|FAM53C_ENST00000513056.1_Missense_Mutation_p.P90S	p.A280V	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		4	1267	+			280					B2RDJ5|D3DQB9	Missense_Mutation	SNP	ENST00000239906.5	37	c.839C>T	CCDS4204.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.12|13.12	2.141207|2.141207	0.37825|0.37825	.|.	.|.	ENSG00000120709|ENSG00000120709	ENST00000434981;ENST00000239906|ENST00000513056	T;T|T	0.44482|0.52983	0.92;0.92|0.64	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.213735|.	0.41194|.	D|.	0.000924|.	T|T	0.50343|0.50343	0.1610|0.1610	L|L	0.36672|0.36672	1.1|1.1	0.26239|0.26239	N|N	0.978896|0.978896	P|P	0.41450|0.46142	0.75|0.873	B|P	0.33690|0.47346	0.168|0.544	T|T	0.50406|0.50406	-0.8832|-0.8832	10|9	0.54805|0.87932	T|D	0.06|0	-6.9182|-6.9182	18.4386|18.4386	0.90656|0.90656	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	280|90	Q9NYF3|D6RE00	FA53C_HUMAN|.	V|S	280|90	ENSP00000403705:A280V;ENSP00000239906:A280V|ENSP00000425154:P90S	ENSP00000239906:A280V|ENSP00000425154:P90S	A|P	+|+	2|1	0|0	FAM53C|FAM53C	137709115|137709115	0.858000|0.858000	0.29795|0.29795	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.468000|1.468000	0.35332|0.35332	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GCC|CCC		0.632	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251278.2	NM_016605		6	714	0	0	0	1	0	6	714				
GRIN3A	116443	broad.mit.edu	37	9	104356877	104356877	+	Intron	SNP	G	G	A			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr9:104356877G>A	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Silent_p.N112N	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	AGAGCTCCCCGTTGGAAATGT	0.542																																						ENST00000374806.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(334-336)aaC>aaT		protein phosphatase 3, regulatory subunit B, beta	Cyclosporine(DB00091)						133.0	121.0	125.0					9																	104356877		2203	4300	6503	SO:0001627	intron_variant	5535						calcium ion binding	g.chr9:104356877G>A		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15235C>T	9.37:g.104356877G>A						GRIN3A_ENST00000361820.3_Intron	p.N112N	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN			1	406	-		Acute lymphoblastic leukemia(62;0.0527)	109			EF-hand 3.		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	c.336C>T	CCDS6758.1																																																																																				0.542	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			8	554	0	0	0	1	0	8	554				
FRG1B	284802	broad.mit.edu	37	20	29628278	29628278	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr20:29628278G>A	ENST00000278882.3	+	6	660	c.280G>A	c.(280-282)Gca>Aca	p.A94T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	94										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGCAATGAAGCAGGGGACAT	0.373																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(280-282)Gca>Aca																																						SO:0001583	missense	0							g.chr20:29628278G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.280G>A	20.37:g.29628278G>A	ENSP00000278882:p.Ala94Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T	p.A94T							6	660	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.280G>A		.	.	.	.	.	.	.	.	.	.	g	9.994	1.231660	0.22626	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.44083	0.93	2.08	2.08	0.27032	Actin cross-linking (1);	0.286587	0.39083	N	0.001478	T	0.22898	0.0553	.	.	.	0.21290	N	0.99973	B;B	0.12630	0.0;0.006	B;B	0.12156	0.002;0.007	T	0.15407	-1.0438	9	0.16420	T	0.52	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	99;94	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	94;99;94	ENSP00000408863:A99T	ENSP00000278882:A94T	A	+	1	0	FRG1B	28241939	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.196000	0.58407	1.475000	0.48197	0.423000	0.28283	GCA		0.373	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		14	435	0	0	0	1	0	14	435				
TLN1	7094	broad.mit.edu	37	9	35706336	35706336	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr9:35706336G>A	ENST00000314888.9	-	40	5571	c.5218C>T	c.(5218-5220)Ccg>Tcg	p.P1740S	TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Missense_Mutation_p.P1724S	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1740	Interaction with SYNM.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGGGTGAGCGGCTCAAAGTAC	0.607																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(5218-5220)Ccg>Tcg		talin 1							74.0	78.0	77.0					9																	35706336		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35706336G>A	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.5218C>T	9.37:g.35706336G>A	ENSP00000316029:p.Pro1740Ser					TLN1_ENST00000540444.1_Missense_Mutation_p.P1724S|TLN1_ENST00000464379.1_Intron	p.P1740S	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		40	5571	-	all_epithelial(49;0.167)		1740			Interaction with SYNM.		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.5218C>T	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556415	0.86231	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.12672	2.66;2.66	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.25791	0.0628	L	0.56396	1.775	0.80722	D	1	P	0.51147	0.942	P	0.50352	0.638	T	0.00435	-1.1741	10	0.38643	T	0.18	-12.3641	18.736	0.91755	0.0:0.0:1.0:0.0	.	1740	Q9Y490	TLN1_HUMAN	S	1740;1724	ENSP00000316029:P1740S;ENSP00000442981:P1724S	ENSP00000316029:P1740S	P	-	1	0	TLN1	35696336	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.864000	0.99589	2.512000	0.84698	0.555000	0.69702	CCG		0.607	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		5	449	0	0	0	1	0	5	449				
C4orf32	132720	broad.mit.edu	37	4	113107884	113107884	+	Silent	SNP	G	G	A			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr4:113107884G>A	ENST00000309733.5	+	2	373	c.189G>A	c.(187-189)ccG>ccA	p.P63P		NM_152400.2	NP_689613.1	Q8N8J7	CD032_HUMAN	chromosome 4 open reading frame 32	63						integral component of membrane (GO:0016021)							Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00198)		CTGGTGAGCCGGTTGGAGATG	0.353																																						ENST00000309733.4																			0											c.(187-189)ccG>ccA		chromosome 4 open reading frame 32							113.0	107.0	109.0					4																	113107884		2203	4300	6503	SO:0001819	synonymous_variant	132720					integral to membrane		g.chr4:113107884G>A	AK096689	CCDS3695.1	4q25	2008-02-05			ENSG00000174749	ENSG00000174749			26813	protein-coding gene	gene with protein product						12477932	Standard	NM_152400		Approved	FLJ39370	uc003iah.2	Q8N8J7	OTTHUMG00000132851	ENST00000309733.5:c.189G>A	4.37:g.113107884G>A							p.P63P	NM_152400.2	NP_689613.1	Q8N8J7	CD032_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00198)	2	373	+		Ovarian(17;0.156)	63					Q49A91|Q4W5C7|Q8TBF9	Silent	SNP	ENST00000309733.5	37	c.189G>A	CCDS3695.1																																																																																				0.353	C4orf32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256325.2	NM_152400		6	654	0	0	0	1	0	6	654				
CD300LG	146894	broad.mit.edu	37	17	41924588	41924588	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr17:41924588C>T	ENST00000317310.4	+	1	45	c.4C>T	c.(4-6)Cgg>Tgg	p.R2W	CD300LG_ENST00000377203.4_Missense_Mutation_p.R2W|CD300LG_ENST00000586233.1_Missense_Mutation_p.R2W|CD300LG_ENST00000588884.1_Missense_Mutation_p.R2W|CD300LG_ENST00000293396.8_Missense_Mutation_p.R2W|CD300LG_ENST00000539718.1_Missense_Mutation_p.R2W	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	2					immune system process (GO:0002376)|immunoglobulin transcytosis in epithelial cells (GO:0002414)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GCCCAGAATGCGGCTTCTGGT	0.602																																						ENST00000317310.4																			0				central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19						c.(4-6)Cgg>Tgg		CD300 molecule-like family member g							92.0	90.0	91.0					17																	41924588		2203	4300	6503	SO:0001583	missense	146894					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity	g.chr17:41924588C>T	BC025395	CCDS11470.1, CCDS54131.1, CCDS54132.1, CCDS54133.1	17q21.31	2013-01-11	2006-03-29					"""Immunoglobulin superfamily / V-set domain containing"""	30455	protein-coding gene	gene with protein product	"""nepmucin"""	610520	"""CD300 antigen like family member G"""			16876123, 16754720	Standard	NM_001168322		Approved	Trem4, CLM9	uc002iem.3	Q6UXG3		ENST00000317310.4:c.4C>T	17.37:g.41924588C>T	ENSP00000321005:p.Arg2Trp					CD300LG_ENST00000377203.4_Missense_Mutation_p.R2W|CD300LG_ENST00000539718.1_Missense_Mutation_p.R2W|CD300LG_ENST00000293396.8_Missense_Mutation_p.R2W|CD300LG_ENST00000588884.1_Missense_Mutation_p.R2W|CD300LG_ENST00000586233.1_Missense_Mutation_p.R2W	p.R2W	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	1	45	+		Breast(137;0.0199)	2					B4DNY5|F5H7P9|F8W9M3|Q8IX38|Q8IX39|Q8TA95	Missense_Mutation	SNP	ENST00000317310.4	37	c.4C>T	CCDS11470.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.454695	0.43634	.	.	ENSG00000161649	ENST00000317310;ENST00000539718;ENST00000377203;ENST00000293396	T;T;T;T	0.08720	3.1;3.06;3.38;3.45	3.3	-6.59	0.01830	.	1.440700	0.05042	N	0.476422	T	0.06872	0.0175	L	0.43701	1.375	0.09310	N	1	B;B;B;B;B;B	0.21688	0.059;0.059;0.022;0.013;0.059;0.013	B;B;B;B;B;B	0.15484	0.01;0.008;0.01;0.005;0.013;0.003	T	0.34850	-0.9812	10	0.87932	D	0	-18.3701	4.4599	0.11661	0.4786:0.1633:0.0:0.3581	.	2;2;2;2;2;2	F8W9M3;Q6UXG3-3;F5H7P9;Q6UXG3;Q6UXG3-2;B4DNY5	.;.;.;CLM9_HUMAN;.;.	W	2	ENSP00000321005:R2W;ENSP00000442368:R2W;ENSP00000366408:R2W;ENSP00000293396:R2W	ENSP00000293396:R2W	R	+	1	2	CD300LG	39280114	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-2.465000	0.00995	-2.101000	0.00846	-0.768000	0.03414	CGG		0.602	CD300LG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457646.1	NM_145273		5	502	0	0	0	1	0	5	502				
NBPF9	400818	broad.mit.edu	37	1	144828704	144828704	+	Missense_Mutation	SNP	T	T	G			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr1:144828704T>G	ENST00000281815.8	+	13	1290	c.544T>G	c.(544-546)Tac>Gac	p.Y182D	NBPF9_ENST00000338347.4_Missense_Mutation_p.Y584D|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000440491.2_3'UTR			Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	842	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.L657L(3)|p.Y584D(1)		NS(2)|prostate(1)	3						CTTCGCCCTTTACGTGGACAA	0.438																																						ENST00000338347.4																			4	Substitution - coding silent(3)|Substitution - Missense(1)	p.L657L(3)|p.Y584D(1)	prostate(4)	NS(2)|prostate(1)	3						c.(1750-1752)Tac>Gac		neuroblastoma breakpoint family, member 9							35.0	31.0	32.0					1																	144828704		692	1579	2271	SO:0001583	missense	400818							g.chr1:144828704T>G		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000281815.8:c.544T>G	1.37:g.144828704T>G	ENSP00000281815:p.Tyr182Asp					NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000281815.8_Missense_Mutation_p.Y182D|NBPF9_ENST00000468645.1_3'UTR	p.Y584D							14	1750	+									Missense_Mutation	SNP	ENST00000281815.8	37	c.1750T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.001|0.001	-3.386623|-3.386623	0.00014|0.00014	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000375552|ENST00000338347;ENST00000281815	.|T;T	.|0.04194	.|3.68;3.68	0.618|0.618	-1.24|-1.24	0.09435|0.09435	.|.	.|.	.|.	.|.	.|.	T|T	0.00384|0.00384	0.0012|0.0012	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.12013	.|0.0;0.0;0.003;0.001;0.005	.|B;B;B;B;B	.|0.15484	.|0.003;0.001;0.013;0.004;0.01	T|T	0.43114|0.43114	-0.9411|-0.9411	3|7	.|0.02654	.|T	.|1	.|.	.|.	.|.	.|.	.|.	.|648;244;815;590;657	.|Q5VTG8;A8K9F1;B4DG53;Q8IX72;Q5TB04	.|.;.;.;.;.	L|D	657|584;182	.|ENSP00000342975:Y584D;ENSP00000281815:Y182D	.|ENSP00000281815:Y182D	F|Y	+|+	3|1	2|0	NBPF9|NBPF9	143540061|143540061	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.866000|-0.866000	0.04245|0.04245	-1.717000|-1.717000	0.01385|0.01385	-1.365000|-1.365000	0.01206|0.01206	TTT|TAC		0.438	NBPF9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037675		6	675	0	0	0	1	0	6	675				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs372981463		TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr21:14414844T>C	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		ACTGGGCCTGTGCCAATGGCC	0.433																																						ENST00000507941.1																			0																																																			0							g.chr21:14414844T>C	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414844T>C														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.433	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		10	296	0	0	0	1	0	10	296				
FAM86DP	692099	broad.mit.edu	37	3	75475709	75475709	+	RNA	SNP	T	T	C			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr3:75475709T>C	ENST00000459803.1	-	0	820					NR_024241.1				family with sequence similarity 86, member D, pseudogene									p.I261V(1)									CTCCGCAGGATCCCGACCAGC	0.562																																						ENST00000459803.1																			1	Substitution - Missense(1)	p.I261V(1)	kidney(1)																																																0							g.chr3:75475709T>C	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75475709T>C								NR_024241.1						0	820	-									RNA	SNP	ENST00000459803.1	37																																																																																						0.562	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		5	195	0	0	0	1	0	5	195				
ZC3H13	23091	broad.mit.edu	37	13	46549566	46549566	+	Nonsense_Mutation	SNP	G	G	A			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr13:46549566G>A	ENST00000242848.4	-	12	2668	c.2320C>T	c.(2320-2322)Cga>Tga	p.R774*	ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.R774*			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	774	Arg/Glu-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		gctctttctcgttcccgttct	0.512																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(2320-2322)Cga>Tga		zinc finger CCCH-type containing 13							349.0	271.0	297.0					13																	46549566		2203	4300	6503	SO:0001587	stop_gained	23091						nucleic acid binding|zinc ion binding	g.chr13:46549566G>A	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2320C>T	13.37:g.46549566G>A	ENSP00000242848:p.Arg774*					ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.R774*	p.R774*			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	12	2668	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	774			Arg/Glu-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Nonsense_Mutation	SNP	ENST00000242848.4	37	c.2320C>T		.	.	.	.	.	.	.	.	.	.	G	41	8.836150	0.98972	.	.	ENSG00000123200	ENST00000242848;ENST00000282007	.	.	.	4.72	1.86	0.25419	.	0.000000	0.44285	D	0.000480	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	13.6588	0.62354	0.0:0.0:0.2808:0.7192	.	.	.	.	X	774	.	ENSP00000242848:R774X	R	-	1	2	ZC3H13	45447567	0.999000	0.42202	0.990000	0.47175	0.974000	0.67602	0.668000	0.25127	0.152000	0.19188	0.467000	0.42956	CGA		0.512	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		5	379	0	0	0	1	0	5	379				
PCYT1A	5130	broad.mit.edu	37	3	195965646	195965646	+	Silent	SNP	G	G	A	rs372804569		TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr3:195965646G>A	ENST00000292823.2	-	10	1189	c.1017C>T	c.(1015-1017)tcC>tcT	p.S339S	PCYT1A_ENST00000419333.1_Silent_p.S339S|PCYT1A_ENST00000431016.1_Silent_p.S339S	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	339	3 X repeats.				CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587)	choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289)			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)|Lamivudine(DB00709)	AAGTCTTGCCGGAGAAGGGCC	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		16657	0.0		0.0	False		,,,				2504	0.001					ENST00000292823.2																			0				cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18						c.(1015-1017)tcC>tcT		phosphate cytidylyltransferase 1, choline, alpha	Choline(DB00122)	G		1,4405	2.1+/-5.4	0,1,2202	71.0	73.0	72.0		1017	-1.6	1.0	3		72	0,8600		0,0,4300	no	coding-synonymous	PCYT1A	NM_005017.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		339/368	195965646	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5130					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity	g.chr3:195965646G>A	L28957	CCDS3315.1	3q29	2010-07-19	2005-09-05		ENSG00000161217	ENSG00000161217	2.7.7.15		8754	protein-coding gene	gene with protein product	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	123695	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	PCYT1		7918629	Standard	NM_005017		Approved	CT, CTPCT	uc003fwg.3	P49585	OTTHUMG00000155670	ENST00000292823.2:c.1017C>T	3.37:g.195965646G>A						PCYT1A_ENST00000431016.1_Silent_p.S339S|PCYT1A_ENST00000419333.1_Silent_p.S339S	p.S339S	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	10	1189	-	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		339			3 X repeats.		A9LYK9|D3DXB1|Q86Y88	Silent	SNP	ENST00000292823.2	37	c.1017C>T	CCDS3315.1																																																																																				0.607	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341147.1	NM_005017		4	209	0	0	0	1	0	4	209				
ZFR	51663	broad.mit.edu	37	5	32407029	32407029	+	Silent	SNP	A	A	T	rs139769264		TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr5:32407029A>T	ENST00000265069.8	-	6	984	c.882T>A	c.(880-882)gcT>gcA	p.A294A		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	294	Ala-rich.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A294A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		cagcagcagcagctgctgctg	0.483																																						ENST00000265069.8																			1	Substitution - coding silent(1)	p.A294A(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(880-882)gcT>gcA		zinc finger RNA binding protein		A		0,4406		0,0,2203	35.0	36.0	36.0		882	-7.9	1.0	5	dbSNP_134	36	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZFR	NM_016107.3		0,1,6502	TT,TA,AA		0.0116,0.0,0.0077		294/1075	32407029	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32407029A>T	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.882T>A	5.37:g.32407029A>T							p.A294A	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	6	984	-			294			Ala-rich.		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Silent	SNP	ENST00000265069.8	37	c.882T>A	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	A	11.68	1.711849	0.30322	0.0	1.16E-4	ENSG00000056097	ENST00000416900	.	.	.	5.89	-7.9	0.01169	.	.	.	.	.	T	0.27731	0.0682	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33292	-0.9874	5	0.08179	T	0.78	.	8.2119	0.31488	0.2876:0.1859:0.0:0.5266	.	.	.	.	S	175	.	ENSP00000393243:C175S	C	-	1	0	ZFR	32442786	0.089000	0.21612	0.989000	0.46669	0.998000	0.95712	-1.076000	0.03420	-0.596000	0.05821	0.454000	0.30748	TGC		0.483	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			5	236	0	0	0	1	0	5	236				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609		TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr21:14414902G>A	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		CCAGCTTGACGTCCTTGATGG	0.443																																						ENST00000507941.1																			0																																																			0							g.chr21:14414902G>A	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414902G>A														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.443	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		17	229	0	0	0	1	0	17	229				
DENND6B	414918	broad.mit.edu	37	22	50752274	50752274	+	Missense_Mutation	SNP	C	C	T	rs372222188		TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr22:50752274C>T	ENST00000413817.3	-	14	1243	c.1172G>A	c.(1171-1173)cGc>cAc	p.R391H	XX-C283C717.1_ENST00000453835.1_RNA	NM_001001794.3	NP_001001794.3	Q8NEG7	DEN6B_HUMAN	DENN/MADD domain containing 6B	391					positive regulation of Rab GTPase activity (GO:0032851)	endosome (GO:0005768)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										CGCCTTGTCGCGGTGGAGGTG	0.677													C|||	1	0.000199681	0.0008	0.0	5008	,	,		10510	0.0		0.0	False		,,,				2504	0.0					ENST00000413817.2																			0											c.(1171-1173)cGc>cAc		DENN/MADD domain containing 6B		C	HIS/ARG	0,4140		0,0,2070	33.0	38.0	36.0		1172	3.6	1.0	22		36	1,8401		0,1,4200	no	missense	FAM116B	NM_001001794.3	29	0,1,6270	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging	391/586	50752274	1,12541	2070	4201	6271	SO:0001583	missense	414918							g.chr22:50752274C>T	AK054743	CCDS46732.1	22q13.33	2012-10-03	2012-10-03	2012-10-03	ENSG00000205593	ENSG00000205593		"""DENN/MADD domain containing"""	32690	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member B"""	FAM116B		21330364	Standard	NM_001001794		Approved	MGC33692, AFI1B	uc011arv.1	Q8NEG7	OTTHUMG00000150210	ENST00000413817.3:c.1172G>A	22.37:g.50752274C>T	ENSP00000391524:p.Arg391His						p.R391H	NM_001001794.3	NP_001001794.3					14	1243	-								A6X8I5	Missense_Mutation	SNP	ENST00000413817.3	37	c.1172G>A	CCDS46732.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.536917	0.65085	0.0	1.19E-4	ENSG00000205593	ENST00000413817	.	.	.	4.85	3.6	0.41247	.	0.054253	0.64402	D	0.000001	T	0.27594	0.0678	L	0.32530	0.975	0.28959	N	0.889941	D;D	0.56521	0.976;0.976	B;B	0.42188	0.379;0.379	T	0.24225	-1.0166	9	0.66056	D	0.02	-23.4264	11.2985	0.49292	0.0:0.8915:0.0:0.1085	.	391;391	Q8NEG7;C9JIV6	F116B_HUMAN;.	H	391	.	ENSP00000391524:R391H	R	-	2	0	FAM116B	49094846	0.686000	0.27661	0.988000	0.46212	0.563000	0.35712	0.885000	0.28227	2.219000	0.72066	0.462000	0.41574	CGC		0.677	DENND6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316845.3	NM_001001794		4	208	0	0	0	1	0	4	208				
KRTAP5-5	439915	broad.mit.edu	37	11	1651483	1651483	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr11:1651483G>C	ENST00000399676.2	+	1	451	c.413G>C	c.(412-414)gGc>gCc	p.G138A		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	138	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.G138A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TCCAAGGGGGGCTGTGGCTCC	0.692																																						ENST00000399676.2																			1	Substitution - Missense(1)	p.G138A(1)	lung(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33						c.(412-414)gGc>gCc		keratin associated protein 5-5							13.0	19.0	17.0					11																	1651483		2129	4198	6327	SO:0001583	missense	439915					keratin filament		g.chr11:1651483G>C	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.413G>C	11.37:g.1651483G>C	ENSP00000382584:p.Gly138Ala						p.G138A	NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	451	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	138			8 X 4 AA repeats of C-C-X-P.		A8MWN2	Missense_Mutation	SNP	ENST00000399676.2	37	c.413G>C	CCDS41592.1	.	.	.	.	.	.	.	.	.	.	g	0	-2.606108	0.00121	.	.	ENSG00000185940	ENST00000399676;ENST00000422553	T	0.01203	5.18	3.03	2.11	0.27256	.	.	.	.	.	T	0.01695	0.0054	M	0.82823	2.61	0.22601	N	0.998945	B	0.25667	0.131	B	0.19666	0.026	T	0.52366	-0.8585	9	0.02654	T	1	.	6.1318	0.20209	0.1478:0.0:0.8522:0.0	.	138	Q701N2	KRA55_HUMAN	A	138;109	ENSP00000382584:G138A	ENSP00000382584:G138A	G	+	2	0	KRTAP5-5	1608059	1.000000	0.71417	0.411000	0.26484	0.028000	0.11728	2.598000	0.46223	0.497000	0.27926	-0.360000	0.07572	GGC		0.692	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			5	127	0	0	0	1	0	5	127				
BDKRB1	623	broad.mit.edu	37	14	96730887	96730887	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr14:96730887A>G	ENST00000216629.6	+	3	1474	c.868A>G	c.(868-870)Att>Gtt	p.I290V	BDKRB1_ENST00000553356.1_Intron|RP11-404P21.3_ENST00000553638.1_RNA	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	290					cell migration (GO:0016477)|inflammatory response (GO:0006954)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell growth (GO:0030308)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|peptide binding (GO:0042277)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		GGAGGACTTCATTGACCTGGG	0.522																																						ENST00000216629.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16						c.(868-870)Att>Gtt		bradykinin receptor B1							128.0	123.0	125.0					14																	96730887		2203	4300	6503	SO:0001583	missense	0				elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity	g.chr14:96730887A>G	L42383	CCDS9943.1	14q32.1-q32.2	2012-08-08				ENSG00000100739		"""GPCR / Class A : Bradykinin receptors"""	1029	protein-coding gene	gene with protein product		600337				8808279	Standard	NM_000710		Approved	BKR1, B1BKR, bradyb1	uc001yfh.3	P46663		ENST00000216629.6:c.868A>G	14.37:g.96730887A>G	ENSP00000216629:p.Ile290Val					RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Intron	p.I290V	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)	3	1474	+		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)	290					A8K7F5|Q546S7|Q8N0Y8	Missense_Mutation	SNP	ENST00000216629.6	37	c.868A>G	CCDS9943.1	.	.	.	.	.	.	.	.	.	.	A	3.649	-0.071948	0.07228	.	.	ENSG00000100739	ENST00000216629	T	0.37058	1.22	4.76	3.59	0.41128	GPCR, rhodopsin-like superfamily (1);	0.165522	0.40640	N	0.001052	T	0.22126	0.0533	L	0.39566	1.225	0.09310	N	1	B	0.24258	0.1	B	0.25405	0.06	T	0.32241	-0.9914	10	0.05436	T	0.98	-1.6053	5.9202	0.19078	0.5628:0.2721:0.0:0.165	.	290	P46663	BKRB1_HUMAN	V	290	ENSP00000216629:I290V	ENSP00000216629:I290V	I	+	1	0	BDKRB1	95800640	0.000000	0.05858	0.059000	0.19551	0.419000	0.31324	0.528000	0.23002	0.648000	0.30732	0.459000	0.35465	ATT		0.522	BDKRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413300.1			165	410	0	0	0	1	0	165	410				
ERBB3	2065	broad.mit.edu	37	12	56481660	56481660	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr12:56481660C>T	ENST00000267101.3	+	6	1135	c.695C>T	c.(694-696)gCc>gTc	p.A232V	ERBB3_ENST00000415288.2_Missense_Mutation_p.A173V|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	232					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GATGAGTGTGCCGGGGGCTGC	0.547																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(694-696)gCc>gTc		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							142.0	137.0	138.0					12																	56481660		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56481660C>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.695C>T	12.37:g.56481660C>T	ENSP00000267101:p.Ala232Val					ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.A173V	p.A232V	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		6	1135	+			232					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.695C>T	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	C	35	5.561038	0.96527	.	.	ENSG00000065361	ENST00000267101;ENST00000394099;ENST00000415288	D;D	0.84223	-1.82;-1.82	5.69	5.69	0.88448	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.64402	D	0.000005	D	0.93733	0.7997	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.94397	0.7619	10	0.87932	D	0	.	18.5835	0.91180	0.0:1.0:0.0:0.0	.	232	P21860	ERBB3_HUMAN	V	232;232;173	ENSP00000267101:A232V;ENSP00000408340:A173V	ENSP00000267101:A232V	A	+	2	0	ERBB3	54767927	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.481000	0.81124	2.685000	0.91497	0.655000	0.94253	GCC		0.547	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			6	906	0	0	0	1	0	6	906				
ZFYVE20	64145	broad.mit.edu	37	3	15115677	15115677	+	Missense_Mutation	SNP	C	C	T	rs147577833	byFrequency	TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr3:15115677C>T	ENST00000253699.3	-	14	2580	c.1967G>A	c.(1966-1968)cGc>cAc	p.R656H	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.R656H	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	656	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						TTTCAGGATGCGGGCTGAAGG	0.562																																						ENST00000253699.3																			0				NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						c.(1966-1968)cGc>cAc		zinc finger, FYVE domain containing 20							121.0	122.0	122.0					3																	15115677		2203	4300	6503	SO:0001583	missense	64145				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chr3:15115677C>T	AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"""Zinc fingers, FYVE domain containing"""	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.1967G>A	3.37:g.15115677C>T	ENSP00000253699:p.Arg656His					ZFYVE20_ENST00000476527.2_Missense_Mutation_p.R656H	p.R656H	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN			14	2580	-			656			Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A.		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	ENST00000253699.3	37	c.1967G>A	CCDS2623.1	.	.	.	.	.	.	.	.	.	.	C	5.732	0.319588	0.10845	.	.	ENSG00000131381	ENST00000253699;ENST00000476527	T;T	0.52295	0.67;0.67	4.97	-9.08	0.00720	.	1.531570	0.03231	N	0.178906	T	0.20820	0.0501	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15925	-1.0420	10	0.28530	T	0.3	3.7456	8.903	0.35505	0.0:0.3211:0.1356:0.5433	.	656	Q9H1K0	RBNS5_HUMAN	H	656	ENSP00000253699:R656H;ENSP00000422551:R656H	ENSP00000253699:R656H	R	-	2	0	ZFYVE20	15090681	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-2.083000	0.00867	-1.405000	0.01134	CGC		0.562	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340		8	908	0	0	0	1	0	8	908				
KCNT1	57582	broad.mit.edu	37	9	138649158	138649158	+	Silent	SNP	G	G	A	rs565506288	byFrequency	TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr9:138649158G>A	ENST00000263604.3	+	9	633	c.633G>A	c.(631-633)ccG>ccA	p.P211P	KCNT1_ENST00000298480.5_Silent_p.P230P|KCNT1_ENST00000488444.2_Silent_p.P211P|KCNT1_ENST00000371757.2_Silent_p.P230P|KCNT1_ENST00000490355.2_Silent_p.P211P|KCNT1_ENST00000487664.1_Silent_p.P182P|KCNT1_ENST00000486577.2_Silent_p.P191P|KCNT1_ENST00000491806.2_Silent_p.P197P			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	211					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TCTGGCCGCCGCTGCGGAACC	0.642													G|||	2	0.000399361	0.0	0.0	5008	,	,		10401	0.0		0.0	False		,,,				2504	0.002					ENST00000298480.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(688-690)ccG>ccA		potassium channel, subfamily T, member 1							50.0	57.0	55.0					9																	138649158		2203	4299	6502	SO:0001819	synonymous_variant	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138649158G>A	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.633G>A	9.37:g.138649158G>A						KCNT1_ENST00000371757.2_Silent_p.P230P|KCNT1_ENST00000486577.2_Silent_p.P191P|KCNT1_ENST00000491806.2_Silent_p.P197P|KCNT1_ENST00000487664.1_Silent_p.P182P|KCNT1_ENST00000263604.3_Silent_p.P211P|KCNT1_ENST00000490355.2_Silent_p.P211P|KCNT1_ENST00000488444.2_Silent_p.P211P	p.P230P			B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	9	764	+		Myeloproliferative disorder(178;0.0821)	230					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Silent	SNP	ENST00000263604.3	37	c.690G>A																																																																																					0.642	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		152	307	0	0	0	1	0	152	307				
CDC25B	994	broad.mit.edu	37	20	3778313	3778313	+	Missense_Mutation	SNP	G	G	A	rs146567070		TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr20:3778313G>A	ENST00000245960.5	+	2	942	c.245G>A	c.(244-246)cGc>cAc	p.R82H	CDC25B_ENST00000379598.5_Missense_Mutation_p.R18H|CDC25B_ENST00000344256.6_Missense_Mutation_p.R18H|CDC25B_ENST00000340833.4_Missense_Mutation_p.R82H|CDC25B_ENST00000439880.2_Missense_Mutation_p.R68H|CDC25B_ENST00000467519.1_3'UTR	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	82					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						TTCCGCAGCCGCAGCCGCCTG	0.617																																						ENST00000245960.5																			0				NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						c.(244-246)cGc>cAc		cell division cycle 25B		G	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	69.0	71.0	70.0		203,245,245	-4.1	0.0	20	dbSNP_134	70	0,8600		0,0,4300	no	missense,missense,missense	CDC25B	NM_004358.3,NM_021872.2,NM_021873.2	29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	68/567,82/540,82/581	3778313	1,13005	2203	4300	6503	SO:0001583	missense	994				cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr20:3778313G>A		CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1726	protein-coding gene	gene with protein product		116949	"""cell division cycle 25B"", ""cell division cycle 25 homolog B (S. cerevisiae)"", ""cell division cycle 25 homolog B (S. pombe)"""			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.245G>A	20.37:g.3778313G>A	ENSP00000245960:p.Arg82His					CDC25B_ENST00000379598.5_Missense_Mutation_p.R18H|CDC25B_ENST00000344256.6_Missense_Mutation_p.R18H|CDC25B_ENST00000439880.2_Missense_Mutation_p.R68H|CDC25B_ENST00000340833.4_Missense_Mutation_p.R82H|CDC25B_ENST00000467519.1_3'UTR	p.R82H	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN			2	942	+			82					D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Missense_Mutation	SNP	ENST00000245960.5	37	c.245G>A	CCDS13067.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.313110	0.23908	2.27E-4	0.0	ENSG00000101224	ENST00000344256;ENST00000379598;ENST00000245960;ENST00000439880;ENST00000340833	T;T;T;T;T	0.18338	2.32;2.22;2.46;2.55;2.42	2.89	-4.12	0.03916	.	1.758930	0.03376	N	0.199706	T	0.08447	0.0210	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0	T	0.32268	-0.9913	10	0.19590	T	0.45	-2.8938	8.8465	0.35172	0.4338:0.0:0.5662:0.0	.	18;4;18;82;68;82	B4DQZ3;B4DRC3;B4DIG0;P30305-3;P30305-2;P30305	.;.;.;.;.;MPIP2_HUMAN	H	18;18;82;68;82	ENSP00000339125:R18H;ENSP00000368918:R18H;ENSP00000245960:R82H;ENSP00000405972:R68H;ENSP00000339170:R82H	ENSP00000245960:R82H	R	+	2	0	CDC25B	3726313	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.318000	0.08050	-1.169000	0.02772	-1.332000	0.01269	CGC		0.617	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077779.2	NM_021874		6	633	0	0	0	1	0	6	633				
ESPL1	9700	broad.mit.edu	37	12	53686084	53686084	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr12:53686084G>A	ENST00000257934.4	+	28	5910	c.5819G>A	c.(5818-5820)aGt>aAt	p.S1940N	PFDN5_ENST00000551018.1_5'Flank|ESPL1_ENST00000552462.1_Missense_Mutation_p.S1940N	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1940					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CCAGTGCTGAGTCAAGGGGTG	0.527																																					Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(5818-5820)aGt>aAt		extra spindle pole bodies homolog 1 (S. cerevisiae)							98.0	95.0	96.0					12																	53686084		2203	4300	6503	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53686084G>A	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.5819G>A	12.37:g.53686084G>A	ENSP00000257934:p.Ser1940Asn					ESPL1_ENST00000552462.1_Missense_Mutation_p.S1940N	p.S1940N	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN			28	5910	+			1940						Missense_Mutation	SNP	ENST00000257934.4	37	c.5819G>A	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	G	3.546	-0.092774	0.07053	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.11821	2.74;2.74	4.17	3.26	0.37387	.	0.314863	0.34828	N	0.003649	T	0.11793	0.0287	L	0.47716	1.5	0.24098	N	0.995886	B	0.09022	0.002	B	0.06405	0.002	T	0.20472	-1.0274	10	0.23891	T	0.37	.	10.0644	0.42295	0.0:0.2038:0.7962:0.0	.	1940	Q14674	ESPL1_HUMAN	N	1940;1615;1940	ENSP00000257934:S1940N;ENSP00000449831:S1940N	ENSP00000257934:S1940N	S	+	2	0	ESPL1	51972351	0.479000	0.25925	1.000000	0.80357	0.545000	0.35147	0.711000	0.25764	1.325000	0.45301	0.650000	0.86243	AGT		0.527	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		31	396	0	0	0	1	0	31	396				
HRH3	11255	broad.mit.edu	37	20	60791076	60791076	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr20:60791076G>A	ENST00000340177.5	-	3	1608	c.1324C>T	c.(1324-1326)Cac>Tac	p.H442Y	HRH3_ENST00000317393.6_Missense_Mutation_p.H442Y	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	442					brain development (GO:0007420)|drinking behavior (GO:0042756)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of serotonin secretion (GO:0014063)|neurotransmitter secretion (GO:0007269)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of norepinephrine secretion (GO:0014061)|response to organic cyclic compound (GO:0014070)	integral component of plasma membrane (GO:0005887)|myelin sheath (GO:0043209)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|histamine receptor activity (GO:0004969)			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Betahistine(DB06698)|Histamine Phosphate(DB00667)|Mirtazapine(DB00370)	TTCCAGCAGTGCTCCAGGGAG	0.662																																						ENST00000340177.5																			0				breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						c.(1324-1326)Cac>Tac		histamine receptor H3	Histamine Phosphate(DB00667)						34.0	31.0	32.0					20																	60791076		2193	4289	6482	SO:0001583	missense	11255				G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity	g.chr20:60791076G>A	AF140538	CCDS13493.1	20q13.33	2013-09-19			ENSG00000101180	ENSG00000101180		"""GPCR / Class A : Histamine receptors"""	5184	protein-coding gene	gene with protein product		604525				10347254	Standard	NM_007232		Approved	GPCR97	uc002ycf.2	Q9Y5N1	OTTHUMG00000032899	ENST00000340177.5:c.1324C>T	20.37:g.60791076G>A	ENSP00000342560:p.His442Tyr					HRH3_ENST00000317393.6_Missense_Mutation_p.H442Y	p.H442Y	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		3	1608	-	Breast(26;7.76e-09)		442					Q4QRI7|Q9GZX2|Q9H4K8	Missense_Mutation	SNP	ENST00000340177.5	37	c.1324C>T	CCDS13493.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.060368	0.36373	.	.	ENSG00000101180	ENST00000340177;ENST00000317393;ENST00000370797	T;T	0.37411	1.2;1.2	5.01	5.01	0.66863	.	1.071910	0.07156	N	0.849848	T	0.23171	0.0560	N	0.22421	0.69	0.20307	N	0.999911	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.32161	-0.9917	10	0.08837	T	0.75	-8.8133	6.8804	0.24170	0.0885:0.0:0.6862:0.2253	.	442;298;362;442	Q9Y5N1-2;E7EWA7;Q8WXZ9;Q9Y5N1	.;.;.;HRH3_HUMAN	Y	442;442;412	ENSP00000342560:H442Y;ENSP00000321482:H442Y	ENSP00000321482:H442Y	H	-	1	0	HRH3	60224471	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.977000	0.56874	2.318000	0.78349	0.561000	0.74099	CAC		0.662	HRH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079994.1	NM_007232		10	32	0	0	0	1	0	10	32				
TROAP	10024	broad.mit.edu	37	12	49724304	49724304	+	Missense_Mutation	SNP	G	G	A	rs201530406		TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr12:49724304G>A	ENST00000257909.3	+	13	1752	c.1676G>A	c.(1675-1677)tGc>tAc	p.C559Y	TROAP_ENST00000551245.1_Missense_Mutation_p.C559Y|TROAP_ENST00000547923.1_Missense_Mutation_p.C267Y	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	559	4 X 33 AA approximate tandem repeats.|Cys-rich.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						CTAGAGTCCTGCTGTAGGAGT	0.597																																						ENST00000551245.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						c.(1675-1677)tGc>tAc		trophinin associated protein							63.0	62.0	63.0					12																	49724304		2203	4300	6503	SO:0001583	missense	10024				cell adhesion	cytoplasm		g.chr12:49724304G>A	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.1676G>A	12.37:g.49724304G>A	ENSP00000257909:p.Cys559Tyr					TROAP_ENST00000547923.1_Missense_Mutation_p.C267Y|TROAP_ENST00000257909.3_Missense_Mutation_p.C559Y	p.C559Y			Q12815	TROAP_HUMAN			13	1787	+			559			4 X 33 AA approximate tandem repeats.|Cys-rich.		F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	ENST00000257909.3	37	c.1676G>A	CCDS8784.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825657	0.32237	.	.	ENSG00000135451	ENST00000551245;ENST00000257909;ENST00000547923	.	.	.	3.47	-2.09	0.07232	.	.	.	.	.	T	0.18173	0.0436	N	0.08118	0	0.09310	N	1	B;B;P	0.35656	0.032;0.013;0.514	B;B;B	0.38056	0.041;0.041;0.264	T	0.23226	-1.0194	8	0.54805	T	0.06	.	6.6643	0.23032	0.0:0.2719:0.3165:0.4116	.	559;267;559	F8W130;F8W1U0;Q12815	.;.;TROAP_HUMAN	Y	559;559;267	.	ENSP00000257909:C559Y	C	+	2	0	TROAP	48010571	0.003000	0.15002	0.000000	0.03702	0.020000	0.10135	-0.260000	0.08708	-0.263000	0.09378	-0.802000	0.03209	TGC		0.597	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		7	477	0	0	0	1	0	7	477				
KCNK6	9424	broad.mit.edu	37	19	38817290	38817290	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr19:38817290C>T	ENST00000263372.3	+	2	487	c.380C>T	c.(379-381)gCg>gTg	p.A127V		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	127					negative regulation of systemic arterial blood pressure (GO:0003085)|potassium ion transport (GO:0006813)|regulation of resting membrane potential (GO:0060075)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	ATCGCCTTTGCGCTCCTGGGC	0.572																																						ENST00000263372.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17						c.(379-381)gCg>gTg		potassium channel, subfamily K, member 6	Ibutilide(DB00308)|Quinidine(DB00908)						84.0	80.0	82.0					19																	38817290		2203	4300	6503	SO:0001583	missense	9424					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:38817290C>T	AF117708	CCDS12513.1	19q13.1	2012-03-07				ENSG00000099337		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6281	protein-coding gene	gene with protein product		603939				10075682, 10393428, 16382106	Standard	NM_004823		Approved	K2p6.1, TWIK-2	uc002oic.3	Q9Y257		ENST00000263372.3:c.380C>T	19.37:g.38817290C>T	ENSP00000263372:p.Ala127Val						p.A127V	NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		2	487	+	all_cancers(60;5.83e-07)		127					Q9HB47	Missense_Mutation	SNP	ENST00000263372.3	37	c.380C>T	CCDS12513.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544415	0.86022	.	.	ENSG00000099337	ENST00000263372	T	0.33216	1.42	5.26	5.26	0.73747	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.54679	0.1873	M	0.66378	2.025	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.57648	-0.7775	10	0.87932	D	0	.	16.3718	0.83365	0.0:1.0:0.0:0.0	.	127	Q9Y257	KCNK6_HUMAN	V	127	ENSP00000263372:A127V	ENSP00000263372:A127V	A	+	2	0	KCNK6	43509130	1.000000	0.71417	0.911000	0.35937	0.358000	0.29455	7.719000	0.84751	2.470000	0.83445	0.561000	0.74099	GCG		0.572	KCNK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460524.1	NM_004823		5	561	0	0	0	1	0	5	561				
ZFYVE28	57732	broad.mit.edu	37	4	2339217	2339217	+	Silent	SNP	G	G	C			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr4:2339217G>C	ENST00000290974.2	-	5	867	c.528C>G	c.(526-528)gtC>gtG	p.V176V	ZFYVE28_ENST00000503000.1_Silent_p.V176V|ZFYVE28_ENST00000515169.1_Silent_p.V106V|ZFYVE28_ENST00000511071.1_Silent_p.V176V|ZFYVE28_ENST00000515312.1_Silent_p.V106V|ZFYVE28_ENST00000509171.1_Silent_p.V129V	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	176					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CCATGGCCGAGACGTAGCTGC	0.597																																						ENST00000290974.2																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						c.(526-528)gtC>gtG		zinc finger, FYVE domain containing 28							64.0	46.0	52.0					4																	2339217		2203	4300	6503	SO:0001819	synonymous_variant	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2339217G>C	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.528C>G	4.37:g.2339217G>C						ZFYVE28_ENST00000509171.1_Silent_p.V129V|ZFYVE28_ENST00000503000.1_Silent_p.V176V|ZFYVE28_ENST00000515312.1_Silent_p.V106V|ZFYVE28_ENST00000515169.1_Silent_p.V106V|ZFYVE28_ENST00000511071.1_Silent_p.V176V	p.V176V	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN			5	867	-			176					B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Silent	SNP	ENST00000290974.2	37	c.528C>G	CCDS33942.1																																																																																				0.597	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		44	185	0	0	0	1	0	44	185				
SLC12A7	10723	broad.mit.edu	37	5	1065446	1065446	+	Missense_Mutation	SNP	C	C	T	rs200431016	byFrequency	TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr5:1065446C>T	ENST00000264930.5	-	18	2432	c.2389G>A	c.(2389-2391)Gca>Aca	p.A797T	MIR4635_ENST00000583759.1_RNA	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	797					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TTCCAGGATGCGGGCCAGGCC	0.657													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		18590	0.0		0.0	False		,,,				2504	0.0					ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(2389-2391)Gca>Aca		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)						65.0	65.0	65.0					5																	1065446		2203	4300	6503	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1065446C>T	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.2389G>A	5.37:g.1065446C>T	ENSP00000264930:p.Ala797Thr						p.A797T	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		18	2432	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		797					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.2389G>A	CCDS34129.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	c|c	3.750|3.750	-0.051821|-0.051821	0.07362|0.07362	.|.	.|.	ENSG00000113504|ENSG00000113504	ENST00000264930|ENST00000513223	D|.	0.82344|.	-1.6|.	4.49|4.49	1.33|1.33	0.21861|0.21861	.|.	0.889086|.	0.09985|.	N|.	0.730476|.	T|T	0.29652|0.29652	0.0740|0.0740	N|N	0.16166|0.16166	0.38|0.38	0.09310|0.09310	N|N	1|1	B|.	0.06786|.	0.001|.	B|.	0.04013|.	0.001|.	T|T	0.21724|0.21724	-1.0237|-1.0237	10|5	0.20519|.	T|.	0.43|.	.|.	14.53|14.53	0.67917|0.67917	0.0:0.3303:0.6696:0.0|0.0:0.3303:0.6696:0.0	.|.	797|.	Q9Y666|.	S12A7_HUMAN|.	T|H	797|154	ENSP00000264930:A797T|.	ENSP00000264930:A797T|.	A|R	-|-	1|2	0|0	SLC12A7|SLC12A7	1118446|1118446	0.000000|0.000000	0.05858|0.05858	0.016000|0.016000	0.15963|0.15963	0.550000|0.550000	0.35303|0.35303	-0.024000|-0.024000	0.12435|0.12435	0.298000|0.298000	0.22638|0.22638	0.467000|0.467000	0.42956|0.42956	GCA|CGC		0.657	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		7	518	0	0	0	1	0	7	518				
NF1	4763	broad.mit.edu	37	17	29556978	29556978	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr17:29556978G>A	ENST00000358273.4	+	22	3359	c.2976G>A	c.(2974-2976)atG>atA	p.M992I	NF1_ENST00000356175.3_Missense_Mutation_p.M992I	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	992					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAACAATGATGTTAAATCTGG	0.338			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(2974-2976)atG>atA		neurofibromin 1							96.0	96.0	96.0					17																	29556978		2203	4296	6499	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29556978G>A		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2976G>A	17.37:g.29556978G>A	ENSP00000351015:p.Met992Ile	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Missense_Mutation_p.M992I	p.M992I	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	22	3359	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	992					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.2976G>A	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	.	23.6	4.434787	0.83885	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.08807	3.23;3.36;3.05	5.46	5.46	0.80206	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.22437	0.0541	M	0.61703	1.905	0.80722	D	1	B;B;P;B	0.39044	0.245;0.038;0.656;0.086	B;B;P;B	0.51777	0.077;0.015;0.679;0.032	T	0.00397	-1.1765	10	0.29301	T	0.29	.	19.3015	0.94145	0.0:0.0:1.0:0.0	.	992;42;992;992	E1P657;Q59FX3;P21359-2;P21359	.;.;.;NF1_HUMAN	I	992;992;658	ENSP00000351015:M992I;ENSP00000348498:M992I;ENSP00000389907:M658I	ENSP00000348498:M992I	M	+	3	0	NF1	26581104	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.434000	0.97515	2.550000	0.86006	0.455000	0.32223	ATG		0.338	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		141	294	0	0	0	1	0	141	294				
TMCO3	55002	broad.mit.edu	37	13	114193716	114193716	+	Silent	SNP	G	G	A			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr13:114193716G>A	ENST00000434316.2	+	10	1943	c.1584G>A	c.(1582-1584)ctG>ctA	p.L528L	TMCO3_ENST00000375391.1_Intron	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	528						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GCTGTTTCCTGGCTGGAGCGC	0.627																																						ENST00000434316.2																			0				NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25						c.(1582-1584)ctG>ctA		transmembrane and coiled-coil domains 3							113.0	91.0	99.0					13																	114193716		2203	4300	6503	SO:0001819	synonymous_variant	55002					integral to membrane	solute:hydrogen antiporter activity	g.chr13:114193716G>A	BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 11"""	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.1584G>A	13.37:g.114193716G>A						TMCO3_ENST00000375391.1_Intron	p.L528L	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	all cancers(43;0.0317)		10	1943	+	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	528					Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Silent	SNP	ENST00000434316.2	37	c.1584G>A	CCDS9537.1																																																																																				0.627	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905		6	325	0	0	0	1	0	6	325				
NDUFS6	4726	broad.mit.edu	37	5	1814533	1814533	+	Silent	SNP	C	C	T			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr5:1814533C>T	ENST00000274137.5	+	3	285	c.267C>T	c.(265-267)ggC>ggT	p.G89G	NDUFS6_ENST00000469176.1_Silent_p.G89G	NM_004553.4	NP_004544.1	O75380	NDUS6_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)	89					cardiovascular system development (GO:0072358)|cellular metabolic process (GO:0044237)|fatty acid metabolic process (GO:0006631)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrion morphogenesis (GO:0070584)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|muscle contraction (GO:0006936)|reproductive system development (GO:0061458)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	electron carrier activity (GO:0009055)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	7						CGTGCGATGGCGGCGGGGGAG	0.542																																						ENST00000274137.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	7						c.(265-267)ggC>ggT		NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						103.0	96.0	98.0					5																	1814533		2203	4300	6503	SO:0001819	synonymous_variant	4726				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity	g.chr5:1814533C>T	BC038664	CCDS3866.1	5p15.33	2011-07-04	2002-08-29		ENSG00000145494	ENSG00000145494	1.6.99.3, 1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7713	protein-coding gene	gene with protein product	"""complex I 13kDa subunit A"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial"""	603848	"""NADH dehydrogenase (ubiquinone) Fe-S protein 6 (13kD) (NADH-coenzyme Q reductase)"""			9763677	Standard	NM_004553		Approved	CI-13kA	uc003jcy.3	O75380	OTTHUMG00000090372	ENST00000274137.5:c.267C>T	5.37:g.1814533C>T						NDUFS6_ENST00000469176.1_Silent_p.G89G	p.G89G	NM_004553.4	NP_004544.1	O75380	NDUS6_HUMAN			3	285	+			89						Silent	SNP	ENST00000274137.5	37	c.267C>T	CCDS3866.1																																																																																				0.542	NDUFS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206744.2	NM_004553		5	504	0	0	0	1	0	5	504				
PHC1	1911	broad.mit.edu	37	12	9085340	9085340	+	Silent	SNP	G	G	A			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr12:9085340G>A	ENST00000543824.1	+	9	1619	c.1287G>A	c.(1285-1287)caG>caA	p.Q429Q	PHC1_ENST00000536844.1_Silent_p.Q208Q|PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000433083.2_Silent_p.Q384Q|PHC1_ENST00000544916.1_Silent_p.Q429Q			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	429	Poly-Gln.				cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						agcagcagcagcaacaacagc	0.622																																						ENST00000433083.2																			0				breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(1150-1152)caG>caA		polyhomeotic homolog 1 (Drosophila)							35.0	42.0	40.0					12																	9085340		2139	4130	6269	SO:0001819	synonymous_variant	1911				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr12:9085340G>A	U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"""Sterile alpha motif (SAM) domain containing"""	3182	protein-coding gene	gene with protein product		602978	"""early development regulator 1 (homolog of polyhomeotic 1)"", ""polyhomeotic-like 1 (Drosophila)"""	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.1287G>A	12.37:g.9085340G>A						PHC1_ENST00000544916.1_Silent_p.Q429Q|PHC1_ENST00000536844.1_Silent_p.Q208Q|PHC1_ENST00000543824.1_Silent_p.Q429Q|PHC1_ENST00000433847.2_3'UTR	p.Q384Q			P78364	PHC1_HUMAN			7	1297	+			429					D3DUV4|Q8WVM3|Q9BU63	Silent	SNP	ENST00000543824.1	37	c.1152G>A	CCDS8597.1	.	.	.	.	.	.	.	.	.	.	G	0.379	-0.929682	0.02359	.	.	ENSG00000111752	ENST00000537610	.	.	.	4.25	0.343	0.16001	.	.	.	.	.	T	0.45478	0.1344	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23904	-1.0175	4	.	.	.	-5.0313	4.2042	0.10481	0.3896:0.1678:0.4427:0.0	.	.	.	.	N	65	.	.	S	+	2	0	PHC1	8976607	0.991000	0.36638	0.997000	0.53966	0.355000	0.29361	0.004000	0.13106	-0.022000	0.13986	0.491000	0.48974	AGC		0.622	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	NM_004426		5	191	0	0	0	1	0	5	191				
CCDC138	165055	broad.mit.edu	37	2	109408155	109408155	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr2:109408155C>A	ENST00000295124.4	+	4	351	c.291C>A	c.(289-291)ttC>ttA	p.F97L	CCDC138_ENST00000412964.2_Missense_Mutation_p.F97L|CCDC138_ENST00000470608.1_Intron	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	97										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						TGGATTCTTTCCATGATTTGA	0.284																																						ENST00000295124.4																			0				endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(289-291)ttC>ttA		coiled-coil domain containing 138							85.0	102.0	97.0					2																	109408155		2198	4280	6478	SO:0001583	missense	165055							g.chr2:109408155C>A	AK057307	CCDS2080.1	2q13	2008-02-05			ENSG00000163006	ENSG00000163006			26531	protein-coding gene	gene with protein product						12477932	Standard	NM_144978		Approved	FLJ32745	uc002ten.1	Q96M89	OTTHUMG00000130980	ENST00000295124.4:c.291C>A	2.37:g.109408155C>A	ENSP00000295124:p.Phe97Leu					CCDC138_ENST00000470608.1_Intron|CCDC138_ENST00000412964.2_Missense_Mutation_p.F97L	p.F97L	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN			4	351	+			97					Q05DF1|Q4ZG07|Q53TE1|Q6ZUY5|Q86VL7	Missense_Mutation	SNP	ENST00000295124.4	37	c.291C>A	CCDS2080.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.767945	0.49680	.	.	ENSG00000163006	ENST00000412964;ENST00000295124	D;D	0.89343	-2.5;-2.5	5.77	2.23	0.28157	.	0.109651	0.41605	D	0.000849	D	0.82921	0.5142	L	0.57536	1.79	0.28993	N	0.887908	B;B	0.11235	0.004;0.004	B;B	0.16722	0.016;0.006	T	0.70364	-0.4892	10	0.30854	T	0.27	-4.7079	4.117	0.10086	0.0:0.2723:0.1735:0.5541	.	97;97	Q96M89-2;Q96M89	.;CC138_HUMAN	L	97	ENSP00000411800:F97L;ENSP00000295124:F97L	ENSP00000295124:F97L	F	+	3	2	CCDC138	108774587	0.060000	0.20803	0.998000	0.56505	0.443000	0.32047	-0.082000	0.11304	0.471000	0.27319	-0.302000	0.09304	TTC		0.284	CCDC138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253593.1	NM_144978		111	162	1	0	3.60366e-59	1	3.9363e-59	111	162				
HLA-DQB2	3120	broad.mit.edu	37	6	32725596	32725596	+	Silent	SNP	C	C	G	rs34988824	byFrequency	TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr6:32725596C>G	ENST00000437316.2	-	4	774	c.711G>C	c.(709-711)ctG>ctC	p.L237L	HLA-DQB2_ENST00000435145.2_Silent_p.L237L|HLA-DQB2_ENST00000411527.1_Intron			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	241					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CGAGGAAGATCAGCCCCAGCA	0.562																																						ENST00000435145.2																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(709-711)ctG>ctC		major histocompatibility complex, class II, DQ beta 2																																				SO:0001819	synonymous_variant	3120				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex		g.chr6:32725596C>G	M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.711G>C	6.37:g.32725596C>G						HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Silent_p.L237L	p.L237L			Q5SR06	Q5SR06_HUMAN			4	772	-			216					A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Silent	SNP	ENST00000437316.2	37	c.711G>C																																																																																					0.562	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2			9	70	0	0	0	1	0	9	70				
KMT2E	55904	broad.mit.edu	37	7	104747966	104747966	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr7:104747966C>T	ENST00000311117.3	+	22	3607	c.3062C>T	c.(3061-3063)tCa>tTa	p.S1021L	KMT2E_ENST00000334914.7_Missense_Mutation_p.S76L|KMT2E_ENST00000334877.4_Missense_Mutation_p.S1021L|KMT2E_ENST00000257745.4_Missense_Mutation_p.S1021L|CTB-152G17.6_ENST00000607968.1_RNA	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1021					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										GAACCTGTGTCAGACCTTCAG	0.507																																						ENST00000334877.4																			0											c.(3061-3063)tCa>tTa		lysine (K)-specific methyltransferase 2E							97.0	97.0	97.0					7																	104747966		2203	4300	6503	SO:0001583	missense	55904							g.chr7:104747966C>T	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.3062C>T	7.37:g.104747966C>T	ENSP00000312379:p.Ser1021Leu					KMT2E_ENST00000257745.4_Missense_Mutation_p.S1021L|KMT2E_ENST00000334914.7_Missense_Mutation_p.S76L|KMT2E_ENST00000311117.3_Missense_Mutation_p.S1021L	p.S1021L							22	3596	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.3062C>T	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558645	0.65538	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000334914	D;D;D;T	0.93019	-3.15;-2.67;-3.15;0.46	6.03	6.03	0.97812	.	0.431841	0.22027	N	0.065650	D	0.89083	0.6614	L	0.27053	0.805	0.47476	D	0.999435	P	0.43094	0.799	B	0.35039	0.194	D	0.90033	0.4136	10	0.87932	D	0	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	1021	Q8IZD2	MLL5_HUMAN	L	1021;1021;1021;941;1021;76	ENSP00000312379:S1021L;ENSP00000335599:S1021L;ENSP00000257745:S1021L;ENSP00000333986:S76L	ENSP00000257745:S1021L	S	+	2	0	MLL5	104535202	1.000000	0.71417	0.989000	0.46669	0.673000	0.39480	5.764000	0.68826	2.854000	0.98071	0.655000	0.94253	TCA		0.507	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			104	238	0	0	0	1	0	104	238				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			6	135	0	0	0	1	0	6	135				
ARMC9	80210	broad.mit.edu	37	2	232104736	232104736	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr2:232104736C>A	ENST00000349938.4	+	9	1055	c.861C>A	c.(859-861)gaC>gaA	p.D287E	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	287						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		ATAGTGTGGACTTCACGAGGC	0.532																																						ENST00000349938.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(859-861)gaC>gaA		armadillo repeat containing 9							69.0	55.0	60.0					2																	232104736		2203	4300	6503	SO:0001583	missense	80210						binding	g.chr2:232104736C>A	BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"""Armadillo repeat containing"""	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.861C>A	2.37:g.232104736C>A	ENSP00000258417:p.Asp287Glu					ARMC9_ENST00000483477.1_3'UTR	p.D287E	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)	9	1055	+		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)	287					Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Missense_Mutation	SNP	ENST00000349938.4	37	c.861C>A	CCDS2484.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759836	0.69763	.	.	ENSG00000135931	ENST00000349938;ENST00000359743;ENST00000444285	T;T	0.50813	0.73;0.73	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.62575	0.2439	M	0.71581	2.175	0.51482	D	0.999927	D	0.54964	0.969	P	0.55303	0.773	T	0.67856	-0.5562	10	0.72032	D	0.01	-14.5309	16.518	0.84306	0.0:1.0:0.0:0.0	.	287	Q7Z3E5	ARMC9_HUMAN	E	287;287;41	ENSP00000258417:D287E;ENSP00000407146:D41E	ENSP00000258417:D287E	D	+	3	2	ARMC9	231812980	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.237000	0.58681	2.309000	0.77851	0.561000	0.74099	GAC		0.532	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	NM_025139		4	59	1	0	1	1	1	4	59				
UBN2	254048	broad.mit.edu	37	7	138944016	138944016	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr7:138944016C>T	ENST00000473989.3	+	5	805	c.805C>T	c.(805-807)Ccc>Tcc	p.P269S	UBN2_ENST00000288561.8_Missense_Mutation_p.P186S	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	269	Lys-rich.					extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TTTGCAGGTCCCCAAAATAAA	0.383																																						ENST00000288561.8																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						c.(556-558)Ccc>Tcc		ubinuclein 2							89.0	93.0	91.0					7																	138944016		1831	4088	5919	SO:0001583	missense	254048							g.chr7:138944016C>T	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.805C>T	7.37:g.138944016C>T	ENSP00000418648:p.Pro269Ser					UBN2_ENST00000473989.2_Missense_Mutation_p.P269S	p.P186S	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN			5	805	+			269					A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	c.556C>T	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.461154	0.01062	.	.	ENSG00000157741	ENST00000486663;ENST00000473989;ENST00000288561	T;T;T	0.20598	2.06;2.06;2.06	5.34	3.33	0.38152	.	0.684498	0.15499	N	0.259112	T	0.07548	0.0190	N	0.02802	-0.49	0.27338	N	0.956584	B	0.02656	0.0	B	0.04013	0.001	T	0.31110	-0.9955	10	0.22706	T	0.39	-0.0601	5.2112	0.15318	0.0:0.5827:0.1938:0.2235	.	269	Q6ZU65	UBN2_HUMAN	S	92;269;186	ENSP00000417849:P92S;ENSP00000418648:P269S;ENSP00000288561:P186S	ENSP00000288561:P186S	P	+	1	0	UBN2	138594556	1.000000	0.71417	1.000000	0.80357	0.124000	0.20399	1.125000	0.31332	0.859000	0.35456	0.650000	0.86243	CCC		0.383	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		59	162	0	0	0	1	0	59	162				
LRRC37A6P	387646	broad.mit.edu	37	10	27536507	27536507	+	lincRNA	SNP	G	G	T			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr10:27536507G>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							CTCCCTTGGGGCTGGACTCCC	0.537																																						ENST00000574842.1																			0																																																			0							g.chr10:27536507G>T																													10.37:g.27536507G>T						LRRC37A6P_ENST00000284414.4_RNA								0	255	+									RNA	SNP	ENST00000574842.1	37																																																																																						0.537	RP11-85G18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436904.1			55	69	1	0	3.37225e-12	1	3.57357e-12	55	69				
FRG1B	284802	broad.mit.edu	37	20	29625905	29625905	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr20:29625905T>C	ENST00000278882.3	+	5	529	c.149T>C	c.(148-150)cTt>cCt	p.L50P	FRG1B_ENST00000358464.4_Missense_Mutation_p.L50P|FRG1B_ENST00000439954.2_Missense_Mutation_p.L55P			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	50								p.L50P(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGAAAATATCTTGGTATAAAT	0.333																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L50P(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(148-150)cTt>cCt																																						SO:0001583	missense	0							g.chr20:29625905T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.149T>C	20.37:g.29625905T>C	ENSP00000278882:p.Leu50Pro					FRG1B_ENST00000358464.4_Missense_Mutation_p.L50P|FRG1B_ENST00000439954.2_Missense_Mutation_p.L55P	p.L50P							5	529	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.149T>C		.	.	.	.	.	.	.	.	.	.	t	10.74	1.434729	0.25813	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.56611	0.45	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.67316	0.2880	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68300	-0.5445	9	0.87932	D	0	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	55	F5H5R5	.	P	50;55;50	ENSP00000408863:L55P	ENSP00000278882:L50P	L	+	2	0	FRG1B	28239566	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	6.623000	0.74238	1.028000	0.39785	0.155000	0.16302	CTT		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	521	0	0	0	1	0	6	521				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29628245G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T	p.A83T							6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	526	0	0	0	1	0	5	526				
ZNF334	55713	broad.mit.edu	37	20	45133322	45133322	+	Silent	SNP	G	G	A			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr20:45133322G>A	ENST00000347606.4	-	3	261	c.79C>T	c.(79-81)Ctg>Ttg	p.L27L	ZNF334_ENST00000457685.2_5'UTR|ZNF334_ENST00000593880.1_Missense_Mutation_p.T32I	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	27	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GCAGGGTCCAGTTGCTGCCAT	0.468																																						ENST00000593880.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32						c.(94-96)aCt>aTt		zinc finger protein 334							99.0	91.0	94.0					20																	45133322		2203	4300	6503	SO:0001819	synonymous_variant	55713				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:45133322G>A	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.79C>T	20.37:g.45133322G>A						ZNF334_ENST00000347606.4_Silent_p.L27L|ZNF334_ENST00000457685.2_5'UTR	p.T32I			Q9HCZ1	ZN334_HUMAN			2	389	-		Myeloproliferative disorder(115;0.0122)	0			KRAB.		Q5T6U2|Q9NVW4	Missense_Mutation	SNP	ENST00000347606.4	37	c.95C>T	CCDS33480.1																																																																																				0.468	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			120	455	0	0	0	1	0	120	455				
NKIRAS2	28511	broad.mit.edu	37	17	40174482	40174482	+	Nonsense_Mutation	SNP	C	C	T			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr17:40174482C>T	ENST00000307641.5	+	3	781	c.160C>T	c.(160-162)Cga>Tga	p.R54*	NKIRAS2_ENST00000393880.1_Nonsense_Mutation_p.R54*|NKIRAS2_ENST00000393885.4_Nonsense_Mutation_p.R54*|NKIRAS2_ENST00000393881.3_Nonsense_Mutation_p.R54*|NKIRAS2_ENST00000479407.1_Nonsense_Mutation_p.R54*|NKIRAS2_ENST00000316082.4_Nonsense_Mutation_p.R54*|NKIRAS2_ENST00000462043.2_Intron|NKIRAS2_ENST00000393884.2_Nonsense_Mutation_p.R52*|NKIRAS2_ENST00000449471.4_Nonsense_Mutation_p.R54*	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2	54	Small GTPase-like.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				CCGGGGGGTGCGAGAGCAGGT	0.562																																						ENST00000307641.5																			0				large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(160-162)Cga>Tga		NFKB inhibitor interacting Ras-like 2							46.0	45.0	45.0					17																	40174482		2203	4300	6503	SO:0001587	stop_gained	28511				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity	g.chr17:40174482C>T	AF229840	CCDS11415.1, CCDS45679.1, CCDS45680.1	17q21.31	2014-05-09	2004-05-20		ENSG00000168256	ENSG00000168256			17898	protein-coding gene	gene with protein product		604497	"""NFKB inhibitor interacting Ras-like protein 2"""			10657303	Standard	NM_001001349		Approved	KBRAS2, DKFZP434N1526, kappaB-Ras2	uc002hys.3	Q9NYR9	OTTHUMG00000133503	ENST00000307641.5:c.160C>T	17.37:g.40174482C>T	ENSP00000303580:p.Arg54*					NKIRAS2_ENST00000393880.1_Nonsense_Mutation_p.R54*|NKIRAS2_ENST00000316082.4_Nonsense_Mutation_p.R54*|NKIRAS2_ENST00000462043.2_Intron|NKIRAS2_ENST00000449471.4_Nonsense_Mutation_p.R54*|NKIRAS2_ENST00000393885.4_Nonsense_Mutation_p.R54*|NKIRAS2_ENST00000479407.1_Nonsense_Mutation_p.R54*|NKIRAS2_ENST00000393881.3_Nonsense_Mutation_p.R54*|NKIRAS2_ENST00000393884.2_Nonsense_Mutation_p.R52*	p.R54*	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN			3	781	+		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)	54			Small GTPase-like.		A6NCZ5|B3KNN0|B4DNM3|Q6PK52|Q96KC7|Q9NSX1	Nonsense_Mutation	SNP	ENST00000307641.5	37	c.160C>T	CCDS11415.1	.	.	.	.	.	.	.	.	.	.	C	36	5.790440	0.96945	.	.	ENSG00000168256	ENST00000307641;ENST00000393884;ENST00000449471;ENST00000393880;ENST00000393881;ENST00000393885;ENST00000462043;ENST00000316082	.	.	.	5.53	4.5	0.54988	.	0.050230	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-16.1585	13.3788	0.60757	0.2738:0.7262:0.0:0.0	.	.	.	.	X	54;52;54;54;54;54;54;54	.	ENSP00000303580:R54X	R	+	1	2	NKIRAS2	37428008	0.410000	0.25376	1.000000	0.80357	0.987000	0.75469	0.039000	0.13884	2.775000	0.95449	0.585000	0.79938	CGA		0.562	NKIRAS2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257457.1	NM_017595		4	235	0	0	0	1	0	4	235				
SNAP47	116841	broad.mit.edu	37	1	227935772	227935772	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr1:227935772C>T	ENST00000366759.4	+	2	884	c.470C>T	c.(469-471)gCa>gTa	p.A157V	SNAP47-AS1_ENST00000413347.2_RNA|SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000315781.5_Missense_Mutation_p.A157V	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	157	t-SNARE coiled-coil homology 1. {ECO:0000255|PROSITE-ProRule:PRU00202}.				long-term synaptic potentiation (GO:0060291)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GTGGCAGACGCATCTGTCCCA	0.632																																						ENST00000366759.4																			0				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(469-471)gCa>gTa		synaptosomal-associated protein, 47kDa							47.0	44.0	45.0					1																	227935772		2203	4300	6503	SO:0001583	missense	116841					endomembrane system|membrane|perinuclear region of cytoplasm		g.chr1:227935772C>T	AY090635	CCDS1562.1	1q42.13	2013-10-11	2008-10-27	2008-10-27	ENSG00000143740	ENSG00000143740			30669	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 142"""	C1orf142		16621800	Standard	NM_053052		Approved	SVAP1, SNAP-47	uc001hrf.2	Q5SQN1	OTTHUMG00000037697	ENST00000366759.4:c.470C>T	1.37:g.227935772C>T	ENSP00000355721:p.Ala157Val					SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000315781.5_Missense_Mutation_p.A157V	p.A157V	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN			2	884	+			157			t-SNARE coiled-coil homology 1.		B6EDE0|Q5HYB5|Q5TBZ3|Q8N558|Q8TB31|Q8TCW8|Q8WV46|Q96CQ3|Q96FE1|Q96I66|Q96NU3|Q9BT10|Q9BVB2	Missense_Mutation	SNP	ENST00000366759.4	37	c.470C>T	CCDS1562.1	.	.	.	.	.	.	.	.	.	.	C	0.152	-1.089923	0.01873	.	.	ENSG00000143740	ENST00000366759;ENST00000315781	T;T	0.44482	0.92;0.92	3.96	-4.42	0.03579	.	0.998350	0.08105	N	0.997028	T	0.20700	0.0498	N	0.17082	0.46	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.001	T	0.11792	-1.0573	10	0.36615	T	0.2	-13.2486	2.9831	0.05960	0.11:0.4242:0.1085:0.3573	.	157;157	Q5SQN1;Q5SQN1-2	SNP47_HUMAN;.	V	157	ENSP00000355721:A157V;ENSP00000314157:A157V	ENSP00000314157:A157V	A	+	2	0	SNAP47	226002395	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.119000	0.10676	-1.903000	0.01093	-1.579000	0.00862	GCA		0.632	SNAP47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091961.1	NM_053052		95	79	0	0	0	1	0	95	79				
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q					mastermind-like 3 (Drosophila)									p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542																																						ENST00000398940.1																			2	Substitution - coding silent(2)	p.Q497Q(2)	prostate(2)	breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.e1+1		mastermind-like 3 (Drosophila)							13.0	19.0	17.0					4																	140811099		2117	4226	6343	SO:0001630	splice_region_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811099C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000398940.1:c.108+1G>A	4.37:g.140811099C>T						MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q	p.Q36_splice			Q96JK9	MAML3_HUMAN			1	107	-	all_hematologic(180;0.162)		497						Splice_Site	SNP	ENST00000398940.1	37	c.108_splice																																																																																					0.542	MAML3-202	KNOWN	basic	protein_coding	protein_coding			Silent	4	176	0	0	0	1	0	4	176				
ATRX	546	broad.mit.edu	37	X	76778782	76778782	+	Missense_Mutation	SNP	A	A	C			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chrX:76778782A>C	ENST00000373344.5	-	31	7011	c.6797T>G	c.(6796-6798)tTg>tGg	p.L2266W	ATRX_ENST00000395603.3_Missense_Mutation_p.L2228W|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2266	Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTCTTCAGTCAACTCTTCTTC	0.373			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		0				bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(6796-6798)tTg>tGg		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						247.0	202.0	217.0					X																	76778782		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76778782A>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6797T>G	X.37:g.76778782A>C	ENSP00000362441:p.Leu2266Trp					ATRX_ENST00000395603.3_Missense_Mutation_p.L2228W|ATRX_ENST00000480283.1_5'UTR	p.L2266W	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			31	7011	-			2266					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.6797T>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	A	14.48	2.547561	0.45383	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.95724	-3.79;-3.79	5.35	5.35	0.76521	.	0.000000	0.53938	U	0.000054	D	0.97742	0.9259	M	0.84846	2.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.98541	1.0632	10	0.87932	D	0	-2.7499	14.4136	0.67135	1.0:0.0:0.0:0.0	.	2228;2266	P46100-4;P46100	.;ATRX_HUMAN	W	2266;2228	ENSP00000362441:L2266W;ENSP00000378967:L2228W	ENSP00000362441:L2266W	L	-	2	0	ATRX	76665438	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	8.957000	0.93082	1.784000	0.52394	0.437000	0.28790	TTG		0.373	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		358	13	0	0	0	1	0	358	13				
NAA16	79612	broad.mit.edu	37	13	41929345	41929345	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr13:41929345C>A	ENST00000379406.3	+	10	1404	c.1080C>A	c.(1078-1080)agC>agA	p.S360R	NAA16_ENST00000403412.3_Missense_Mutation_p.S360R|RNU6-57P_ENST00000411348.1_RNA|NAA16_ENST00000379367.3_Missense_Mutation_p.S360R	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	360					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						ACTTTTTTAGCCCATATGGTA	0.264																																						ENST00000379406.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						c.(1078-1080)agC>agA		N(alpha)-acetyltransferase 16, NatA auxiliary subunit							89.0	102.0	97.0					13																	41929345		2202	4289	6491	SO:0001583	missense	79612				N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	g.chr13:41929345C>A	AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"""N(alpha)-acetyltransferase subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	26164	protein-coding gene	gene with protein product			"""NMDA receptor regulated 1-like"""	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.1080C>A	13.37:g.41929345C>A	ENSP00000368716:p.Ser360Arg					NAA16_ENST00000379367.3_Missense_Mutation_p.S360R|NAA16_ENST00000403412.3_Missense_Mutation_p.S360R	p.S360R	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN			10	1404	+			360					B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	ENST00000379406.3	37	c.1080C>A	CCDS9379.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.960831	0.34565	.	.	ENSG00000172766	ENST00000379367;ENST00000379406;ENST00000403412	T;T;T	0.47869	0.83;0.83;0.83	5.23	0.992	0.19819	.	0.125139	0.53938	D	0.000043	T	0.51584	0.1683	M	0.76170	2.325	0.42341	D	0.992332	P;B	0.36909	0.573;0.127	P;B	0.45794	0.493;0.326	T	0.45991	-0.9223	10	0.22109	T	0.4	-3.9933	10.8813	0.46939	0.0:0.6107:0.0:0.3893	.	360;360	Q6N069;Q6N069-4	NAA16_HUMAN;.	R	360	ENSP00000368674:S360R;ENSP00000368716:S360R;ENSP00000386103:S360R	ENSP00000368674:S360R	S	+	3	2	NAA16	40827345	0.001000	0.12720	1.000000	0.80357	0.946000	0.59487	-0.594000	0.05733	0.232000	0.21100	0.655000	0.94253	AGC		0.264	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2	NM_018527		118	516	1	0	4.55767e-64	1	5.05616e-64	118	516				
ACAD10	80724	broad.mit.edu	37	12	112165781	112165781	+	Silent	SNP	C	C	T			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr12:112165781C>T	ENST00000313698.4	+	9	1232	c.1077C>T	c.(1075-1077)ccC>ccT	p.P359P	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Silent_p.P359P|ACAD10_ENST00000392636.2_Intron|ACAD10_ENST00000455480.2_Silent_p.P390P	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	359						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TTGGCACCCCCTTCTATGTGA	0.517																																						ENST00000455480.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						c.(1168-1170)ccC>ccT		acyl-CoA dehydrogenase family, member 10							185.0	172.0	176.0					12																	112165781		2203	4300	6503	SO:0001819	synonymous_variant	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112165781C>T	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.1077C>T	12.37:g.112165781C>T						ACAD10_ENST00000549590.1_Silent_p.P359P|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Intron|ACAD10_ENST00000313698.4_Silent_p.P359P	p.P390P	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN			10	1347	+			359					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Silent	SNP	ENST00000313698.4	37	c.1170C>T	CCDS31903.1																																																																																				0.517	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		391	558	0	0	0	1	0	391	558				
GCG	2641	broad.mit.edu	37	2	163003928	163003928	+	Silent	SNP	G	G	A	rs200358995		TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr2:163003928G>A	ENST00000418842.2	-	3	443	c.189C>T	c.(187-189)agC>agT	p.S63S	GCG_ENST00000375497.3_Silent_p.S63S	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	63					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|protein kinase A signaling (GO:0010737)|regulation of insulin secretion (GO:0050796)|response to starvation (GO:0042594)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)	glucagon receptor binding (GO:0031769)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						CCAGATACTTGCTGTAGTCAC	0.488																																						ENST00000418842.2																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						c.(187-189)agC>agT		glucagon	Exenatide(DB01276)|Phentolamine(DB00692)						244.0	242.0	242.0					2																	163003928		2027	4193	6220	SO:0001819	synonymous_variant	2641				cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity	g.chr2:163003928G>A		CCDS46439.1	2q36-q37	2013-02-26			ENSG00000115263	ENSG00000115263		"""Endogenous ligands"""	4191	protein-coding gene	gene with protein product	"""glicentin-related polypeptide"", ""glucagon-like peptide 1"", ""glucagon-like peptide 2"", ""preproglucagon"""	138030				2753890, 3725587	Standard	NM_002054		Approved	GLP1, GLP2, GRPP	uc002ucc.4	P01275	OTTHUMG00000153892	ENST00000418842.2:c.189C>T	2.37:g.163003928G>A						GCG_ENST00000375497.3_Silent_p.S63S	p.S63S	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN			3	443	-			63					A6NN65|Q53TP6	Silent	SNP	ENST00000418842.2	37	c.189C>T	CCDS46439.1																																																																																				0.488	GCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332860.1	NM_002054		97	568	0	0	0	1	0	97	568				
CDR1	1038	broad.mit.edu	37	X	139866027	139866027	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chrX:139866027G>A	ENST00000370532.2	-	1	696	c.505C>T	c.(505-507)Cgt>Tgt	p.R169C		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	169	6 X 6 AA approximate repeats.							p.R169C(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				GAAAATCCACGTCTTCCCAAC	0.423																																						ENST00000370532.2																			1	Substitution - Missense(1)	p.R169C(1)	prostate(1)	breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25						c.(505-507)Cgt>Tgt		cerebellar degeneration-related protein 1, 34kDa							145.0	149.0	148.0					X																	139866027		2203	4300	6503	SO:0001583	missense	1038							g.chrX:139866027G>A		CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"""Cerebellar degeneration-related protein-1 (34kD)"""	302650	"""cerebellar degeneration-related protein (34kD)"""	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.505C>T	X.37:g.139866027G>A	ENSP00000359563:p.Arg169Cys						p.R169C	NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN			1	696	-	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)	169			6 X 6 AA approximate repeats.		Q5JXH6	Missense_Mutation	SNP	ENST00000370532.2	37	c.505C>T	CCDS14670.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.040083	0.55003	.	.	ENSG00000184258	ENST00000370532	.	.	.	4.07	1.25	0.21368	.	.	.	.	.	T	0.16171	0.0389	N	0.08118	0	0.19775	N	0.999952	B	0.20780	0.048	B	0.13407	0.009	T	0.28713	-1.0035	7	.	.	.	.	6.8292	0.23900	0.3522:0.0:0.6478:0.0	.	169	P51861	CDR1_HUMAN	C	169	.	.	R	-	1	0	CDR1	139693693	0.003000	0.15002	0.069000	0.20011	0.236000	0.25371	-0.134000	0.10436	0.303000	0.22785	0.292000	0.19580	CGT		0.423	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058583.1	NM_004065		10	299	0	0	0	1	0	10	299				
SMARCE1	6605	broad.mit.edu	37	17	38788474	38788474	+	Silent	SNP	C	C	T			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr17:38788474C>T	ENST00000348513.6	-	8	1467	c.687G>A	c.(685-687)cgG>cgA	p.R229R	KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000580419.1_Silent_p.R194R|SMARCE1_ENST00000544009.1_Silent_p.R159R|SMARCE1_ENST00000578044.1_Silent_p.R159R|SMARCE1_ENST00000377808.4_Silent_p.R194R|SMARCE1_ENST00000431889.2_Silent_p.R211R|SMARCE1_ENST00000400122.3_Silent_p.R159R	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	229					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|metabolic process (GO:0008152)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|N-acetyltransferase activity (GO:0008080)|protein N-terminus binding (GO:0047485)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)			large_intestine(1)	1		Breast(137;0.000812)				ACTGGACCTGCCGTTTGAGGA	0.448																																						ENST00000348513.6																			0				large_intestine(1)	1						c.(685-687)cgG>cgA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1							131.0	113.0	119.0					17																	38788474		2203	4300	6503	SO:0001819	synonymous_variant	6605				chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity	g.chr17:38788474C>T	AF035262	CCDS11370.1	17q21.2	2006-09-20			ENSG00000073584	ENSG00000073584			11109	protein-coding gene	gene with protein product		603111				9435219	Standard	NM_003079		Approved	BAF57	uc002hux.2	Q969G3	OTTHUMG00000133367	ENST00000348513.6:c.687G>A	17.37:g.38788474C>T						SMARCE1_ENST00000400122.3_Silent_p.R159R|SMARCE1_ENST00000377808.4_Silent_p.R194R|SMARCE1_ENST00000578044.1_Silent_p.R159R|SMARCE1_ENST00000580419.1_Silent_p.R194R|SMARCE1_ENST00000544009.1_Silent_p.R159R|SMARCE1_ENST00000431889.2_Silent_p.R211R|KRT222_ENST00000476049.1_3'UTR	p.R229R	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN			8	1467	-		Breast(137;0.000812)	229					B3KMC1|B4DFR4|C0IMW4|C0IMW5|C0IMW7|H7C3F6|O43539	Silent	SNP	ENST00000348513.6	37	c.687G>A	CCDS11370.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.23|10.23	1.292735|1.292735	0.23564|0.23564	.|.	.|.	ENSG00000073584|ENSG00000073584	ENST00000264640|ENST00000400122	.|.	.|.	.|.	5.63|5.63	-3.17|-3.17	0.05202|0.05202	.|.	.|.	.|.	.|.	.|.	T|T	0.51210|0.51210	0.1661|0.1661	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.48864|0.48864	-0.8997|-0.8997	4|4	.|.	.|.	.|.	.|.	8.022|8.022	0.30415|0.30415	0.0:0.2076:0.4192:0.3732|0.0:0.2076:0.4192:0.3732	.|.	.|.	.|.	.|.	T|D	43|55	.|.	.|.	A|G	-|-	1|2	0|0	SMARCE1|SMARCE1	36042000|36042000	0.866000|0.866000	0.29940|0.29940	0.992000|0.992000	0.48379|0.48379	0.996000|0.996000	0.88848|0.88848	-0.363000|-0.363000	0.07593|0.07593	-0.355000|-0.355000	0.08199|0.08199	-0.290000|-0.290000	0.09829|0.09829	GCA|GGC		0.448	SMARCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257203.1	NM_003079		6	493	0	0	0	1	0	6	493				
DAZAP1	26528	broad.mit.edu	37	19	1428858	1428858	+	Silent	SNP	T	T	A			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr19:1428858T>A	ENST00000233078.4	+	8	725	c.564T>A	c.(562-564)gcT>gcA	p.A188A	DAZAP1_ENST00000586579.1_3'UTR|DAZAP1_ENST00000336761.6_Silent_p.A188A	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	188	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|maternal placenta development (GO:0001893)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTAAACGAGCTGAGCCTCGGG	0.627																																						ENST00000336761.6																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9						c.(562-564)gcT>gcA		DAZ associated protein 1							39.0	47.0	45.0					19																	1428858		2203	4300	6503	SO:0001819	synonymous_variant	26528				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:1428858T>A		CCDS12065.1, CCDS12066.1	19p13.3	2013-07-16			ENSG00000071626	ENSG00000071626		"""RNA binding motif (RRM) containing"""	2683	protein-coding gene	gene with protein product	"""deleted in azoospermia associated protein 1"""	607430				10857750, 23658607	Standard	XM_005259530		Approved	MGC19907	uc002lsn.3	Q96EP5		ENST00000233078.4:c.564T>A	19.37:g.1428858T>A						DAZAP1_ENST00000233078.4_Silent_p.A188A|DAZAP1_ENST00000586579.1_3'UTR	p.A188A	NM_170711.1	NP_733829.1	Q96EP5	DAZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	769	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	188			RRM 2.		Q96MJ3|Q9NRR9	Silent	SNP	ENST00000233078.4	37	c.564T>A	CCDS12065.1																																																																																				0.627	DAZAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449522.3	NM_170711		30	289	0	0	0	1	0	30	289				
KCNK7	10089	broad.mit.edu	37	11	65360906	65360906	+	Intron	SNP	C	C	G			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr11:65360906C>G	ENST00000340313.4	-	2	942				KCNK7_ENST00000394217.2_Intron|AP001362.1_ENST00000597463.1_5'Flank|KCNK7_ENST00000342202.4_Intron|KCNK7_ENST00000394216.2_Missense_Mutation_p.K253N	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7						potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			endometrium(1)|liver(1)|lung(1)	3						CCAGGCTCCTCTTCCCCCTTC	0.652																																						ENST00000394216.2																			0				endometrium(1)|liver(1)|lung(1)	3						c.(757-759)aaG>aaC		potassium channel, subfamily K, member 7							60.0	64.0	63.0					11																	65360906		2201	4297	6498	SO:0001627	intron_variant	10089					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr11:65360906C>G	AF110522	CCDS8106.1, CCDS31608.1, CCDS41673.1	11q13	2012-03-07			ENSG00000173338	ENSG00000173338		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6282	protein-coding gene	gene with protein product		603940				10206991, 11256078, 16382106	Standard	NM_033347		Approved	K2p7.1	uc001oes.3	Q9Y2U2	OTTHUMG00000166528	ENST00000340313.4:c.718+40G>C	11.37:g.65360906C>G						KCNK7_ENST00000340313.4_Intron|KCNK7_ENST00000342202.4_Intron|KCNK7_ENST00000394217.2_Intron	p.K253N	NM_005714.1|NM_033455.1	NP_005705.1|NP_258416.1	Q9Y2U2	KCNK7_HUMAN			2	982	-			0					Q3SYI2|Q9Y2U3|Q9Y2U4	Missense_Mutation	SNP	ENST00000340313.4	37	c.759G>C	CCDS31608.1	.	.	.	.	.	.	.	.	.	.	C	6.829	0.522040	0.13005	.	.	ENSG00000173338	ENST00000394216	T	0.19250	2.16	3.75	0.786	0.18590	.	.	.	.	.	T	0.11110	0.0271	.	.	.	0.09310	N	1	B	0.18166	0.026	B	0.11329	0.006	T	0.36529	-0.9744	7	.	.	.	.	5.7016	0.17885	0.0:0.642:0.0:0.358	.	253	Q9Y2U2-3	.	N	253	ENSP00000377764:K253N	.	K	-	3	2	KCNK7	65117482	0.002000	0.14202	0.000000	0.03702	0.017000	0.09413	0.798000	0.27014	0.069000	0.16605	0.561000	0.74099	AAG		0.652	KCNK7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390206.1	NM_005714		81	97	0	0	0	1	0	81	97				
SND1	27044	broad.mit.edu	37	7	127732106	127732106	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr7:127732106G>A	ENST00000354725.3	+	24	2923	c.2729G>A	c.(2728-2730)cGc>cAc	p.R910H		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	910					gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						GGCTACAGCCGCTAAGGAGGG	0.557																																						ENST00000354725.3																			0				central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						c.(2728-2730)cGc>cAc		staphylococcal nuclease and tudor domain containing 1							95.0	98.0	97.0					7																	127732106		2203	4300	6503	SO:0001583	missense	27044				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	g.chr7:127732106G>A		CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.2729G>A	7.37:g.127732106G>A	ENSP00000346762:p.Arg910His						p.R910H	NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN			24	2923	+			910					Q13122|Q96AG0	Missense_Mutation	SNP	ENST00000354725.3	37	c.2729G>A	CCDS34747.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.701550	0.88924	.	.	ENSG00000197157	ENST00000354725;ENST00000438400	T	0.34472	1.36	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.53318	0.1789	L	0.55990	1.75	0.50467	D	0.99987	D	0.89917	1.0	D	0.68621	0.959	T	0.55373	-0.8151	10	0.72032	D	0.01	.	13.9031	0.63817	0.0:0.0:1.0:0.0	.	910	Q7KZF4	SND1_HUMAN	H	910;900	ENSP00000346762:R910H	ENSP00000346762:R910H	R	+	2	0	SND1	127519342	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.395000	0.79876	2.418000	0.82041	0.455000	0.32223	CGC		0.557	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390		6	556	0	0	0	1	0	6	556				
FN1	2335	broad.mit.edu	37	2	216288219	216288219	+	Missense_Mutation	SNP	T	T	C	rs181283286	byFrequency	TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr2:216288219T>C	ENST00000359671.1	-	9	1512	c.1247A>G	c.(1246-1248)aAt>aGt	p.N416S	FN1_ENST00000354785.4_Missense_Mutation_p.N416S|FN1_ENST00000323926.6_Missense_Mutation_p.N416S|FN1_ENST00000432072.2_Missense_Mutation_p.N416S|FN1_ENST00000346544.3_Missense_Mutation_p.N416S|FN1_ENST00000426059.1_Missense_Mutation_p.N416S|FN1_ENST00000357009.2_Missense_Mutation_p.N416S|FN1_ENST00000356005.4_Missense_Mutation_p.N416S|FN1_ENST00000357867.4_Missense_Mutation_p.N416S|FN1_ENST00000446046.1_Missense_Mutation_p.N416S|FN1_ENST00000443816.1_Missense_Mutation_p.N416S|FN1_ENST00000421182.1_Missense_Mutation_p.N416S|FN1_ENST00000336916.4_Missense_Mutation_p.N416S|FN1_ENST00000345488.5_Missense_Mutation_p.N416S			P02751	FINC_HUMAN	fibronectin 1	416	Collagen-binding.|Fibronectin type-II 2. {ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CAAGGCACCATTGGAATTTCC	0.448													T|||	3	0.000599042	0.0008	0.0014	5008	,	,		17701	0.0		0.0	False		,,,				2504	0.001					ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(1246-1248)aAt>aGt		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						117.0	105.0	109.0					2																	216288219		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216288219T>C		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.1247A>G	2.37:g.216288219T>C	ENSP00000352696:p.Asn416Ser					FN1_ENST00000443816.1_Missense_Mutation_p.N416S|FN1_ENST00000432072.2_Missense_Mutation_p.N416S|FN1_ENST00000336916.4_Missense_Mutation_p.N416S|FN1_ENST00000426059.1_Missense_Mutation_p.N416S|FN1_ENST00000346544.3_Missense_Mutation_p.N416S|FN1_ENST00000421182.1_Missense_Mutation_p.N416S|FN1_ENST00000359671.1_Missense_Mutation_p.N416S|FN1_ENST00000357867.4_Missense_Mutation_p.N416S|FN1_ENST00000357009.2_Missense_Mutation_p.N416S|FN1_ENST00000323926.6_Missense_Mutation_p.N416S|FN1_ENST00000345488.5_Missense_Mutation_p.N416S|FN1_ENST00000356005.4_Missense_Mutation_p.N416S|FN1_ENST00000446046.1_Missense_Mutation_p.N416S	p.N416S			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	9	1616	-		Renal(323;0.127)	416			Collagen-binding.|Fibronectin type-II 2.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.1247A>G		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	T	28.9	4.964117	0.92791	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.49432	0.78;2.15;2.32;0.86;2.38;2.02;2.37;2.02;2.31;2.06;1.55;0.86;1.45;1.47	6.06	6.06	0.98353	.	0.074955	0.53938	D	0.000044	T	0.67979	0.2951	M	0.65975	2.015	0.80722	D	1	D;D;D;P;P;P;D;D;P;P;B	0.76494	0.997;0.98;0.994;0.917;0.917;0.865;0.999;0.981;0.917;0.917;0.006	D;D;D;B;B;B;D;P;B;B;B	0.79784	0.943;0.949;0.971;0.283;0.266;0.136;0.993;0.891;0.266;0.266;0.008	T	0.70368	-0.4891	10	0.72032	D	0.01	.	16.6093	0.84858	0.0:0.0:0.0:1.0	.	416;416;416;416;416;416;416;416;416;416;416	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	S	416	ENSP00000394423:N416S;ENSP00000323534:N416S;ENSP00000338200:N416S;ENSP00000350534:N416S;ENSP00000346839:N416S;ENSP00000352696:N416S;ENSP00000265312:N416S;ENSP00000273049:N416S;ENSP00000349509:N416S;ENSP00000410422:N416S;ENSP00000415018:N416S;ENSP00000399538:N416S;ENSP00000348285:N416S;ENSP00000398907:N416S	ENSP00000265313:N416S	N	-	2	0	FN1	215996464	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.967000	0.87967	2.324000	0.78689	0.533000	0.62120	AAT		0.448	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		36	46	0	0	0	1	0	36	46				
PAX9	5083	broad.mit.edu	37	14	37132535	37132535	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr14:37132535C>A	ENST00000361487.6	+	2	663	c.438C>A	c.(436-438)caC>caA	p.H146Q	PAX9_ENST00000402703.2_Missense_Mutation_p.H146Q|PAX9_ENST00000554201.1_5'UTR			P55771	PAX9_HUMAN	paired box 9	146					cellular response to growth factor stimulus (GO:0071363)|endoderm development (GO:0007492)|face morphogenesis (GO:0060325)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|regulation of odontogenesis (GO:0042481)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		ACAAGCAGCACCAGCCGACGC	0.632																																						ENST00000361487.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12						c.(436-438)caC>caA		paired box 9							64.0	55.0	58.0					14																	37132535		2203	4300	6503	SO:0001583	missense	5083				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr14:37132535C>A	AJ238381	CCDS9662.1	14q13.3	2007-07-12	2007-07-12		ENSG00000198807	ENSG00000198807		"""Paired boxes"""	8623	protein-coding gene	gene with protein product		167416	"""paired box gene 9"""			7981748	Standard	NM_006194		Approved		uc001wty.4	P55771	OTTHUMG00000140251	ENST00000361487.6:c.438C>A	14.37:g.37132535C>A	ENSP00000355245:p.His146Gln					PAX9_ENST00000402703.2_Missense_Mutation_p.H146Q|PAX9_ENST00000554201.1_5'UTR	p.H146Q			P55771	PAX9_HUMAN	Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)	2	663	+	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		146					Q99582|Q9UQR4	Missense_Mutation	SNP	ENST00000361487.6	37	c.438C>A	CCDS9662.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.255799	0.39896	.	.	ENSG00000198807	ENST00000402703;ENST00000361487	D;D	0.98777	-5.13;-5.13	5.25	2.96	0.34315	.	0.243429	0.49305	N	0.000149	D	0.96430	0.8835	M	0.67953	2.075	0.53688	D	0.999977	P	0.38335	0.627	B	0.32022	0.139	D	0.94492	0.7702	10	0.26408	T	0.33	.	10.0001	0.41924	0.1323:0.7424:0.0:0.1254	.	146	P55771	PAX9_HUMAN	Q	146	ENSP00000384817:H146Q;ENSP00000355245:H146Q	ENSP00000355245:H146Q	H	+	3	2	PAX9	36202286	0.966000	0.33281	1.000000	0.80357	0.970000	0.65996	0.306000	0.19279	1.122000	0.41944	0.561000	0.74099	CAC		0.632	PAX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276733.2			79	169	1	0	4.75426e-39	1	5.11443e-39	79	169				
GTF3C3	9330	broad.mit.edu	37	2	197657782	197657782	+	Silent	SNP	C	C	T			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr2:197657782C>T	ENST00000263956.3	-	3	398	c.309G>A	c.(307-309)gaG>gaA	p.E103E	GTF3C3_ENST00000409364.3_Silent_p.E103E|GTF3C3_ENST00000470386.1_5'Flank	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	103	Glu-rich.				5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.E103E(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						cctcctcctcctcttcttcct	0.468																																						ENST00000263956.3																			1	Substitution - coding silent(1)	p.E103E(1)	endometrium(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(307-309)gaG>gaA		general transcription factor IIIC, polypeptide 3, 102kDa							65.0	63.0	64.0					2																	197657782		2203	4300	6503	SO:0001819	synonymous_variant	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197657782C>T	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.309G>A	2.37:g.197657782C>T						GTF3C3_ENST00000409364.3_Silent_p.E103E	p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN			3	398	-			103			Glu-rich.		Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Silent	SNP	ENST00000263956.3	37	c.309G>A	CCDS2316.1																																																																																				0.468	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			4	248	0	0	0	1	0	4	248				
KRTAP9-9	81870	broad.mit.edu	37	17	39411940	39411940	+	Silent	SNP	C	C	T	rs368809647		TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr17:39411940C>T	ENST00000394008.1	+	1	305	c.303C>T	c.(301-303)ggC>ggT	p.G101G		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	86	14 X 5 AA repeats of C-C-[RQVGE]- [SPSTNQ]-[TASL].					keratin filament (GO:0045095)				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCAGCTGTGGCCAGAGCAGCT	0.617																																						ENST00000394008.1																			0				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(301-303)ggC>ggT		keratin associated protein 9-9							78.0	83.0	81.0					17																	39411940		2203	4297	6500	SO:0001819	synonymous_variant	81870					keratin filament		g.chr17:39411940C>T	AJ406951	CCDS54127.1	17q21.2	2010-06-03			ENSG00000198083	ENSG00000198083		"""Keratin associated proteins"""	16773	protein-coding gene	gene with protein product			"""keratin associated protein 9-5"""	KRTAP9-5		11279113	Standard	NM_030975		Approved	KAP9.9, KAP9.5	uc021txh.1	Q9BYP9	OTTHUMG00000133602	ENST00000394008.1:c.303C>T	17.37:g.39411940C>T							p.G101G	NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	305	+		Breast(137;0.000496)	101					B5MDD6|Q9BYQ1	Silent	SNP	ENST00000394008.1	37	c.303C>T	CCDS54127.1																																																																																				0.617	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257710.1	NM_030975		6	489	0	0	0	1	0	6	489				
DSC2	1824	broad.mit.edu	37	18	28650816	28650816	+	Splice_Site	SNP	C	C	T	rs145831682	byFrequency	TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr18:28650816C>T	ENST00000280904.6	-	14	2569	c.2126G>A	c.(2125-2127)tGc>tAc	p.C709Y	snoU13_ENST00000459603.1_RNA|DSC2_ENST00000251081.6_Splice_Site_p.C709Y	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	709					bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			AAACAGGATGCCTGGAGGAAG	0.343																																						ENST00000280904.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.e14-1		desmocollin 2		C	TYR/CYS,TYR/CYS	2,4404	4.2+/-10.8	0,2,2201	78.0	79.0	79.0		2126,2126	6.1	1.0	18	dbSNP_134	79	0,8600		0,0,4300	no	missense-near-splice,missense-near-splice	DSC2	NM_004949.3,NM_024422.3	194,194	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging	709/848,709/902	28650816	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28650816C>T	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.2126-1G>A	18.37:g.28650816C>T						DSC2_ENST00000251081.6_Splice_Site_p.C709_splice	p.C709_splice	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		14	2569	-			709						Splice_Site	SNP	ENST00000280904.6	37	c.2125_splice	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.166845	0.57476	4.54E-4	0.0	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000438199;ENST00000399347	T;T	0.59083	0.33;0.29	6.08	6.08	0.98989	.	0.241759	0.21756	N	0.069589	T	0.77157	0.4089	M	0.83223	2.63	0.58432	D	0.999997	D;D	0.89917	0.975;1.0	P;D	0.72625	0.903;0.978	T	0.79009	-0.1978	10	0.72032	D	0.01	.	13.8168	0.63297	0.0:0.9305:0.0:0.0695	.	709;709	Q02487;Q02487-2	DSC2_HUMAN;.	Y	709;709;475;722	ENSP00000251081:C709Y;ENSP00000280904:C709Y	ENSP00000251081:C709Y	C	-	2	0	DSC2	26904814	1.000000	0.71417	0.981000	0.43875	0.429000	0.31625	3.668000	0.54554	2.894000	0.99253	0.591000	0.81541	TGC		0.343	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949	Missense_Mutation	5	291	0	0	0	1	0	5	291				
URB2	9816	broad.mit.edu	37	1	229790000	229790000	+	Silent	SNP	C	C	T			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr1:229790000C>T	ENST00000258243.2	+	9	4378	c.4242C>T	c.(4240-4242)agC>agT	p.S1414S		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1414						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CTGTAGGAAGCATAGATGACC	0.423																																						ENST00000258243.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(4240-4242)agC>agT		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							177.0	156.0	163.0					1																	229790000		2203	4300	6503	SO:0001819	synonymous_variant	9816					nucleolus		g.chr1:229790000C>T	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.4242C>T	1.37:g.229790000C>T							p.S1414S	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN			9	4378	+			1414					Q5VYC9	Silent	SNP	ENST00000258243.2	37	c.4242C>T	CCDS31052.1																																																																																				0.423	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		5	278	0	0	0	1	0	5	278				
DNAH3	55567	broad.mit.edu	37	16	20976647	20976647	+	Silent	SNP	T	T	A			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr16:20976647T>A	ENST00000261383.3	-	53	8558	c.8559A>T	c.(8557-8559)ccA>ccT	p.P2853P	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2853	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCATGGTCAGTGGGGGGATGT	0.458																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(8557-8559)ccA>ccT		dynein, axonemal, heavy chain 3							86.0	87.0	87.0					16																	20976647		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20976647T>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.8559A>T	16.37:g.20976647T>A						DNAH3_ENST00000415178.1_3'UTR	p.P2853P	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	8558	-			2853			Stalk (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.8559A>T	CCDS10594.1																																																																																				0.458	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		13	607	0	0	0	1	0	13	607				
WDR5	11091	broad.mit.edu	37	9	137017152	137017152	+	Splice_Site	SNP	G	G	A	rs112881246		TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr9:137017152G>A	ENST00000358625.3	+	9	802		c.e9+1		WDR5_ENST00000425041.1_Splice_Site	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN	WD repeat domain 5						chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|histone H3-K4 methylation (GO:0051568)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|positive regulation of gluconeogenesis (GO:0045722)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|histone acetyltransferase complex (GO:0000123)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		ACGCTCATCGGTGAGTGTGGC	0.592																																						ENST00000358625.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9						c.e9+1		WD repeat domain 5							138.0	138.0	138.0					9																	137017152		2203	4300	6503	SO:0001630	splice_region_variant	11091				histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding	g.chr9:137017152G>A	AJ011376	CCDS6981.1	9q34	2014-09-03			ENSG00000196363	ENSG00000196363		"""WD repeat domain containing"""	12757	protein-coding gene	gene with protein product	"""SWD3, Set1c WD40 repeat protein, homolog (S. cerevisiae)"", ""cilia and flagella associated protein 89"""	609012				11551928	Standard	XM_005272163		Approved	SWD3, CFAP89	uc004cey.3	P61964	OTTHUMG00000131707	ENST00000358625.3:c.631+1G>A	9.37:g.137017152G>A						WDR5_ENST00000425041.1_Splice_Site		NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)	9	802	+		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)						Q91VA5|Q9NWX7|Q9UGP9	Splice_Site	SNP	ENST00000358625.3	37		CCDS6981.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119807	0.77323	.	.	ENSG00000196363	ENST00000358625;ENST00000425041	.	.	.	3.75	3.75	0.43078	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4966	0.67691	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR5	136006973	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.727000	0.91480	1.811000	0.52892	0.462000	0.41574	.		0.592	WDR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254621.1	NM_052821	Intron	209	498	0	0	0	1	0	209	498				
EMG1	10436	broad.mit.edu	37	12	7080041	7080041	+	5'UTR	SNP	T	T	A			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr12:7080041T>A	ENST00000261406.6	+	0	98				PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000535923.1_5'Flank|PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000546111.1_5'Flank|PHB2_ENST00000542912.1_5'Flank|PHB2_ENST00000544134.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		GAAGCCGCGCTGTTCTTATTT	0.547																																						ENST00000261406.6																			0																				20.0	19.0	19.0					12																	7080041		1879	4111	5990	SO:0001623	5_prime_UTR_variant	0							g.chr12:7080041T>A	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"""EMG1 nucleolar protein homolog (S. cerevisiae)"""			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.-46T>A	12.37:g.7080041T>A														0	98	+									RNA	SNP	ENST00000261406.6	37																																																																																						0.547	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331		14	42	0	0	0	1	0	14	42				
PCF11	51585	broad.mit.edu	37	11	82882859	82882859	+	Splice_Site	SNP	G	G	T			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr11:82882859G>T	ENST00000298281.4	+	9	4112		c.e9-1			NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TTTTCTTAAAGGTTCTGAGTG	0.338																																						ENST00000298281.4																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						c.e9-1		PCF11 cleavage and polyadenylation factor subunit							124.0	119.0	120.0					11																	82882859		1827	4088	5915	SO:0001630	splice_region_variant	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82882859G>T	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.3661-1G>T	11.37:g.82882859G>T								NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN			9	4112	+								A6H8W7|O43671|Q6P0X8	Splice_Site	SNP	ENST00000298281.4	37		CCDS44689.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639344	0.67244	.	.	ENSG00000165494	ENST00000298281;ENST00000530906	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3099	0.74023	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PCF11	82560507	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.663000	0.68038	2.756000	0.94617	0.655000	0.94253	.		0.338	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885	Intron	22	148	1	0	1.22574e-08	1	1.28929e-08	22	148				
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr20:46279860G>A	ENST00000371998.3	+	20	3977	c.3786G>A	c.(3784-3786)caG>caA	p.Q1262Q	NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000372004.3_Silent_p.Q1258Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1262	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q1262Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.567																																						ENST00000372004.3																			1	Substitution - coding silent(1)	p.Q1262Q(1)	endometrium(1)	breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3772-3774)caG>caA		nuclear receptor coactivator 3		G	,,,	10,4396	11.4+/-27.6	1,8,2194	53.0	58.0	56.0		3783,3759,3774,3786	-0.1	0.1	20	dbSNP_134	56	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NCOA3	NM_001174087.1,NM_001174088.1,NM_006534.3,NM_181659.2	,,,	1,20,6482	AA,AG,GG		0.1395,0.227,0.1692	,,,	1261/1424,1253/1416,1258/1421,1262/1425	46279860	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279860G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3786G>A	20.37:g.46279860G>A						NCOA3_ENST00000371998.3_Silent_p.Q1262Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q	p.Q1258Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			20	3990	+			1262			Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.3774G>A	CCDS13407.1																																																																																				0.567	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		7	254	0	0	0	1	0	7	254				
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	byFrequency	TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527													.|||	3140	0.626997	0.9395	0.5	5008	,	,		11330	0.7847		0.4702	False		,,,				2504	0.2935					ENST00000567960.1																			3	Substitution - Missense(3)	p.I221T(3)	kidney(2)|prostate(1)																																																0							g.chr16:90161926T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161926T>C						TUBB8P7_ENST00000564451.1_RNA								0	662	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.527	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		7	96	0	0	0	1	0	7	96				
TROAP	10024	broad.mit.edu	37	12	49724313	49724313	+	Missense_Mutation	SNP	G	G	T	rs199744032		TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr12:49724313G>T	ENST00000257909.3	+	13	1761	c.1685G>T	c.(1684-1686)aGt>aTt	p.S562I	TROAP_ENST00000551245.1_Missense_Mutation_p.S562I|TROAP_ENST00000547923.1_Missense_Mutation_p.S270I	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	562	4 X 33 AA approximate tandem repeats.|Cys-rich.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)		p.S562I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TGCTGTAGGAGTGAGCCTGAG	0.592																																						ENST00000551245.1																			1	Substitution - Missense(1)	p.S562I(1)	lung(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						c.(1684-1686)aGt>aTt		trophinin associated protein		G	ILE/SER	1,4405		0,1,2202	69.0	67.0	68.0		1685	-1.1	0.0	12		68	0,8600		0,0,4300	no	missense	TROAP	NM_005480.3	142	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	benign	562/779	49724313	1,13005	2203	4300	6503	SO:0001583	missense	10024				cell adhesion	cytoplasm		g.chr12:49724313G>T	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.1685G>T	12.37:g.49724313G>T	ENSP00000257909:p.Ser562Ile					TROAP_ENST00000547923.1_Missense_Mutation_p.S270I|TROAP_ENST00000257909.3_Missense_Mutation_p.S562I	p.S562I			Q12815	TROAP_HUMAN			13	1796	+			562			4 X 33 AA approximate tandem repeats.|Cys-rich.		F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	ENST00000257909.3	37	c.1685G>T	CCDS8784.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.880628	0.33255	2.27E-4	0.0	ENSG00000135451	ENST00000551245;ENST00000257909;ENST00000547923	.	.	.	3.47	-1.09	0.09904	.	.	.	.	.	T	0.15652	0.0377	N	0.22421	0.69	0.09310	N	1	B;B;P	0.35982	0.001;0.001;0.531	B;B;B	0.34779	0.002;0.002;0.189	T	0.14671	-1.0464	8	0.51188	T	0.08	.	1.3245	0.02123	0.2218:0.1838:0.4332:0.1612	.	562;270;562	F8W130;F8W1U0;Q12815	.;.;TROAP_HUMAN	I	562;562;270	.	ENSP00000257909:S562I	S	+	2	0	TROAP	48010580	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.031000	0.13710	-0.625000	0.05604	0.313000	0.20887	AGT		0.592	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		7	482	1	0	2.0095e-06	1	2.08284e-06	7	482				
AHNAK	79026	broad.mit.edu	37	11	62295897	62295897	+	Silent	SNP	G	G	A	rs574331119		TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr11:62295897G>A	ENST00000378024.4	-	5	6266	c.5992C>T	c.(5992-5994)Ctg>Ttg	p.L1998L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1998					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.L1998L(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGGCCTTTCAGGTGTAAGTCC	0.483													G|||	1	0.000199681	0.0008	0.0	5008	,	,		23967	0.0		0.0	False		,,,				2504	0.0					ENST00000378024.4																			1	Substitution - coding silent(1)	p.L1998L(1)	endometrium(1)	NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(5992-5994)Ctg>Ttg		AHNAK nucleoprotein							333.0	337.0	336.0					11																	62295897		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62295897G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.5992C>T	11.37:g.62295897G>A						AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.L1998L	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	6266	-		Melanoma(852;0.155)	1998					A1A586	Silent	SNP	ENST00000378024.4	37	c.5992C>T	CCDS31584.1																																																																																				0.483	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		7	1202	0	0	0	1	0	7	1202				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			0							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			6	80	0	0	0	1	0	6	80				
BMS1	9790	broad.mit.edu	37	10	43316118	43316118	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr10:43316118T>C	ENST00000374518.5	+	17	2995	c.2932T>C	c.(2932-2934)Tgc>Cgc	p.C978R		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	978					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.C978R(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GCACATGCATTGCGGAGCAGC	0.423																																						ENST00000374518.4																			1	Substitution - Missense(1)	p.C978R(1)	kidney(1)	NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2932-2934)Tgc>Cgc		BMS1 ribosome biogenesis factor							44.0	47.0	46.0					10																	43316118		2171	4293	6464	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43316118T>C	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.2932T>C	10.37:g.43316118T>C	ENSP00000363642:p.Cys978Arg						p.C978R	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			17	2995	+			978					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.2932T>C	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	T	19.29	3.799775	0.70567	.	.	ENSG00000165733	ENST00000374518	T	0.18502	2.21	4.97	4.97	0.65823	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.52661	0.1748	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66870	-0.5814	10	0.87932	D	0	.	14.9915	0.71393	0.0:0.0:0.0:1.0	.	978	Q14692	BMS1_HUMAN	R	978	ENSP00000363642:C978R	ENSP00000363642:C978R	C	+	1	0	BMS1	42636124	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.602000	0.82796	1.999000	0.58509	0.373000	0.22412	TGC		0.423	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		4	238	0	0	0	1	0	4	238				
ZNF688	146542	broad.mit.edu	37	16	30581293	30581293	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr16:30581293G>A	ENST00000223459.6	-	3	1879	c.775C>T	c.(775-777)Cgg>Tgg	p.R259W	ZNF688_ENST00000395219.1_Missense_Mutation_p.R245W|AC002310.7_ENST00000486926.1_RNA|AC002310.7_ENST00000492040.1_RNA	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	259					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						GGCGGGTCCCGGTCACCTCGG	0.706																																						ENST00000223459.6																			0				endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						c.(775-777)Cgg>Tgg		zinc finger protein 688							19.0	22.0	21.0					16																	30581293		2102	4139	6241	SO:0001583	missense	146542				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30581293G>A	AK122680	CCDS10684.1	16p11.2	2013-01-08			ENSG00000229809	ENSG00000229809		"""Zinc fingers, C2H2-type"", ""-"""	30489	protein-coding gene	gene with protein product						10493829	Standard	XM_005255139		Approved		uc002dys.2	P0C7X2	OTTHUMG00000132408	ENST00000223459.6:c.775C>T	16.37:g.30581293G>A	ENSP00000223459:p.Arg259Trp					ZNF688_ENST00000395219.1_Missense_Mutation_p.R245W	p.R259W	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN			3	1879	-			259					A8MV39|B3KV51|O75701|Q8IW91|Q8WV14|Q96MN0	Missense_Mutation	SNP	ENST00000223459.6	37	c.775C>T	CCDS10684.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664849	0.47572	.	.	ENSG00000229809	ENST00000395219;ENST00000223459	T;T	0.04234	3.67;3.91	4.42	2.42	0.29668	.	.	.	.	.	T	0.02533	0.0077	N	0.08118	0	0.33232	D	0.556007	B;B	0.25486	0.072;0.127	B;B	0.18263	0.014;0.021	T	0.26849	-1.0091	9	0.72032	D	0.01	.	5.3168	0.15860	0.1051:0.0:0.6939:0.2009	.	259;245	P0C7X2;A8MV39	ZN688_HUMAN;.	W	245;259	ENSP00000378645:R245W;ENSP00000223459:R259W	ENSP00000223459:R259W	R	-	1	2	ZNF688	30488794	0.999000	0.42202	0.994000	0.49952	0.828000	0.46876	1.110000	0.31147	0.582000	0.29556	-0.518000	0.04402	CGG		0.706	ZNF688-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255544.2	NM_145271		4	158	0	0	0	1	0	4	158				
SRFBP1	153443	broad.mit.edu	37	5	121356407	121356407	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr5:121356407C>A	ENST00000339397.4	+	6	1049	c.977C>A	c.(976-978)aCa>aAa	p.T326K	SRFBP1_ENST00000504881.1_3'UTR	NM_152546.2	NP_689759.2			serum response factor binding protein 1											central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		CATGGGGATACAAGAAATGAC	0.348																																						ENST00000339397.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15						c.(976-978)aCa>aAa		serum response factor binding protein 1							64.0	59.0	60.0					5																	121356407		1833	4089	5922	SO:0001583	missense	153443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm		g.chr5:121356407C>A	AK058015	CCDS43354.1	5q23.1	2006-12-21				ENSG00000151304			26333	protein-coding gene	gene with protein product	"""BUD22 homolog (S. cerevisiae)"""	610479				15492011	Standard	NM_152546		Approved	FLJ25286, p49, STRAP, BUD22, Rlb1	uc003kst.1	Q8NEF9		ENST00000339397.4:c.977C>A	5.37:g.121356407C>A	ENSP00000341324:p.Thr326Lys					SRFBP1_ENST00000504881.1_3'UTR	p.T326K	NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)	6	1049	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	326						Missense_Mutation	SNP	ENST00000339397.4	37	c.977C>A	CCDS43354.1	.	.	.	.	.	.	.	.	.	.	C	8.741	0.919086	0.17982	.	.	ENSG00000151304	ENST00000339397	.	.	.	5.33	-6.38	0.01957	.	1.777880	0.02334	N	0.074255	T	0.27832	0.0685	N	0.22421	0.69	0.09310	N	1	B	0.21071	0.051	B	0.14023	0.01	T	0.32798	-0.9893	9	0.51188	T	0.08	2.5989	9.3711	0.38254	0.0:0.3854:0.4605:0.154	.	326	Q8NEF9	SRFB1_HUMAN	K	326	.	ENSP00000341324:T326K	T	+	2	0	SRFBP1	121384306	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-0.075000	0.11431	-0.852000	0.04141	-0.471000	0.05019	ACA		0.348	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371200.1	NM_152546		121	116	1	0	3.41453e-61	1	3.75863e-61	121	116				
AFAP1L2	84632	broad.mit.edu	37	10	116062116	116062116	+	Missense_Mutation	SNP	G	G	A	rs368717763		TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr10:116062116G>A	ENST00000304129.4	-	12	1441	c.1412C>T	c.(1411-1413)gCg>gTg	p.A471V	AFAP1L2_ENST00000545353.1_Missense_Mutation_p.A524V|AFAP1L2_ENST00000369271.3_Missense_Mutation_p.A471V|AFAP1L2_ENST00000491814.1_5'Flank			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	471					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GTTTTTGGCCGCACTCACAAT	0.542																																						ENST00000369271.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21						c.(1411-1413)gCg>gTg		actin filament associated protein 1-like 2		G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	153.0	169.0	163.0		1412,1412	5.7	0.4	10		163	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	AFAP1L2	NM_001001936.1,NM_032550.2	64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	471/819,471/815	116062116	1,13005	2203	4300	6503	SO:0001583	missense	84632				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding	g.chr10:116062116G>A	BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"""Pleckstrin homology (PH) domain containing"""	25901	protein-coding gene	gene with protein product		612420	"""KIAA1914"""	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.1412C>T	10.37:g.116062116G>A	ENSP00000303042:p.Ala471Val					AFAP1L2_ENST00000545353.1_Missense_Mutation_p.A524V|AFAP1L2_ENST00000304129.4_Missense_Mutation_p.A471V	p.A471V	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN		Epithelial(162;0.0219)|all cancers(201;0.0561)	12	1712	-		Colorectal(252;0.175)|Breast(234;0.231)	471					A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Missense_Mutation	SNP	ENST00000304129.4	37	c.1412C>T	CCDS31286.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612527	0.87258	0.0	1.16E-4	ENSG00000169129	ENST00000369271;ENST00000304129;ENST00000392974;ENST00000545353	T;T;T	0.33865	1.39;1.39;1.39	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.63307	0.2500	M	0.76002	2.32	0.58432	D	0.999993	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.986;0.998;0.996;0.999;0.998	T	0.63386	-0.6649	10	0.54805	T	0.06	-28.8947	19.773	0.96379	0.0:0.0:1.0:0.0	.	524;37;525;499;471;471	F5GZE1;B7Z363;B7Z2Q0;Q8N4X5-4;Q8N4X5-2;Q8N4X5	.;.;.;.;.;AF1L2_HUMAN	V	471;471;498;524	ENSP00000358276:A471V;ENSP00000303042:A471V;ENSP00000444511:A524V	ENSP00000303042:A471V	A	-	2	0	AFAP1L2	116052106	1.000000	0.71417	0.367000	0.25926	0.988000	0.76386	7.599000	0.82757	2.677000	0.91161	0.655000	0.94253	GCG		0.542	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	NM_032550		5	557	0	0	0	1	0	5	557				
RGPD3	653489	broad.mit.edu	37	2	107049640	107049640	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr2:107049640C>A	ENST00000409886.3	-	16	2394	c.2307G>T	c.(2305-2307)ttG>ttT	p.L769F	RGPD3_ENST00000304514.7_Missense_Mutation_p.L769F	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	769					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CCGCATTTCGCAAAGAACCAT	0.393																																						ENST00000409886.3																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2305-2307)ttG>ttT		RANBP2-like and GRIP domain containing 3							118.0	95.0	102.0					2																	107049640		692	1590	2282	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049640C>A		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2307G>T	2.37:g.107049640C>A	ENSP00000386588:p.Leu769Phe					RGPD3_ENST00000304514.7_Missense_Mutation_p.L769F	p.L769F	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2394	-			769					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2307G>T	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.413561	0.00191	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23147	1.92;1.92	2.34	-1.52	0.08637	.	.	.	.	.	T	0.06917	0.0176	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36890	-0.9729	9	0.15952	T	0.53	-0.1475	2.2087	0.03942	0.1869:0.4924:0.185:0.1358	.	769	A6NKT7	RGPD3_HUMAN	F	769;527;769	ENSP00000386588:L769F;ENSP00000303659:L769F	ENSP00000303659:L769F	L	-	3	2	RGPD3	106416072	0.000000	0.05858	0.800000	0.32199	0.022000	0.10575	-0.972000	0.03802	-0.085000	0.12573	0.173000	0.16961	TTG		0.393	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		282	853	1	0	4.36536e-96	1	4.88095e-96	282	853				
GTF3C4	9329	broad.mit.edu	37	9	135554771	135554771	+	Nonsense_Mutation	SNP	C	C	T			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr9:135554771C>T	ENST00000372146.4	+	2	2329	c.1765C>T	c.(1765-1767)Cag>Tag	p.Q589*		NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	589					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		TCAGTCAATGCAGAAAACCCC	0.418																																					Pancreas(142;417 1875 11086 31973 47667)	ENST00000372146.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20						c.(1765-1767)Cag>Tag		general transcription factor IIIC, polypeptide 4, 90kDa							142.0	162.0	156.0					9																	135554771		2203	4300	6503	SO:0001587	stop_gained	9329				transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding	g.chr9:135554771C>T	AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""General transcription factors"""	4667	protein-coding gene	gene with protein product		604892	"""general transcription factor IIIC, polypeptide 4 (90kD)"""			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.1765C>T	9.37:g.135554771C>T	ENSP00000361219:p.Gln589*						p.Q589*	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)	2	2329	+			589					Q5VZJ7	Nonsense_Mutation	SNP	ENST00000372146.4	37	c.1765C>T	CCDS6953.1	.	.	.	.	.	.	.	.	.	.	C	44	10.580197	0.99431	.	.	ENSG00000125484	ENST00000372146	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-27.6979	18.8744	0.92328	0.0:1.0:0.0:0.0	.	.	.	.	X	589	.	ENSP00000361219:Q589X	Q	+	1	0	GTF3C4	134544592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.298000	0.78815	2.813000	0.96785	0.655000	0.94253	CAG		0.418	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1			197	600	0	0	0	1	0	197	600				
BPIFB2	80341	broad.mit.edu	37	20	31601685	31601685	+	Silent	SNP	C	C	T			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr20:31601685C>T	ENST00000170150.3	+	5	573	c.378C>T	c.(376-378)tcC>tcT	p.S126S		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	126						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										CCCAGAGCTCCATCAGGACCC	0.637																																						ENST00000170150.3																			0											c.(376-378)tcC>tcT		BPI fold containing family B, member 2							53.0	50.0	51.0					20																	31601685		2203	4300	6503	SO:0001819	synonymous_variant	80341					extracellular region	lipid binding	g.chr20:31601685C>T	AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"""BPI fold containing"""	16177	protein-coding gene	gene with protein product		614108	"""bactericidal/permeability-increasing protein-like 1"""	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.378C>T	20.37:g.31601685C>T							p.S126S	NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN			5	573	+			126					Q6UWN3|Q6ZME0|Q8NFQ7	Silent	SNP	ENST00000170150.3	37	c.378C>T	CCDS13210.1																																																																																				0.637	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227		88	276	0	0	0	1	0	88	276				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		8	259	0	0	0	1	0	8	259				
BMS1P20	96610	broad.mit.edu	37	22	22661362	22661362	+	RNA	SNP	C	C	T			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr22:22661362C>T	ENST00000426066.1	+	0	360					NR_027293.1				BMS1 pseudogene 20																		TGGGCAACAGCGAGGGAAATG	0.502																																						ENST00000426066.1																			0																																																			0							g.chr22:22661362C>T			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661362C>T								NR_027293.1						0	360	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.502	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			6	242	0	0	0	1	0	6	242				
PGGT1B	5229	broad.mit.edu	37	5	114548273	114548273	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr5:114548273C>G	ENST00000419445.1	-	9	980	c.960G>C	c.(958-960)ttG>ttC	p.L320F	PGGT1B_ENST00000379615.3_Missense_Mutation_p.L243F	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN	protein geranylgeranyltransferase type I, beta subunit	320					negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|protein geranylgeranylation (GO:0018344)|response to cytokine (GO:0034097)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)	CAAX-protein geranylgeranyltransferase activity (GO:0004662)|protein geranylgeranyltransferase activity (GO:0004661)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)		AGTATGCATGCAAAGCATCTG	0.403																																						ENST00000419445.1																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6						c.(958-960)ttG>ttC		protein geranylgeranyltransferase type I, beta subunit	Pravastatin(DB00175)						95.0	86.0	89.0					5																	114548273		2202	4300	6502	SO:0001583	missense	5229				protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity	g.chr5:114548273C>G		CCDS4116.1	5q23.1	2008-02-05			ENSG00000164219	ENSG00000164219			8895	protein-coding gene	gene with protein product		602031				8106351	Standard	NM_005023		Approved	GGTI, BGGI	uc003kqw.4	P53609	OTTHUMG00000128893	ENST00000419445.1:c.960G>C	5.37:g.114548273C>G	ENSP00000404676:p.Leu320Phe					PGGT1B_ENST00000379615.3_Missense_Mutation_p.L243F	p.L320F	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	9	980	-		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	320					Q5MJP9	Missense_Mutation	SNP	ENST00000419445.1	37	c.960G>C	CCDS4116.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.249724	0.39797	.	.	ENSG00000164219	ENST00000419445;ENST00000379615	T;T	0.47177	0.85;0.85	5.53	3.71	0.42584	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.000000	0.85682	D	0.000000	T	0.32133	0.0819	N	0.01202	-0.96	0.34745	D	0.731156	D;P	0.89917	1.0;0.891	D;P	0.74348	0.983;0.671	T	0.40572	-0.9556	10	0.18276	T	0.48	-13.6311	6.4226	0.21752	0.1277:0.6509:0.0:0.2214	.	243;320	P53609-2;P53609	.;PGTB1_HUMAN	F	320;243	ENSP00000404676:L320F;ENSP00000368935:L243F	ENSP00000368935:L243F	L	-	3	2	PGGT1B	114576172	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	0.496000	0.22499	0.664000	0.31047	0.585000	0.79938	TTG		0.403	PGGT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250855.2	NM_005023		76	286	0	0	0	1	0	76	286				
AMH	268	broad.mit.edu	37	19	2250861	2250861	+	Missense_Mutation	SNP	T	T	G			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr19:2250861T>G	ENST00000221496.4	+	4	700	c.678T>G	c.(676-678)agT>agG	p.S226R	MIR4321_ENST00000592276.1_RNA	NM_000479.3	NP_000470	P03971	MIS_HUMAN	anti-Mullerian hormone	226					aging (GO:0007568)|cell-cell signaling (GO:0007267)|gonadal mesoderm development (GO:0007506)|Mullerian duct regression (GO:0001880)|positive regulation of gene expression (GO:0010628)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|preantral ovarian follicle growth (GO:0001546)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|urogenital system development (GO:0001655)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			lung(2)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGGCTGAGTACCGCCCGGC	0.756									Persistant Mullerian Duct Syndrome (type I and II)																													ENST00000221496.3																			0				lung(2)	2						c.(676-678)agT>agG		anti-Mullerian hormone							5.0	7.0	6.0					19																	2250861		2106	4149	6255	SO:0001583	missense	268	Persistant Mullerian Duct Syndrome (type I and II)	Familial Cancer Database	PMDS, Persistent Oviduct Syndrome	cell differentiation|cell-cell signaling|gonadal mesoderm development|Mullerian duct regression|positive regulation of gene expression|sex determination	extracellular space	growth factor activity|hormone activity	g.chr19:2250861T>G	K03474	CCDS12085.1	19p13.3	2014-01-30				ENSG00000104899		"""Endogenous ligands"""	464	protein-coding gene	gene with protein product		600957				3754790, 18784351	Standard	NM_000479		Approved	MIS	uc002lvh.2	P03971		ENST00000221496.4:c.678T>G	19.37:g.2250861T>G	ENSP00000221496:p.Ser226Arg						p.S226R	NM_000479.3	NP_000470.2	P03971	MIS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1344	+		Hepatocellular(1079;0.137)	226					O75246|Q6GTN3	Missense_Mutation	SNP	ENST00000221496.4	37	c.678T>G	CCDS12085.1	.	.	.	.	.	.	.	.	.	.	T	10.29	1.310298	0.23821	.	.	ENSG00000104899	ENST00000221496	D	0.84944	-1.92	4.49	2.31	0.28768	Anti-Mullerian hormone, N-terminal (1);	0.781535	0.11937	N	0.515156	D	0.82674	0.5088	M	0.66939	2.045	0.09310	N	1	B	0.25351	0.124	B	0.28385	0.089	T	0.74791	-0.3545	10	0.66056	D	0.02	-20.4521	7.7249	0.28755	0.0:0.7805:0.0:0.2195	.	226	P03971	MIS_HUMAN	R	226	ENSP00000221496:S226R	ENSP00000221496:S226R	S	+	3	2	AMH	2201861	0.042000	0.20092	0.696000	0.30242	0.046000	0.14306	0.969000	0.29370	0.806000	0.34183	0.454000	0.30748	AGT		0.756	AMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451276.3	NM_000479		4	43	0	0	0	1	0	4	43				
CBLC	23624	broad.mit.edu	37	19	45284309	45284309	+	Splice_Site	SNP	G	G	A			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr19:45284309G>A	ENST00000270279.3	+	2	563		c.e2+1		CBLC_ENST00000341505.4_Splice_Site	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase						cell surface receptor signaling pathway (GO:0007166)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of MAP kinase activity (GO:0043407)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|ligase activity (GO:0016874)|phosphotyrosine binding (GO:0001784)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				GCGGAGCCCGGTGAGTAAGCC	0.652			M		AML																																	ENST00000270279.3				Rec	yes		19	19q13.2	23624	M	Cas-Br-M (murine) ecotropic retroviral transforming sequence c			L			AML		0				breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.e2+1		Cbl proto-oncogene C, E3 ubiquitin protein ligase							45.0	46.0	46.0					19																	45284309		2203	4300	6503	SO:0001630	splice_region_variant	23624				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr19:45284309G>A	AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"""RING-type (C3HC4) zinc fingers"""	15961	protein-coding gene	gene with protein product		608453	"""Cas-Br-M (murine) ectropic retroviral transforming sequence c"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence c"""			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.500+1G>A	19.37:g.45284309G>A						CBLC_ENST00000341505.4_Splice_Site		NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN			2	563	+	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)						Q8N1E5|Q9Y5Z2|Q9Y5Z3	Splice_Site	SNP	ENST00000270279.3	37		CCDS12643.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.100841	0.37048	.	.	ENSG00000142273	ENST00000270279;ENST00000341505	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7238	0.77736	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CBLC	49976149	1.000000	0.71417	0.997000	0.53966	0.140000	0.21249	6.212000	0.72188	2.315000	0.78130	0.491000	0.48974	.		0.652	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319732.2	NM_012116	Intron	8	213	0	0	0	1	0	8	213				
ST6GALNAC4	27090	broad.mit.edu	37	9	130674853	130674853	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr9:130674853C>T	ENST00000335791.5	-	4	580	c.305G>A	c.(304-306)cGc>cAc	p.R102H	ST6GALNAC4_ENST00000343609.2_Missense_Mutation_p.R18H|ST6GALNAC4_ENST00000495983.1_5'UTR	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4	102					cellular protein metabolic process (GO:0044267)|glycolipid metabolic process (GO:0006664)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity (GO:0047290)|sialyltransferase activity (GO:0008373)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						CTGGTTCATGCGGAACACGCA	0.677																																						ENST00000335791.5																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						c.(304-306)cGc>cAc		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4							44.0	40.0	41.0					9																	130674853		2203	4299	6502	SO:0001583	missense	27090				glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity	g.chr9:130674853C>T	AB035172	CCDS6883.1	9q34	2013-03-01	2005-02-07	2005-02-07	ENSG00000136840	ENSG00000136840	2.4.99.7	"""Sialyltransferases"""	17846	protein-coding gene	gene with protein product		606378	"""sialyltransferase 7D ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)"""	SIAT7D		10207017, 11062056	Standard	XM_005251922		Approved	ST6GALNACIV, SIAT3C	uc004bss.3	Q9H4F1	OTTHUMG00000020724	ENST00000335791.5:c.305G>A	9.37:g.130674853C>T	ENSP00000336733:p.Arg102His					ST6GALNAC4_ENST00000495983.1_5'UTR|ST6GALNAC4_ENST00000343609.2_Missense_Mutation_p.R18H	p.R102H	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN			4	580	-			102					Q5T9D0|Q9NWU6|Q9UKU1|Q9ULB9|Q9Y3G3|Q9Y3G4	Missense_Mutation	SNP	ENST00000335791.5	37	c.305G>A	CCDS6883.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922318	0.92319	.	.	ENSG00000136840	ENST00000541933;ENST00000335791;ENST00000343609;ENST00000361444	T;T;T	0.68624	-0.34;-0.34;-0.34	5.58	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.85186	0.5639	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88303	0.2951	10	0.87932	D	0	-5.3386	12.9615	0.58462	0.0:0.9221:0.0:0.0779	.	102	Q9H4F1	SIA7D_HUMAN	H	18;102;18;18	ENSP00000336733:R102H;ENSP00000340382:R18H;ENSP00000355130:R18H	ENSP00000336733:R102H	R	-	2	0	ST6GALNAC4	129714674	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.973000	0.63763	2.632000	0.89209	0.462000	0.41574	CGC		0.677	ST6GALNAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054317.2	NM_175040		4	220	0	0	0	1	0	4	220				
TBC1D3	729873	broad.mit.edu	37	17	36352489	36352489	+	De_novo_Start_InFrame	SNP	A	A	C	rs4796259	byFrequency	TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr17:36352489A>C	ENST00000537432.1	-	0	359				RP11-1407O15.2_ENST00000312412.4_Missense_Mutation_p.F433C|RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.F278C			Q8IZP1	TBC3A_HUMAN	TBC1 domain family, member 3							plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TATAGCATCAAATATCTCATC	0.388																																						ENST00000537432.1																			0				breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5								TBC1 domain family, member 3																																						729873					intracellular	Rab GTPase activator activity	g.chr17:36352489A>C		CCDS45658.1	17q12	2014-09-16			ENSG00000274611	ENSG00000274419			19031	protein-coding gene	gene with protein product	"""prostate cancer gene 17"""	607741				12604796, 12359748, 16863688	Standard	NM_001123391		Approved	TBC1D3A, DKFZp434P2235, PRC17	uc002hoo.2	Q8IZP1	OTTHUMG00000188487		17.37:g.36352489A>C						RP11-1407O15.2_ENST00000312412.4_Missense_Mutation_p.F433C|RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.F278C				Q8IZP1	TBC3A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	0	359	-	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)						A6NGX2|A8K007|Q6DCB4|Q9H0B9|Q9UDD4	Translation_Start_Site	SNP	ENST00000537432.1	37		CCDS45658.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.11|16.11	3.028879|3.028879	0.54790|0.54790	.|.	.|.	ENSG00000174093|ENSG00000174093	ENST00000544906;ENST00000520237;ENST00000312412;ENST00000518004|ENST00000523089	T;T;T;T|T	0.09911|0.02812	2.93;2.93;2.93;2.93|4.15	2.62|2.62	2.62|2.62	0.31277|0.31277	.|.	.|.	.|.	.|.	.|.	T|T	0.06826|0.06826	0.0174|0.0174	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.33650|0.33650	-0.9860|-0.9860	6|6	0.87932|0.44086	D|T	0|0.13	.|.	10.5928|10.5928	0.45318|0.45318	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	rs4796259|rs4796259	.|.	.|.	.|.	C|M	278;433;433;429|388	ENSP00000444117:F278C;ENSP00000428261:F433C;ENSP00000308540:F433C;ENSP00000428330:F429C|ENSP00000427867:I388M	ENSP00000308540:F433C|ENSP00000427867:I388M	F|I	-|-	2|3	0|3	RP11-1407O15.2|RP11-1407O15.2	33606288|33606288	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.708000|0.708000	0.40852|0.40852	8.882000|8.882000	0.92420|0.92420	1.196000|1.196000	0.43129|0.43129	0.163000|0.163000	0.16589|0.16589	TTT|ATT		0.388	TBC1D3-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001123391		15	122	0	0	0	1	0	15	122				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	41								p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A41T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(121-123)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29625877G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.121G>A	20.37:g.29625877G>A	ENSP00000278882:p.Ala41Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T	p.A41T							5	501	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.121G>A		.	.	.	.	.	.	.	.	.	.	g	8.740	0.918766	0.17982	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62498	0.02	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.52099	D	0.999942	B	0.24186	0.099	B	0.27715	0.082	T	0.43956	-0.9359	9	0.33940	T	0.23	.	9.3557	0.38164	0.0:0.0:1.0:0.0	rs7266938;rs7266938	46	F5H5R5	.	T	41;46;41	ENSP00000408863:A46T	ENSP00000278882:A41T	A	+	1	0	FRG1B	28239538	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	5.232000	0.65332	1.250000	0.43966	0.184000	0.17185	GCC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		27	387	0	0	0	1	0	27	387				
ZNF721	170960	broad.mit.edu	37	4	436563	436563	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr4:436563T>C	ENST00000338977.5	-	2	1705	c.1657A>G	c.(1657-1659)Acc>Gcc	p.T553A	ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.T565A|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000507078.1_Intron			Q8TF20	ZN721_HUMAN	zinc finger protein 721	553					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TGTCTAAAGGTTTTGCCACAT	0.418																																						ENST00000338977.5																			0				endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						c.(1657-1659)Acc>Gcc		zinc finger protein 721							104.0	114.0	111.0					4																	436563		2137	4260	6397	SO:0001583	missense	170960							g.chr4:436563T>C	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.1657A>G	4.37:g.436563T>C	ENSP00000340524:p.Thr553Ala					ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.T565A|ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA	p.T553A							2	1705	-								Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37	c.1657A>G		.	.	.	.	.	.	.	.	.	.	T	0.544	-0.852463	0.02630	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.34667	1.35;1.35	1.28	-1.31	0.09230	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34483	0.0899	L	0.33245	0.995	0.09310	N	0.999997	D;B;B	0.57257	0.979;0.006;0.005	D;B;B	0.71414	0.973;0.012;0.007	T	0.25882	-1.0119	9	0.02654	T	1	.	4.9128	0.13831	0.0:0.4041:0.0:0.5959	.	553;565;565	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	A	553;565	ENSP00000340524:T553A;ENSP00000428878:T565A	ENSP00000340524:T553A	T	-	1	0	ZNF721	426563	0.000000	0.05858	0.255000	0.24374	0.635000	0.38103	-0.952000	0.03881	-0.293000	0.08986	0.155000	0.16302	ACC		0.418	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		6	905	0	0	0	1	0	6	905				
NR3C2	4306	broad.mit.edu	37	4	149075976	149075976	+	Silent	SNP	T	T	G	rs544520355	byFrequency	TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr4:149075976T>G	ENST00000358102.3	-	5	2453	c.2091A>C	c.(2089-2091)ccA>ccC	p.P697P	NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000355292.3_Silent_p.P701P|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000511528.1_Silent_p.P701P|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000344721.4_Silent_p.P697P	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	697	Hinge.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	ggggtgggggtgggggtgggg	0.527																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(2101-2103)ccA>ccC		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						14.0	17.0	16.0					4																	149075976		2200	4293	6493	SO:0001819	synonymous_variant	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149075976T>G	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2091A>C	4.37:g.149075976T>G						NR3C2_ENST00000358102.3_Silent_p.P697P|NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000344721.4_Silent_p.P697P|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000511528.1_Silent_p.P701P	p.P701P			P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	5	2465	-	all_hematologic(180;0.151)		697			Hinge.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Silent	SNP	ENST00000358102.3	37	c.2103A>C	CCDS3772.1																																																																																				0.527	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			9	97	0	0	0	1	0	9	97				
LRRIQ3	127255	broad.mit.edu	37	1	74575212	74575213	+	Frame_Shift_Ins	INS	-	-	T	rs375424853		TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr1:74575212_74575213insT	ENST00000395089.1	-	4	731_732	c.732_733insA	c.(730-735)aaacagfs	p.Q245fs	LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.Q137fs|LRRIQ3_ENST00000354431.4_Frame_Shift_Ins_p.Q245fs|LRRIQ3_ENST00000468759.1_5'UTR			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	245				QQEKII -> TAGKNY (in Ref. 1; BAD18621). {ECO:0000305}.						NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTTCCTGCTGTTTTTTTTTGT	0.327																																						ENST00000354431.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(730-735)aaagcafs		leucine-rich repeats and IQ motif containing 3																																				SO:0001589	frameshift_variant	127255							g.chr1:74575212_74575213insT	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.733dupA	1.37:g.74575221_74575221dupT	ENSP00000378524:p.Gln245fs					LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.A137fs|LRRIQ3_ENST00000395089.1_Frame_Shift_Ins_p.A245fs|LRRIQ3_ENST00000468759.1_5'UTR	p.A245fs	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN			5	923_924	-			245	QQEKII -> TAGKNY (in Ref. 1; BAD18621).				A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Frame_Shift_Ins	INS	ENST00000395089.1	37	c.732_733insA	CCDS41350.1																																																																																				0.327	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		17	298						17	298	---	---	---	---
BCL10	8915	broad.mit.edu	37	1	85736511	85736511	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr1:85736511delT	ENST00000370580.1	-	2	873	c.136delA	c.(136-138)atafs	p.I46fs		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	46	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				adaptive immune response (GO:0002250)|B cell apoptotic process (GO:0001783)|cell death (GO:0008219)|cellular defense response (GO:0006968)|cellular response to mechanical stimulus (GO:0071260)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interleukin-6 biosynthetic process (GO:0042226)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of mature B cell apoptotic process (GO:0002906)|neural tube closure (GO:0001843)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|regulation of T cell receptor signaling pathway (GO:0050856)|response to food (GO:0032094)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell apoptotic process (GO:0070231)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor signaling pathway (GO:0002224)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|NF-kappaB binding (GO:0051059)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.I46fs*4(1)		haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		CTACTGAGTATTTTTTTTGCA	0.343			T	IGH@	MALT																																NSCLC(34;993 1034 12176 32621 50182)	ENST00000370580.1				Dom	yes		1	1p22	8915	T	B-cell CLL/lymphoma 10			L	IGH@		MALT		1	Insertion - Frameshift(1)	p.I46fs*4(1)	ovary(1)	haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19						c.(136-138)tafs		B-cell CLL/lymphoma 10							83.0	90.0	87.0					1																	85736511		2203	4300	6503	SO:0001589	frameshift_variant	8915				apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr1:85736511delT	AJ006288	CCDS704.1	1p22	2008-07-18			ENSG00000142867	ENSG00000142867			989	protein-coding gene	gene with protein product	"""CARD-like apoptotic protein"", ""CARD-containing apoptotic signaling protein"", ""CARD containing molecule enhancing NF-kB"", ""caspase-recruiting domain-containing protein"", ""CARD-containing proapoptotic protein"""	603517				9989495	Standard	NM_003921		Approved	CARMEN, CIPER, mE10, c-E10, CLAP	uc021opd.1	O95999	OTTHUMG00000009965	ENST00000370580.1:c.136delA	1.37:g.85736511delT	ENSP00000359612:p.Ile46fs						p.I46fs	NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN		all cancers(265;0.0114)|Epithelial(280;0.0311)	2	873	-			46			CARD.		Q5VUF1	Frame_Shift_Del	DEL	ENST00000370580.1	37	c.136delA	CCDS704.1																																																																																				0.343	BCL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027612.1	NM_003921		7	274						7	274	---	---	---	---
ABCA4	24	broad.mit.edu	37	1	94466574	94466574	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr1:94466574delC	ENST00000370225.3	-	46	6456	c.6370delG	c.(6370-6372)gtcfs	p.V2124fs	ABCA4_ENST00000465352.1_5'Flank|ABCA4_ENST00000536513.1_Frame_Shift_Del_p.V394fs|ABCA4_ENST00000535881.1_Frame_Shift_Del_p.V243fs	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2124	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GATGTGAGGACCACAGCCCTC	0.617																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(6370-6372)tcfs		ATP-binding cassette, sub-family A (ABC1), member 4							117.0	106.0	109.0					1																	94466574		2203	4300	6503	SO:0001589	frameshift_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94466574delC	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.6370delG	1.37:g.94466574delC	ENSP00000359245:p.Val2124fs					ABCA4_ENST00000535881.1_Frame_Shift_Del_p.V243fs|ABCA4_ENST00000536513.1_Frame_Shift_Del_p.V394fs	p.V2124fs	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	46	6456	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	2124			ABC transporter 2.		O15112|O60438|O60915|Q0QD48|Q4LE31	Frame_Shift_Del	DEL	ENST00000370225.3	37	c.6370delG	CCDS747.1																																																																																				0.617	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		120	222						120	222	---	---	---	---
WDR3	10885	broad.mit.edu	37	1	118485115	118485115	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr1:118485115delC	ENST00000349139.5	+	10	1092	c.1045delC	c.(1045-1047)ctgfs	p.L349fs		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	349						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L349V(1)		breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TGAAATGAGTCTGCAAGATGA	0.333																																						ENST00000349139.4																			1	Substitution - Missense(1)	p.L349V(1)	breast(1)	breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(1045-1047)tgfs		WD repeat domain 3							97.0	100.0	99.0					1																	118485115		2203	4300	6503	SO:0001589	frameshift_variant	10885					nuclear membrane|nucleolus		g.chr1:118485115delC	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.1045delC	1.37:g.118485115delC	ENSP00000308179:p.Leu349fs						p.L349fs	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	10	1092	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)	349						Frame_Shift_Del	DEL	ENST00000349139.5	37	c.1045delC	CCDS898.1																																																																																				0.333	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784		195	288						195	288	---	---	---	---
RP11-782C8.2	0	broad.mit.edu	37	1	143210193	143210194	+	lincRNA	INS	-	-	T			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr1:143210193_143210194insT	ENST00000412204.2	-	0	876_877				RP11-782C8.1_ENST00000438000.1_lincRNA																							GGCAGCATTTGTTTTTTTAACA	0.317																																						ENST00000412204.2																			0																																																			0							g.chr1:143210193_143210194insT																													1.37:g.143210200_143210200dupT						RP11-782C8.1_ENST00000438000.1_lincRNA								0	876_877	-									RNA	INS	ENST00000412204.2	37																																																																																						0.317	RP11-782C8.2-004	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037567.2			8	241						8	241	---	---	---	---
AFTPH	54812	broad.mit.edu	37	2	64778672	64778674	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr2:64778672_64778674delGAT	ENST00000422803.1	+	2	378_380	c.64_66delGAT	c.(64-66)gatdel	p.D26del	AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del|AFTPH_ENST00000409183.1_5'Flank|AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del|AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del			Q6ULP2	AFTIN_HUMAN	aftiphilin	26					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TGGAGCAGAGGATGATGATGATG	0.409																																						ENST00000422803.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(64-66)del		aftiphilin																																				SO:0001651	inframe_deletion	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64778672_64778674delGAT	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.64_66delGAT	2.37:g.64778681_64778683delGAT	ENSP00000397726:p.Asp26del					AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del|AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del	p.D26del			Q6ULP2	AFTIN_HUMAN			2	378_380	+			26					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	In_Frame_Del	DEL	ENST00000422803.1	37	c.64_66delGAT																																																																																					0.409	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		8	576						8	576	---	---	---	---
AC067960.1	0	broad.mit.edu	37	2	121840249	121840249	+	lincRNA	DEL	G	G	-			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr2:121840249delG	ENST00000441053.1	-	0	206																											GGCTAGGGCTGGGGGGATGGT	0.602																																						ENST00000441053.1																			0																																																			0							g.chr2:121840249delG																													2.37:g.121840249delG														0	206	-									RNA	DEL	ENST00000441053.1	37																																																																																						0.602	AC067960.1-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000332296.1			4	7						4	7	---	---	---	---
DYNC1LI1	51143	broad.mit.edu	37	3	32571050	32571050	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr3:32571050delT	ENST00000273130.4	-	11	1391	c.1288delA	c.(1288-1290)attfs	p.I430fs	DYNC1LI1_ENST00000432458.2_Frame_Shift_Del_p.I314fs	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	430					microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						TTTGGATCAATTTTTTTTGAC	0.398																																						ENST00000273130.4																			0				kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						c.(1288-1290)ttfs		dynein, cytoplasmic 1, light intermediate chain 1							67.0	64.0	65.0					3																	32571050		2203	4300	6503	SO:0001589	frameshift_variant	51143				cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity	g.chr3:32571050delT	AF078849	CCDS2654.1	3p23	2013-01-18	2005-11-25	2005-11-25	ENSG00000144635	ENSG00000144635		"""Cytoplasmic dyneins"""	18745	protein-coding gene	gene with protein product		615890	"""dynein, cytoplasmic, light intermediate polypeptide 1"""	DNCLI1		16260502	Standard	NM_016141		Approved		uc003cfb.4	Q9Y6G9	OTTHUMG00000130750	ENST00000273130.4:c.1288delA	3.37:g.32571050delT	ENSP00000273130:p.Ile430fs					DYNC1LI1_ENST00000432458.2_Frame_Shift_Del_p.I314fs	p.I430fs	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN			11	1391	-			430					A2RRG7|Q53HC8|Q53HK7	Frame_Shift_Del	DEL	ENST00000273130.4	37	c.1288delA	CCDS2654.1																																																																																				0.398	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253250.1	NM_016141		7	233						7	233	---	---	---	---
HESX1	8820	broad.mit.edu	37	3	57232250	57232250	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr3:57232250delT	ENST00000295934.3	-	4	569	c.533delA	c.(532-534)aatfs	p.N178fs	HESX1_ENST00000473921.1_Frame_Shift_Del_p.N144fs	NM_003865.2	NP_003856.1	Q9UBX0	HESX1_HUMAN	HESX homeobox 1	178					brain development (GO:0007420)|forebrain morphogenesis (GO:0048853)|negative regulation of transcription, DNA-templated (GO:0045892)|nose development (GO:0043584)|otic vesicle formation (GO:0030916)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)		TGTGTTGAAATTTTTTTTCGC	0.308																																					Esophageal Squamous(84;267 1272 9034 48993 52677)	ENST00000295934.3																			0				large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(2)	7						c.(532-534)atfs		HESX homeobox 1							75.0	73.0	73.0					3																	57232250		2201	4297	6498	SO:0001589	frameshift_variant	8820					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:57232250delT	AF059734	CCDS2881.1	3p14.3	2014-06-16	2007-02-16		ENSG00000163666	ENSG00000163666		"""Homeoboxes / PRD class"""	4877	protein-coding gene	gene with protein product		601802	"""homeobox, ES cell expressed 1"""			9373136, 9620767, 7876132	Standard	NM_003865		Approved	RPX, ANF	uc003din.4	Q9UBX0	OTTHUMG00000158597	ENST00000295934.3:c.533delA	3.37:g.57232250delT	ENSP00000295934:p.Asn178fs					HESX1_ENST00000473921.1_Frame_Shift_Del_p.N144fs	p.N178fs	NM_003865.2	NP_003856.1	Q9UBX0	HESX1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)	4	569	-			178					Q52LC5|Q99667	Frame_Shift_Del	DEL	ENST00000295934.3	37	c.533delA	CCDS2881.1																																																																																				0.308	HESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351430.2			7	397						7	397	---	---	---	---
SLC9A9	285195	broad.mit.edu	37	3	143551065	143551066	+	Splice_Site	INS	-	-	A	rs373202846|rs537840717	byFrequency	TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr3:143551065_143551066insA	ENST00000316549.6	-	2	384		c.e2-2			NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9						ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TTATAAGGCCTAAAAAAAAAAG	0.347																																						ENST00000316549.6																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						c.e2-2		solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9																																				SO:0001630	splice_region_variant	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:143551065_143551066insA	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.176-2->T	3.37:g.143551075_143551075dupA								NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN			2	384	-								A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Splice_Site	INS	ENST00000316549.6	37		CCDS33872.1																																																																																				0.347	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653	Intron	8	120						8	120	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	151148114	151148116	+	In_Frame_Del	DEL	CAG	CAG	-	rs147600909		TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr3:151148114_151148116delCAG	ENST00000474524.1	+	42	6369_6371	c.6331_6333delCAG	c.(6331-6333)cagdel	p.Q2115del	MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2115	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.Q2111E(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCAGACCCAGCAGCAGCAGC	0.527																																						ENST00000474524.1																			1	Substitution - Missense(1)	p.Q2111E(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(6331-6333)del		mediator complex subunit 12-like																																				SO:0001651	inframe_deletion	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151148114_151148116delCAG	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.6331_6333delCAG	3.37:g.151148123_151148125delCAG	ENSP00000417235:p.Gln2115del					MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del	p.Q2115del	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		42	6369_6371	+			2115			Gln-rich.		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	In_Frame_Del	DEL	ENST00000474524.1	37	c.6331_6333delCAG	CCDS33876.1																																																																																				0.527	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		9	335						9	335	---	---	---	---
TMEM41A	90407	broad.mit.edu	37	3	185212517	185212518	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr3:185212517_185212518insA	ENST00000421852.1	-	4	562_563	c.467_468insT	c.(466-468)ttcfs	p.F156fs	TMEM41A_ENST00000296254.3_Intron|TMEM41A_ENST00000475480.1_5'UTR	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A	156						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAAACAATAAGAAAAAAAACAA	0.446																																						ENST00000421852.1																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(466-468)tttfs		transmembrane protein 41A				0,4266		0,0,2133						1.0	0.8			116	1,8253		0,1,4126	no	frameshift	TMEM41A	NM_080652.3		0,1,6259	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12519				SO:0001589	frameshift_variant	90407					integral to membrane		g.chr3:185212517_185212518insA	BC019884	CCDS3271.1	3q27.2	2006-04-12			ENSG00000163900	ENSG00000163900			30544	protein-coding gene	gene with protein product						12975309	Standard	NM_080652		Approved	MGC15397	uc003fpj.2	Q96HV5	OTTHUMG00000156660	ENST00000421852.1:c.468dupT	3.37:g.185212525_185212525dupA	ENSP00000406885:p.Phe156fs					TMEM41A_ENST00000296254.3_Intron|TMEM41A_ENST00000475480.1_5'UTR	p.F156fs	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		4	562_563	-	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		156					A8K4B3|D3DNU2|Q6ZMJ0	Frame_Shift_Ins	INS	ENST00000421852.1	37	c.467_468insT	CCDS3271.1																																																																																				0.446	TMEM41A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345174.1	NM_080652		7	483						7	483	---	---	---	---
UBA6-AS1	550112	broad.mit.edu	37	4	68632418	68632419	+	RNA	INS	-	-	AT	rs141790878|rs2627241		TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr4:68632418_68632419insAT	ENST00000500538.2	+	0	1905				UBA6-AS1_ENST00000502758.1_RNA					UBA6 antisense RNA 1 (head to head)																		cacacacacacaTATATATAct	0.431																																						ENST00000500538.2																			0																																																			0							g.chr4:68632418_68632419insAT			4q13.2	2014-01-15			ENSG00000248049	ENSG00000248049		"""Long non-coding RNAs"""	49083	non-coding RNA	RNA, long non-coding							Standard	NR_015439		Approved	LOC550112			OTTHUMG00000160769		4.37:g.68632425_68632426dupAT						RP11-453E17.1_ENST00000502758.1_RNA								0	1905	+									RNA	INS	ENST00000500538.2	37																																																																																						0.431	UBA6-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000362199.2			14	12						14	12	---	---	---	---
ADAD1	132612	broad.mit.edu	37	4	123302211	123302211	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr4:123302211delA	ENST00000296513.2	+	4	422	c.237delA	c.(235-237)ccafs	p.P79fs	ADAD1_ENST00000388724.2_Frame_Shift_Del_p.P79fs|ADAD1_ENST00000388725.2_Frame_Shift_Del_p.P61fs|ADAD1_ENST00000492454.1_3'UTR	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	79					multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCCTTCCTCCAAAAAAAATAC	0.358																																						ENST00000296513.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(235-237)ccfs		adenosine deaminase domain containing 1 (testis-specific)							63.0	70.0	68.0					4																	123302211		2202	4300	6502	SO:0001589	frameshift_variant	132612				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	g.chr4:123302211delA	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.237delA	4.37:g.123302211delA	ENSP00000296513:p.Pro79fs					ADAD1_ENST00000388724.2_Frame_Shift_Del_p.P79fs|ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388725.2_Frame_Shift_Del_p.P61fs	p.P79fs	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN			4	422	+			79					A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Frame_Shift_Del	DEL	ENST00000296513.2	37	c.237delA	CCDS34058.1																																																																																				0.358	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243		9	513						9	513	---	---	---	---
MMAA	166785	broad.mit.edu	37	4	146563617	146563619	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr4:146563617_146563619delCTT	ENST00000281317.5	+	3	1752_1754	c.542_544delCTT	c.(541-546)ccttct>cct	p.S183del	RP11-557J10.4_ENST00000504555.1_RNA|MMAA_ENST00000541599.1_5'UTR	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	183					cellular lipid metabolic process (GO:0044255)|cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)	p.P181H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCTGTGGACCCTTCTTCTTGTAC	0.429																																						ENST00000281317.5																			1	Substitution - Missense(1)	p.P181H(1)	lung(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17						c.(541-546)cct>c		methylmalonic aciduria (cobalamin deficiency) cblA type	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)																																			SO:0001651	inframe_deletion	166785					mitochondrion	GTP binding|nucleoside-triphosphatase activity	g.chr4:146563617_146563619delCTT	AF524841	CCDS3766.1	4q31.1	2011-05-12	2005-07-11			ENSG00000151611			18871	protein-coding gene	gene with protein product		607481	"""methylmalonic aciduria (cobalamin deficiency) type A"""			12438653	Standard	NM_172250		Approved	cblA	uc003ikh.4	Q8IVH4		ENST00000281317.5:c.542_544delCTT	4.37:g.146563623_146563625delCTT	ENSP00000281317:p.Ser183del					MMAA_ENST00000541599.1_5'UTR|RP11-557J10.4_ENST00000504555.1_RNA	p.PS181del	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN			3	1752_1754	+	all_hematologic(180;0.151)		181					B3KX40|Q495G7	In_Frame_Del	DEL	ENST00000281317.5	37	c.542_544delCTT	CCDS3766.1																																																																																				0.429	MMAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364668.2			280	1191						280	1191	---	---	---	---
FHDC1	85462	broad.mit.edu	37	4	153893619	153893619	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr4:153893619delA	ENST00000511601.1	+	11	1497	c.1309delA	c.(1309-1311)aaafs	p.K438fs	FHDC1_ENST00000260008.3_Frame_Shift_Del_p.K438fs			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	438	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.								ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CTGTGAAGACAAAAAAACCAT	0.403																																						ENST00000511601.1																		ARFIP1/FHDC1(2)	0				NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1309-1311)aafs		FH2 domain containing 1							98.0	101.0	100.0					4																	153893619		2203	4300	6503	SO:0001589	frameshift_variant	85462				actin cytoskeleton organization		actin binding	g.chr4:153893619delA	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.1309delA	4.37:g.153893619delA	ENSP00000427567:p.Lys438fs					FHDC1_ENST00000260008.3_Frame_Shift_Del_p.K438fs	p.K438fs			Q9C0D6	FHDC1_HUMAN			11	1497	+	all_hematologic(180;0.093)		438			FH2.			Frame_Shift_Del	DEL	ENST00000511601.1	37	c.1309delA	CCDS34081.1																																																																																				0.403	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		8	767						8	767	---	---	---	---
FRG1	2483	broad.mit.edu	37	4	190873437	190873439	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr4:190873437_190873439delAAG	ENST00000226798.4	+	3	476_478	c.254_256delAAG	c.(253-258)aaagaa>aaa	p.E86del	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	86					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GCTCCACACAAAGAAGGTTTGTG	0.414																																						ENST00000226798.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(253-258)aaa>a		FSHD region gene 1				24,4216		0,24,2096						3.5	1.0		dbSNP_134	78	47,8181		0,47,4067	no	coding	FRG1	NM_004477.2		0,71,6163	A1A1,A1R,RR		0.5712,0.566,0.5695				71,12397				SO:0001651	inframe_deletion	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190873437_190873439delAAG	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.254_256delAAG	4.37:g.190873440_190873442delAAG	ENSP00000226798:p.Glu86del					FRG1_ENST00000514482.1_3'UTR	p.KE85del	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	3	476_478	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	85					A8K775	In_Frame_Del	DEL	ENST00000226798.4	37	c.254_256delAAG	CCDS34121.1																																																																																				0.414	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		7	864						7	864	---	---	---	---
ZDHHC11	79844	broad.mit.edu	37	5	848671	848671	+	Frame_Shift_Del	DEL	G	G	-			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr5:848671delG	ENST00000283441.8	-	2	710	c.327delC	c.(325-327)cccfs	p.P109fs	ZDHHC11_ENST00000424784.2_Frame_Shift_Del_p.P109fs	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	109						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			AGAGGGGCATGGGCTGAGAAT	0.592																																						ENST00000283441.8																			0				haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21						c.(325-327)ccfs		zinc finger, DHHC-type containing 11				7,3719		2,3,1858	20.0	17.0	18.0			-5.5	0.0	5		18	26,6948		5,16,3466	no	frameshift	ZDHHC11	NM_024786.2		7,19,5324	A1A1,A1R,RR		0.3728,0.1879,0.3084			848671	33,10667	2163	4221	6384	SO:0001589	frameshift_variant	79844					integral to membrane	acyltransferase activity|zinc ion binding	g.chr5:848671delG	AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.327delC	5.37:g.848671delG	ENSP00000283441:p.Pro109fs					ZDHHC11_ENST00000424784.2_Frame_Shift_Del_p.P109fs	p.P109fs	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)		2	710	-			109					Q6UWR9	Frame_Shift_Del	DEL	ENST00000283441.8	37	c.327delC	CCDS3857.1																																																																																				0.592	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3	NM_024786		7	57						7	57	---	---	---	---
NPR3	4883	broad.mit.edu	37	5	32789822	32789823	+	3'UTR	DEL	GT	GT	-	rs370388563		TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr5:32789822_32789823delGT	ENST00000265074.8	+	0	5340_5341				AC026703.1_ENST00000326958.1_Frame_Shift_Del_p.C106fs	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	CTGATTTTGGGTGTGTGTGTGT	0.421																																						ENST00000326958.1																			0											c.(313-318)gggtfs																																						SO:0001624	3_prime_UTR_variant	0							g.chr5:32789822_32789823delGT		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.*3372GT>-	5.37:g.32789832_32789833delGT						NPR3_ENST00000265074.8_3'UTR	p.GC105fs							1	878_879	+								A2RRD1|B4DT84|E7EPG9	Frame_Shift_Del	DEL	ENST00000265074.8	37	c.315_316delGT	CCDS56357.1																																																																																				0.421	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		15	560						15	560	---	---	---	---
CARD6	84674	broad.mit.edu	37	5	40853093	40853094	+	Frame_Shift_Ins	INS	-	-	T			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr5:40853093_40853094insT	ENST00000254691.5	+	3	1858_1859	c.1659_1660insT	c.(1660-1662)tttfs	p.F554fs	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	554					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CTTCAGCTGTGTTTTTTTTCAC	0.416																																						ENST00000254691.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(1657-1662)gtttttfs		caspase recruitment domain family, member 6				6,4260		0,6,2127						1.3	0.7			101	4,8250		0,4,4123	no	frameshift	CARD6	NM_032587.3		0,10,6250	A1A1,A1R,RR		0.0485,0.1406,0.0799				10,12510				SO:0001589	frameshift_variant	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40853093_40853094insT	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.1667dupT	5.37:g.40853101_40853101dupT	ENSP00000254691:p.Phe554fs					CARD6_ENST00000381677.3_Intron	p.VF553fs	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN			3	1858_1859	+			553					Q52LR2	Frame_Shift_Ins	INS	ENST00000254691.5	37	c.1659_1660insT	CCDS3935.1																																																																																				0.416	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			9	789						9	789	---	---	---	---
SLC22A4	6583	broad.mit.edu	37	5	131676327	131676327	+	Frame_Shift_Del	DEL	T	T	-	rs72552721		TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr5:131676327delT	ENST00000200652.3	+	9	1688	c.1514delT	c.(1513-1515)cttfs	p.L505fs	AC034220.3_ENST00000417795.1_RNA|AC034220.3_ENST00000437091.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	505					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)	p.E509fs*1(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	ATCCTCACCCTTTTTTTCCCT	0.418																																						ENST00000200652.3																			1	Insertion - Frameshift(1)	p.E509fs*1(1)	ovary(1)	endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(1513-1515)ctfs		solute carrier family 22 (organic cation/zwitterion transporter), member 4	L-Carnitine(DB00583)						222.0	206.0	211.0					5																	131676327		2203	4300	6503	SO:0001589	frameshift_variant	6583				body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity	g.chr5:131676327delT	AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"""Solute carriers"""	10968	protein-coding gene	gene with protein product		604190	"""solute carrier family 22 (organic cation/ergothioneine transporter), member 4"""			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.1514delT	5.37:g.131676327delT	ENSP00000200652:p.Leu505fs					AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA	p.L505fs	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	1688	+		all_cancers(142;0.0752)|Breast(839;0.198)	505					O14546	Frame_Shift_Del	DEL	ENST00000200652.3	37	c.1514delT	CCDS4153.1																																																																																				0.418	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132661.1	NM_003059		7	1091						7	1091	---	---	---	---
VDAC1	7416	broad.mit.edu	37	5	133316639	133316639	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr5:133316639delT	ENST00000265333.3	-	6	576	c.332delA	c.(331-333)aatfs	p.N111fs	VDAC1_ENST00000395047.2_Frame_Shift_Del_p.N111fs|VDAC1_ENST00000395044.3_Frame_Shift_Del_p.N111fs	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	111					anion transport (GO:0006820)|apoptotic process (GO:0006915)|behavioral fear response (GO:0001662)|epithelial cell differentiation (GO:0030855)|learning (GO:0007612)|neuron-neuron synaptic transmission (GO:0007270)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein kinase binding (GO:0019901)|voltage-gated anion channel activity (GO:0008308)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	GATTTTAGCATTTTTTTTCCT	0.403																																					NSCLC(127;1776 1806 35523 41489 48154)	ENST00000265333.3																			0				endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(331-333)atfs		voltage-dependent anion channel 1	Dihydroxyaluminium(DB01375)						51.0	56.0	54.0					5																	133316639		2203	4300	6503	SO:0001589	frameshift_variant	7416				apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity	g.chr5:133316639delT		CCDS4168.1	5q31	2011-11-15			ENSG00000213585	ENSG00000213585		"""Voltage-dependent anion channels"""	12669	protein-coding gene	gene with protein product		604492				7517385	Standard	NM_003374		Approved	MGC111064, PORIN	uc003kyr.2	P21796	OTTHUMG00000129118	ENST00000265333.3:c.332delA	5.37:g.133316639delT	ENSP00000265333:p.Asn111fs					VDAC1_ENST00000395047.2_Frame_Shift_Del_p.N111fs|VDAC1_ENST00000395044.3_Frame_Shift_Del_p.N111fs	p.N111fs	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		6	576	-			111					B3KVK4|D3DQ93|Q5FVE7|Q9UIQ5|Q9UPL0	Frame_Shift_Del	DEL	ENST00000265333.3	37	c.332delA	CCDS4168.1																																																																																				0.403	VDAC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259208.1			7	408						7	408	---	---	---	---
ZNF322	79692	broad.mit.edu	37	6	26637624	26637624	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr6:26637624delT	ENST00000415922.2	-	4	1803	c.1158delA	c.(1156-1158)aaafs	p.K386fs	ZNF322_ENST00000471278.1_Frame_Shift_Del_p.K386fs|RP11-457M11.2_ENST00000456172.1_RNA|ZNF322_ENST00000461899.1_5'Flank	NM_024639.4	NP_078915.2	Q6U7Q0	ZN322_HUMAN	zinc finger protein 322	386					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GCTCAAGACCTTTTTCACTCA	0.413																																						ENST00000415922.2																			0											c.(1156-1158)aafs		zinc finger protein 322							175.0	133.0	147.0					6																	26637624		2201	4298	6499	SO:0001589	frameshift_variant	79692				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr6:26637624delT	AY376736	CCDS4617.1	6p22.1	2013-01-08	2011-07-29	2011-07-29	ENSG00000181315	ENSG00000181315		"""Zinc fingers, C2H2-type"""	23640	protein-coding gene	gene with protein product		610847	"""zinc finger protein 489"", ""HLA complex group 12"", ""zinc finger protein 322A"""	ZNF489, ZNF388, HCG12, ZNF322A		15555580	Standard	NM_024639		Approved	bA457M11.3, bA457M11.2	uc021yny.1	Q6U7Q0	OTTHUMG00000014460	ENST00000415922.2:c.1158delA	6.37:g.26637624delT	ENSP00000418897:p.Lys386fs					ZNF322_ENST00000471278.1_Frame_Shift_Del_p.K386fs	p.K386fs	NM_024639.4	NP_078915.2	Q6U7Q0	Z322A_HUMAN			4	1803	-			386					A8K1X3|Q0VDH6|Q6B0G2|Q86W72|Q9H5I9	Frame_Shift_Del	DEL	ENST00000415922.2	37	c.1158delA	CCDS4617.1																																																																																				0.413	ZNF322-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040126.2	NM_024639		7	1380						7	1380	---	---	---	---
TTK	7272	broad.mit.edu	37	6	80751896	80751897	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr6:80751896_80751897insA	ENST00000369798.2	+	22	2662_2663	c.2551_2552insA	c.(2551-2553)gaafs	p.E851fs	TTK_ENST00000509894.1_Frame_Shift_Ins_p.E850fs|TTK_ENST00000230510.3_Frame_Shift_Ins_p.E850fs	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	851					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		CAAGACTTTTGAAAAAAAAAGG	0.302																																						ENST00000509894.1																			6	Deletion - Frameshift(5)|Insertion - Frameshift(1)	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)	stomach(2)|ovary(2)|lung(1)|large_intestine(1)	endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(2548-2550)aaafs		TTK protein kinase																																				SO:0001589	frameshift_variant	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80751896_80751897insA		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.2560dupA	6.37:g.80751905_80751905dupA	ENSP00000358813:p.Glu851fs					TTK_ENST00000369798.2_Frame_Shift_Ins_p.K851fs|TTK_ENST00000230510.3_Frame_Shift_Ins_p.K850fs	p.K850fs			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	22	3377_3378	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	851					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Frame_Shift_Ins	INS	ENST00000369798.2	37	c.2548_2549insA	CCDS4993.1																																																																																				0.302	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			7	347						7	347	---	---	---	---
GRIK2	2898	broad.mit.edu	37	6	102503431	102503432	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr6:102503431_102503432insA	ENST00000421544.1	+	15	3028_3029	c.2538_2539insA	c.(2539-2541)aaafs	p.K847fs	GRIK2_ENST00000318991.6_Frame_Shift_Ins_p.K847fs|GRIK2_ENST00000369138.1_Frame_Shift_Ins_p.K847fs|GRIK2_ENST00000369137.3_Frame_Shift_Ins_p.K771fs|GRIK2_ENST00000413795.1_Frame_Shift_Ins_p.K847fs|GRIK2_ENST00000369134.4_Frame_Shift_Ins_p.K798fs	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	847					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.N849fs*12(1)|p.N849fs*14(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TATACAAATCCAAAAAAAACGC	0.351																																						ENST00000369138.1																			2	Deletion - Frameshift(2)	p.N849fs*12(1)|p.N849fs*14(1)	lung(2)	NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(2536-2541)tcaaaafs		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102503431_102503432insA		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2546dupA	6.37:g.102503439_102503439dupA	ENSP00000397026:p.Lys847fs					GRIK2_ENST00000421544.1_Frame_Shift_Ins_p.SK846fs|GRIK2_ENST00000369134.4_Frame_Shift_Ins_p.SK797fs|GRIK2_ENST00000413795.1_Frame_Shift_Ins_p.SK846fs|GRIK2_ENST00000369137.3_Frame_Shift_Ins_p.SK770fs|GRIK2_ENST00000318991.6_Frame_Shift_Ins_p.SK846fs	p.SK846fs	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	15	3028_3029	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	846					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Frame_Shift_Ins	INS	ENST00000421544.1	37	c.2538_2539insA	CCDS5048.1																																																																																				0.351	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			9	371						9	371	---	---	---	---
ZNRF2P2	100271874	broad.mit.edu	37	7	29720482	29720483	+	RNA	INS	-	-	G	rs70980562	byFrequency	TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr7:29720482_29720483insG	ENST00000426767.1	-	0	366				MIR550A3_ENST00000390735.2_RNA	NR_024278.1				zinc and ring finger 2 pseudogene 2																		CTCTCAGATCAGTGATGCCCTG	0.485													GG|G|GG|deletion	1162	0.232029	0.3238	0.3055	5008	,	,		15903	0.0486		0.3012	False		,,,				2504	0.1738					ENST00000426767.1																			0																																																			0							g.chr7:29720482_29720483insG			7p14.3	2011-08-22			ENSG00000239968	ENSG00000225264			42793	pseudogene	pseudogene							Standard	NR_027347		Approved				OTTHUMG00000152750		7.37:g.29720483_29720483dupG								NR_024278.1						0	366	-									RNA	INS	ENST00000426767.1	37																																																																																						0.485	ZNRF2P2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000327679.1	NR_027347		12	148						12	148	---	---	---	---
CCT6P3	643180	broad.mit.edu	37	7	64528813	64528814	+	RNA	INS	-	-	T			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr7:64528813_64528814insT	ENST00000426828.1	+	0	621				SNORA22_ENST00000384614.1_RNA|SNORA15_ENST00000384334.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		CTTTCTGTAACTTTTTTTTTTT	0.317																																						ENST00000426828.1																			0																																																			0							g.chr7:64528813_64528814insT			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64528824_64528824dupT								NR_033416.1						0	621	+									RNA	INS	ENST00000426828.1	37																																																																																						0.317	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			7	32						7	32	---	---	---	---
STEAP2	261729	broad.mit.edu	37	7	89856465	89856465	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr7:89856465delT	ENST00000287908.3	+	3	1066	c.673delT	c.(673-675)tttfs	p.F227fs	STEAP2_ENST00000394626.1_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394632.1_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000402625.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394621.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394622.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394629.2_Frame_Shift_Del_p.F227fs	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	227					copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					CTTGGCCACATTTTTTTTCCT	0.393																																						ENST00000287908.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						c.(673-675)ttfs		STEAP family member 2, metalloreductase							108.0	103.0	105.0					7																	89856465		2203	4300	6503	SO:0001589	frameshift_variant	261729				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity	g.chr7:89856465delT	AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"""prostate cancer associated protein 1"", ""six transmembrane epithelial antigen of the prostate 2"""	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.673delT	7.37:g.89856465delT	ENSP00000287908:p.Phe227fs					STEAP2_ENST00000394622.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394626.1_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394629.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394632.1_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000402625.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394621.2_Frame_Shift_Del_p.F227fs	p.F227fs	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN			3	1066	+	all_hematologic(106;0.112)		227					A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Frame_Shift_Del	DEL	ENST00000287908.3	37	c.673delT	CCDS5615.1																																																																																				0.393	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	NM_152999		7	636						7	636	---	---	---	---
CYP51A1	1595	broad.mit.edu	37	7	91752494	91752494	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr7:91752494delT	ENST00000003100.8	-	7	1191	c.1026delA	c.(1024-1026)aaafs	p.K342fs	LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Frame_Shift_Del_p.K237fs	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	336					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via 24,25-dihydrolanosterol (GO:0033488)|demethylation (GO:0070988)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|sterol 14-demethylase activity (GO:0008398)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Itraconazole(DB01167)|Ketoconazole(DB01026)|Sertaconazole(DB01153)|Tioconazole(DB01007)	CTAAATAACATTTTTTTTGAA	0.398																																					GBM(70;1100 1190 11592 25836 51397)	ENST00000003100.8																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10						c.(1024-1026)aafs		cytochrome P450, family 51, subfamily A, polypeptide 1	Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)						119.0	123.0	121.0					7																	91752494		2203	4300	6503	SO:0001589	frameshift_variant	1595				cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity	g.chr7:91752494delT	U51685	CCDS5623.1, CCDS55123.1	7q21.2	2012-10-10	2003-02-14	2003-02-28	ENSG00000001630	ENSG00000001630		"""Cytochrome P450s"""	2649	protein-coding gene	gene with protein product		601637	"""cytochrome P450, 51 (lanosterol 14-alpha-demethylase)"""	CYP51		8975714	Standard	NM_000786		Approved	CP51, CYPL1, P450L1, LDM, P450-14DM	uc003ulm.4	Q16850	OTTHUMG00000131131	ENST00000003100.8:c.1026delA	7.37:g.91752494delT	ENSP00000003100:p.Lys342fs					CYP51A1_ENST00000450723.1_Frame_Shift_Del_p.K237fs|LRRD1_ENST00000422722.1_5'UTR	p.K342fs	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		7	1191	-	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		336					A4D1F8|B2RAI4|B4DJ55|O00770|O00772|Q16784|Q8N1A8|Q99868	Frame_Shift_Del	DEL	ENST00000003100.8	37	c.1026delA	CCDS5623.1																																																																																				0.398	CYP51A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253812.4			11	764						11	764	---	---	---	---
SAMD9L	219285	broad.mit.edu	37	7	92760737	92760738	+	Frame_Shift_Ins	INS	-	-	T	rs10282508	byFrequency	TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr7:92760737_92760738insT	ENST00000318238.4	-	5	5763_5764	c.4547_4548insA	c.(4546-4548)aatfs	p.N1516fs	SAMD9L_ENST00000437805.1_Frame_Shift_Ins_p.N1516fs|SAMD9L_ENST00000411955.1_Frame_Shift_Ins_p.N1516fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1516			N -> T (in dbSNP:rs10282508).		common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTTTGACTTCATTTTTTTTCCA	0.391																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(4546-4548)agafs		sterile alpha motif domain containing 9-like																																				SO:0001589	frameshift_variant	219285							g.chr7:92760737_92760738insT	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.4548dupA	7.37:g.92760745_92760745dupT	ENSP00000326247:p.Asn1516fs					SAMD9L_ENST00000437805.1_Frame_Shift_Ins_p.R1516fs|SAMD9L_ENST00000411955.1_Frame_Shift_Ins_p.R1516fs	p.R1516fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	5763_5764	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		1516		N -> T (in dbSNP:rs10282508).			A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Frame_Shift_Ins	INS	ENST00000318238.4	37	c.4547_4548insA	CCDS34681.1																																																																																				0.391	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		8	677						8	677	---	---	---	---
TRBV7-4	28594	broad.mit.edu	37	7	142176678	142176679	+	RNA	DEL	CA	CA	-	rs147246909		TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr7:142176678_142176679delCA	ENST00000390369.2	-	0	49									T cell receptor beta variable 7-4 (gene/pseudogene)																		GTAGTCATCGCACACACACACA	0.46																																						ENST00000390369.2																			0																	118,3528		13,92,1718						-5.4	0.0			116	306,7588		28,250,3669	no	intergenic				41,342,5387	A1A1,A1R,RR		3.8764,3.2364,3.6742				424,11116						0							g.chr7:142176678_142176679delCA	L36092		7q34	2012-02-07	2008-09-12		ENSG00000253409	ENSG00000253409		"""T cell receptors / TRB locus"""	12238	other	T cell receptor gene			"""T cell receptor beta variable 7-4"""			8650574	Standard	NG_001333		Approved	TRBV74, TCRBV6S8A2T, TCRBV7S4			OTTHUMG00000158508		7.37:g.142176688_142176689delCA														0	49	-									RNA	DEL	ENST00000390369.2	37																																																																																						0.460	TRBV7-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351214.2	NG_001333		14	260						14	260	---	---	---	---
WRN	7486	broad.mit.edu	37	8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-	rs555283914	byFrequency	TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr8:30945377_30945379delAAG	ENST00000298139.5	+	12	1766_1768	c.1517_1519delAAG	c.(1516-1521)aaagaa>aaa	p.E510del		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	510	Poly-Glu.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.36			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					3	0.000599042	0.0	0.0	5008	,	,		22085	0.001		0.001	False		,,,				2504	0.001				Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"""Mis, N, F, S"""	Werner syndrome (RECQL2)			"""L, E, M, O"""		"""osteosarcoma, meningioma, others"""			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(1516-1521)aaa>a	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like																																				SO:0001651	inframe_deletion	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30945377_30945379delAAG		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1517_1519delAAG	8.37:g.30945386_30945388delAAG	ENSP00000298139:p.Glu510del						p.KE506del	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	12	1766_1768	+		Breast(100;0.195)	506					A1KYY9	In_Frame_Del	DEL	ENST00000298139.5	37	c.1517_1519delAAG	CCDS6082.1																																																																																				0.360	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			8	444						8	444	---	---	---	---
PREX2	80243	broad.mit.edu	37	8	68992720	68992721	+	Frame_Shift_Ins	INS	-	-	T	rs182978151		TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr8:68992720_68992721insT	ENST00000288368.4	+	16	1962_1963	c.1685_1686insT	c.(1684-1689)cgttttfs	p.RF562fs	RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	562	DEP 2. {ECO:0000255|PROSITE- ProRule:PRU00066}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTACTTTTCCGTTTTTTTTCGG	0.332																																						ENST00000288368.4																			0				NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(1684-1686)cttfs		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2																																				SO:0001589	frameshift_variant	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68992720_68992721insT	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.1693dupT	8.37:g.68992728_68992728dupT	ENSP00000288368:p.Arg562fs					PREX2_ENST00000529398.1_3'UTR	p.L562fs	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			16	1962_1963	+			562			DEP 2.		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Frame_Shift_Ins	INS	ENST00000288368.4	37	c.1685_1686insT	CCDS6201.1																																																																																				0.332	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		7	368						7	368	---	---	---	---
TP53INP1	94241	broad.mit.edu	37	8	95952409	95952411	+	In_Frame_Del	DEL	TCT	TCT	-	rs548441545|rs563445319	byFrequency	TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr8:95952409_95952411delTCT	ENST00000342697.4	-	3	557_559	c.150_152delAGA	c.(148-153)gaagag>gag	p.50_51EE>E	TP53INP1_ENST00000448464.2_In_Frame_Del_p.50_51EE>E|TP53INP1_ENST00000378776.4_In_Frame_Del_p.50_51EE>E|NDUFAF6_ENST00000396113.1_Intron	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	50	Glu-rich.				apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to hydroperoxide (GO:0071447)|cellular response to methyl methanesulfonate (GO:0072703)|cellular response to UV (GO:0034644)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|response to heat (GO:0009408)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)	p.E50E(1)		kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					GATGTCCTCCTCTTCTTCTTCTT	0.458														16	0.00319489	0.0045	0.0014	5008	,	,		22458	0.0		0.001	False		,,,				2504	0.0082					ENST00000342697.4																			1	Substitution - coding silent(1)	p.E50E(1)	large_intestine(1)	kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9						c.(148-153)gag>ga		tumor protein p53 inducible nuclear protein 1			,	50,2,4210		0,0,50,0,2,2079					,	-3.8	0.0			119	68,3,8183		0,0,68,0,3,4056	no	codingComplex,codingComplex	TP53INP1	NM_033285.3,NM_001135733.1	,	0,0,118,0,5,6135	A1A1,A1A2,A1R,A2A2,A2R,RR		0.8602,1.2201,0.9827	,	,		118,5,12393				SO:0001651	inframe_deletion	0				apoptosis	PML body		g.chr8:95952409_95952411delTCT	AF409115	CCDS6265.1, CCDS47899.1	8q22	2004-03-11				ENSG00000164938			18022	protein-coding gene	gene with protein product		606185				11511362, 12438758	Standard	NM_033285		Approved	DKFZp434M1317, FLJ22139, P53DINP1, SIP, TP53INP1A, TP53INP1B, Teap	uc003yhg.3	Q96A56		ENST00000342697.4:c.150_152delAGA	8.37:g.95952418_95952420delTCT	ENSP00000344215:p.Glu52del					TP53INP1_ENST00000378776.4_In_Frame_Del_p.EE50del|TP53INP1_ENST00000448464.2_In_Frame_Del_p.EE50del|NDUFAF6_ENST00000396113.1_Intron	p.EE50del	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN			3	557_559	-	Breast(36;8.75e-07)		50			Glu-rich.		B2RCE5|Q969R9	In_Frame_Del	DEL	ENST00000342697.4	37	c.150_152delAGA	CCDS6265.1																																																																																				0.458	TP53INP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379818.1			10	374						10	374	---	---	---	---
DPYS	1807	broad.mit.edu	37	8	105440214	105440214	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr8:105440214delT	ENST00000351513.2	-	6	1218	c.1086delA	c.(1084-1086)aaafs	p.K362fs	AP003471.2_ENST00000410226.1_RNA	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	362					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCACCACGCCTTTTTCCCATA	0.478																																						ENST00000351513.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1084-1086)aafs		dihydropyrimidinase							179.0	176.0	177.0					8																	105440214		2203	4300	6503	SO:0001589	frameshift_variant	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105440214delT	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1086delA	8.37:g.105440214delT	ENSP00000276651:p.Lys362fs						p.K362fs	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		6	1218	-			362						Frame_Shift_Del	DEL	ENST00000351513.2	37	c.1086delA	CCDS6302.1																																																																																				0.478	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		8	1351						8	1351	---	---	---	---
AGO2	27161	broad.mit.edu	37	8	141554345	141554345	+	Frame_Shift_Del	DEL	G	G	-	rs148575703	byFrequency	TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr8:141554345delG	ENST00000220592.5	-	14	1918	c.1806delC	c.(1804-1806)cccfs	p.P602fs	AGO2_ENST00000519980.1_Frame_Shift_Del_p.P602fs	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	602	Piwi. {ECO:0000255|HAMAP-Rule:MF_03031}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										CATCCCCGGCGGGGGGGTGAG	0.647																																						ENST00000220592.5																			0											c.(1804-1806)ccfs		argonaute RISC catalytic component 2							92.0	101.0	98.0					8																	141554345		2203	4300	6503	SO:0001589	frameshift_variant	27161							g.chr8:141554345delG	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.1806delC	8.37:g.141554345delG	ENSP00000220592:p.Pro602fs					AGO2_ENST00000519980.1_Frame_Shift_Del_p.P602fs	p.P602fs	NM_012154.3	NP_036286.2					14	1918	-								Q8TCZ5|Q8WV58|Q96ID1	Frame_Shift_Del	DEL	ENST00000220592.5	37	c.1806delC	CCDS6380.1																																																																																				0.647	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			7	1615						7	1615	---	---	---	---
PLIN2	123	broad.mit.edu	37	9	19119813	19119813	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr9:19119813delT	ENST00000276914.2	-	6	791	c.612delA	c.(610-612)aaafs	p.K204fs	PLIN2_ENST00000411567.1_Frame_Shift_Del_p.K161fs	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	204					cellular lipid metabolic process (GO:0044255)|lipid storage (GO:0019915)|long-chain fatty acid transport (GO:0015909)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						ATCCTTCAACTTTTTTTGCTT	0.428																																						ENST00000276914.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						c.(610-612)aafs		perilipin 2							112.0	120.0	117.0					9																	19119813		2203	4300	6503	SO:0001589	frameshift_variant	123				cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle		g.chr9:19119813delT	X97324	CCDS6490.1	9p22.1	2009-08-12	2009-08-12	2009-08-12	ENSG00000147872	ENSG00000147872		"""Perilipins"""	248	protein-coding gene	gene with protein product	"""adipophilin"""	103195	"""adipose differentiation-related protein"""	ADFP		9003395, 19638644	Standard	NM_001122		Approved	ADRP	uc003zno.3	Q99541	OTTHUMG00000019624	ENST00000276914.2:c.612delA	9.37:g.19119813delT	ENSP00000276914:p.Lys204fs					PLIN2_ENST00000411567.1_Frame_Shift_Del_p.K161fs	p.K204fs	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN			6	791	-			204					Q9BSC3	Frame_Shift_Del	DEL	ENST00000276914.2	37	c.612delA	CCDS6490.1																																																																																				0.428	PLIN2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051835.1	NM_001122		9	558						9	558	---	---	---	---
SURF6	6838	broad.mit.edu	37	9	136199557	136199557	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr9:136199557delT	ENST00000372022.4	-	4	698	c.433delA	c.(433-435)aggfs	p.R148fs	SURF6_ENST00000468290.1_5'UTR	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	148					ribosome biogenesis (GO:0042254)	granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		CTCCGCCGCCTTTTCTCCAAG	0.632																																						ENST00000372022.4																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12						c.(433-435)ggfs		surfeit 6							72.0	80.0	77.0					9																	136199557		2203	4300	6503	SO:0001589	frameshift_variant	6838					granular component	DNA binding|RNA binding	g.chr9:136199557delT	AF186772	CCDS6962.1	9q33-q34	2010-07-06			ENSG00000148296	ENSG00000148296			11478	protein-coding gene	gene with protein product	"""surfeit locus protein 6"""	185642				9740673, 15629442	Standard	NM_006753		Approved	FLJ30322, RRP14	uc004cdb.4	O75683	OTTHUMG00000020871	ENST00000372022.4:c.433delA	9.37:g.136199557delT	ENSP00000361092:p.Arg148fs					SURF6_ENST00000468290.1_5'UTR	p.R148fs	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)	4	698	-			148					Q5T8U1|Q9BRK9|Q9BTZ5|Q9UK24	Frame_Shift_Del	DEL	ENST00000372022.4	37	c.433delA	CCDS6962.1																																																																																				0.632	SURF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054905.1	NM_006753		8	915						8	915	---	---	---	---
TM9SF3	56889	broad.mit.edu	37	10	98336475	98336475	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr10:98336475delT	ENST00000371142.4	-	2	430	c.214delA	c.(214-216)agtfs	p.S72fs		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	72						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TGACTGATACTTTTTTTTGAC	0.363																																						ENST00000371142.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15						c.(214-216)gtfs		transmembrane 9 superfamily member 3							146.0	145.0	145.0					10																	98336475		2203	4300	6503	SO:0001589	frameshift_variant	56889					integral to membrane	binding	g.chr10:98336475delT	AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.214delA	10.37:g.98336475delT	ENSP00000360184:p.Ser72fs						p.S72fs	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)	2	430	-		Colorectal(252;0.158)	72					Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Frame_Shift_Del	DEL	ENST00000371142.4	37	c.214delA	CCDS7450.1																																																																																				0.363	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	NM_020123		10	322						10	322	---	---	---	---
SLC22A9	114571	broad.mit.edu	37	11	63149668	63149669	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr11:63149668_63149669insA	ENST00000279178.3	+	6	1241_1242	c.992_993insA	c.(991-996)gcacaafs	p.Q332fs	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	332					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CTGGAGGCAGCACAAAAAAAAA	0.406																																						ENST00000279178.3																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						c.(991-993)gcafs		solute carrier family 22 (organic anion transporter), member 9																																				SO:0001589	frameshift_variant	114571				transmembrane transport	integral to membrane		g.chr11:63149668_63149669insA	AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"""Solute carriers"""	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.993dupA	11.37:g.63149669_63149669dupA	ENSP00000279178:p.Gln332fs					SLC22A9_ENST00000310969.4_3'UTR	p.A331fs	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN			6	1241_1242	+			331					A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Frame_Shift_Ins	INS	ENST00000279178.3	37	c.992_993insA	CCDS8043.1																																																																																				0.406	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		7	533						7	533	---	---	---	---
PAK1	5058	broad.mit.edu	37	11	77069990	77069992	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr11:77069990_77069992delCAT	ENST00000356341.3	-	6	1079_1081	c.548_550delATG	c.(547-552)gatgct>gct	p.D183del	PAK1_ENST00000528203.1_In_Frame_Del_p.D85del|PAK1_ENST00000530617.1_In_Frame_Del_p.D183del|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000278568.4_In_Frame_Del_p.D183del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	183	Interaction with CRIPAK.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGTGGGGTAGcatcatcatcatc	0.478																																						ENST00000356341.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29						c.(547-552)gct>g		p21 protein (Cdc42/Rac)-activated kinase 1			,	392,0,3872		189,0,14,0,0,1929					,	3.9	1.0		dbSNP_134	110	824,25,7405		391,0,42,0,25,3669	no	codingComplex,codingComplex	PAK1	NM_002576.4,NM_001128620.1	,	580,0,56,0,25,5598	A1A1,A1A2,A1R,A2A2,A2R,RR		10.2859,9.1932,9.9137	,	,		1216,25,11277				SO:0001651	inframe_deletion	5058				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity	g.chr11:77069990_77069992delCAT	U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"""STE20 homolog, yeast"""	602590	"""p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)"", ""p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"""			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.548_550delATG	11.37:g.77069999_77070001delCAT	ENSP00000348696:p.Asp183del					PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del	p.DA183del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN			6	1079_1081	-	all_cancers(14;1.75e-18)		183			Interaction with CRIPAK.		O75561|Q13567|Q32M53|Q32M54|Q86W79	In_Frame_Del	DEL	ENST00000356341.3	37	c.548_550delATG	CCDS8250.1																																																																																				0.478	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576		10	328						10	328	---	---	---	---
NOX4	50507	broad.mit.edu	37	11	89106662	89106663	+	Splice_Site	INS	-	-	A	rs548576417|rs552289081|rs56022003	byFrequency	TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr11:89106662_89106663insA	ENST00000263317.4	-	12	1313		c.e12-2		NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000535633.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000343727.5_Splice_Site			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.?(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTTGGACACTAAAAAAAAATA	0.292													?|AAAAAAAAA|AAAAAAAAAA|unsure	31	0.0061901	0.0227	0.0014	5008	,	,		14064	0.0		0.0	False		,,,				2504	0.0					ENST00000535633.1																			1	Unknown(1)	p.?(1)	ovary(1)	NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44						c.e12-2		NADPH oxidase 4			,,	92,4164		2,88,2038					,,	5.2	1.0		dbSNP_129	80	7,8213		0,7,4103	no	splice-3,splice-3,splice-3	NOX4	NM_016931.3,NM_001143837.1,NM_001143836.1	,,	2,95,6141	A1A1,A1R,RR		0.0852,2.1617,0.7935	,,	,,		99,12377				SO:0001630	splice_region_variant	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89106662_89106663insA	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1075-2->T	11.37:g.89106671_89106671dupA						NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site		NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN			12	1313	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)						A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Splice_Site	INS	ENST00000263317.4	37		CCDS8285.1																																																																																				0.292	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931	Intron	7	454						7	454	---	---	---	---
IFFO1	25900	broad.mit.edu	37	12	6649704	6649706	+	In_Frame_Del	DEL	GGC	GGC	-	rs144019095		TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr12:6649704_6649706delGGC	ENST00000396840.2	-	9	1664_1666	c.1623_1625delGCC	c.(1621-1626)ccgcca>cca	p.541_542PP>P	RP5-940J5.8_ENST00000499202.2_RNA|IFFO1_ENST00000436152.2_In_Frame_Del_p.238_239PP>P|RP5-940J5.9_ENST00000602946.1_RNA|IFFO1_ENST00000465801.1_In_Frame_Del_p.237_238PP>P|IFFO1_ENST00000356896.4_In_Frame_Del_p.545_546PP>P|IFFO1_ENST00000336604.4_In_Frame_Del_p.544_545PP>P			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	541	Poly-Pro.					intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						AGCCTCGCTTGGCGGCGGCGGCG	0.601																																						ENST00000436152.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(712-717)cca>cc		intermediate filament family orphan 1																																				SO:0001651	inframe_deletion	25900					intermediate filament		g.chr12:6649704_6649706delGGC	AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"""Intermediate filament family orphans"""	24970	protein-coding gene	gene with protein product		610495	"""intermediate filament family orphan"""	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.1623_1625delGCC	12.37:g.6649713_6649715delGGC	ENSP00000380052:p.Pro542del					IFFO1_ENST00000356896.4_In_Frame_Del_p.PP545del|IFFO1_ENST00000465801.1_In_Frame_Del_p.PP237del|IFFO1_ENST00000396840.2_In_Frame_Del_p.PP541del|IFFO1_ENST00000336604.4_In_Frame_Del_p.PP544del	p.PP238del			Q0D2I5	IFFO1_HUMAN			11	1273_1275	-			541					Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	In_Frame_Del	DEL	ENST00000396840.2	37	c.714_716delGCC																																																																																					0.601	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730		8	684						8	684	---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6711207	6711209	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr12:6711207_6711209delCTT	ENST00000357008.2	-	4	518_520	c.355_357delAAG	c.(355-357)aagdel	p.K119del	CHD4_ENST00000309577.6_In_Frame_Del_p.K119del|CHD4_ENST00000544040.1_In_Frame_Del_p.K112del|CHD4_ENST00000544484.1_In_Frame_Del_p.K116del	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	119	Poly-Lys.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.K119delK(3)		central_nervous_system(2)	2						TAGGTCCAAGCTTCTTCTTCTTC	0.537																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			3	Deletion - In frame(3)	p.K119delK(3)	central_nervous_system(3)	central_nervous_system(2)	2						c.(355-357)del		chromodomain helicase DNA binding protein 4				115,4123		4,107,2008						4.7	1.0			29	227,7995		2,223,3886	no	coding	CHD4	NM_001273.2		6,330,5894	A1A1,A1R,RR		2.7609,2.7135,2.7448				342,12118				SO:0001651	inframe_deletion	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6711207_6711209delCTT	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.355_357delAAG	12.37:g.6711216_6711218delCTT	ENSP00000349508:p.Lys119del					CHD4_ENST00000544040.1_In_Frame_Del_p.K112del|CHD4_ENST00000357008.2_In_Frame_Del_p.K119del|CHD4_ENST00000544484.1_In_Frame_Del_p.K116del	p.K119del			Q14839	CHD4_HUMAN			4	518_520	-			119			Poly-Lys.		Q8IXZ5	In_Frame_Del	DEL	ENST00000357008.2	37	c.355_357delAAG	CCDS8552.1																																																																																				0.537	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		11	227						11	227	---	---	---	---
FAR2	55711	broad.mit.edu	37	12	29450110	29450110	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr12:29450110delA	ENST00000536681.3	+	4	768	c.522delA	c.(520-522)ccafs	p.P174fs	FAR2_ENST00000182377.4_Frame_Shift_Del_p.P174fs|RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	174					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CTGTGGAGCCAAAAAAAATCA	0.388																																						ENST00000182377.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						c.(520-522)ccfs		fatty acyl CoA reductase 2							108.0	116.0	113.0					12																	29450110		2203	4300	6503	SO:0001589	frameshift_variant	55711				ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	g.chr12:29450110delA	AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	25531	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 2"""		"""male sterility domain containing 1"""	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.522delA	12.37:g.29450110delA	ENSP00000443291:p.Pro174fs					FAR2_ENST00000536681.2_Frame_Shift_Del_p.P174fs|RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs	p.P174fs	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN			4	790	+			174					F8VV73|Q9H0D5|Q9NVW8	Frame_Shift_Del	DEL	ENST00000536681.3	37	c.522delA	CCDS8717.1																																																																																				0.388	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403479.2	NM_018099		11	713						11	713	---	---	---	---
KIF21A	55605	broad.mit.edu	37	12	39727052	39727052	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr12:39727052delT	ENST00000361418.5	-	18	2464	c.2449delA	c.(2449-2451)agafs	p.R817fs	KIF21A_ENST00000395670.3_Frame_Shift_Del_p.R817fs|KIF21A_ENST00000361961.3_Frame_Shift_Del_p.R804fs|KIF21A_ENST00000541463.2_Intron|KIF21A_ENST00000544797.2_Frame_Shift_Del_p.R804fs			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	817					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TCTTGGTTTCTTTTTTGGGCT	0.323																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(2449-2451)gafs		kinesin family member 21A							202.0	200.0	200.0					12																	39727052		2203	4300	6503	SO:0001589	frameshift_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39727052delT	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.2449delA	12.37:g.39727052delT	ENSP00000354878:p.Arg817fs					KIF21A_ENST00000361418.5_Frame_Shift_Del_p.R817fs|KIF21A_ENST00000544797.2_Frame_Shift_Del_p.R804fs|KIF21A_ENST00000541463.2_Intron|KIF21A_ENST00000361961.3_Frame_Shift_Del_p.R804fs	p.R817fs			Q7Z4S6	KI21A_HUMAN			18	2868	-		Lung NSC(34;0.179)|all_lung(34;0.213)	817					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Frame_Shift_Del	DEL	ENST00000361418.5	37	c.2449delA	CCDS53776.1																																																																																				0.323	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		8	1246						8	1246	---	---	---	---
UTP20	27340	broad.mit.edu	37	12	101680157	101680157	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr12:101680157delT	ENST00000261637.4	+	5	559	c.385delT	c.(385-387)tttfs	p.F130fs		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	130					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CTTTCCAGAGTTTTTTTTGAC	0.398																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(385-387)ttfs		UTP20, small subunit (SSU) processome component, homolog (yeast)							226.0	224.0	224.0					12																	101680157		2203	4300	6503	SO:0001589	frameshift_variant	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101680157delT	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.385delT	12.37:g.101680157delT	ENSP00000261637:p.Phe130fs						p.F130fs	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			5	559	+			130					Q9H3H4	Frame_Shift_Del	DEL	ENST00000261637.4	37	c.385delT	CCDS9081.1																																																																																				0.398	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		16	1463						16	1463	---	---	---	---
SDSL	113675	broad.mit.edu	37	12	113872001	113872001	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr12:113872001delC	ENST00000403593.4	+	5	679	c.417delC	c.(415-417)gtcfs	p.V139fs	SDSL_ENST00000345635.4_Frame_Shift_Del_p.V139fs			Q96GA7	SDSL_HUMAN	serine dehydratase-like	139					cellular amino acid metabolic process (GO:0006520)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|pyridoxal phosphate binding (GO:0030170)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						GGGAGAATGTCCCCCCGTTTG	0.612																																						ENST00000403593.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						c.(415-417)gtfs		serine dehydratase-like	Pyridoxal Phosphate(DB00114)						126.0	126.0	126.0					12																	113872001		2203	4300	6503	SO:0001589	frameshift_variant	113675				cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding	g.chr12:113872001delC	AF134473	CCDS9170.1	12q24.21	2014-06-24				ENSG00000139410			30404	protein-coding gene	gene with protein product						16580895	Standard	NM_138432		Approved	SDS-RS1, cSDH	uc001tvi.3	Q96GA7		ENST00000403593.4:c.417delC	12.37:g.113872001delC	ENSP00000385790:p.Val139fs					SDSL_ENST00000345635.4_Frame_Shift_Del_p.V139fs	p.V139fs			Q96GA7	SDSL_HUMAN			5	679	+			139						Frame_Shift_Del	DEL	ENST00000403593.4	37	c.417delC	CCDS9170.1																																																																																				0.612	SDSL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404782.1	NM_138432		7	1481						7	1481	---	---	---	---
MPHOSPH9	10198	broad.mit.edu	37	12	123706321	123706322	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr12:123706321_123706322insA	ENST00000606320.1	-	5	675_676	c.469_470insT	c.(469-471)tctfs	p.S157fs	MPHOSPH9_ENST00000302349.5_Frame_Shift_Ins_p.S5fs|MPHOSPH9_ENST00000541076.2_Frame_Shift_Ins_p.S127fs|MPHOSPH9_ENST00000392425.3_Frame_Shift_Ins_p.S5fs|MPHOSPH9_ENST00000539639.1_5'UTR			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	157						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S5C(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		ACTGCTTAGAGAAAAAAAACCC	0.371																																						ENST00000606320.1																			1	Substitution - Missense(1)	p.S5C(1)	lung(1)	NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33						c.(469-471)tctfs		M-phase phosphoprotein 9				0,4264		0,0,2132						5.9	0.8			74	6,8248		0,6,4121	no	frameshift	MPHOSPH9	NM_022782.2		0,6,6253	A1A1,A1R,RR		0.0727,0.0,0.0479				6,12512				SO:0001589	frameshift_variant	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123706321_123706322insA	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.470dupT	12.37:g.123706329_123706329dupA	ENSP00000475489:p.Ser157fs					MPHOSPH9_ENST00000539639.1_5'UTR|MPHOSPH9_ENST00000302349.5_Frame_Shift_Ins_p.S5fs|MPHOSPH9_ENST00000392425.3_Frame_Shift_Ins_p.S5fs|MPHOSPH9_ENST00000541076.2_Frame_Shift_Ins_p.S127fs	p.S157fs			Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	5	675_676	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		5					A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Frame_Shift_Ins	INS	ENST00000606320.1	37	c.469_470insT																																																																																					0.371	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2			11	537						11	537	---	---	---	---
DDX55	57696	broad.mit.edu	37	12	124103201	124103202	+	Intron	DEL	TG	TG	-			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr12:124103201_124103202delTG	ENST00000238146.4	+	12	1214				SNORA9_ENST00000384170.1_RNA|DDX55_ENST00000538744.1_Intron|DDX55_ENST00000421670.3_De_novo_Start_InFrame|DDX55_ENST00000541259.1_Intron	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55							membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		GAATGTGGTATGTGTGTGTGTG	0.52											OREG0022230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000421670.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14								DEAD (Asp-Glu-Ala-Asp) box polypeptide 55																																				SO:0001627	intron_variant	57696						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:124103201_124103202delTG	AB046815	CCDS9251.1	12q24.31	2003-06-13			ENSG00000111364	ENSG00000111364		"""DEAD-boxes"""	20085	protein-coding gene	gene with protein product						10997877	Standard	NM_020936		Approved	KIAA1595	uc001ufi.3	Q8NHQ9	OTTHUMG00000168695	ENST00000238146.4:c.1165-14TG>-	12.37:g.124103211_124103212delTG			OREG0022230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1531	DDX55_ENST00000541259.1_Intron|DDX55_ENST00000538744.1_Intron|DDX55_ENST00000238146.4_Intron				Q8NHQ9	DDX55_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)	0	639_640	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)							Q658L6|Q8IYH0|Q9HCH7	Translation_Start_Site	DEL	ENST00000238146.4	37		CCDS9251.1																																																																																				0.520	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400616.2			10	320						10	320	---	---	---	---
TPTE2	93492	broad.mit.edu	37	13	20041394	20041394	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr13:20041394delA	ENST00000400230.2	-	7	527	c.483delT	c.(481-483)tttfs	p.F161fs	TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000255310.6_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	161					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACTTAATGTCAAAAAAAATGT	0.303																																						ENST00000400230.2																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(481-483)ttfs		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2			,,	4,21,4229		0,0,4,1,19,2103	46.0	51.0	49.0		,,	2.4	0.0	13		49	5,25,8188		0,1,4,4,16,4084	no	codingComplex,intron,intron	TPTE2	NM_199254.2,NM_130785.3,NM_001141968.1	,,	0,1,8,5,35,6187	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3651,0.5877,0.441	,,	,,	20041394	9,46,12417	2200	4283	6483	SO:0001589	frameshift_variant	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20041394delA	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.483delT	13.37:g.20041394delA	ENSP00000383089:p.Phe161fs					TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000457266.2_Intron	p.F161fs			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	7	527	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	161					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Frame_Shift_Del	DEL	ENST00000400230.2	37	c.483delT	CCDS45014.1																																																																																				0.303	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		10	304						10	304	---	---	---	---
CKAP2	26586	broad.mit.edu	37	13	53049034	53049034	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr13:53049034delA	ENST00000378037.5	+	9	1900	c.1810delA	c.(1810-1812)aaafs	p.K606fs	CKAP2_ENST00000490903.1_Frame_Shift_Del_p.K557fs|CKAP2_ENST00000258607.5_Frame_Shift_Del_p.K605fs	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3			cytoskeleton associated protein 2									p.K605fs*14(2)		breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		TTTCAGTGTGAAAAAAAAGGT	0.318																																						ENST00000378037.5																			2	Deletion - Frameshift(2)	p.K605fs*14(2)	ovary(1)|large_intestine(1)	breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20						c.(1810-1812)aafs		cytoskeleton associated protein 2							38.0	38.0	38.0					13																	53049034		2203	4300	6503	SO:0001589	frameshift_variant	0				apoptosis|cell cycle	centrosome|microtubule|spindle pole		g.chr13:53049034delA	AF177227	CCDS9435.1, CCDS41893.1, CCDS66557.1, CCDS73578.1	13q14	2014-03-21			ENSG00000136108	ENSG00000136108			1990	protein-coding gene	gene with protein product		611569				9771967	Standard	XM_005266343		Approved	LB1, FLJ10749, se20-10, TMAP	uc001vgv.2	Q8WWK9	OTTHUMG00000016967	ENST00000378037.5:c.1810delA	13.37:g.53049034delA	ENSP00000367276:p.Lys606fs					CKAP2_ENST00000490903.1_Frame_Shift_Del_p.K557fs|CKAP2_ENST00000258607.5_Frame_Shift_Del_p.K605fs	p.K606fs	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3	Q8WWK9	CKAP2_HUMAN		GBM - Glioblastoma multiforme(99;2.6e-08)	9	1900	+		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	606						Frame_Shift_Del	DEL	ENST00000378037.5	37	c.1810delA	CCDS41893.1																																																																																				0.318	CKAP2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355010.2			7	299						7	299	---	---	---	---
RBM26	64062	broad.mit.edu	37	13	79918806	79918807	+	Frame_Shift_Ins	INS	-	-	T			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr13:79918806_79918807insT	ENST00000438737.2	-	15	2621_2622	c.2181_2182insA	c.(2179-2184)aaacagfs	p.Q728fs	RBM26_ENST00000267229.7_Frame_Shift_Ins_p.Q701fs|RBM26_ENST00000438724.1_Frame_Shift_Ins_p.Q704fs			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	728					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GTACTTACCTGTTTTTTTTTCT	0.332																																						ENST00000438737.2																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(2179-2184)aaaggafs		RNA binding motif protein 26																																				SO:0001589	frameshift_variant	64062				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr13:79918806_79918807insT	AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.2182dupA	13.37:g.79918815_79918815dupT	ENSP00000387531:p.Gln728fs					RBM26_ENST00000267229.7_Frame_Shift_Ins_p.G701fs|RBM26_ENST00000438724.1_Frame_Shift_Ins_p.G704fs	p.G728fs			Q5T8P6	RBM26_HUMAN		GBM - Glioblastoma multiforme(99;0.0188)	15	2621_2622	-		Acute lymphoblastic leukemia(28;0.0279)	728					B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Frame_Shift_Ins	INS	ENST00000438737.2	37	c.2181_2182insA																																																																																					0.332	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	NM_022118		10	208						10	208	---	---	---	---
RP11-666E17.1	0	broad.mit.edu	37	14	82284325	82284326	+	lincRNA	INS	-	-	T	rs201030684	byFrequency	TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr14:82284325_82284326insT	ENST00000554814.1	+	0	220																											tccttccttccttcttccttcc	0.52													|||unknown(STR4?)	267	0.0533147	0.0847	0.0432	5008	,	,		20774	0.0129		0.0775	False		,,,				2504	0.0348					ENST00000554814.1																			0																																																			0							g.chr14:82284325_82284326insT																													14.37:g.82284327_82284327dupT														0	220	+									RNA	INS	ENST00000554814.1	37																																																																																						0.520	RP11-666E17.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000413276.1			3	3						3	3	---	---	---	---
SYNE3	161176	broad.mit.edu	37	14	95921888	95921890	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr14:95921888_95921890delCTC	ENST00000334258.5	-	5	975_977	c.961_963delGAG	c.(961-963)gagdel	p.E321del	SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del|SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	321					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						CCCGCAGCCGCTCCTCCTCCTCC	0.616																																						ENST00000334258.5																			0				breast(1)|endometrium(2)|lung(25)	28						c.(961-963)del		spectrin repeat containing, nuclear envelope family member 3																																				SO:0001651	inframe_deletion	161176							g.chr14:95921888_95921890delCTC	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.961_963delGAG	14.37:g.95921897_95921899delCTC	ENSP00000334308:p.Glu321del					SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del	p.E321del	NM_152592.3	NP_689805.3					5	975_977	-								A6H8H3|Q86SX5|Q8N7G8	In_Frame_Del	DEL	ENST00000334258.5	37	c.961_963delGAG	CCDS9935.1																																																																																				0.616	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		10	604						10	604	---	---	---	---
SLTM	79811	broad.mit.edu	37	15	59182525	59182526	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr15:59182525_59182526delTC	ENST00000380516.2	-	15	2120_2121	c.2033_2034delGA	c.(2032-2034)agafs	p.R678fs	SLTM_ENST00000536328.1_Frame_Shift_Del_p.R247fs|AC025918.2_ENST00000452467.1_RNA	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	678	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGCGTTCCATTCTCTCTCTCTC	0.431																																						ENST00000380516.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2032-2034)afs		SAFB-like, transcription modulator																																				SO:0001589	frameshift_variant	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59182525_59182526delTC	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.2033_2034delGA	15.37:g.59182535_59182536delTC	ENSP00000369887:p.Arg678fs					AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Frame_Shift_Del_p.R247fs	p.R678fs	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN			15	2120_2121	-			678			Arg/Glu-rich.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Frame_Shift_Del	DEL	ENST00000380516.2	37	c.2033_2034delGA	CCDS10168.2																																																																																				0.431	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		10	655						10	655	---	---	---	---
UBN1	29855	broad.mit.edu	37	16	4910691	4910693	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr16:4910691_4910693delAGA	ENST00000396658.4	+	6	1401_1403	c.698_700delAGA	c.(697-702)gagaag>gag	p.K238del	UBN1_ENST00000590769.1_In_Frame_Del_p.K238del|UBN1_ENST00000545171.1_In_Frame_Del_p.K238del|UBN1_ENST00000262376.6_In_Frame_Del_p.K238del	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	238	Lys-rich.				chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K234E(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GCCAGTAAGGAGAAGAAGAAGAA	0.453																																						ENST00000396658.4																			1	Substitution - Missense(1)	p.K234E(1)	large_intestine(1)	NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(697-702)gag>g		ubinuclein 1																																				SO:0001651	inframe_deletion	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4910691_4910693delAGA	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.698_700delAGA	16.37:g.4910700_4910702delAGA	ENSP00000379894:p.Lys238del					UBN1_ENST00000262376.6_In_Frame_Del_p.EK233del|UBN1_ENST00000545171.1_In_Frame_Del_p.EK233del|UBN1_ENST00000590769.1_In_Frame_Del_p.EK233del	p.EK233del	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN			6	1401_1403	+			233			Lys-rich.		B7Z6D3|D3DUE8|Q13079|Q9P1P7	In_Frame_Del	DEL	ENST00000396658.4	37	c.698_700delAGA	CCDS10525.1																																																																																				0.453	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		8	749						8	749	---	---	---	---
OGFOD1	55239	broad.mit.edu	37	16	56509438	56509439	+	Frame_Shift_Ins	INS	-	-	G	rs200387944|rs181095853	byFrequency	TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr16:56509438_56509439insG	ENST00000566157.1	+	12	1551_1552	c.1428_1429insG	c.(1429-1431)ggtfs	p.G477fs	OGFOD1_ENST00000568397.1_Frame_Shift_Ins_p.G434fs	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	477					cell proliferation (GO:0008283)|peptidyl-proline hydroxylation (GO:0019511)|protein hydroxylation (GO:0018126)|regulation of translational termination (GO:0006449)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 3-dioxygenase activity (GO:0031544)|peptidyl-proline dioxygenase activity (GO:0031543)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	CAGAATATGGCGGTTTTACTTC	0.371																																						ENST00000566157.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(1426-1431)gggtttfs		2-oxoglutarate and iron-dependent oxygenase domain containing 1	Vitamin C(DB00126)																																			SO:0001589	frameshift_variant	55239						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:56509438_56509439insG	BC032919	CCDS10761.2	16q12.2	2010-11-23			ENSG00000087263	ENSG00000087263			25585	protein-coding gene	gene with protein product	"""TPA1, termination and polyadenylation 1, homolog (S. cerevisiae)"""	615857				10997877	Standard	NM_018233		Approved	KIAA1612, FLJ10826, TPA1	uc002ejb.3	Q8N543	OTTHUMG00000133237	ENST00000566157.1:c.1430dupG	16.37:g.56509440_56509440dupG	ENSP00000457258:p.Gly477fs					OGFOD1_ENST00000568397.1_Frame_Shift_Ins_p.F434fs	p.F477fs	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN			12	1551_1552	+			477					H3BUQ2|Q9H7U5|Q9H9J9|Q9HA87|Q9HCG0|Q9NVB6	Frame_Shift_Ins	INS	ENST00000566157.1	37	c.1428_1429insG	CCDS10761.2																																																																																				0.371	OGFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256976.3	NM_018233		8	366						8	366	---	---	---	---
LOC101928880	101928880	broad.mit.edu	37	16	88226611	88226611	+	lincRNA	DEL	G	G	-			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr16:88226611delG	ENST00000569362.1	+	0	0				RP11-863P13.2_ENST00000568587.1_lincRNA																							tggtggtgatggtggtgatgg	0.522																																						ENST00000568587.1																			0																																																			0							g.chr16:88226611delG																													16.37:g.88226611delG														0	91	-									RNA	DEL	ENST00000569362.1	37																																																																																						0.522	LA16c-444G7.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000430450.1			7	25						7	25	---	---	---	---
KDM6B	23135	broad.mit.edu	37	17	7751859	7751861	+	In_Frame_Del	DEL	CAC	CAC	-	rs59627144|rs377654044	byFrequency	TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr17:7751859_7751861delCAC	ENST00000448097.2	+	11	2584_2586	c.2253_2255delCAC	c.(2251-2256)gtcacc>gtc	p.T762del	KDM6B_ENST00000254846.5_In_Frame_Del_p.T762del			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	762	Pro-rich.|Thr-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CTGTCGCCGTcaccaccaccacc	0.65																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(2251-2256)gtc>gt		lysine (K)-specific demethylase 6B																																				SO:0001651	inframe_deletion	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7751859_7751861delCAC	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.2253_2255delCAC	17.37:g.7751868_7751870delCAC	ENSP00000412513:p.Thr762del					KDM6B_ENST00000448097.2_In_Frame_Del_p.VT751del	p.VT751del	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			11	2642_2644	+			751			Pro-rich.|Thr-rich.		C9IZ40|Q96G33	In_Frame_Del	DEL	ENST00000448097.2	37	c.2253_2255delCAC																																																																																					0.650	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		7	182						7	182	---	---	---	---
SUPT6H	6830	broad.mit.edu	37	17	27030601	27030601	+	IGR	DEL	G	G	-	rs188624178		TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr17:27030601delG	ENST00000314616.6	+	0	6518				PROCA1_ENST00000579650.1_5'Flank|PROCA1_ENST00000439862.3_Frame_Shift_Del_p.P331fs|PROCA1_ENST00000301039.2_Frame_Shift_Del_p.P329fs	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)						chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GTTTGATCCTGGGGGAGATTT	0.547																																						ENST00000301039.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16						c.(985-987)cafs		protein interacting with cyclin A1							105.0	106.0	106.0					17																	27030601		2203	4300	6503	SO:0001628	intergenic_variant	147011				lipid catabolic process		calcium ion binding|phospholipase A2 activity	g.chr17:27030601delG	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85			17.37:g.27030601delG						PROCA1_ENST00000439862.3_Frame_Shift_Del_p.P331fs	p.P329fs	NM_152465.1	NP_689678.1	Q8NCQ7	PRCA1_HUMAN			4	1179	-	Lung NSC(42;0.00431)		357					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Frame_Shift_Del	DEL	ENST00000314616.6	37	c.986delC	CCDS32596.1																																																																																				0.547	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		7	1095						7	1095	---	---	---	---
SEH1L	81929	broad.mit.edu	37	18	12986927	12986929	+	3'UTR	DEL	TCC	TCC	-			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr18:12986927_12986929delTCC	ENST00000262124.11	+	0	2886_2888				RP11-773H22.4_ENST00000588211.1_RNA|SEH1L_ENST00000399892.2_In_Frame_Del_p.P385del	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)						attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522																																						ENST00000399892.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						c.(1135-1140)ctt>ct		SEH1-like (S. cerevisiae)																																				SO:0001624	3_prime_UTR_variant	81929				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		g.chr18:12986927_12986929delTCC	BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"""WD repeat domain containing"""	30379	protein-coding gene	gene with protein product	"""sec13 like protein"", ""nucleoporin Seh1"""	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.*1678TCC>-	18.37:g.12986936_12986938delTCC						SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA	p.LP379del	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN			9	1238_1240	+			0					A8K5B1|Q8NFU6|Q96MH3|Q9C069	In_Frame_Del	DEL	ENST00000262124.11	37	c.1137_1139delTCC	CCDS45832.1																																																																																				0.522	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216		11	350						11	350	---	---	---	---
FHOD3	80206	broad.mit.edu	37	18	34261459	34261460	+	Frame_Shift_Del	DEL	AG	AG	-	rs144071785		TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr18:34261459_34261460delAG	ENST00000359247.4	+	12	1371_1372	c.1371_1372delAG	c.(1369-1374)gcagagfs	p.E458fs	FHOD3_ENST00000590592.1_Frame_Shift_Del_p.E633fs|FHOD3_ENST00000257209.4_Frame_Shift_Del_p.E458fs|FHOD3_ENST00000445677.1_Frame_Shift_Del_p.E420fs|FHOD3_ENST00000591635.1_Intron	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	458					actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CACTGGCAGCAGAGAGAGAGAG	0.46																																						ENST00000257209.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(1369-1374)gcagfs		formin homology 2 domain containing 3																																				SO:0001589	frameshift_variant	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34261459_34261460delAG	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.1371_1372delAG	18.37:g.34261469_34261470delAG	ENSP00000352186:p.Glu458fs					FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000359247.4_Frame_Shift_Del_p.AE457fs|FHOD3_ENST00000445677.1_Frame_Shift_Del_p.AE419fs|FHOD3_ENST00000590592.1_Frame_Shift_Del_p.AE632fs	p.AE457fs	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			12	1493_1494	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	457					A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Frame_Shift_Del	DEL	ENST00000359247.4	37	c.1371_1372delAG																																																																																					0.460	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		13	370						13	370	---	---	---	---
HAUS1	115106	broad.mit.edu	37	18	43685174	43685174	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr18:43685174delA	ENST00000282058.6	+	2	125	c.45delA	c.(43-45)ttafs	p.L15fs	ATP5A1_ENST00000282050.2_5'Flank|HAUS1_ENST00000585518.1_Frame_Shift_Del_p.L15fs	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	15					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						CTGCGTGGTTAAAAAAAATAT	0.393																																					NSCLC(79;183 1423 5813 15597 38427)	ENST00000282058.6																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						c.(43-45)ttfs		HAUS augmin-like complex, subunit 1							65.0	62.0	63.0					18																	43685174		2203	4300	6503	SO:0001589	frameshift_variant	115106				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole		g.chr18:43685174delA	AY360137	CCDS11928.1	18q21.1	2013-10-11	2009-04-20	2009-04-20	ENSG00000152240	ENSG00000152240		"""HAUS augmin-like complex subunits"""	25174	protein-coding gene	gene with protein product		608775	"""coiled-coil domain containing 5 (spindle associated)"""	CCDC5		19427217	Standard	NR_026978		Approved	HEI-C, HsT1461, FLJ40084	uc002lbu.3	Q96CS2	OTTHUMG00000132638	ENST00000282058.6:c.45delA	18.37:g.43685174delA	ENSP00000282058:p.Leu15fs					HAUS1_ENST00000585518.1_Frame_Shift_Del_p.L15fs	p.L15fs	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN			2	125	+			15					B2RDM7|Q8N837	Frame_Shift_Del	DEL	ENST00000282058.6	37	c.45delA	CCDS11928.1																																																																																				0.393	HAUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255885.1	NM_138443		7	228						7	228	---	---	---	---
TNFRSF11A	8792	broad.mit.edu	37	18	60051988	60051990	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr18:60051988_60051990delTGT	ENST00000586569.1	+	10	1610_1612	c.1572_1574delTGT	c.(1570-1575)aatgtg>aag	p.524_525NV>K	TNFRSF11A_ENST00000269485.7_In_Frame_Del_p.207_208NV>K	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	524					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				CCGCAGGAAATGTGACTGGAAAC	0.626																																						ENST00000586569.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29						c.(1570-1575)aag>aa		tumor necrosis factor receptor superfamily, member 11a, NFKB activator																																				SO:0001651	inframe_deletion	8792				adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	g.chr18:60051988_60051990delTGT	AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11908	protein-coding gene	gene with protein product		603499	"""tumor necrosis factor receptor superfamily, member 11a, activator of NFKB"", ""Paget disease of bone 2"", ""loss of heterozygosity, 18, chromosomal region 1"""	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.1572_1574delTGT	18.37:g.60051988_60051990delTGT	ENSP00000465500:p.Asn524_Val525delinsLys					TNFRSF11A_ENST00000269485.7_In_Frame_Del_p.NV207del	p.NV524del	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN			10	1610_1612	+		Colorectal(73;0.188)	524					I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	In_Frame_Del	DEL	ENST00000586569.1	37	c.1572_1574delTGT	CCDS11980.1																																																																																				0.626	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2			26	103						26	103	---	---	---	---
PNMAL1	55228	broad.mit.edu	37	19	46973195	46973197	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr19:46973195_46973197delCTT	ENST00000313683.10	-	2	1401_1403	c.1096_1098delAAG	c.(1096-1098)aagdel	p.K366del	PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Splice_Site_p.K366del	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	366										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CCAAGCTCACCTTCTTCTTCTTC	0.562																																						ENST00000313683.10																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(1096-1098)del		paraneoplastic Ma antigen family-like 1																																				SO:0001651	inframe_deletion	55228							g.chr19:46973195_46973197delCTT	BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013		"""Paraneoplastic Ma antigens"""	25578	protein-coding gene	gene with protein product			"""PNMA-like 1"""			12477932	Standard	NM_018215		Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000313683.10:c.1096_1098delAAG	19.37:g.46973204_46973206delCTT	ENSP00000318131:p.Lys366del					PNMAL1_ENST00000438932.2_Splice_Site_p.K366_splice|PNMAL1_ENST00000602246.1_Intron	p.K366del	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	2	1401_1403	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	366					A8K2F3|Q5U638|Q8N3H4|Q9NVE8	In_Frame_Del	DEL	ENST00000313683.10	37	c.1096_1098delAAG	CCDS33059.1																																																																																				0.562	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403929.1	NM_018215		9	1264						9	1264	---	---	---	---
FUZ	80199	broad.mit.edu	37	19	50310483	50310485	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr19:50310483_50310485delCAG	ENST00000313777.4	-	11	1343_1345	c.1180_1182delCTG	c.(1180-1182)ctgdel	p.L394del	AC006942.4_ENST00000600669.1_RNA|FUZ_ENST00000445575.2_Intron|FUZ_ENST00000533418.1_In_Frame_Del_p.L344del|FUZ_ENST00000528094.1_In_Frame_Del_p.L358del	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	394	Leu-rich.				cilium assembly (GO:0042384)|embryonic body morphogenesis (GO:0010172)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of planar polarity (GO:0001736)|hair follicle development (GO:0001942)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)|negative regulation of neural crest formation (GO:0090301)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|positive regulation of cilium assembly (GO:0045724)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		TCTGGGGAGACAGCAGCAGCAGC	0.635																																						ENST00000313777.4																			0				endometrium(1)|lung(3)	4						c.(1180-1182)del		fuzzy planar cell polarity protein																																				SO:0001651	inframe_deletion	80199				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton		g.chr19:50310483_50310485delCAG	BC016793	CCDS12781.1, CCDS54293.1	19q13.33	2013-03-05	2013-03-05			ENSG00000010361			26219	protein-coding gene	gene with protein product		610622	"""fuzzy homolog (Drosophila)"""			21761479	Standard	NM_001171937		Approved	FLJ22688, Fy	uc002ppq.2	Q9BT04		ENST00000313777.4:c.1180_1182delCTG	19.37:g.50310492_50310494delCAG	ENSP00000313309:p.Leu394del					FUZ_ENST00000533418.1_In_Frame_Del_p.L344del|FUZ_ENST00000445575.2_Intron|FUZ_ENST00000528094.1_In_Frame_Del_p.L358del	p.L394del	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)	11	1343_1345	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	394			Leu-rich.		B2RD86|B5MDH0|Q6PJY0|Q9H613	In_Frame_Del	DEL	ENST00000313777.4	37	c.1180_1182delCTG	CCDS12781.1																																																																																				0.635	FUZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393986.1	NM_025129		7	311						7	311	---	---	---	---
ZNF577	84765	broad.mit.edu	37	19	52375911	52375911	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr19:52375911delA	ENST00000301399.5	-	7	1697	c.1332delT	c.(1330-1332)tttfs	p.F444fs	ZNF577_ENST00000420592.1_Frame_Shift_Del_p.F385fs|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000451628.2_Frame_Shift_Del_p.F385fs|ZNF577_ENST00000412216.1_Intron	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	444					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GATTTCTTGGAAAAGGTTGTT	0.403																																						ENST00000420592.1																			0				breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1153-1155)ttfs		zinc finger protein 577							68.0	64.0	66.0					19																	52375911		2203	4300	6503	SO:0001589	frameshift_variant	84765				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52375911delA	AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"""Zinc fingers, C2H2-type"", ""-"""	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.1332delT	19.37:g.52375911delA	ENSP00000301399:p.Phe444fs					ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000301399.5_Frame_Shift_Del_p.F444fs|ZNF577_ENST00000451628.2_Frame_Shift_Del_p.F385fs|ZNF577_ENST00000485702.1_Intron	p.F385fs			Q9BSK1	ZN577_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	2488	-		all_neural(266;0.0602)	444					A8K0B4|A8K6Z7|C9JFB9	Frame_Shift_Del	DEL	ENST00000301399.5	37	c.1155delT	CCDS12842.2																																																																																				0.403	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679		93	223						93	223	---	---	---	---
ZNF579	163033	broad.mit.edu	37	19	56089908	56089909	+	In_Frame_Ins	INS	-	-	CCG	rs113850871|rs144853314|rs10643219	byFrequency	TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr19:56089908_56089909insCCG	ENST00000325421.4	-	2	1125_1126	c.1097_1098insCGG	c.(1096-1098)ggg>ggCGGg	p.366_366G>GG	CTD-2537I9.5_ENST00000589396.1_lincRNA	NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	366	Gly-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.G366_Q367insG(1)		endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		CTCCGTTCTGCCCTTCTCCCCC	0.748														2999	0.598842	0.8986	0.572	5008	,	,		6768	0.2688		0.5169	False		,,,				2504	0.637					ENST00000325421.4																			1	Insertion - In frame(1)	p.G366_Q367insG(1)	upper_aerodigestive_tract(1)	endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(1096-1098)gca>gCGGca		zinc finger protein 579				1650,390		778,94,148						-1.7	0.9		dbSNP_132	2	2530,2524		968,594,965	no	coding	ZNF579	NM_152600.2		1746,688,1113	A1A1,A1R,RR		49.9406,19.1176,41.077				4180,2914				SO:0001652	inframe_insertion	163033				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56089908_56089909insCCG	AK092772	CCDS12927.1	19q13.42	2013-09-20			ENSG00000218891	ENSG00000218891		"""Zinc fingers, C2H2-type"""	26646	protein-coding gene	gene with protein product							Standard	NM_152600		Approved	FLJ35453	uc002qlh.3	Q8NAF0	OTTHUMG00000180857	ENST00000325421.4:c.1097_1098insCGG	19.37:g.56089908_56089909insCCG	ENSP00000320188:p.Gly366dup						p.366_366A>AA	NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)	2	1125_1126	-			366			Gly-rich.			In_Frame_Ins	INS	ENST00000325421.4	37	c.1097_1098insCGG	CCDS12927.1																																																																																				0.748	ZNF579-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453348.1	NM_152600		13	10						13	10	---	---	---	---
ZNF552	79818	broad.mit.edu	37	19	58319468	58319468	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr19:58319468delT	ENST00000391701.1	-	3	1333	c.1164delA	c.(1162-1164)aaafs	p.K388fs	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552	388					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		TTTGCCTAAATTTTTTTTCAC	0.413																																						ENST00000391701.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(1162-1164)aafs		zinc finger protein 552				4,4260		1,2,2129	147.0	143.0	144.0			2.0	0.0	19		144	2,8252		0,2,4125	no	frameshift	ZNF552	NM_024762.3		1,4,6254	A1A1,A1R,RR		0.0242,0.0938,0.0479			58319468	6,12512	2203	4300	6503	SO:0001589	frameshift_variant	79818				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58319468delT	AK097041	CCDS12963.1	19q13.43	2013-09-20			ENSG00000178935	ENSG00000178935		"""Zinc fingers, C2H2-type"", ""-"""	26135	protein-coding gene	gene with protein product							Standard	XM_005259267		Approved	FLJ21603	uc002qqg.3	Q9H707	OTTHUMG00000183478	ENST00000391701.1:c.1164delA	19.37:g.58319468delT	ENSP00000375582:p.Lys388fs					ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron	p.K388fs	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	3	1333	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	388					B3KUE9|Q6P5A6	Frame_Shift_Del	DEL	ENST00000391701.1	37	c.1164delA	CCDS12963.1																																																																																				0.413	ZNF552-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466829.1	NM_024762		7	695						7	695	---	---	---	---
KIF16B	55614	broad.mit.edu	37	20	16488699	16488699	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr20:16488699delA	ENST00000354981.2	-	7	760	c.603delT	c.(601-603)cttfs	p.L201fs	KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Frame_Shift_Del_p.L201fs|KIF16B_ENST00000355755.3_Frame_Shift_Del_p.L201fs	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	201	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CCGCATCCATAAGTTCTTCTA	0.433																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(601-603)ctfs		kinesin family member 16B							244.0	219.0	228.0					20																	16488699		2203	4300	6503	SO:0001589	frameshift_variant	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16488699delA	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.603delT	20.37:g.16488699delA	ENSP00000347076:p.Leu201fs					KIF16B_ENST00000355755.3_Frame_Shift_Del_p.L201fs|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Frame_Shift_Del_p.L201fs	p.L201fs	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			7	760	-			201			Kinesin-motor.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Frame_Shift_Del	DEL	ENST00000354981.2	37	c.603delT	CCDS13122.1																																																																																				0.433	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		148	1789						148	1789	---	---	---	---
SYNDIG1	79953	broad.mit.edu	37	20	24524183	24524185	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr20:24524183_24524185delGGA	ENST00000376862.3	+	2	1083_1085	c.450_452delGGA	c.(448-453)gtggag>gtg	p.E155del		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	155	Poly-Glu.				intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CCTACGATGTGGAGGAGGAGGAG	0.547																																						ENST00000376862.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						c.(448-453)gtg>gt		synapse differentiation inducing 1																																				SO:0001651	inframe_deletion	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24524183_24524185delGGA	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.450_452delGGA	20.37:g.24524192_24524194delGGA	ENSP00000366058:p.Glu155del						p.VE150del	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN			2	1083_1085	+			150					Q6IA30|Q9H514	In_Frame_Del	DEL	ENST00000376862.3	37	c.450_452delGGA	CCDS13164.1																																																																																				0.547	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		8	1045						8	1045	---	---	---	---
CNBD2	140894	broad.mit.edu	37	20	34618504	34618504	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr20:34618504delC	ENST00000373973.3	+	12	1838	c.1665delC	c.(1663-1665)ctcfs	p.L555fs	CNBD2_ENST00000349339.1_Frame_Shift_Del_p.L551fs|CNBD2_ENST00000538900.1_3'UTR			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	555																	AGAAATACCTCCCCCCATTGA	0.458																																						ENST00000373973.3																			0											c.(1663-1665)ctfs		cyclic nucleotide binding domain containing 2							222.0	216.0	218.0					20																	34618504		2203	4300	6503	SO:0001589	frameshift_variant	140894							g.chr20:34618504delC	AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.1665delC	20.37:g.34618504delC	ENSP00000363084:p.Leu555fs					CNBD2_ENST00000538900.1_3'UTR|CNBD2_ENST00000349339.1_Frame_Shift_Del_p.L551fs	p.L555fs							12	1838	+								Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Frame_Shift_Del	DEL	ENST00000373973.3	37	c.1665delC																																																																																					0.458	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834		8	3200						8	3200	---	---	---	---
CTCFL	140690	broad.mit.edu	37	20	56099187	56099187	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chr20:56099187delT	ENST00000608263.1	-	1	736	c.75delA	c.(73-75)aaafs	p.K25fs	CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608425.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608440.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000608158.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000609232.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000481655.2_Frame_Shift_Del_p.K25fs	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	25					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTTCAGGCCTTTTTCCGGCA	0.502																																						ENST00000426658.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(73-75)aafs		CCCTC-binding factor (zinc finger protein)-like							231.0	258.0	249.0					20																	56099187		2203	4300	6503	SO:0001589	frameshift_variant	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56099187delT		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.75delA	20.37:g.56099187delT	ENSP00000476783:p.Lys25fs					CTCFL_ENST00000423479.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000433949.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.K25fs	p.K25fs			Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		1	736	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		25					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Frame_Shift_Del	DEL	ENST00000608263.1	37	c.75delA	CCDS13459.1																																																																																				0.502	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		15	2148						15	2148	---	---	---	---
RP13-228J13.1	0	broad.mit.edu	37	X	154578866	154578866	+	RNA	DEL	T	T	-			TCGA-3A-A9IS-01A-21D-A397-08	TCGA-3A-A9IS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6adca2bb-c179-4d25-b4c4-52e295b1b984	fa9e0f37-f298-4f1f-af5e-2ddef3f2f935	g.chrX:154578866delT	ENST00000412436.1	-	0	98				RP13-228J13.5_ENST00000453508.1_RNA|RP13-228J13.1_ENST00000444722.1_RNA																							TTTCTCTCTGTTTTTTTTTTT	0.418														73	0.0193377	0.0121	0.0086	3775	,	,		10483	0.0139		0.0149	False		,,,				2504	0.0225					ENST00000412436.1																			0																																																			0							g.chrX:154578866delT																													X.37:g.154578866delT						RP13-228J13.5_ENST00000453508.1_RNA|RP13-228J13.1_ENST00000444722.1_RNA								0	98	-									RNA	DEL	ENST00000412436.1	37																																																																																						0.418	RP13-228J13.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000058799.1			7	49						7	49	---	---	---	---
