#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
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A	rs373469365	byFrequency	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr2:109371498G>A	ENST00000283195.6	+	16	2466	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	780					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCTACACCGTCTCCTACCA	0.353													G|||	3	0.000599042	0.0008	0.0	5008	,	,		15081	0.001		0.0	False		,,,				2504	0.001					ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(2338-2340)ccG>ccA		RAN binding protein 2							98.0	103.0	101.0					2																	109371498		2198	4282	6480	SO:0001819	synonymous_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109371498G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2340G>A	2.37:g.109371498G>A							p.P780P	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			16	2466	+			780					Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.2340G>A	CCDS2079.1																																																																																				0.353	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		6	563	0	0	0	1	0	6	563				
FAM47C	442444	broad.mit.edu	37	X	37027156	37027156	+	Missense_Mutation	SNP	C	C	G	rs368685662		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chrX:37027156C>G	ENST00000358047.3	+	1	725	c.673C>G	c.(673-675)Cag>Gag	p.Q225E		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	225										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCTCCGCCCACAGCCTCCCAA	0.647																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(673-675)Cag>Gag		family with sequence similarity 47, member C							41.0	41.0	41.0					X																	37027156		2202	4298	6500	SO:0001583	missense	442444							g.chrX:37027156C>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.673C>G	X.37:g.37027156C>G	ENSP00000367913:p.Gln225Glu						p.Q225E	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	725	+			225					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.673C>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.683783	0.00101	.	.	ENSG00000198173	ENST00000358047	T	0.12672	2.66	0.96	0.96	0.19631	.	.	.	.	.	T	0.01870	0.0059	N	0.00114	-2.085	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37337	-0.9710	9	0.02654	T	1	.	2.8694	0.05611	0.2407:0.2933:0.466:0.0	.	225	Q5HY64	FA47C_HUMAN	E	225	ENSP00000367913:Q225E	ENSP00000367913:Q225E	Q	+	1	0	FAM47C	36937077	0.000000	0.05858	0.016000	0.15963	0.016000	0.09150	-3.060000	0.00624	-1.049000	0.03234	-1.043000	0.02367	CAG		0.647	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		5	265	0	0	0	1	0	5	265				
DHRS2	10202	broad.mit.edu	37	14	24114078	24114078	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr14:24114078C>A	ENST00000250383.6	+	8	1194	c.718C>A	c.(718-720)Cat>Aat	p.H240N	DHRS2_ENST00000344777.7_Silent_p.I243I	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	240					C21-steroid hormone metabolic process (GO:0008207)|cellular response to oxidative stress (GO:0034599)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	carbonyl reductase (NADPH) activity (GO:0004090)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		CAAGGAACATCATCAGCTGCA	0.512																																						ENST00000250383.6																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(718-720)Cat>Aat		dehydrogenase/reductase (SDR family) member 2							106.0	106.0	106.0					14																	24114078		2203	4300	6503	SO:0001583	missense	10202				C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity	g.chr14:24114078C>A		CCDS9604.1, CCDS41927.1	14q11.2	2011-09-14			ENSG00000100867	ENSG00000100867		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18349	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 1"""	615194				7556196, 11944995, 16685466, 19027726	Standard	NM_182908		Approved	HEP27, SDR25C1	uc001wkt.4	Q13268	OTTHUMG00000028771	ENST00000250383.6:c.718C>A	14.37:g.24114078C>A	ENSP00000250383:p.His240Asn					DHRS2_ENST00000344777.7_Silent_p.I243I	p.H240N	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN		GBM - Glioblastoma multiforme(265;0.00659)	8	1194	+			218					D3DS54|Q53GS4|Q7Z789|Q9H2R2	Missense_Mutation	SNP	ENST00000250383.6	37	c.718C>A	CCDS9604.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.123|8.123	0.781271|0.781271	0.16120|0.16120	.|.	.|.	ENSG00000100867|ENSG00000100867	ENST00000250383;ENST00000553600|ENST00000557535	D;T|.	0.87966|.	-2.32;1.02|.	5.48|5.48	-5.45|-5.45	0.02616|0.02616	.|.	.|.	.|.	.|.	.|.	T|.	0.18676|.	0.0448|.	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	B|.	0.32010|.	0.351|.	B|.	0.27380|.	0.079|.	T|.	0.27400|.	-1.0075|.	8|.	0.54805|.	T|.	0.06|.	.|.	3.8079|3.8079	0.08785|0.08785	0.1079:0.2756:0.1063:0.5103|0.1079:0.2756:0.1063:0.5103	.|.	240|.	D3DS54|.	.|.	N|X	240;140|139	ENSP00000250383:H240N;ENSP00000451485:H140N|.	ENSP00000250383:H240N|.	H|S	+|+	1|2	0|0	DHRS2|DHRS2	23183918|23183918	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.335000|-1.335000	0.02662|0.02662	-1.100000|-1.100000	0.03030|0.03030	-1.098000|-1.098000	0.02139|0.02139	CAT|TCA		0.512	DHRS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000071842.2	NM_182908		39	185	1	0	3.43241e-23	1	4.01489e-23	39	185				
SENP7	57337	broad.mit.edu	37	3	101231946	101231946	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr3:101231946G>C	ENST00000394095.2	-	1	82	c.29C>G	c.(28-30)cCa>cGa	p.P10R	SENP7_ENST00000348610.3_5'UTR|SENP7_ENST00000394094.2_Missense_Mutation_p.P10R|SENP7_ENST00000394091.1_5'UTR|SENP7_ENST00000314261.7_Missense_Mutation_p.P10R|SENP7_ENST00000358203.3_5'UTR	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	10						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGATGAAGATGGCCGTCGCCC	0.617																																						ENST00000394095.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(28-30)cCa>cGa		SUMO1/sentrin specific peptidase 7							98.0	99.0	99.0					3																	101231946		2203	4300	6503	SO:0001583	missense	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101231946G>C		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.29C>G	3.37:g.101231946G>C	ENSP00000377655:p.Pro10Arg					SENP7_ENST00000358203.3_5'UTR|SENP7_ENST00000314261.7_Missense_Mutation_p.P10R|SENP7_ENST00000394091.1_5'UTR|SENP7_ENST00000394094.2_Missense_Mutation_p.P10R|SENP7_ENST00000348610.3_5'UTR	p.P10R	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN			1	82	-			10					A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	c.29C>G	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	G	0.672	-0.801722	0.02841	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261	T;T;T	0.16743	2.32;2.53;2.52	4.34	3.46	0.39613	.	.	.	.	.	T	0.06371	0.0164	N	0.04508	-0.205	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19418	-1.0306	9	0.02654	T	1	0.0054	10.2124	0.43150	0.0:0.7844:0.2156:0.0	.	10;10	Q9BQF6-5;Q9BQF6	.;SENP7_HUMAN	R	10	ENSP00000377655:P10R;ENSP00000377654:P10R;ENSP00000313624:P10R	ENSP00000313624:P10R	P	-	2	0	SENP7	102714636	0.958000	0.32768	0.889000	0.34880	0.123000	0.20343	1.835000	0.39181	1.155000	0.42497	-0.165000	0.13383	CCA		0.617	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		6	600	0	0	0	1	0	6	600				
ZNF836	162962	broad.mit.edu	37	19	52659075	52659075	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr19:52659075C>A	ENST00000322146.8	-	5	2382	c.1861G>T	c.(1861-1863)Gac>Tac	p.D621Y	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.D621Y	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	621					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)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TTTCCACTGTCATTGAAGACC	0.423																																						ENST00000322146.8																			0				endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1861-1863)Gac>Tac		zinc finger protein 836							121.0	132.0	128.0					19																	52659075		2129	4272	6401	SO:0001583	missense	162962				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52659075C>A	BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.1861G>T	19.37:g.52659075C>A	ENSP00000325038:p.Asp621Tyr					CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.D621Y	p.D621Y	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN			5	2382	-			621						Missense_Mutation	SNP	ENST00000322146.8	37	c.1861G>T	CCDS46162.1	.	.	.	.	.	.	.	.	.	.	C	7.946	0.743917	0.15642	.	.	ENSG00000196267	ENST00000322146	T	0.55052	0.54	2.09	-4.17	0.03857	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25717	0.0626	N	0.04320	-0.23	0.09310	N	1	P	0.51147	0.942	P	0.51866	0.682	T	0.18967	-1.0320	9	0.02654	T	1	.	1.3539	0.02178	0.1848:0.3995:0.1578:0.2579	.	621	Q6ZNA1	ZN836_HUMAN	Y	621	ENSP00000325038:D621Y	ENSP00000325038:D621Y	D	-	1	0	ZNF836	57350887	0.000000	0.05858	0.000000	0.03702	0.391000	0.30476	-6.708000	0.00056	-1.108000	0.03000	-0.516000	0.04426	GAC		0.423	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657		5	341	1	0	0.000157383	1	0.00017161	5	341				
MC5R	4161	broad.mit.edu	37	18	13826098	13826098	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr18:13826098C>T	ENST00000324750.3	+	1	556	c.334C>T	c.(334-336)Cgc>Tgc	p.R112C	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	112					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						CGCCTTTGTGCGCCACATTGA	0.522																																						ENST00000324750.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						c.(334-336)Cgc>Tgc		melanocortin 5 receptor							152.0	124.0	133.0					18																	13826098		2203	4300	6503	SO:0001583	missense	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13826098C>T	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.334C>T	18.37:g.13826098C>T	ENSP00000318077:p.Arg112Cys						p.R112C	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN			1	556	+			112					B0YJ34|Q502V1	Missense_Mutation	SNP	ENST00000324750.3	37	c.334C>T	CCDS11868.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.704257	0.48412	.	.	ENSG00000176136	ENST00000324750	T	0.20738	2.05	4.9	3.1	0.35709	GPCR, rhodopsin-like superfamily (1);	0.103679	0.64402	D	0.000005	T	0.33789	0.0875	L	0.39898	1.24	0.58432	D	0.999999	D	0.89917	1.0	D	0.70716	0.97	T	0.02909	-1.1095	10	0.87932	D	0	.	10.9647	0.47406	0.1464:0.7129:0.1407:0.0	.	112	P33032	MC5R_HUMAN	C	112	ENSP00000318077:R112C	ENSP00000318077:R112C	R	+	1	0	MC5R	13816098	1.000000	0.71417	0.932000	0.37286	0.749000	0.42624	2.825000	0.48096	0.467000	0.27218	-0.384000	0.06662	CGC		0.522	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		65	124	0	0	0	1	0	65	124				
ICE2	79664	broad.mit.edu	37	15	60747571	60747571	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr15:60747571A>G	ENST00000261520.4	-	7	971	c.737T>C	c.(736-738)aTa>aCa	p.I246T	NARG2_ENST00000439632.1_Missense_Mutation_p.I109T|NARG2_ENST00000561114.1_Missense_Mutation_p.I246T	NM_024611.4	NP_078887.2														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						AATGGTAGCTATATCGTCCTT	0.333																																						ENST00000261520.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						c.(736-738)aTa>aCa		NMDA receptor regulated 2							199.0	181.0	187.0					15																	60747571		2202	4300	6502	SO:0001583	missense	79664					nucleus		g.chr15:60747571A>G																												ENST00000261520.4:c.737T>C	15.37:g.60747571A>G	ENSP00000261520:p.Ile246Thr					NARG2_ENST00000561114.1_Missense_Mutation_p.I246T|NARG2_ENST00000439632.1_Missense_Mutation_p.I109T	p.I246T	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN			7	971	-			246						Missense_Mutation	SNP	ENST00000261520.4	37	c.737T>C	CCDS10176.1	.	.	.	.	.	.	.	.	.	.	A	1.299	-0.605421	0.03717	.	.	ENSG00000128915	ENST00000261520;ENST00000439632	.	.	.	4.68	-1.88	0.07713	.	0.620823	0.16985	N	0.191552	T	0.16599	0.0399	N	0.16478	0.41	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.09377	0.0;0.004	T	0.12016	-1.0564	9	0.32370	T	0.25	-0.2145	4.7993	0.13289	0.6043:0.0:0.211:0.1848	.	109;246	G3V0H6;Q659A1	.;NARG2_HUMAN	T	246;109	.	ENSP00000261520:I246T	I	-	2	0	NARG2	58534863	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.076000	0.14712	-0.078000	0.12730	-0.313000	0.08912	ATA		0.333	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1			81	247	0	0	0	1	0	81	247				
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C	rs200733272|rs371950649	byFrequency	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692													g|||	17	0.00339457	0.003	0.0043	5008	,	,		11369	0.004		0.002	False		,,,				2504	0.0041					ENST00000270631.1																			2	Substitution - Missense(2)	p.L22V(2)	endometrium(2)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6						c.(64-66)Ctg>Gtg		parathyroid hormone 2			VAL/LEU	12,4376		0,12,2182	12.0	16.0	14.0		64	3.3	0.0	19		14	11,8561		0,11,4275	no	missense	PTH2	NM_178449.3	32	0,23,6457	CC,CG,GG		0.1283,0.2735,0.1775	possibly-damaging	22/101	49926533	23,12937	2194	4286	6480	SO:0001583	missense	113091				neuropeptide signaling pathway	extracellular region		g.chr19:49926533G>C	AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"""Endogenous ligands"""	30828	protein-coding gene	gene with protein product	"""tuberoinfundibular 39 residues"""	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.64C>G	19.37:g.49926533G>C	ENSP00000270631:p.Leu22Val						p.L22V	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)	1	165	-			22					Q96DJ4	Missense_Mutation	SNP	ENST00000270631.1	37	c.64C>G	CCDS12763.1	.	.	.	.	.	.	.	.	.	.	g	6.292	0.421904	0.11928	0.002735	0.001283	ENSG00000142538	ENST00000270631	.	.	.	4.3	3.26	0.37387	.	0.489236	0.15528	U	0.257640	T	0.26521	0.0648	L	0.27053	0.805	0.09310	N	1	P	0.46142	0.873	B	0.39419	0.299	T	0.08066	-1.0740	9	0.87932	D	0	-7.2733	12.3672	0.55234	0.0:0.1717:0.8283:0.0	.	22	Q96A98	TIP39_HUMAN	V	22	.	ENSP00000270631:L22V	L	-	1	2	PTH2	54618345	0.088000	0.21588	0.012000	0.15200	0.011000	0.07611	-0.504000	0.06375	0.947000	0.37659	-0.370000	0.07254	CTG		0.692	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465366.1	NM_178449		5	78	0	0	0	1	0	5	78				
ATP13A2	23400	broad.mit.edu	37	1	17322564	17322564	+	Silent	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:17322564G>A	ENST00000326735.8	-	15	1482	c.1449C>T	c.(1447-1449)taC>taT	p.Y483Y	ATP13A2_ENST00000341676.5_Silent_p.Y478Y|ATP13A2_ENST00000452699.1_Silent_p.Y478Y|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000502860.1_5'UTR			Q9NQ11	AT132_HUMAN	ATPase type 13A2	483					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GGCTCTGGGCGTAGAGCGTGC	0.622																																						ENST00000452699.1																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1432-1434)taC>taT		ATPase type 13A2							97.0	102.0	100.0					1																	17322564		2203	4300	6503	SO:0001819	synonymous_variant	23400				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr1:17322564G>A	AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.1449C>T	1.37:g.17322564G>A						ATP13A2_ENST00000502860.1_5'UTR|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Silent_p.Y478Y|ATP13A2_ENST00000326735.8_Silent_p.Y483Y	p.Y478Y	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	15	1623	-		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	483					O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Silent	SNP	ENST00000326735.8	37	c.1434C>T	CCDS175.1																																																																																				0.622	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089		5	511	0	0	0	1	0	5	511				
CORO2A	7464	broad.mit.edu	37	9	100895363	100895363	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr9:100895363C>T	ENST00000343933.5	-	5	862	c.605G>A	c.(604-606)cGc>cAc	p.R202H	CORO2A_ENST00000375077.4_Missense_Mutation_p.R202H	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	202					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	actin cytoskeleton (GO:0015629)|transcriptional repressor complex (GO:0017053)	actin filament binding (GO:0051015)			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				CCGAATCTTGCGGTCTTTGCA	0.582																																						ENST00000343933.5																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26						c.(604-606)cGc>cAc		coronin, actin binding protein, 2A							195.0	163.0	174.0					9																	100895363		2203	4300	6503	SO:0001583	missense	7464				actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding	g.chr9:100895363C>T	U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"""Coronins"", ""WD repeat domain containing"""	2255	protein-coding gene	gene with protein product	"""coronin 2A"", ""coronin-like protein B"", ""WD protein IR10"", ""WD-repeat protein 2"""	602159	"""coronin, actin-binding protein, 2A"""			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.605G>A	9.37:g.100895363C>T	ENSP00000343746:p.Arg202His					CORO2A_ENST00000375077.4_Missense_Mutation_p.R202H	p.R202H	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN			5	862	-		Acute lymphoblastic leukemia(62;0.0559)	202					Q5TBR5|Q92829|Q9BWS5	Missense_Mutation	SNP	ENST00000343933.5	37	c.605G>A	CCDS6735.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.660467	0.88154	.	.	ENSG00000106789	ENST00000343933;ENST00000375077	T;T	0.61040	0.14;0.14	4.94	4.05	0.47172	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.095153	0.64402	D	0.000002	T	0.67822	0.2934	L	0.47190	1.495	0.45490	D	0.998457	D	0.89917	1.0	D	0.74023	0.982	T	0.70626	-0.4820	10	0.87932	D	0	-18.4897	12.2613	0.54652	0.0:0.9162:0.0:0.0838	.	202	Q92828	COR2A_HUMAN	H	202	ENSP00000343746:R202H;ENSP00000364218:R202H	ENSP00000343746:R202H	R	-	2	0	CORO2A	99935184	0.070000	0.21116	1.000000	0.80357	0.994000	0.84299	0.551000	0.23361	1.314000	0.45095	0.655000	0.94253	CGC		0.582	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053357.1	NM_003389		5	411	0	0	0	1	0	5	411				
VWA3B	200403	broad.mit.edu	37	2	98914394	98914394	+	Missense_Mutation	SNP	G	G	A	rs146321928		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr2:98914394G>A	ENST00000477737.1	+	24	3386	c.3182G>A	c.(3181-3183)cGc>cAc	p.R1061H	VWA3B_ENST00000490947.2_3'UTR|AC092675.1_ENST00000401293.1_RNA	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1061										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGTGTGAGCCGCACCCAAGCA	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		19816	0.0		0.001	False		,,,				2504	0.0					ENST00000477737.1																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(3181-3183)cGc>cAc		von Willebrand factor A domain containing 3B							86.0	90.0	88.0					2																	98914394		2014	4166	6180	SO:0001583	missense	200403							g.chr2:98914394G>A	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.3182G>A	2.37:g.98914394G>A	ENSP00000417955:p.Arg1061His					VWA3B_ENST00000490947.2_3'UTR	p.R1061H	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			24	3386	+			1061					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.3182G>A	CCDS42718.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	7.890	0.732062	0.15507	.	.	ENSG00000168658	ENST00000477737;ENST00000358269	T	0.23147	1.92	4.93	-0.398	0.12418	.	750.824000	0.00166	N	0.000000	T	0.15782	0.0380	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.001;0.002	T	0.32455	-0.9906	10	0.56958	D	0.05	.	8.6816	0.34212	0.2741:0.4468:0.279:0.0	.	453;1061	Q502W6-5;Q502W6	.;VWA3B_HUMAN	H	1061;183	ENSP00000417955:R1061H	ENSP00000351009:R183H	R	+	2	0	VWA3B	98280826	0.000000	0.05858	0.093000	0.20910	0.314000	0.28054	0.066000	0.14489	0.036000	0.15547	-0.151000	0.13558	CGC		0.532	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		5	237	0	0	0	1	0	5	237				
SBF1	6305	broad.mit.edu	37	22	50900742	50900742	+	Missense_Mutation	SNP	C	C	T	rs200624784		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr22:50900742C>T	ENST00000390679.3	-	19	2472	c.2288G>A	c.(2287-2289)cGc>cAc	p.R763H	SBF1_ENST00000380817.3_Missense_Mutation_p.R763H|SBF1_ENST00000348911.6_Missense_Mutation_p.R764H			O95248	MTMR5_HUMAN	SET binding factor 1	763					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GTAGCTCATGCGGTTGGCATA	0.647																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(2287-2289)cGc>cAc		SET binding factor 1		C	HIS/ARG	0,4308		0,0,2154	58.0	65.0	63.0		2288	4.5	1.0	22		63	1,8493		0,1,4246	yes	missense	SBF1	NM_002972.2	29	0,1,6400	TT,TC,CC		0.0118,0.0,0.0078	probably-damaging	763/1894	50900742	1,12801	2154	4247	6401	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50900742C>T	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.2288G>A	22.37:g.50900742C>T	ENSP00000375097:p.Arg763His					SBF1_ENST00000348911.6_Missense_Mutation_p.R764H|SBF1_ENST00000390679.3_Missense_Mutation_p.R763H	p.R763H	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	19	2471	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	763					A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.2288G>A		.	.	.	.	.	.	.	.	.	.	C	24.2	4.503927	0.85176	0.0	1.18E-4	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	T;T;T	0.49432	0.78;0.78;0.78	4.52	4.52	0.55395	.	0.933584	0.09027	N	0.859341	T	0.69593	0.3128	M	0.72118	2.19	0.58432	D	0.999999	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.66716	0.946;0.938;0.938	T	0.66516	-0.5904	10	0.59425	D	0.04	.	17.0388	0.86483	0.0:1.0:0.0:0.0	.	763;764;763	O95248;G5E933;O95248-4	MTMR5_HUMAN;.;.	H	763;764;774;773;763	ENSP00000370196:R763H;ENSP00000252027:R764H;ENSP00000375097:R763H	ENSP00000336522:R773H	R	-	2	0	SBF1	49247608	0.984000	0.35163	1.000000	0.80357	0.965000	0.64279	1.018000	0.30002	2.366000	0.80165	0.655000	0.94253	CGC		0.647	SBF1-201	KNOWN	basic	protein_coding	protein_coding				5	358	0	0	0	1	0	5	358				
HMGN2P46	283651	broad.mit.edu	37	15	45848224	45848224	+	lincRNA	SNP	G	G	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr15:45848224G>T	ENST00000557965.1	+	0	0				HMGN2P46_ENST00000409454.1_RNA																							TGCAGATTTTGTTTAGCTTTT	0.318																																						ENST00000409454.1																			0																																																			0							g.chr15:45848224G>T																													15.37:g.45848224G>T														0	1219	+									RNA	SNP	ENST00000557965.1	37																																																																																						0.318	RP11-96O20.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000416553.1			10	66	1	0	0.160694	1	0.167643	10	66				
DSG2	1829	broad.mit.edu	37	18	29111024	29111024	+	Silent	SNP	G	G	T	rs372598337		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr18:29111024G>T	ENST00000261590.8	+	9	1298	c.1089G>T	c.(1087-1089)tcG>tcT	p.S363S		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	363	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TTCACAAGTCGATTAGGAGTA	0.363																																						ENST00000261590.8																			0				breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49						c.(1087-1089)tcG>tcT		desmoglein 2							135.0	123.0	127.0					18																	29111024		1848	4091	5939	SO:0001819	synonymous_variant	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29111024G>T	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.1089G>T	18.37:g.29111024G>T							p.S363S	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		9	1298	+			363			Cadherin 3.		Q4KKU6	Silent	SNP	ENST00000261590.8	37	c.1089G>T	CCDS42423.1																																																																																				0.363	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		4	228	1	0	1	1	1	4	228				
ADAMTS17	170691	broad.mit.edu	37	15	100636613	100636613	+	Silent	SNP	G	G	A	rs141443664		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr15:100636613G>A	ENST00000268070.4	-	15	2190	c.2085C>T	c.(2083-2085)gaC>gaT	p.D695D		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	695	Cys-rich.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		AGGTCTTGCCGTCCCCGCTGC	0.592																																						ENST00000268070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50						c.(2083-2085)gaC>gaT		ADAM metallopeptidase with thrombospondin type 1 motif, 17		G		0,4406		0,0,2203	94.0	101.0	99.0		2085	-3.6	0.9	15	dbSNP_134	99	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADAMTS17	NM_139057.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		695/1096	100636613	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100636613G>A	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2085C>T	15.37:g.100636613G>A							p.D695D	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	15	2190	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		695			Cys-rich.		Q2I7G4|Q6ZN75	Silent	SNP	ENST00000268070.4	37	c.2085C>T	CCDS10383.1																																																																																				0.592	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		6	539	0	0	0	1	0	6	539				
HAP1	9001	broad.mit.edu	37	17	39881075	39881075	+	Missense_Mutation	SNP	C	C	T	rs537536210		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr17:39881075C>T	ENST00000310778.5	-	12	1903	c.1894G>A	c.(1894-1896)Gcc>Acc	p.A632T	HAP1_ENST00000347901.4_Missense_Mutation_p.A580T|HAP1_ENST00000393939.2_Missense_Mutation_p.A555T|JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Missense_Mutation_p.A563T			P54257	HAP1_HUMAN	huntingtin-associated protein 1	632					anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TGCCAGTTGGCCAGCTGCTGG	0.627													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15235	0.0		0.0	False		,,,				2504	0.0					ENST00000393939.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21						c.(1663-1665)Gcc>Acc		huntingtin-associated protein 1							122.0	123.0	122.0					17																	39881075		2203	4300	6503	SO:0001583	missense	9001				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding	g.chr17:39881075C>T	AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"""neuroan 1"""	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.1894G>A	17.37:g.39881075C>T	ENSP00000309392:p.Ala632Thr					HAP1_ENST00000310778.5_Missense_Mutation_p.A632T|JUP_ENST00000540235.1_Intron|HAP1_ENST00000347901.4_Missense_Mutation_p.A580T|HAP1_ENST00000341193.5_Missense_Mutation_p.A563T	p.A555T			P54257	HAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		10	1672	-		Breast(137;0.000162)	632			Glu-rich.		A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Missense_Mutation	SNP	ENST00000310778.5	37	c.1663G>A		.	.	.	.	.	.	.	.	.	.	C	13.04	2.117571	0.37339	.	.	ENSG00000173805	ENST00000458656;ENST00000442364;ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T;T;T	0.44881	1.32;0.91;3.15;3.41;3.27;3.16	4.14	2.06	0.26882	.	0.560677	0.15052	N	0.283242	T	0.36138	0.0956	L	0.27053	0.805	0.09310	N	0.99999	P;D;D;D	0.56968	0.872;0.965;0.974;0.978	P;P;P;P	0.54270	0.578;0.546;0.747;0.563	T	0.10064	-1.0646	10	0.32370	T	0.25	-11.1038	4.8636	0.13596	0.219:0.6683:0.0:0.1127	.	555;563;580;632	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	T	87;49;555;632;580;563	ENSP00000404640:A87T;ENSP00000388981:A49T;ENSP00000377513:A555T;ENSP00000309392:A632T;ENSP00000334002:A580T;ENSP00000343170:A563T	ENSP00000309392:A632T	A	-	1	0	HAP1	37134601	0.215000	0.23574	0.948000	0.38648	0.014000	0.08584	-0.225000	0.09151	0.459000	0.27016	-0.350000	0.07774	GCC		0.627	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949		7	633	0	0	0	1	0	7	633				
NFE2L3	9603	broad.mit.edu	37	7	26225102	26225102	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr7:26225102G>A	ENST00000056233.3	+	4	2043	c.1784G>A	c.(1783-1785)tGt>tAt	p.C595Y		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	595	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.C595Y(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GCGCAGAACTGTCGTAAACGC	0.368																																						ENST00000056233.3																			1	Substitution - Missense(1)	p.C595Y(1)	kidney(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						c.(1783-1785)tGt>tAt		nuclear factor, erythroid 2-like 3							61.0	58.0	59.0					7																	26225102		2203	4299	6502	SO:0001583	missense	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26225102G>A	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1784G>A	7.37:g.26225102G>A	ENSP00000056233:p.Cys595Tyr						p.C595Y	NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN			4	2043	+			595					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	ENST00000056233.3	37	c.1784G>A	CCDS5396.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483904	0.84854	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	D	0.92858	-3.12	5.71	5.71	0.89125	Basic-leucine zipper (bZIP) transcription factor (3);Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	D	0.97213	0.9089	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97705	1.0187	10	0.87932	D	0	-5.5783	19.4639	0.94931	0.0:0.0:1.0:0.0	.	595	Q9Y4A8	NF2L3_HUMAN	Y	595;300	ENSP00000056233:C595Y	ENSP00000056233:C595Y	C	+	2	0	NFE2L3	26191627	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.984000	0.88150	2.703000	0.92315	0.591000	0.81541	TGT		0.368	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			4	126	0	0	0	1	0	4	126				
TSC2	7249	broad.mit.edu	37	16	2136297	2136297	+	Missense_Mutation	SNP	C	C	T	rs373635516|rs137854039		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr16:2136297C>T	ENST00000219476.3	+	37	5396	c.4766C>T	c.(4765-4767)cCg>cTg	p.P1589L	TSC2_ENST00000401874.2_Missense_Mutation_p.P1522L|TSC2_ENST00000568454.1_Missense_Mutation_p.P1533L|TSC2_ENST00000439673.2_Missense_Mutation_p.P1486L|TSC2_ENST00000382538.6_Missense_Mutation_p.P1474L|TSC2_ENST00000353929.4_Missense_Mutation_p.P1546L|TSC2_ENST00000350773.4_Missense_Mutation_p.P1566L	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1589	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GACTGCCAGCCGGACAAGGTG	0.617			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"""D, Mis, N, F, S"""	tuberous sclerosis 2 gene			"""E, O"""		"""hamartoma, renal cell"""			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(4765-4767)cCg>cTg		tuberous sclerosis 2		C	LEU/PRO,LEU/PRO,LEU/PRO	0,4396		0,0,2198	116.0	92.0	100.0		4766,4565,4697	4.5	1.0	16		100	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	TSC2	NM_000548.3,NM_001077183.1,NM_001114382.1	98,98,98	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	1589/1808,1522/1741,1566/1785	2136297	1,12995	2198	4300	6498	SO:0001583	missense	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2136297C>T	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.4766C>T	16.37:g.2136297C>T	ENSP00000219476:p.Pro1589Leu					TSC2_ENST00000568454.1_Missense_Mutation_p.P1533L|TSC2_ENST00000401874.2_Missense_Mutation_p.P1522L|TSC2_ENST00000353929.4_Missense_Mutation_p.P1546L|TSC2_ENST00000382538.6_Missense_Mutation_p.P1474L|TSC2_ENST00000350773.4_Missense_Mutation_p.P1566L|TSC2_ENST00000439673.2_Missense_Mutation_p.P1486L	p.P1589L	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			37	5396	+		Hepatocellular(780;0.0202)	1589			Rap-GAP.		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.4766C>T	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683119	0.88542	0.0	1.16E-4	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.93811	-3.29;-3.29;-3.29;-3.29;-3.29	4.47	4.47	0.54385	Rap/ran-GAP (2);	0.062472	0.64402	D	0.000004	D	0.95114	0.8417	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.995;1.0;1.0;1.0	D;D;D;P;D;D;D	0.91635	0.999;0.998;0.999;0.842;0.999;0.999;0.999	D	0.92958	0.6386	10	0.15499	T	0.54	-22.8344	17.3319	0.87267	0.0:1.0:0.0:0.0	.	1474;1486;1566;364;1545;1522;1589	B4DIL8;P49815-6;P49815-4;B3KSR9;P49815-3;P49815-5;P49815	.;.;.;.;.;.;TSC2_HUMAN	L	1589;1523;1546;1486;1474;1566	ENSP00000219476:P1589L;ENSP00000248099:P1546L;ENSP00000399232:P1486L;ENSP00000371978:P1474L;ENSP00000344383:P1566L	ENSP00000219476:P1589L	P	+	2	0	TSC2	2076298	1.000000	0.71417	0.952000	0.39060	0.768000	0.43524	7.588000	0.82629	2.319000	0.78375	0.561000	0.74099	CCG		0.617	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		66	104	0	0	0	1	0	66	104				
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr11:3427765G>C	ENST00000529482.1	+	0	882									tumor suppressing subtransferable candidate 2 pseudogene																		CACACGTCCTGCAGTGGCCTG	0.602																																						ENST00000529482.1																			0																																																			0							g.chr11:3427765G>C			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.3427765G>C														0	882	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.602	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			5	196	0	0	0	1	0	5	196				
FAM86C2P	645332	broad.mit.edu	37	11	67560517	67560517	+	RNA	SNP	T	T	C			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr11:67560517T>C	ENST00000528089.1	-	0	1233							A6NEL3	F86C2_HUMAN	family with sequence similarity 86, member C2, pseudogene																		GATGTCTTATTAGAGGGCAGT	0.418																																						ENST00000528089.1																			0																																																			0							g.chr11:67560517T>C			11q13.2	2011-07-07			ENSG00000160172	ENSG00000160172			42392	pseudogene	pseudogene							Standard	NR_024249		Approved		uc001omt.4	A6NEL3	OTTHUMG00000167222		11.37:g.67560517T>C														0	1233	-									RNA	SNP	ENST00000528089.1	37																																																																																						0.418	FAM86C2P-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393796.1			3	15	0	0	0	1	0	3	15				
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Intron	SNP	C	C	T	rs568909748	byFrequency	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr17:15441469C>T	ENST00000225576.3	-	5	558				TVP23C_ENST00000584811.1_Splice_Site|TVP23C_ENST00000583206.1_5'Flank|TVP23C_ENST00000438826.3_Splice_Site|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000519970.1_Intron	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							integral component of membrane (GO:0016021)											TCCAGTGTTCCGCAAAAGACA	0.393													c|||	3	0.000599042	0.0015	0.0	5008	,	,		17476	0.001		0.0	False		,,,				2504	0.0					ENST00000584811.1																			0											c.e7-2		trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																																				SO:0001627	intron_variant	201158							g.chr17:15441469C>T	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.462+7629G>A	17.37:g.15441469C>T						TVP23C_ENST00000225576.3_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron								7	1815	-								Q3LIC7	Splice_Site	SNP	ENST00000225576.3	37		CCDS11170.1	.	.	.	.	.	.	.	.	.	.	c	13.58	2.280351	0.40294	.	.	ENSG00000175106	ENST00000438826	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0583	0.25111	0.0:0.1033:0.0:0.8967	.	.	.	.	.	-1	.	.	.	-	.	.	FAM18B2	15382194	1.000000	0.71417	0.996000	0.52242	0.698000	0.40448	1.919000	0.40015	0.852000	0.35287	-0.352000	0.07741	.		0.393	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		6	173	0	0	0	1	0	6	173				
CDKN2A	1029	broad.mit.edu	37	9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	rs121913387		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1459	Whole gene deletion(1316)|Substitution - Nonsense(78)|Unknown(45)|Deletion - Frameshift(10)|Deletion - In frame(4)|Substitution - Missense(3)|Insertion - Frameshift(1)|Substitution - coding silent(1)|Complex - compound substitution(1)	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)	haematopoietic_and_lymphoid_tissue(284)|skin(201)|central_nervous_system(167)|lung(154)|urinary_tract(94)|upper_aerodigestive_tract(78)|bone(74)|oesophagus(65)|soft_tissue(58)|pleura(51)|ovary(38)|pancreas(37)|kidney(32)|breast(32)|stomach(14)|thyroid(13)|NS(12)|biliary_tract(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|endometrium(3)|vulva(2)|prostate(2)|cervix(1)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM940227	CDKN2A	M	rs121913387	c.(172-174)Cga>Tga		cyclin-dependent kinase inhibitor 2A							7.0	9.0	8.0					9																	21971186		2034	4092	6126	SO:0001587	stop_gained	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971186G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.172C>T	9.37:g.21971186G>A	ENSP00000307101:p.Arg58*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*	p.R58*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	442	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	58		R -> Q (in dbSNP:rs36204273).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.172C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.1|28.1	4.893482|4.893482	0.91889|0.91889	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|.	0.75367|.	-0.93;-0.89|.	5.79|5.79	2.71|2.71	0.32032|0.32032	.|.	0.409080|.	0.18162|.	N|.	0.149742|.	T|.	0.29288|.	0.0729|.	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	P|.	0.44006|.	0.824|.	B|.	0.33121|.	0.158|.	T|.	0.21381|.	-1.0247|.	10|.	0.72032|0.13470	D|T	0.01|0.59	-3.0019|-3.0019	9.6681|9.6681	0.39996|0.39996	0.0:0.1288:0.474:0.3972|0.0:0.1288:0.474:0.3972	.|.	113|.	Q8N726|.	CD2A2_HUMAN|.	L|X	113;72|58	ENSP00000355153:P113L;ENSP00000432664:P72L|.	ENSP00000355153:P113L|ENSP00000307101:R58X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961186|21961186	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.277000|0.277000	0.26821|0.26821	0.096000|0.096000	0.15147|0.15147	0.738000|0.738000	0.32606|0.32606	0.555000|0.555000	0.69702|0.69702	CCG|CGA		0.677	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		18	58	0	0	0	1	0	18	58				
CDH24	64403	broad.mit.edu	37	14	23517662	23517662	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr14:23517662G>A	ENST00000267383.5	-	12	2079	c.1987C>T	c.(1987-1989)Cgg>Tgg	p.R663W	CDH24_ENST00000554034.1_Missense_Mutation_p.R625W|CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000397359.3_Missense_Mutation_p.R663W|CDH24_ENST00000487137.2_Missense_Mutation_p.R625W			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	663					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		TTCTGCCGCCGCAGGGCCACG	0.672																																						ENST00000397359.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(1987-1989)Cgg>Tgg		cadherin 24, type 2							52.0	56.0	55.0					14																	23517662		2202	4295	6497	SO:0001583	missense	64403				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding	g.chr14:23517662G>A	AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.1987C>T	14.37:g.23517662G>A	ENSP00000267383:p.Arg663Trp					CDH24_ENST00000554034.1_Missense_Mutation_p.R625W|CDH24_ENST00000487137.2_Missense_Mutation_p.R625W|CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000267383.5_Missense_Mutation_p.R663W	p.R663W	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	13	2246	-	all_cancers(95;3.3e-05)		663					D3DS44|Q86UP1|Q9NT84	Missense_Mutation	SNP	ENST00000267383.5	37	c.1987C>T	CCDS9585.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036370	0.54896	.	.	ENSG00000139880	ENST00000397359;ENST00000487137;ENST00000422751;ENST00000554034;ENST00000267383	D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16	4.06	3.13	0.36017	Cadherin, cytoplasmic domain (1);	0.000000	0.64402	D	0.000001	D	0.93759	0.8005	M	0.90309	3.105	0.51767	D	0.999935	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93914	0.7199	10	0.87932	D	0	.	11.5441	0.50683	0.0:0.0:0.8126:0.1874	.	625;663	Q86UP0-2;Q86UP0	.;CAD24_HUMAN	W	663;625;158;625;663	ENSP00000380517:R663W;ENSP00000434821:R625W;ENSP00000452493:R625W;ENSP00000267383:R663W	ENSP00000267383:R663W	R	-	1	2	CDH24	22587502	0.999000	0.42202	1.000000	0.80357	0.657000	0.38888	0.679000	0.25291	0.863000	0.35553	0.591000	0.81541	CGG		0.672	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478		6	415	0	0	0	1	0	6	415				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		9	158	0	0	0	1	0	9	158				
MUC21	394263	broad.mit.edu	37	6	30954947	30954947	+	Missense_Mutation	SNP	A	A	C	rs569675461		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr6:30954947A>C	ENST00000376296.3	+	2	1236	c.995A>C	c.(994-996)aAc>aCc	p.N332T	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	332	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ACAGCCACCAACTCTGAGTCC	0.622													a|||	1	0.000199681	0.0	0.0	5008	,	,		25093	0.001		0.0	False		,,,				2504	0.0					ENST00000376296.3																			0				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(994-996)aAc>aCc		mucin 21, cell surface associated							141.0	141.0	141.0					6																	30954947		2202	4297	6499	SO:0001583	missense	394263					integral to membrane|plasma membrane		g.chr6:30954947A>C	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.995A>C	6.37:g.30954947A>C	ENSP00000365473:p.Asn332Thr					MUC21_ENST00000486149.2_5'UTR	p.N332T	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN			2	1236	+			332			28 X 15 AA approximate tandem repeats.|Ser-rich.		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	c.995A>C	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	a	0.003	-2.417409	0.00188	.	.	ENSG00000204544	ENST00000376296	T	0.02140	4.43	4.68	-9.37	0.00626	.	.	.	.	.	T	0.00412	0.0013	L	0.29908	0.895	0.09310	N	1	B	0.14012	0.009	B	0.16289	0.015	T	0.35919	-0.9769	8	.	.	.	1.8552	8.0491	0.30566	0.6306:0.2044:0.0965:0.0685	.	332	Q5SSG8	MUC21_HUMAN	T	332	ENSP00000365473:N332T	.	N	+	2	0	MUC21	31062926	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.968000	0.00088	-5.357000	0.00016	-2.057000	0.00402	AAC		0.622	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		7	797	0	0	0	1	0	7	797				
ATXN2L	11273	broad.mit.edu	37	16	28844418	28844418	+	Silent	SNP	T	T	C			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr16:28844418T>C	ENST00000336783.4	+	14	1865	c.1698T>C	c.(1696-1698)ccT>ccC	p.P566P	ATXN2L_ENST00000325215.6_Silent_p.P566P|ATXN2L_ENST00000340394.8_Silent_p.P566P|ATXN2L_ENST00000382686.4_Silent_p.P566P|ATXN2L_ENST00000395547.2_Silent_p.P566P|ATXN2L_ENST00000564304.1_Silent_p.P572P|ATXN2L_ENST00000570200.1_Silent_p.P566P|RP11-24N18.1_ENST00000563565.1_RNA	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	566					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GCCTGGATCCTTTTCCTCCCC	0.532																																						ENST00000336783.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(1696-1698)ccT>ccC		ataxin 2-like							121.0	126.0	125.0					16																	28844418		2197	4300	6497	SO:0001819	synonymous_variant	11273					membrane		g.chr16:28844418T>C		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.1698T>C	16.37:g.28844418T>C						RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000395547.2_Silent_p.P566P|ATXN2L_ENST00000382686.4_Silent_p.P566P|ATXN2L_ENST00000340394.8_Silent_p.P566P|ATXN2L_ENST00000325215.6_Silent_p.P566P|ATXN2L_ENST00000564304.1_Silent_p.P572P|ATXN2L_ENST00000570200.1_Silent_p.P566P	p.P566P	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN			14	1865	+			566					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Silent	SNP	ENST00000336783.4	37	c.1698T>C	CCDS10641.1																																																																																				0.532	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		5	584	0	0	0	1	0	5	584				
TBC1D1	23216	broad.mit.edu	37	4	38022213	38022213	+	Splice_Site	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr4:38022213G>A	ENST00000261439.4	+	5	1329	c.974G>A	c.(973-975)gGc>gAc	p.G325D	TBC1D1_ENST00000508802.1_Splice_Site_p.G325D	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	325	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CTTTGGCAGGGCATCAGACAC	0.458																																						ENST00000261439.4																			0				NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						c.e5-1		TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1							270.0	259.0	263.0					4																	38022213		2203	4300	6503	SO:0001630	splice_region_variant	23216					nucleus	Rab GTPase activator activity	g.chr4:38022213G>A	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.973-1G>A	4.37:g.38022213G>A						TBC1D1_ENST00000508802.1_Splice_Site_p.G325_splice	p.G325_splice	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN			5	1329	+			325			PID.		B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Splice_Site	SNP	ENST00000261439.4	37	c.972_splice	CCDS33972.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905016	0.92035	.	.	ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000446803	T;T;T	0.14266	2.52;2.52;2.52	5.48	5.48	0.80851	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.51477	D	0.000095	T	0.36054	0.0953	L	0.54908	1.71	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.03555	-1.1025	10	0.87932	D	0	-20.7573	19.3503	0.94381	0.0:0.0:1.0:0.0	.	325;325;325	B9A6J6;E9PGH8;Q86TI0	.;.;TBCD1_HUMAN	D	325;325;196	ENSP00000423651:G325D;ENSP00000261439:G325D;ENSP00000396877:G196D	ENSP00000261439:G325D	G	+	2	0	TBC1D1	37698608	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	9.730000	0.98797	2.576000	0.86940	0.467000	0.42956	GGC		0.458	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173	Missense_Mutation	6	697	0	0	0	1	0	6	697				
MUC7	4589	broad.mit.edu	37	4	71347185	71347185	+	Missense_Mutation	SNP	T	T	C	rs79807294	byFrequency	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr4:71347185T>C	ENST00000304887.5	+	3	914	c.724T>C	c.(724-726)Tct>Cct	p.S242P	MUC7_ENST00000413702.1_Missense_Mutation_p.S242P|MUC7_ENST00000456088.1_Missense_Mutation_p.S242P	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	242	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.592																																						ENST00000413702.1																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(724-726)Tct>Cct		mucin 7, secreted							422.0	341.0	368.0					4																	71347185		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71347185T>C	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.724T>C	4.37:g.71347185T>C	ENSP00000302021:p.Ser242Pro					MUC7_ENST00000304887.5_Missense_Mutation_p.S242P|MUC7_ENST00000456088.1_Missense_Mutation_p.S242P	p.S242P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	1012	+			242			Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.724T>C	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	T	9.595	1.127046	0.20959	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.52754	0.65;0.65;0.65	1.88	-3.76	0.04359	.	.	.	.	.	T	0.26048	0.0635	N	0.24115	0.695	0.09310	N	1	B	0.24823	0.112	B	0.17722	0.019	T	0.17837	-1.0356	8	.	.	.	0.6471	6.6904	0.23167	0.7198:0.0:0.0:0.2802	.	242	Q8TAX7	MUC7_HUMAN	P	242	ENSP00000407422:S242P;ENSP00000400585:S242P;ENSP00000302021:S242P	.	S	+	1	0	MUC7	71381774	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.151000	0.01289	-0.798000	0.04444	-0.438000	0.05819	TCT		0.592	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		7	689	0	0	0	1	0	7	689				
PIK3CB	5291	broad.mit.edu	37	3	138382857	138382857	+	Missense_Mutation	SNP	C	C	T	rs142933486	byFrequency	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr3:138382857C>T	ENST00000477593.1	-	20	2760	c.2687G>A	c.(2686-2688)cGa>cAa	p.R896Q	PIK3CB_ENST00000544716.1_Missense_Mutation_p.R347Q|PIK3CB_ENST00000289153.2_Missense_Mutation_p.R896Q			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	896	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	CTCAATGGCTCGGTCCAGGTC	0.448																																						ENST00000477593.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(2686-2688)cGa>cAa		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta							80.0	71.0	74.0					3																	138382857		2203	4300	6503	SO:0001583	missense	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138382857C>T		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.2687G>A	3.37:g.138382857C>T	ENSP00000418143:p.Arg896Gln					PIK3CB_ENST00000289153.2_Missense_Mutation_p.R896Q|PIK3CB_ENST00000544716.1_Missense_Mutation_p.R347Q	p.R896Q			P42338	PK3CB_HUMAN			20	2760	-			896			PI3K/PI4K.		D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	c.2687G>A	CCDS3104.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.04|17.04	3.286996|3.286996	0.59867|0.59867	.|.	.|.	ENSG00000051382|ENSG00000051382	ENST00000493568|ENST00000477593;ENST00000544716;ENST00000289153	.|T;T;T	.|0.76060	.|-0.99;-0.99;-0.99	5.63|5.63	5.63|5.63	0.86233|0.86233	.|Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.63640|0.63640	0.2528|0.2528	L|L	0.31207|0.31207	0.915|0.915	0.58432|0.58432	D|D	0.999998|0.999998	.|B;B;B	.|0.33379	.|0.269;0.178;0.41	.|B;B;B	.|0.24541	.|0.041;0.044;0.054	T|T	0.60662|0.60662	-0.7219|-0.7219	5|10	.|0.28530	.|T	.|0.3	-11.8261|-11.8261	20.0442|20.0442	0.97604|0.97604	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|896;483;347	.|P42338;B4DZI3;Q68DL0	.|PK3CB_HUMAN;.;.	K|Q	528|896;347;896	.|ENSP00000418143:R896Q;ENSP00000438259:R347Q;ENSP00000289153:R896Q	.|ENSP00000289153:R896Q	E|R	-|-	1|2	0|0	PIK3CB|PIK3CB	139865547|139865547	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.138000|3.138000	0.50570|0.50570	2.814000|2.814000	0.96858|0.96858	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.448	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			28	99	0	0	0	1	0	28	99				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		7	234	0	0	0	1	0	7	234				
CCR10	2826	broad.mit.edu	37	17	40832279	40832279	+	Silent	SNP	G	G	C			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr17:40832279G>C	ENST00000332438.4	-	2	400	c.381C>G	c.(379-381)ggC>ggG	p.G127G	CTD-3193K9.3_ENST00000592440.1_RNA|CNTNAP1_ENST00000264638.4_5'Flank|CCR10_ENST00000591765.1_5'UTR|CTD-3193K9.4_ENST00000593139.1_RNA	NM_016602.2	NP_057686.2	P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	127					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GGAAGAGGAAGCCGGCGTGGA	0.706																																						ENST00000332438.4																			0				lung(1)|ovary(1)|skin(1)	3						c.(379-381)ggC>ggG		chemokine (C-C motif) receptor 10							10.0	14.0	13.0					17																	40832279		2147	4236	6383	SO:0001819	synonymous_variant	2826					integral to plasma membrane		g.chr17:40832279G>C	AF215981	CCDS11435.1	17q21.1-q21.3	2012-08-08	2004-11-12	2004-11-12	ENSG00000184451	ENSG00000184451		"""GPCR / Class A : Chemokine receptors : C-C motif"""	4474	protein-coding gene	gene with protein product		600240	"""G protein-coupled receptor 2"""	GPR2		7851889	Standard	NM_016602		Approved		uc002iax.4	P46092	OTTHUMG00000132301	ENST00000332438.4:c.381C>G	17.37:g.40832279G>C						CTD-3193K9.4_ENST00000593139.1_RNA|CCR10_ENST00000591765.1_5'UTR	p.G127G	NM_016602.2	NP_057686.2	P46092	CCR10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	2	400	-		Breast(137;0.000153)	127					Q4V749|Q6T7X2|Q9NZG2	Silent	SNP	ENST00000332438.4	37	c.381C>G	CCDS11435.1																																																																																				0.706	CCR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255406.1	NM_016602		5	22	0	0	0	1	0	5	22				
ZCCHC7	84186	broad.mit.edu	37	9	37349387	37349387	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr9:37349387C>T	ENST00000336755.5	+	7	1127	c.1021C>T	c.(1021-1023)Cct>Tct	p.P341S	ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_Missense_Mutation_p.P51S	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	341						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		GCCGAAGACCCCTTCAAGACC	0.418																																						ENST00000336755.5																			0				central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30						c.(1021-1023)Cct>Tct		zinc finger, CCHC domain containing 7							159.0	136.0	144.0					9																	37349387		2203	4300	6503	SO:0001583	missense	84186						nucleic acid binding|zinc ion binding	g.chr9:37349387C>T	AK026264	CCDS6608.2	9p13.1	2008-05-02			ENSG00000147905	ENSG00000147905		"""Zinc fingers, CCHC domain containing"""	26209	protein-coding gene	gene with protein product							Standard	NM_032226		Approved	FLJ22611, AIR1	uc003zzq.3	Q8N3Z6	OTTHUMG00000019915	ENST00000336755.5:c.1021C>T	9.37:g.37349387C>T	ENSP00000337839:p.Pro341Ser					ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_Missense_Mutation_p.P51S	p.P341S	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN		GBM - Glioblastoma multiforme(29;0.0137)	7	1127	+			341					B2RCI4|D3DRQ0|Q5T0Q8|Q5T0Q9|Q5T0R0|Q8N2M1|Q8N4J2|Q8TBK8|Q9H648|Q9P0F0	Missense_Mutation	SNP	ENST00000336755.5	37	c.1021C>T	CCDS6608.2	.	.	.	.	.	.	.	.	.	.	C	9.590	1.125878	0.20959	.	.	ENSG00000147905	ENST00000336755;ENST00000534928	T;T	0.75938	-0.98;-0.98	5.7	3.63	0.41609	Zinc finger, CCHC retroviral-type (1);	0.593530	0.19292	N	0.117876	T	0.57344	0.2047	L	0.40543	1.245	0.32348	N	0.558818	B	0.20052	0.041	B	0.20767	0.031	T	0.51865	-0.8651	10	0.07813	T	0.8	-13.1561	4.7253	0.12938	0.188:0.6049:0.0:0.2071	.	341	Q8N3Z6	ZCHC7_HUMAN	S	341;51	ENSP00000337839:P341S;ENSP00000443113:P51S	ENSP00000337839:P341S	P	+	1	0	ZCCHC7	37339387	0.952000	0.32445	1.000000	0.80357	0.896000	0.52359	1.796000	0.38794	1.413000	0.46997	-0.289000	0.09944	CCT		0.418	ZCCHC7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052453.2	NM_032226		53	187	0	0	0	1	0	53	187				
RPTN	126638	broad.mit.edu	37	1	152127897	152127897	+	Missense_Mutation	SNP	C	C	T	rs575988132		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:152127897C>T	ENST00000316073.3	-	3	1742	c.1678G>A	c.(1678-1680)Ggt>Agt	p.G560S		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	560	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TCTGTCTGACCGTAGTGGGAA	0.502													C|||	1	0.000199681	0.0008	0.0	5008	,	,		23257	0.0		0.0	False		,,,				2504	0.0					ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1678-1680)Ggt>Agt		repetin							656.0	584.0	606.0					1																	152127897		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152127897C>T	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1678G>A	1.37:g.152127897C>T	ENSP00000317895:p.Gly560Ser						p.G560S	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1742	-			560			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.1678G>A	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.502510	0.26949	.	.	ENSG00000215853	ENST00000316073;ENST00000541545	T	0.16457	2.34	5.12	1.95	0.26073	.	.	.	.	.	T	0.04497	0.0123	M	0.66378	2.025	0.09310	N	1	P	0.35793	0.521	B	0.23275	0.045	T	0.34700	-0.9818	9	0.30078	T	0.28	0.0524	3.4999	0.07669	0.1617:0.4322:0.3149:0.0912	.	560	Q6XPR3	RPTN_HUMAN	S	560;215	ENSP00000317895:G560S	ENSP00000317895:G560S	G	-	1	0	RPTN	150394521	0.001000	0.12720	0.001000	0.08648	0.010000	0.07245	0.485000	0.22324	0.525000	0.28522	0.453000	0.30009	GGT		0.502	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		12	1640	0	0	0	1	0	12	1640				
KRTAP10-5	386680	broad.mit.edu	37	21	45999841	45999841	+	Silent	SNP	A	A	G	rs183168612	byFrequency	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr21:45999841A>G	ENST00000400372.1	-	1	640	c.615T>C	c.(613-615)tgT>tgC	p.C205C	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	205	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.C205C(2)		endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						AAGCCGGCTGACAGCTAGACT	0.632													.|||	12	0.00239617	0.0061	0.0029	5008	,	,		22259	0.0		0.0	False		,,,				2504	0.002					ENST00000400372.1																			2	Substitution - coding silent(2)	p.C205C(2)	lung(1)|prostate(1)	endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(613-615)tgT>tgC		keratin associated protein 10-5							155.0	160.0	158.0					21																	45999841		2203	4300	6503	SO:0001819	synonymous_variant	386680					keratin filament		g.chr21:45999841A>G	AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"""Keratin associated proteins"""	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.615T>C	21.37:g.45999841A>G						TSPEAR_ENST00000323084.4_Intron	p.C205C	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN			1	640	-			205			22 X 5 AA repeats of C-C-X(3).		Q0VAR7|Q0VAR8|Q70LJ3	Silent	SNP	ENST00000400372.1	37	c.615T>C	CCDS42958.1																																																																																				0.632	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1			6	654	0	0	0	1	0	6	654				
CR1	1378	broad.mit.edu	37	1	207787753	207787753	+	Nonsense_Mutation	SNP	C	C	T	rs55749440		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:207787753C>T	ENST00000367049.4	+	40	6580	c.6580C>T	c.(6580-6582)Cga>Tga	p.R2194*	CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*|CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1744					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.R1749*(9)|p.R2194*(9)|p.R1744*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTTAGGTTCCGATTAAAAGG	0.423																																						ENST00000367049.4																			19	Substitution - Nonsense(19)	p.R1749*(9)|p.R2194*(9)|p.R1744*(1)	lung(6)|endometrium(6)|prostate(3)|kidney(2)|central_nervous_system(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(6580-6582)Cga>Tga		complement component (3b/4b) receptor 1 (Knops blood group)							103.0	94.0	97.0					1																	207787753		1868	4107	5975	SO:0001587	stop_gained	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207787753C>T	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6580C>T	1.37:g.207787753C>T	ENSP00000356016:p.Arg2194*					CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*	p.R2194*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			40	6580	+			1744					Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Nonsense_Mutation	SNP	ENST00000367049.4	37	c.6580C>T	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	C	44	11.182593	0.99528	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	.	.	.	4.29	2.39	0.29439	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5152	0.27596	0.0:0.7891:0.0:0.2109	rs55749440	.	.	.	X	1744;1744;1744;1744;2194	.	ENSP00000356016:R2194X	R	+	1	2	CR1	205854376	0.129000	0.22400	0.370000	0.25965	0.352000	0.29268	0.213000	0.17521	0.518000	0.28383	0.436000	0.28706	CGA		0.423	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		4	135	0	0	0	1	0	4	135				
DVL3	1857	broad.mit.edu	37	3	183884692	183884692	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr3:183884692G>A	ENST00000313143.3	+	11	1375	c.1127G>A	c.(1126-1128)gGc>gAc	p.G376D	EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Missense_Mutation_p.G359D	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	376					canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CCTGCATACGGCATGAGCCCC	0.647																																						ENST00000313143.3																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35						c.(1126-1128)gGc>gAc		dishevelled segment polarity protein 3							127.0	119.0	122.0					3																	183884692		2203	4300	6503	SO:0001583	missense	1857				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	g.chr3:183884692G>A	D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"""Dishevelled homologs"""	3087	protein-coding gene	gene with protein product		601368	"""dishevelled 3 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 3 (Drosophila)"""			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.1127G>A	3.37:g.183884692G>A	ENSP00000316054:p.Gly376Asp					EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Missense_Mutation_p.G359D	p.G376D	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)		11	1375	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		376					B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Missense_Mutation	SNP	ENST00000313143.3	37	c.1127G>A	CCDS3253.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398229	0.83120	.	.	ENSG00000161202	ENST00000313143;ENST00000415612;ENST00000431765	T;T	0.04156	3.71;3.69	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.16557	0.0398	M	0.68593	2.085	0.80722	D	1	P;P;B;D	0.57257	0.94;0.94;0.232;0.979	P;P;B;P	0.55222	0.694;0.76;0.113;0.771	T	0.00172	-1.1958	10	0.33141	T	0.24	-34.8595	20.4387	0.99107	0.0:0.0:1.0:0.0	.	359;208;376;376	B4E3E5;Q9UG07;F5GWR8;Q92997	.;.;.;DVL3_HUMAN	D	376;376;359	ENSP00000316054:G376D;ENSP00000405885:G359D	ENSP00000316054:G376D	G	+	2	0	DVL3	185367386	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.008000	0.88588	2.836000	0.97738	0.655000	0.94253	GGC		0.647	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	NM_004423		6	462	0	0	0	1	0	6	462				
RNF213	57674	broad.mit.edu	37	17	78317808	78317808	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr17:78317808C>A	ENST00000582970.1	+	28	6478	c.6335C>A	c.(6334-6336)tCa>tAa	p.S2112*	RNF213_ENST00000508628.2_Nonsense_Mutation_p.S2161*|RNF213_ENST00000336301.6_Nonsense_Mutation_p.S185*	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2112					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGGAGCTCTTCAGCGCTGGTC	0.522																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(6334-6336)tCa>tAa		ring finger protein 213							66.0	63.0	64.0					17																	78317808		2203	4300	6503	SO:0001587	stop_gained	57674							g.chr17:78317808C>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.6335C>A	17.37:g.78317808C>A	ENSP00000464087:p.Ser2112*					RNF213_ENST00000336301.6_Nonsense_Mutation_p.S185*|RNF213_ENST00000508628.2_Nonsense_Mutation_p.S2161*	p.S2112*	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		28	6478	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Nonsense_Mutation	SNP	ENST00000582970.1	37	c.6335C>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	48	13.985513	0.99773	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	.	.	.	5.92	4.95	0.65309	.	0.399782	0.20762	N	0.086149	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.4264	0.55548	0.0:0.9217:0.0:0.0783	.	.	.	.	X	2112;2161;185	.	ENSP00000338218:S185X	S	+	2	0	RNF213	75932403	0.134000	0.22483	0.040000	0.18447	0.023000	0.10783	2.516000	0.45520	1.516000	0.48900	0.561000	0.74099	TCA		0.522	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		7	269	1	0	1	1	1	7	269				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687																																						ENST00000432432.2																			1	Substitution - coding silent(1)	p.K44K(1)	prostate(1)																																																0							g.chr2:95522786T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522786T>C								NR_040113.1						0	241	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.687	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			5	252	0	0	0	1	0	5	252				
HSPA5	3309	broad.mit.edu	37	9	128000914	128000914	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr9:128000914C>T	ENST00000324460.6	-	6	1392	c.1189G>A	c.(1189-1191)Ggt>Agt	p.G397S		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	397					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	ACAGCAGCACCATACGCTACA	0.478										Prostate(1;0.17)																												ENST00000324460.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23						c.(1189-1191)Ggt>Agt		heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	Antihemophilic Factor(DB00025)						105.0	89.0	94.0					9																	128000914		2203	4300	6503	SO:0001583	missense	3309				anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding	g.chr9:128000914C>T		CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"""Heat shock proteins / HSP70"""	5238	protein-coding gene	gene with protein product		138120	"""heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"""	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.1189G>A	9.37:g.128000914C>T	ENSP00000324173:p.Gly397Ser	Prostate(1;0.17)					p.G397S	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN			6	1392	-			397					B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Missense_Mutation	SNP	ENST00000324460.6	37	c.1189G>A	CCDS6863.1	.	.	.	.	.	.	.	.	.	.	C	33	5.269740	0.95429	.	.	ENSG00000044574	ENST00000324460	T	0.74526	-0.85	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.93167	0.7824	H	0.99937	4.99	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96722	0.9533	10	0.87932	D	0	-2.7014	16.4549	0.84009	0.0:1.0:0.0:0.0	.	397	P11021	GRP78_HUMAN	S	397	ENSP00000324173:G397S	ENSP00000324173:G397S	G	-	1	0	HSPA5	127040735	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.818000	0.86416	2.097000	0.63578	0.563000	0.77884	GGT		0.478	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1			58	186	0	0	0	1	0	58	186				
HLX	3142	broad.mit.edu	37	1	221057751	221057751	+	Missense_Mutation	SNP	C	C	T	rs199521070		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:221057751C>T	ENST00000366903.6	+	4	2673	c.1172C>T	c.(1171-1173)aCg>aTg	p.T391M	HLX_ENST00000549319.1_Missense_Mutation_p.T177M	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	391	Ser-rich.				cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		CCCAGCGACACGGAGCGGACT	0.642																																						ENST00000366903.6																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1171-1173)aCg>aTg		H2.0-like homeobox							59.0	52.0	55.0					1																	221057751		2203	4300	6503	SO:0001583	missense	3142				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:221057751C>T	BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"""Homeoboxes / ANTP class : NKL subclass"""	4978	protein-coding gene	gene with protein product		142995	"""H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1"""	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.1172C>T	1.37:g.221057751C>T	ENSP00000355870:p.Thr391Met					HLX_ENST00000549319.1_Missense_Mutation_p.T177M	p.T391M	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN		GBM - Glioblastoma multiforme(131;0.00914)	4	2673	+			391			Ser-rich.		B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	ENST00000366903.6	37	c.1172C>T	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.952214	0.53293	.	.	ENSG00000136630	ENST00000366903;ENST00000427693;ENST00000549319	D;T;T	0.90385	-2.66;0.51;3.29	5.03	4.09	0.47781	.	0.247697	0.27811	N	0.017749	D	0.84174	0.5414	N	0.24115	0.695	0.09310	N	1	P	0.48640	0.913	B	0.43809	0.432	T	0.77587	-0.2532	10	0.66056	D	0.02	-14.4125	9.6566	0.39930	0.1598:0.6859:0.1543:0.0	.	391	Q14774	HLX_HUMAN	M	391;124;177	ENSP00000355870:T391M;ENSP00000408248:T124M;ENSP00000449882:T177M	ENSP00000355870:T391M	T	+	2	0	HLX	219124374	0.977000	0.34250	0.038000	0.18304	0.737000	0.42083	2.102000	0.41796	1.207000	0.43291	0.561000	0.74099	ACG		0.642	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958		59	165	0	0	0	1	0	59	165				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs372981463		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	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		6	112	0	0	0	1	0	6	112				
KIF18A	81930	broad.mit.edu	37	11	28080600	28080600	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr11:28080600C>G	ENST00000263181.6	-	13	2111	c.1821G>C	c.(1819-1821)ttG>ttC	p.L607F	MIR610_ENST00000385139.1_RNA	NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	607					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TCCTCTCTACCAAATGTTCGA	0.408																																						ENST00000263181.6																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						c.(1819-1821)ttG>ttC		kinesin family member 18A							177.0	175.0	176.0					11																	28080600		2202	4299	6501	SO:0001583	missense	81930				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding	g.chr11:28080600C>G	AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.1821G>C	11.37:g.28080600C>G	ENSP00000263181:p.Leu607Phe						p.L607F	NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN			13	2111	-			607					Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	ENST00000263181.6	37	c.1821G>C	CCDS7867.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.524458	0.44969	.	.	ENSG00000121621	ENST00000263181	T	0.77098	-1.07	5.62	0.802	0.18686	.	0.070738	0.56097	D	0.000026	D	0.84215	0.5423	M	0.70275	2.135	0.46521	D	0.999083	D	0.89917	1.0	D	0.73380	0.98	T	0.81701	-0.0813	10	0.51188	T	0.08	.	10.6652	0.45726	0.0:0.2739:0.0:0.7261	.	607	Q8NI77	KI18A_HUMAN	F	607	ENSP00000263181:L607F	ENSP00000263181:L607F	L	-	3	2	KIF18A	28037176	0.986000	0.35501	0.989000	0.46669	0.381000	0.30169	0.007000	0.13174	-0.080000	0.12685	-0.229000	0.12294	TTG		0.408	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217		9	521	0	0	0	1	0	9	521				
CACNG2	10369	broad.mit.edu	37	22	36960760	36960760	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr22:36960760G>A	ENST00000300105.6	-	4	1591	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	RP5-1119A7.17_ENST00000562756.1_RNA	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	204					membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|neuromuscular junction development (GO:0007528)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TGTTTGTGCCGGTCGATAAAC	0.627																																						ENST00000300105.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(610-612)Cgg>Tgg		calcium channel, voltage-dependent, gamma subunit 2							99.0	115.0	110.0					22																	36960760		2203	4300	6503	SO:0001583	missense	10369				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr22:36960760G>A	AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862		"""Calcium channel subunits"""	1406	protein-coding gene	gene with protein product		602911					Standard	NM_006078		Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.610C>T	22.37:g.36960760G>A	ENSP00000300105:p.Arg204Trp						p.R204W	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN			4	1591	-			204					Q2M1M1|Q5TGT3|Q9UGZ7	Missense_Mutation	SNP	ENST00000300105.6	37	c.610C>T	CCDS13931.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964618	0.74131	.	.	ENSG00000166862	ENST00000300105	T	0.41065	1.01	5.47	5.47	0.80525	.	0.124937	0.56097	D	0.000032	T	0.60830	0.2299	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	P	0.62014	0.897	T	0.63093	-0.6714	10	0.87932	D	0	-9.67	19.3133	0.94199	0.0:0.0:1.0:0.0	.	204	Q9Y698	CCG2_HUMAN	W	204	ENSP00000300105:R204W	ENSP00000300105:R204W	R	-	1	2	CACNG2	35290706	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.488000	0.81441	2.575000	0.86900	0.655000	0.94253	CGG		0.627	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2			7	960	0	0	0	1	0	7	960				
LRIT1	26103	broad.mit.edu	37	10	85991943	85991943	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr10:85991943C>T	ENST00000372105.3	-	4	1633	c.1612G>A	c.(1612-1614)Gtc>Atc	p.V538I		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	538						integral component of endoplasmic reticulum membrane (GO:0030176)		p.V538I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						AGGGCAATGACGATGGCCACA	0.532																																						ENST00000372105.3																			1	Substitution - Missense(1)	p.V538I(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						c.(1612-1614)Gtc>Atc		leucine-rich repeat, immunoglobulin-like and transmembrane domains 1							112.0	88.0	96.0					10																	85991943		2203	4300	6503	SO:0001583	missense	26103					integral to endoplasmic reticulum membrane		g.chr10:85991943C>T	AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.1612G>A	10.37:g.85991943C>T	ENSP00000361177:p.Val538Ile						p.V538I	NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN			4	1633	-			538					Q0QD41|Q9Y4N7	Missense_Mutation	SNP	ENST00000372105.3	37	c.1612G>A	CCDS7373.1	.	.	.	.	.	.	.	.	.	.	C	9.192	1.026386	0.19512	.	.	ENSG00000148602	ENST00000372105	T	0.42513	0.97	5.62	2.5	0.30297	.	0.565141	0.18543	N	0.138159	T	0.24044	0.0582	L	0.41632	1.29	0.42532	D	0.993043	P	0.36633	0.562	B	0.29862	0.108	T	0.07770	-1.0755	10	0.07030	T	0.85	.	7.4198	0.27065	0.0:0.6491:0.0:0.3509	.	538	Q9P2V4	LRIT1_HUMAN	I	538	ENSP00000361177:V538I	ENSP00000361177:V538I	V	-	1	0	LRIT1	85981923	0.981000	0.34729	0.410000	0.26471	0.092000	0.18411	2.499000	0.45372	0.580000	0.29522	0.563000	0.77884	GTC		0.532	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613		30	163	0	0	0	1	0	30	163				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		7	234	0	0	0	1	0	7	234				
CDH26	60437	broad.mit.edu	37	20	58574705	58574705	+	Missense_Mutation	SNP	C	C	T	rs367650551		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr20:58574705C>T	ENST00000244047.5	+	14	2395	c.2084C>T	c.(2083-2085)aCg>aTg	p.T695M	CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000244049.3_Missense_Mutation_p.T28M|CDH26_ENST00000350849.6_Missense_Mutation_p.T28M|CDH26_ENST00000348616.4_Missense_Mutation_p.T695M			Q8IXH8	CAD26_HUMAN	cadherin 26	695					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)			GCAGGACCCACGCAGGGAGTT	0.522																																						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.(2083-2085)aCg>aTg		cadherin 26		C	MET/THR,MET/THR	2,4404	4.2+/-10.8	0,2,2201	84.0	81.0	82.0		83,2084	-5.8	0.0	20		82	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CDH26	NM_021810.4,NM_177980.2	81,81	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	possibly-damaging,possibly-damaging	28/166,695/833	58574705	3,13003	2203	4300	6503	SO:0001583	missense	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58574705C>T	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.2084C>T	20.37:g.58574705C>T	ENSP00000244047:p.Thr695Met					CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000350849.6_Missense_Mutation_p.T28M|CDH26_ENST00000244047.5_Missense_Mutation_p.T695M|CDH26_ENST00000244049.3_Missense_Mutation_p.T28M	p.T695M	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		14	2384	+	all_lung(29;0.00963)		695					A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37	c.2084C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.687|2.687	-0.274118|-0.274118	0.05679|0.05679	4.54E-4|4.54E-4	1.16E-4|1.16E-4	ENSG00000124215|ENSG00000124215	ENST00000370991|ENST00000244047;ENST00000348616;ENST00000244049;ENST00000350849;ENST00000456106	.|T;T;T	.|0.59638	.|0.25;0.54;0.54	2.88|2.88	-5.76|-5.76	0.02376|0.02376	.|.	.|.	.|.	.|.	.|.	T|T	0.22704|0.22704	0.0548|0.0548	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|P;P;P;B	.|0.43024	.|0.798;0.798;0.474;0.434	.|B;B;B;B	.|0.32465	.|0.094;0.146;0.032;0.07	T|T	0.20940|0.20940	-1.0260|-1.0260	5|9	.|0.34782	.|T	.|0.22	.|.	2.0821|2.0821	0.03637|0.03637	0.2073:0.422:0.0986:0.2721|0.2073:0.422:0.0986:0.2721	.|.	.|28;28;695;695	.|Q8IXH8-5;Q8IXH8-2;Q8IXH8;Q8IXH8-4	.|.;.;CAD26_HUMAN;.	C|M	287|695;695;28;28;28	.|ENSP00000244047:T695M;ENSP00000339390:T695M;ENSP00000310845:T28M	.|ENSP00000244047:T695M	R|T	+|+	1|2	0|0	CDH26|CDH26	58008100|58008100	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-2.002000|-2.002000	0.01464|0.01464	-1.744000|-1.744000	0.01338|0.01338	-3.845000|-3.845000	0.00018|0.00018	CGC|ACG		0.522	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		51	229	0	0	0	1	0	51	229				
LOC644669	644669	broad.mit.edu	37	18	15323347	15323347	+	RNA	SNP	T	T	C			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr18:15323347T>C	ENST00000455308.2	-	0	501				RNU6-721P_ENST00000410155.1_RNA	NR_027417.1																						CCAATAAAAGTGGTGTGTGGC	0.303																																						ENST00000455308.2																			0																																																			0							g.chr18:15323347T>C																													18.37:g.15323347T>C								NR_027417.1						0	501	-									RNA	SNP	ENST00000455308.2	37																																																																																						0.303	AP005901.1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373635.1			3	20	0	0	0	1	0	3	20				
SYNPO2L	79933	broad.mit.edu	37	10	75406859	75406859	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr10:75406859G>A	ENST00000394810.2	-	4	2700	c.2551C>T	c.(2551-2553)Cgg>Tgg	p.R851W	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R627W	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	851	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)		p.R627W(2)|p.R851W(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GGCTGATGCCGCATAAAATCT	0.577																																						ENST00000394810.2																			3	Substitution - Missense(3)	p.R627W(2)|p.R851W(1)	kidney(2)|large_intestine(1)	breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2551-2553)Cgg>Tgg		synaptopodin 2-like							59.0	70.0	66.0					10																	75406859		2201	4296	6497	SO:0001583	missense	79933					cytoplasm|cytoskeleton	actin binding	g.chr10:75406859G>A	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.2551C>T	10.37:g.75406859G>A	ENSP00000378289:p.Arg851Trp					SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R627W	p.R851W	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN			4	2700	-	Prostate(51;0.0112)		851			Pro-rich.		A5PKV9|Q68A20	Missense_Mutation	SNP	ENST00000394810.2	37	c.2551C>T	CCDS44438.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.172756	0.57584	.	.	ENSG00000166317	ENST00000372873;ENST00000394810	T;T	0.27720	1.65;1.98	5.08	3.02	0.34903	.	0.122449	0.53938	D	0.000053	T	0.49966	0.1588	L	0.59436	1.845	0.36226	D	0.852342	D;D	0.89917	1.0;1.0	D;D	0.72625	0.952;0.978	T	0.64210	-0.6461	10	0.72032	D	0.01	-15.751	14.6607	0.68868	0.0:0.0:0.653:0.347	.	851;627	Q9H987;Q9H987-2	SYP2L_HUMAN;.	W	627;851	ENSP00000361964:R627W;ENSP00000378289:R851W	ENSP00000361964:R627W	R	-	1	2	SYNPO2L	75076865	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.600000	0.36762	1.302000	0.44855	0.561000	0.74099	CGG		0.577	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	NM_024875		5	445	0	0	0	1	0	5	445				
LZTS3	9762	broad.mit.edu	37	20	3145122	3145122	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr20:3145122C>T	ENST00000329152.3	-	3	3397	c.2000G>A	c.(1999-2001)cGc>cAc	p.R667H	LZTS3_ENST00000337576.5_Missense_Mutation_p.R621H|LZTS3_ENST00000360342.3_Missense_Mutation_p.R621H			O60299	LZTS3_HUMAN		667						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)											GGACTCAATGCGCTCGAGGCG	0.647																																						ENST00000329152.3																			0											c.(1999-2001)cGc>cAc									57.0	59.0	58.0					20																	3145122		2203	4300	6503	SO:0001583	missense	0							g.chr20:3145122C>T																												ENST00000329152.3:c.2000G>A	20.37:g.3145122C>T	ENSP00000332123:p.Arg667His					LZTS3_ENST00000360342.3_Missense_Mutation_p.R621H|LZTS3_ENST00000337576.5_Missense_Mutation_p.R621H	p.R667H	NM_014731.2	NP_055546.1					3	3397	-								A2A2Q7|D3DVX6|Q8IXX8	Missense_Mutation	SNP	ENST00000329152.3	37	c.2000G>A	CCDS13049.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.274509	0.80580	.	.	ENSG00000088899	ENST00000329152;ENST00000360342;ENST00000337576	T;T;T	0.43294	0.95;1.09;1.09	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.52092	0.1713	L	0.27053	0.805	0.52099	D	0.999942	D;D	0.89917	1.0;0.998	D;D	0.69479	0.96;0.964	T	0.57768	-0.7754	10	0.72032	D	0.01	-15.1298	17.8165	0.88635	0.0:1.0:0.0:0.0	.	621;667	O60299-2;O60299	.;PRIP1_HUMAN	H	667;621;621	ENSP00000332123:R667H;ENSP00000353496:R621H;ENSP00000338166:R621H	ENSP00000332123:R667H	R	-	2	0	RP5-1187M17.10	3093122	0.975000	0.34042	1.000000	0.80357	0.961000	0.63080	2.377000	0.44300	2.442000	0.82660	0.555000	0.69702	CGC		0.647	LZTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077715.2			5	434	0	0	0	1	0	5	434				
SCNN1G	6340	broad.mit.edu	37	16	23226527	23226527	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr16:23226527C>T	ENST00000300061.2	+	13	1830	c.1687C>T	c.(1687-1689)Cgc>Tgc	p.R563C	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	563					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TATCATTGCCCGCCGCCAGTG	0.587																																						ENST00000300061.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34						c.(1687-1689)Cgc>Tgc		sodium channel, non-voltage-gated 1, gamma subunit	Amiloride(DB00594)|Triamterene(DB00384)						95.0	88.0	90.0					16																	23226527		2197	4300	6497	SO:0001583	missense	6340				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23226527C>T	U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10602	protein-coding gene	gene with protein product		600761	"""sodium channel, nonvoltage-gated 1, gamma"", ""sodium channel, non-voltage-gated 1, gamma"""			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.1687C>T	16.37:g.23226527C>T	ENSP00000300061:p.Arg563Cys						p.R563C	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN		GBM - Glioblastoma multiforme(48;0.0366)	13	1830	+			563					P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	ENST00000300061.2	37	c.1687C>T	CCDS10608.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801858	0.50315	.	.	ENSG00000166828	ENST00000300061	T	0.73258	-0.73	5.22	4.26	0.50523	.	0.000000	0.64402	D	0.000014	T	0.66790	0.2825	N	0.08118	0	0.51482	D	0.999928	D	0.89917	1.0	D	0.85130	0.997	T	0.67601	-0.5629	10	0.38643	T	0.18	-20.3075	9.9973	0.41907	0.1562:0.6932:0.1505:0.0	.	563	P51170	SCNNG_HUMAN	C	563	ENSP00000300061:R563C	ENSP00000300061:R563C	R	+	1	0	SCNN1G	23134028	1.000000	0.71417	0.466000	0.27168	0.654000	0.38779	2.845000	0.48254	1.154000	0.42482	0.561000	0.74099	CGC		0.587	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	NM_001039		83	259	0	0	0	1	0	83	259				
CRNN	49860	broad.mit.edu	37	1	152382520	152382520	+	Silent	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:152382520G>A	ENST00000271835.3	-	3	1100	c.1038C>T	c.(1036-1038)caC>caT	p.H346H	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	346	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTATCTGAGTGTGTCCTCCTG	0.597																																						ENST00000271835.3																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1036-1038)caC>caT		cornulin							234.0	198.0	210.0					1																	152382520		2203	4300	6503	SO:0001819	synonymous_variant	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382520G>A	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.1038C>T	1.37:g.152382520G>A						RP1-91G5.3_ENST00000411804.1_RNA	p.H346H	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1100	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		346			Gln-rich.		B2RE60|Q8N613	Silent	SNP	ENST00000271835.3	37	c.1038C>T	CCDS1010.1																																																																																				0.597	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		6	739	0	0	0	1	0	6	739				
SHKBP1	92799	broad.mit.edu	37	19	41083342	41083342	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr19:41083342G>A	ENST00000291842.5	+	3	230	c.181G>A	c.(181-183)Gga>Aga	p.G61R	SHKBP1_ENST00000600733.1_Missense_Mutation_p.G61R	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	61	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein homooligomerization (GO:0051260)					breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGATGAGACCGGAGCAGTGAG	0.607																																						ENST00000291842.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29						c.(181-183)Gga>Aga		SH3KBP1 binding protein 1							51.0	49.0	49.0					19																	41083342		2203	4300	6503	SO:0001583	missense	92799					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:41083342G>A	AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"""WD repeat domain containing"""	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.181G>A	19.37:g.41083342G>A	ENSP00000291842:p.Gly61Arg					SHKBP1_ENST00000600733.1_Missense_Mutation_p.G61R	p.G61R	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		3	230	+			61			BTB.		Q8N2I6|Q8WY93|Q96IB8	Missense_Mutation	SNP	ENST00000291842.5	37	c.181G>A	CCDS12560.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.919628	0.92249	.	.	ENSG00000160410	ENST00000291842	T	0.50813	0.73	4.55	4.55	0.56014	BTB/POZ-like (2);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.72755	0.3500	M	0.86740	2.835	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	T	0.79500	-0.1778	10	0.87932	D	0	-16.0636	16.1242	0.81382	0.0:0.0:1.0:0.0	.	61;61;61	Q8TBC3-2;B2R6W9;Q8TBC3	.;.;SHKB1_HUMAN	R	61	ENSP00000291842:G61R	ENSP00000291842:G61R	G	+	1	0	SHKBP1	45775182	1.000000	0.71417	0.985000	0.45067	0.646000	0.38490	8.296000	0.89940	2.113000	0.64589	0.306000	0.20318	GGA		0.607	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2	NM_138392		5	412	0	0	0	1	0	5	412				
KDM6B	23135	broad.mit.edu	37	17	7752044	7752044	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr17:7752044G>A	ENST00000448097.2	+	11	2769	c.2438G>A	c.(2437-2439)gGa>gAa	p.G813E	KDM6B_ENST00000254846.5_Missense_Mutation_p.G813E			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	813	Pro-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						GTGCTGGAGGGACAAAAGTAC	0.647																																						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.(2437-2439)gGa>gAa		lysine (K)-specific demethylase 6B							52.0	57.0	56.0					17																	7752044		2202	4300	6502	SO:0001583	missense	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.chr17:7752044G>A	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.2438G>A	17.37:g.7752044G>A	ENSP00000412513:p.Gly813Glu					KDM6B_ENST00000448097.2_Missense_Mutation_p.G813E	p.G813E	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			11	2827	+			813			Pro-rich.		C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.2438G>A		.	.	.	.	.	.	.	.	.	.	G	12.51	1.958268	0.34565	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.16897	2.31;2.31	4.54	4.54	0.55810	.	0.242138	0.31092	N	0.008272	T	0.22244	0.0536	N	0.19112	0.55	0.38701	D	0.952991	P;D	0.58268	0.816;0.982	B;P	0.55087	0.311;0.768	T	0.08229	-1.0732	10	0.87932	D	0	-5.6434	16.5716	0.84613	0.0:0.0:1.0:0.0	.	813;813	O15054;O15054-1	KDM6B_HUMAN;.	E	813	ENSP00000254846:G813E;ENSP00000412513:G813E	ENSP00000254846:G813E	G	+	2	0	KDM6B	7692769	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.418000	0.59828	2.526000	0.85167	0.462000	0.41574	GGA		0.647	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		101	242	0	0	0	1	0	101	242				
PDE10A	10846	broad.mit.edu	37	6	165806202	165806202	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr6:165806202G>A	ENST00000366882.1	-	17	1713	c.1559C>T	c.(1558-1560)gCg>gTg	p.A520V	PDE10A_ENST00000539869.2_Missense_Mutation_p.A530V|PDE10A_ENST00000354448.4_Missense_Mutation_p.A520V			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	520					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)	p.A520V(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	TACAGTGACCGCATGCTTCCA	0.438																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1																			1	Substitution - Missense(1)	p.A520V(1)	breast(1)	breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1558-1560)gCg>gTg		phosphodiesterase 10A	Dipyridamole(DB00975)						172.0	134.0	147.0					6																	165806202		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165806202G>A	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1559C>T	6.37:g.165806202G>A	ENSP00000355847:p.Ala520Val					PDE10A_ENST00000539869.2_Missense_Mutation_p.A530V|PDE10A_ENST00000354448.4_Missense_Mutation_p.A520V	p.A520V			Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	17	1713	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	520					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.1559C>T		.	.	.	.	.	.	.	.	.	.	G	24.6	4.554837	0.86231	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	D;D	0.88818	-2.43;-2.43	5.43	4.56	0.56223	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.047408	0.85682	D	0.000000	D	0.91509	0.7319	M	0.81942	2.565	0.58432	D	0.999999	D;D	0.71674	0.989;0.998	P;P	0.59171	0.465;0.853	D	0.91174	0.4971	10	0.41790	T	0.15	.	15.5814	0.76445	0.0:0.0:0.8611:0.1389	.	530;520	Q9ULW9;Q9Y233	.;PDE10_HUMAN	V	520;548;530;520;519	ENSP00000355847:A520V;ENSP00000346435:A520V	ENSP00000341187:A530V	A	-	2	0	PDE10A	165726192	1.000000	0.71417	0.209000	0.23619	0.911000	0.54048	9.074000	0.93998	1.275000	0.44379	0.585000	0.79938	GCG		0.438	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			4	183	0	0	0	1	0	4	183				
ALG1L	200810	broad.mit.edu	37	3	125647387	125647387	+	IGR	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr3:125647387G>A	ENST00000340333.3	-	0	805				FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like								transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						ACCAGAAACTGTTTCCCTATG	0.502																																						ENST00000485843.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr3:125647387G>A	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588		3.37:g.125647387G>A								NR_024251.1						0	532	+								D3DNA5	RNA	SNP	ENST00000340333.3	37		CCDS33840.1																																																																																				0.502	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		12	520	0	0	0	1	0	12	520				
ZAN	7455	broad.mit.edu	37	7	100350361	100350361	+	RNA	SNP	T	T	C	rs200387712		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr7:100350361T>C	ENST00000348028.3	+	0	2798				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACGGAAAAACTCACCATCCCC	0.502																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							331.0	375.0	361.0					7																	100350361		1881	4106	5987			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350361T>C	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350361T>C						ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2781	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	c	5.922	0.354238	0.11182	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.61392	0.11;0.11;0.11	3.16	1.24	0.21308	.	1.200500	0.06499	N	0.736017	T	0.29028	0.0721	N	0.01874	-0.695	0.20403	N	0.999901	B;B	0.14805	0.011;0.01	B;B	0.16722	0.016;0.007	T	0.18777	-1.0326	10	0.30854	T	0.27	.	4.9933	0.14226	0.0:0.6075:0.1758:0.2167	.	878;878	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	878	ENSP00000445943:L878P;ENSP00000445091:L878P;ENSP00000444427:L878P	ENSP00000423579:L878P	L	+	2	0	ZAN	100188297	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.610000	0.05629	0.035000	0.15519	-0.124000	0.14976	CTC		0.502	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		11	438	0	0	0	1	0	11	438				
CXCR2	3579	broad.mit.edu	37	2	219000390	219000390	+	Missense_Mutation	SNP	G	G	A	rs186640530		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr2:219000390G>A	ENST00000318507.2	+	3	1293	c.866G>A	c.(865-867)cGc>cAc	p.R289H		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	289					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						TGTGAGCGCCGCAATCACATC	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		19234	0.001		0.0	False		,,,				2504	0.0					ENST00000318507.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						c.(865-867)cGc>cAc		chemokine (C-X-C motif) receptor 2							83.0	78.0	79.0					2																	219000390		2203	4300	6503	SO:0001583	missense	3579				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	g.chr2:219000390G>A	U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6027	protein-coding gene	gene with protein product		146928	"""interleukin 8 receptor, beta"""	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.866G>A	2.37:g.219000390G>A	ENSP00000319635:p.Arg289His						p.R289H	NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN			3	1293	+			289					Q8IUZ1|Q9P2T6|Q9P2T7	Missense_Mutation	SNP	ENST00000318507.2	37	c.866G>A	CCDS2408.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.03	2.114961	0.37339	.	.	ENSG00000180871	ENST00000318507	T	0.37411	1.2	5.36	4.47	0.54385	GPCR, rhodopsin-like superfamily (1);	0.057955	0.64402	D	0.000006	T	0.48502	0.1503	M	0.70108	2.13	0.09310	N	0.999998	P	0.38767	0.646	P	0.50231	0.635	T	0.40440	-0.9563	9	.	.	.	.	9.7981	0.40748	0.1635:0.0:0.8365:0.0	.	289	P25025	CXCR2_HUMAN	H	289	ENSP00000319635:R289H	.	R	+	2	0	CXCR2	218708635	0.930000	0.31532	0.358000	0.25811	0.045000	0.14185	3.615000	0.54167	1.243000	0.43853	0.456000	0.33151	CGC		0.597	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	NM_001557		5	300	0	0	0	1	0	5	300				
CCDC9	26093	broad.mit.edu	37	19	47774764	47774764	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr19:47774764G>T	ENST00000221922.6	+	12	1647	c.1425G>T	c.(1423-1425)gaG>gaT	p.E475D		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	475							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		GTCCGGAGGAGCCCCTGCTGG	0.677																																						ENST00000221922.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12						c.(1423-1425)gaG>gaT		coiled-coil domain containing 9							54.0	65.0	61.0					19																	47774764		2203	4300	6503	SO:0001583	missense	26093							g.chr19:47774764G>T	AL050284	CCDS12698.1	19q13.33	2008-02-05				ENSG00000105321			24560	protein-coding gene	gene with protein product						11230166	Standard	NM_015603		Approved	DKFZP586M1019	uc010xym.2	Q9Y3X0		ENST00000221922.6:c.1425G>T	19.37:g.47774764G>T	ENSP00000221922:p.Glu475Asp						p.E475D	NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)	12	1647	+		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)	475						Missense_Mutation	SNP	ENST00000221922.6	37	c.1425G>T	CCDS12698.1	.	.	.	.	.	.	.	.	.	.	.	15.91	2.971115	0.53614	.	.	ENSG00000105321	ENST00000221922;ENST00000504556	T	0.25749	1.78	4.25	0.667	0.17907	.	0.951510	0.08620	N	0.918598	T	0.17577	0.0422	L	0.33485	1.01	0.31583	N	0.654852	B	0.06786	0.001	B	0.08055	0.003	T	0.28744	-1.0034	10	0.36615	T	0.2	-8.8316	5.4815	0.16727	0.1917:0.1632:0.6451:0.0	.	475	Q9Y3X0	CCDC9_HUMAN	D	475;457	ENSP00000221922:E475D	ENSP00000221922:E475D	E	+	3	2	CCDC9	52466604	0.998000	0.40836	0.009000	0.14445	0.138000	0.21146	2.748000	0.47483	0.445000	0.26639	0.281000	0.19383	GAG		0.677	CCDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466917.1	NM_015603		5	357	1	0	1	1	1	5	357				
PCDH1	5097	broad.mit.edu	37	5	141243880	141243880	+	Silent	SNP	G	G	A	rs149691852		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr5:141243880G>A	ENST00000394536.3	-	3	2155	c.2016C>T	c.(2014-2016)agC>agT	p.S672S	PCDH1_ENST00000456271.1_Silent_p.S660S|PCDH1_ENST00000287008.3_Silent_p.S672S|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000536585.1_Silent_p.S650S	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	672	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CTCGATCAAAGCTCAGGCTGG	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		22002	0.0		0.001	False		,,,				2504	0.0				Ovarian(132;1609 1739 4190 14731 45037)	ENST00000287008.3																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51						c.(2014-2016)agC>agT		protocadherin 1							130.0	127.0	128.0					5																	141243880		2203	4300	6503	SO:0001819	synonymous_variant	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141243880G>A	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.2016C>T	5.37:g.141243880G>A						PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000394536.3_Silent_p.S672S|PCDH1_ENST00000456271.1_Silent_p.S660S|PCDH1_ENST00000536585.1_Silent_p.S650S|PCDH1_ENST00000511044.1_5'UTR	p.S672S	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	3	2163	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	672			Cadherin 6.		Q8IUP2	Silent	SNP	ENST00000394536.3	37	c.2016C>T	CCDS43375.1																																																																																				0.552	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		70	222	0	0	0	1	0	70	222				
DPY19L2P2	349152	broad.mit.edu	37	7	102912190	102912190	+	RNA	SNP	T	T	G			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr7:102912190T>G	ENST00000312132.4	-	0	2389							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										TCTGGATAAATATGGAAGCGT	0.343																																						ENST00000312132.4																			0																																																			0							g.chr7:102912190T>G	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.102912190T>G														0	2389	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.343	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		4	159	0	0	0	1	0	4	159				
ZNF143	7702	broad.mit.edu	37	11	9519322	9519322	+	Silent	SNP	A	A	T	rs369479757		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr11:9519322A>T	ENST00000396602.2	+	10	1061	c.942A>T	c.(940-942)ctA>ctT	p.L314L	ZNF143_ENST00000396604.1_Silent_p.L313L|ZNF143_ENST00000530463.1_Silent_p.L313L|ZNF143_ENST00000299606.2_Silent_p.L286L|ZNF143_ENST00000396597.3_Silent_p.L283L	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	314					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		CAGGAGATCTACAGAAACACA	0.368																																						ENST00000396602.2																			0				endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13						c.(940-942)ctA>ctT		zinc finger protein 143							72.0	73.0	72.0					11																	9519322		2201	4294	6495	SO:0001819	synonymous_variant	7702				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding	g.chr11:9519322A>T	U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"""Zinc fingers, C2H2-type"""	12928	protein-coding gene	gene with protein product		603433	"""zinc finger protein 143 (clone pHZ-1)"""				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.942A>T	11.37:g.9519322A>T						ZNF143_ENST00000396604.1_Silent_p.L313L|ZNF143_ENST00000396597.3_Silent_p.L283L|ZNF143_ENST00000299606.2_Silent_p.L286L|ZNF143_ENST00000530463.1_Silent_p.L313L	p.L314L	NM_003442.5	NP_003433.3	P52747	ZN143_HUMAN		all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)	10	1061	+			314					A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Silent	SNP	ENST00000396602.2	37	c.942A>T	CCDS7799.2																																																																																				0.368	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313921.2	NM_003442		4	170	0	0	0	1	0	4	170				
RANBP9	10048	broad.mit.edu	37	6	13711709	13711709	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr6:13711709G>T	ENST00000011619.3	-	1	87	c.29C>A	c.(28-30)cCg>cAg	p.P10Q		NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	10	Poly-Pro.				axon guidance (GO:0007411)|microtubule nucleation (GO:0007020)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			ctgctgctgcggcggcggcgg	0.761																																						ENST00000011619.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16						c.(28-30)cCg>cAg		RAN binding protein 9							4.0	5.0	5.0					6																	13711709		764	1870	2634	SO:0001583	missense	10048				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding	g.chr6:13711709G>T	AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"""Ran Binding Protein in the Microtubule organizing center"""	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.29C>A	6.37:g.13711709G>T	ENSP00000011619:p.Pro10Gln						p.P10Q	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	Epithelial(50;0.223)		1	87	-	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	10			Poly-Pro.		A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Missense_Mutation	SNP	ENST00000011619.3	37	c.29C>A	CCDS4529.1	.	.	.	.	.	.	.	.	.	.	g	8.018	0.759040	0.15846	.	.	ENSG00000010017	ENST00000011619;ENST00000283152	T	0.78003	-1.14	1.59	-3.18	0.05186	.	.	.	.	.	T	0.30198	0.0757	N	0.08118	0	0.21416	N	0.999694	B	0.18968	0.032	B	0.10450	0.005	T	0.18555	-1.0333	9	0.30854	T	0.27	.	5.1241	0.14875	0.0:0.0:0.4149:0.5851	.	10	Q96S59	RANB9_HUMAN	Q	10	ENSP00000011619:P10Q	ENSP00000011619:P10Q	P	-	2	0	RANBP9	13819688	0.000000	0.05858	0.967000	0.41034	0.688000	0.40055	-1.054000	0.03496	-0.053000	0.13289	0.154000	0.16183	CCG		0.761	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1			5	57	1	0	0.014758	1	0.01565	5	57				
AGAP6	414189	broad.mit.edu	37	10	51754173	51754173	+	Missense_Mutation	SNP	G	G	T	rs569602183	byFrequency	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr10:51754173G>T	ENST00000374056.4	+	3	709	c.311G>T	c.(310-312)aGc>aTc	p.S104I	AGAP6_ENST00000412531.3_Missense_Mutation_p.S127I			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	104					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.S127I(2)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						ATAAGAAGAAGCAACTGTACA	0.269																																						ENST00000374056.4																			2	Substitution - Missense(2)	p.S127I(2)	prostate(1)|kidney(1)	NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						c.(310-312)aGc>aTc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 6							47.0	39.0	41.0					10																	51754173		692	1583	2275	SO:0001583	missense	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51754173G>T		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23466	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 3"""	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.311G>T	10.37:g.51754173G>T	ENSP00000363168:p.Ser104Ile					AGAP6_ENST00000412531.3_Missense_Mutation_p.S127I	p.S104I			C9IYN2	C9IYN2_HUMAN			3	709	+			127						Missense_Mutation	SNP	ENST00000374056.4	37	c.311G>T		.	.	.	.	.	.	.	.	.	.	G	3.288	-0.145481	0.06627	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	D	0.88124	-2.34	1.7	0.742	0.18341	.	0.278236	0.34555	N	0.003870	D	0.82788	0.5113	M	0.75615	2.305	0.21020	N	0.99981	B	0.26935	0.164	B	0.19946	0.027	T	0.74839	-0.3528	10	0.72032	D	0.01	.	6.1199	0.20148	0.1849:0.0:0.8151:0.0	.	127	C9IYN2	.	I	127;104	ENSP00000400972:S104I	ENSP00000363168:S127I	S	+	2	0	AGAP6	51424179	1.000000	0.71417	0.936000	0.37596	0.258000	0.26162	1.038000	0.30254	0.263000	0.21812	0.184000	0.17185	AGC		0.269	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		6	153	1	0	3.59834e-05	1	3.9459e-05	6	153				
TMEM161B	153396	broad.mit.edu	37	5	87502295	87502295	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr5:87502295C>A	ENST00000296595.6	-	7	744	c.620G>T	c.(619-621)aGt>aTt	p.S207I	TMEM161B_ENST00000506536.1_Missense_Mutation_p.S25I|TMEM161B_ENST00000511218.1_Missense_Mutation_p.S25I|TMEM161B_ENST00000509387.1_Missense_Mutation_p.S80I|TMEM161B_ENST00000512429.1_Missense_Mutation_p.S196I|TMEM161B_ENST00000514135.1_Missense_Mutation_p.S207I	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	207						integral component of membrane (GO:0016021)				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		CTGCATCGCACTGTCTGAAAA	0.279																																						ENST00000296595.6																			0				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20						c.(619-621)aGt>aTt		transmembrane protein 161B							13.0	15.0	14.0					5																	87502295		2174	4261	6435	SO:0001583	missense	153396					integral to membrane		g.chr5:87502295C>A	BC037287	CCDS4065.1, CCDS75269.1, CCDS75270.1	5q14.3	2008-02-05			ENSG00000164180	ENSG00000164180			28483	protein-coding gene	gene with protein product						12477932	Standard	NM_001289008		Approved	MGC33214	uc003kjc.3	Q8NDZ6	OTTHUMG00000131323	ENST00000296595.6:c.620G>T	5.37:g.87502295C>A	ENSP00000296595:p.Ser207Ile					TMEM161B_ENST00000512429.1_Missense_Mutation_p.S196I|TMEM161B_ENST00000509387.1_Missense_Mutation_p.S80I|TMEM161B_ENST00000514135.1_Missense_Mutation_p.S207I|TMEM161B_ENST00000506536.1_Missense_Mutation_p.S25I|TMEM161B_ENST00000511218.1_Missense_Mutation_p.S25I	p.S207I	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)	7	744	-		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)	207					Q5CZH7|Q6UWQ6	Missense_Mutation	SNP	ENST00000296595.6	37	c.620G>T	CCDS4065.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.891151	0.52014	.	.	ENSG00000164180	ENST00000514135;ENST00000296595;ENST00000506536;ENST00000511218;ENST00000512429;ENST00000443393;ENST00000509387	.	.	.	5.51	3.71	0.42584	.	0.186558	0.64402	D	0.000002	T	0.67382	0.2887	M	0.67397	2.05	0.80722	D	1	B;B	0.33044	0.083;0.395	P;B	0.44860	0.462;0.164	T	0.70550	-0.4841	9	0.72032	D	0.01	-7.8376	10.9255	0.47189	0.0:0.7979:0.1312:0.0709	.	25;207	B7Z6A5;Q8NDZ6	.;T161B_HUMAN	I	207;207;25;25;196;207;80	.	ENSP00000296595:S207I	S	-	2	0	TMEM161B	87538051	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.025000	0.57225	1.304000	0.44892	0.467000	0.42956	AGT		0.279	TMEM161B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254094.1	NM_153354		7	49	1	0	0.0381472	1	0.0402318	7	49				
TSSC2	650368	broad.mit.edu	37	11	3427885	3427885	+	RNA	SNP	A	A	G			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr11:3427885A>G	ENST00000529482.1	+	0	1002									tumor suppressing subtransferable candidate 2 pseudogene																		AGCTTCACAGATCCACCGCTG	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427885A>G			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.3427885A>G														0	1002	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			6	92	0	0	0	1	0	6	92				
RASGEF1C	255426	broad.mit.edu	37	5	179538479	179538479	+	Silent	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr5:179538479G>A	ENST00000393371.2	-	11	1577	c.1281C>T	c.(1279-1281)acC>acT	p.T427T	RASGEF1C_ENST00000522500.1_Silent_p.T276T|RASGEF1C_ENST00000361132.4_Silent_p.T427T			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	427	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGATGGGGGCGGTGTACAGGT	0.592																																						ENST00000393371.2																			0				breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12						c.(1279-1281)acC>acT		RasGEF domain family, member 1C							136.0	93.0	108.0					5																	179538479		2203	4300	6503	SO:0001819	synonymous_variant	255426				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity	g.chr5:179538479G>A	AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.1281C>T	5.37:g.179538479G>A						RASGEF1C_ENST00000522500.1_Silent_p.T276T|RASGEF1C_ENST00000361132.4_Silent_p.T427T	p.T427T			Q8N431	RGF1C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		11	1577	-	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	427			Ras-GEF.		D3DWQ7|Q7Z4T0|Q8NA49	Silent	SNP	ENST00000393371.2	37	c.1281C>T	CCDS4452.1																																																																																				0.592	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253506.2	NM_175062		44	150	0	0	0	1	0	44	150				
SLIT1	6585	broad.mit.edu	37	10	98816094	98816094	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr10:98816094G>A	ENST00000266058.4	-	13	1530	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	SLIT1_ENST00000371070.4_Missense_Mutation_p.R429W|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	429					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TGGATGGCCCGCAGGGAGGTG	0.622																																						ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(1285-1287)Cgg>Tgg		slit homolog 1 (Drosophila)							104.0	101.0	102.0					10																	98816094		2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98816094G>A	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.1285C>T	10.37:g.98816094G>A	ENSP00000266058:p.Arg429Trp					ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.R429W	p.R429W	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	13	1530	-		Colorectal(252;0.162)	429					Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.1285C>T	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056410	0.76074	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371070;ENST00000314867	T;T;T	0.58210	1.8;1.8;0.35	4.91	1.86	0.25419	.	0.059286	0.64402	D	0.000002	T	0.65647	0.2711	L	0.54908	1.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.922	T	0.66791	-0.5834	10	0.87932	D	0	.	13.5661	0.61819	0.0:0.0:0.593:0.407	.	439;429	E7EWQ8;O75093	.;SLIT1_HUMAN	W	429;439;429;422	ENSP00000266058:R429W;ENSP00000360109:R429W;ENSP00000315005:R422W	ENSP00000266058:R429W	R	-	1	2	SLIT1	98806084	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	5.433000	0.66520	0.194000	0.20326	0.561000	0.74099	CGG		0.622	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		6	362	0	0	0	1	0	6	362				
NHLRC4	283948	broad.mit.edu	37	16	618370	618370	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr16:618370C>A	ENST00000424439.2	+	2	980	c.323C>A	c.(322-324)gCc>gAc	p.A108D	PIGQ_ENST00000026218.5_5'Flank|PIGQ_ENST00000409527.2_Intron|NHLRC4_ENST00000540585.1_Missense_Mutation_p.A108D|PIGQ_ENST00000321878.5_5'Flank|PIGQ_ENST00000470411.2_5'Flank			P0CG21	NHLC4_HUMAN	NHL repeat containing 4	108																	GTGGCTGATGCCAAGGACAAC	0.667																																						ENST00000424439.2																			0											c.(322-324)gCc>gAc		NHL repeat containing 4							16.0	18.0	17.0					16																	618370		1941	4097	6038	SO:0001583	missense	283948							g.chr16:618370C>A		CCDS45366.1	16p13.3	2013-03-28			ENSG00000257108	ENSG00000257108			26700	protein-coding gene	gene with protein product						12477932	Standard	NM_001301159		Approved		uc002chl.3	P0CG21	OTTHUMG00000047857	ENST00000424439.2:c.323C>A	16.37:g.618370C>A	ENSP00000410858:p.Ala108Asp					NHLRC4_ENST00000540585.1_Missense_Mutation_p.A108D|PIGQ_ENST00000409527.2_Intron	p.A108D			P0CG21	NHLC4_HUMAN			2	980	+			108					B8ZZ27|Q8N233|Q96AX3|Q96S23	Missense_Mutation	SNP	ENST00000424439.2	37	c.323C>A	CCDS45366.1	.	.	.	.	.	.	.	.	.	.	C	5.854	0.341804	0.11069	.	.	ENSG00000257108	ENST00000424439;ENST00000540585	T;T	0.72282	-0.64;-0.64	4.16	1.95	0.26073	Six-bladed beta-propeller, TolB-like (1);	0.422812	0.16956	U	0.192698	T	0.65585	0.2705	L	0.46741	1.465	0.09310	N	1	P	0.51351	0.944	P	0.48524	0.58	T	0.55636	-0.8110	9	.	.	.	.	8.147	0.31117	0.1711:0.7326:0.0:0.0963	.	108	P0CG21	NHLC4_HUMAN	D	108	ENSP00000410858:A108D;ENSP00000442223:A108D	.	A	+	2	0	NHLRC4	558371	0.001000	0.12720	0.030000	0.17652	0.024000	0.10985	1.330000	0.33781	1.906000	0.55180	0.585000	0.79938	GCC		0.667	NHLRC4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397724.1	NM_176677		4	98	1	0	1	1	1	4	98				
NEUROD6	63974	broad.mit.edu	37	7	31377972	31377972	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr7:31377972G>A	ENST00000297142.3	-	2	1233	c.911C>T	c.(910-912)gCc>gTc	p.A304V		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	304					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	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)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						CCTGAACATGGCACCCTGCCC	0.468																																						ENST00000297142.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(910-912)gCc>gTc		neuronal differentiation 6							90.0	89.0	90.0					7																	31377972		2203	4300	6503	SO:0001583	missense	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31377972G>A	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.911C>T	7.37:g.31377972G>A	ENSP00000297142:p.Ala304Val						p.A304V	NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN			2	1233	-			304					Q548T9|Q9H3H6	Missense_Mutation	SNP	ENST00000297142.3	37	c.911C>T	CCDS5434.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629527	0.46944	.	.	ENSG00000164600	ENST00000297142	D	0.95238	-3.65	5.13	5.13	0.70059	.	0.108251	0.64402	D	0.000004	D	0.89181	0.6642	L	0.27053	0.805	0.50813	D	0.999898	B	0.16396	0.017	B	0.18263	0.021	D	0.84308	0.0509	10	0.02654	T	1	-19.6987	18.5931	0.91222	0.0:0.0:1.0:0.0	.	304	Q96NK8	NDF6_HUMAN	V	304	ENSP00000297142:A304V	ENSP00000297142:A304V	A	-	2	0	NEUROD6	31344497	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.414000	0.97362	2.386000	0.81285	0.650000	0.86243	GCC		0.468	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		5	234	0	0	0	1	0	5	234				
ALG1L	200810	broad.mit.edu	37	3	125647396	125647396	+	IGR	SNP	T	T	C			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr3:125647396T>C	ENST00000340333.3	-	0	805				FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like								transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						TGTTTCCCTATGAAGAGCACT	0.502																																						ENST00000485843.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr3:125647396T>C	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588		3.37:g.125647396T>C								NR_024251.1						0	541	+								D3DNA5	RNA	SNP	ENST00000340333.3	37		CCDS33840.1																																																																																				0.502	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		12	507	0	0	0	1	0	12	507				
KLK13	26085	broad.mit.edu	37	19	51561826	51561826	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr19:51561826C>T	ENST00000595793.1	-	4	656	c.614G>A	c.(613-615)gGc>gAc	p.G205D	KLK13_ENST00000335422.3_Missense_Mutation_p.G53D|KLK13_ENST00000595547.1_Missense_Mutation_p.G132D	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	205	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				protein processing (GO:0016485)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)	hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		CTCTTTTGTGCCGGCACACAA	0.527																																						ENST00000595793.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16						c.(613-615)gGc>gAc		kallikrein-related peptidase 13							206.0	186.0	193.0					19																	51561826		2203	4300	6503	SO:0001583	missense	26085				proteolysis		protein binding|serine-type endopeptidase activity	g.chr19:51561826C>T		CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759		"""Kallikreins"""	6361	protein-coding gene	gene with protein product		605505	"""kallikrein 13"""			16800724, 16800723	Standard	NM_015596		Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.614G>A	19.37:g.51561826C>T	ENSP00000470555:p.Gly205Asp					KLK13_ENST00000335422.3_Missense_Mutation_p.G53D|KLK13_ENST00000595547.1_Missense_Mutation_p.G132D	p.G205D	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)	4	656	-		all_neural(266;0.026)	205			Peptidase S1.		A7UNK6|Q86VI8|Q9Y433	Missense_Mutation	SNP	ENST00000595793.1	37	c.614G>A	CCDS12822.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130091	0.56721	.	.	ENSG00000167759	ENST00000156476;ENST00000335422	D	0.90133	-2.62	4.67	4.67	0.58626	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.136174	0.33732	N	0.004605	D	0.95971	0.8688	M	0.90595	3.13	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.983;0.999;0.999	D	0.96571	0.9423	10	0.87932	D	0	.	15.4416	0.75187	0.0:1.0:0.0:0.0	.	53;132;205	Q86VI8;Q86VI7;Q9UKR3	.;.;KLK13_HUMAN	D	205;53	ENSP00000334079:G53D	ENSP00000156476:G205D	G	-	2	0	KLK13	56253638	0.998000	0.40836	0.858000	0.33744	0.171000	0.22731	6.159000	0.71856	2.588000	0.87417	0.561000	0.74099	GGC		0.527	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464298.2	NM_015596		6	490	0	0	0	1	0	6	490				
AGO2	27161	broad.mit.edu	37	8	141554316	141554316	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr8:141554316G>A	ENST00000220592.5	-	14	1947	c.1835C>T	c.(1834-1836)gCc>gTc	p.A612V	AGO2_ENST00000519980.1_Missense_Mutation_p.A612V	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	612	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)										ACTCACGGCGGCAATGGAGGG	0.632																																						ENST00000220592.5																			0											c.(1834-1836)gCc>gTc		argonaute RISC catalytic component 2							103.0	114.0	110.0					8																	141554316		2203	4300	6503	SO:0001583	missense	27161							g.chr8:141554316G>A	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.1835C>T	8.37:g.141554316G>A	ENSP00000220592:p.Ala612Val					AGO2_ENST00000519980.1_Missense_Mutation_p.A612V	p.A612V	NM_012154.3	NP_036286.2					14	1947	-								Q8TCZ5|Q8WV58|Q96ID1	Missense_Mutation	SNP	ENST00000220592.5	37	c.1835C>T	CCDS6380.1	.	.	.	.	.	.	.	.	.	.	G	30	5.051705	0.93793	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	T;T	0.29397	1.57;1.57	5.35	5.35	0.76521	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.49218	0.1544	L	0.52126	1.63	0.80722	D	1	P;P	0.41569	0.742;0.755	P;P	0.56612	0.7;0.802	T	0.36237	-0.9756	10	0.52906	T	0.07	-4.8173	19.4318	0.94772	0.0:0.0:1.0:0.0	.	612;612	Q9UKV8-2;Q9UKV8	.;AGO2_HUMAN	V	612	ENSP00000220592:A612V;ENSP00000430176:A612V	ENSP00000220592:A612V	A	-	2	0	EIF2C2	141623498	1.000000	0.71417	0.180000	0.23079	0.810000	0.45777	9.744000	0.98853	2.664000	0.90586	0.650000	0.86243	GCC		0.632	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			6	966	0	0	0	1	0	6	966				
KRTAP4-6	81871	broad.mit.edu	37	17	39296282	39296282	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr17:39296282G>T	ENST00000345847.4	-	1	457	c.458C>A	c.(457-459)tCt>tAt	p.S153Y		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	153	30 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						ttcacagcaagaggggcggca	0.662																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(457-459)tCt>tAt		keratin associated protein 4-6																																				SO:0001583	missense	81871					keratin filament		g.chr17:39296282G>T	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.458C>A	17.37:g.39296282G>T	ENSP00000328270:p.Ser153Tyr						p.S153Y	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	457	-			149			29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].		Q9BYR1	Missense_Mutation	SNP	ENST00000345847.4	37	c.458C>A	CCDS54125.1	.	.	.	.	.	.	.	.	.	.	.	10.39	1.337834	0.24253	.	.	ENSG00000198090	ENST00000345847	T	0.01838	4.61	3.93	-1.16	0.09678	.	.	.	.	.	T	0.05181	0.0138	M	0.83012	2.62	0.09310	N	1	.	.	.	.	.	.	T	0.30297	-0.9983	7	0.27785	T	0.31	.	4.1853	0.10395	0.0937:0.4543:0.2973:0.1547	.	.	.	.	Y	153	ENSP00000328270:S153Y	ENSP00000328270:S153Y	S	-	2	0	KRTAP4-6	36549808	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.680000	0.01939	-0.014000	0.14175	-1.066000	0.02275	TCT		0.662	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			4	113	1	0	0.014758	1	0.01565	4	113				
SRCAP	10847	broad.mit.edu	37	16	30715613	30715613	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr16:30715613G>A	ENST00000262518.4	+	4	668	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	SRCAP_ENST00000395059.2_Missense_Mutation_p.E95K|RNU6-1043P_ENST00000410355.1_RNA|SRCAP_ENST00000344771.4_Missense_Mutation_p.E95K	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	95					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GAGCCATGCCGAAATTGCAGA	0.522																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(283-285)Gaa>Aaa		Snf2-related CREBBP activator protein							99.0	98.0	99.0					16																	30715613		1907	4121	6028	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30715613G>A	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.283G>A	16.37:g.30715613G>A	ENSP00000262518:p.Glu95Lys					SRCAP_ENST00000395059.2_Missense_Mutation_p.E95K|SRCAP_ENST00000344771.4_Missense_Mutation_p.E95K	p.E95K	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		4	668	+			95					B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.283G>A	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	16.05	3.011580	0.54468	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	T;T;T	0.77620	-1.11;-1.11;-1.11	4.95	4.95	0.65309	.	0.000000	0.51477	D	0.000096	T	0.70090	0.3184	N	0.08118	0	0.44985	D	0.998003	D	0.65815	0.995	P	0.52309	0.695	T	0.73777	-0.3876	10	0.38643	T	0.18	-4.5732	17.1213	0.86702	0.0:0.0:1.0:0.0	.	95	Q6ZRS2	SRCAP_HUMAN	K	95	ENSP00000262518:E95K;ENSP00000378499:E95K;ENSP00000343042:E95K	ENSP00000262518:E95K	E	+	1	0	SRCAP	30623114	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	5.090000	0.64498	2.582000	0.87167	0.650000	0.86243	GAA		0.522	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		5	494	0	0	0	1	0	5	494				
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr13:115047559C>T	ENST00000375299.3	+	2	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_ENST00000351487.5_Silent_p.L91L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	91	Required for interaction with UPF2.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.L91L(8)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731																																						ENST00000375299.3																			8	Substitution - coding silent(8)	p.L91L(8)	lung(2)|prostate(2)|kidney(2)|central_nervous_system(2)	autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16						c.(271-273)Ctg>Ttg		UPF3 regulator of nonsense transcripts homolog A (yeast)							4.0	4.0	4.0					13																	115047559		1902	3804	5706	SO:0001819	synonymous_variant	65110				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chr13:115047559C>T	AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.271C>T	13.37:g.115047559C>T						UPF3A_ENST00000351487.5_Silent_p.L91L	p.L91L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)	2	327	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	91			Required for interaction with UPF2.		A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Silent	SNP	ENST00000375299.3	37	c.271C>T	CCDS9543.1																																																																																				0.731	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2			3	27	0	0	0	1	0	3	27				
KCNC1	3746	broad.mit.edu	37	11	17757790	17757790	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr11:17757790G>A	ENST00000379472.3	+	1	271	c.241G>A	c.(241-243)Gac>Aac	p.D81N	KCNC1_ENST00000265969.6_Missense_Mutation_p.D81N	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	81					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	CTGCCCAGCCGACGTGTGCGG	0.662																																						ENST00000379472.3																			0				breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(241-243)Gac>Aac		potassium voltage-gated channel, Shaw-related subfamily, member 1							44.0	43.0	44.0					11																	17757790		2200	4292	6492	SO:0001583	missense	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17757790G>A	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.241G>A	11.37:g.17757790G>A	ENSP00000368785:p.Asp81Asn					KCNC1_ENST00000265969.6_Missense_Mutation_p.D81N	p.D81N	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN			1	271	+			81					K4DI87	Missense_Mutation	SNP	ENST00000379472.3	37	c.241G>A	CCDS7827.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422598	0.62622	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	T;T	0.76060	-0.99;-0.99	5.3	3.44	0.39384	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.099935	0.64402	N	0.000002	T	0.57873	0.2083	L	0.27975	0.815	0.80722	D	1	B;P	0.42375	0.246;0.778	B;B	0.39503	0.052;0.301	T	0.50898	-0.8773	10	0.11794	T	0.64	.	11.4045	0.49889	0.1469:0.0:0.8531:0.0	.	81;81	Q3KNS8;P48547	.;KCNC1_HUMAN	N	81	ENSP00000265969:D81N;ENSP00000368785:D81N	ENSP00000265969:D81N	D	+	1	0	KCNC1	17714366	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.757000	0.74924	0.629000	0.30376	0.491000	0.48974	GAC		0.662	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		5	238	0	0	0	1	0	5	238				
FANK1	92565	broad.mit.edu	37	10	127585212	127585212	+	Start_Codon_SNP	SNP	A	A	T	rs145156460		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr10:127585212A>T	ENST00000368693.1	+	1	105	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	FANK1_ENST00000449042.2_De_novo_Start_InFrame|FANK1_ENST00000368695.1_De_novo_Start_InFrame			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	1						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.M1L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GCAGCCGACCATGGAGCCCCA	0.761																																						ENST00000368695.1																			1	Substitution - Missense(1)	p.M1L(1)	central_nervous_system(1)	central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21								fibronectin type III and ankyrin repeat domains 1							9.0	12.0	11.0					10																	127585212		2172	4263	6435	SO:0001582	initiator_codon_variant	92565					cytoplasm|nucleus		g.chr10:127585212A>T	BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	23527	protein-coding gene	gene with protein product		611640	"""fibronectin type 3 and ankyrin repeat domains 1"""			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.1A>T	10.37:g.127585212A>T	ENSP00000357682:p.Met1Leu					FANK1_ENST00000449042.2_De_novo_Start_InFrame|FANK1_ENST00000368693.1_Start_Codon_SNP_p.M1L		NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN			0	105	+		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)						Q6UXY9|Q6X7T6	Translation_Start_Site	SNP	ENST00000368693.1	37		CCDS31309.1	.	.	.	.	.	.	.	.	.	.	A	7.904	0.735016	0.15574	.	.	ENSG00000203780	ENST00000368693	T	0.36520	1.25	2.62	2.62	0.31277	.	.	.	.	.	T	0.21801	0.0525	.	.	.	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.0;0.002	T	0.05886	-1.0858	8	0.25751	T	0.34	.	7.1163	0.25418	1.0:0.0:0.0:0.0	.	1;1	Q8TC84-3;Q8TC84	.;FANK1_HUMAN	L	1	ENSP00000357682:M1L	ENSP00000357682:M1L	M	+	1	0	FANK1	127575202	0.921000	0.31238	0.955000	0.39395	0.220000	0.24768	1.121000	0.31283	1.433000	0.47394	0.379000	0.24179	ATG		0.761	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145235	Missense_Mutation	5	68	0	0	0	1	0	5	68				
ARMC7	79637	broad.mit.edu	37	17	73125037	73125037	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr17:73125037C>A	ENST00000245543.1	+	3	803	c.501C>A	c.(499-501)ttC>ttA	p.F167L	ARMC7_ENST00000579096.1_3'UTR|NT5C_ENST00000579082.1_5'Flank|ARMC7_ENST00000581078.1_3'UTR	NM_024585.2	NP_078861.1	Q9H6L4	ARMC7_HUMAN	armadillo repeat containing 7	167						cytoplasm (GO:0005737)		p.F167F(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3)	9	all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			TGGAGGACTTCTGCTCCCCCC	0.701																																						ENST00000245543.1																			1	Substitution - coding silent(1)	p.F167F(1)	lung(1)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3)	9						c.(499-501)ttC>ttA		armadillo repeat containing 7							16.0	16.0	16.0					17																	73125037		2203	4298	6501	SO:0001583	missense	79637						binding	g.chr17:73125037C>A	AK025813	CCDS11714.1	17q25	2013-02-14				ENSG00000125449		"""Armadillo repeat containing"""	26168	protein-coding gene	gene with protein product						12477932	Standard	NM_024585		Approved	FLJ22160	uc002jmw.1	Q9H6L4		ENST00000245543.1:c.501C>A	17.37:g.73125037C>A	ENSP00000245543:p.Phe167Leu					ARMC7_ENST00000579096.1_3'UTR|ARMC7_ENST00000581078.1_3'UTR	p.F167L	NM_024585.2	NP_078861.1	Q9H6L4	ARMC7_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		3	803	+	all_lung(278;0.14)|Lung NSC(278;0.168)		167					B4DVA4	Missense_Mutation	SNP	ENST00000245543.1	37	c.501C>A	CCDS11714.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.969018	0.34754	.	.	ENSG00000125449	ENST00000245543	T	0.32272	1.46	5.18	4.22	0.49857	Armadillo-like helical (1);Armadillo-type fold (1);	0.478366	0.24633	N	0.036863	T	0.18923	0.0454	N	0.16478	0.41	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.04017	-1.0984	10	0.35671	T	0.21	.	10.8273	0.46640	0.0:0.7987:0.0:0.2013	.	167	Q9H6L4	ARMC7_HUMAN	L	167	ENSP00000245543:F167L	ENSP00000245543:F167L	F	+	3	2	ARMC7	70636632	1.000000	0.71417	0.968000	0.41197	0.367000	0.29736	2.074000	0.41529	1.338000	0.45544	-0.137000	0.14449	TTC		0.701	ARMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445846.1	NM_024585		18	76	1	0	2.5808e-16	1	2.9826e-16	18	76				
KLC4	89953	broad.mit.edu	37	6	43039979	43039979	+	Silent	SNP	C	C	A	rs145201350		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr6:43039979C>A	ENST00000394056.2	+	13	1969	c.1474C>A	c.(1474-1476)Cgg>Agg	p.R492R	KLC4_ENST00000347162.5_Silent_p.R492R|KLC4_ENST00000394058.1_Silent_p.R492R|RP11-387M24.5_ENST00000606123.1_RNA|KLC4_ENST00000259708.3_Silent_p.R510R|KLC4_ENST00000453940.2_Silent_p.R415R|KLC4_ENST00000479388.1_Silent_p.R492R			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	492						cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			ATGTGCCCTGCGGTCCCGGAG	0.602																																						ENST00000394056.2																			0				endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23						c.(1474-1476)Cgg>Agg		kinesin light chain 4							52.0	57.0	55.0					6																	43039979		2203	4300	6503	SO:0001819	synonymous_variant	89953					cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr6:43039979C>A	AK055293	CCDS4882.1, CCDS4883.1, CCDS47429.1, CCDS75459.1	6p21.1	2013-01-10	2005-09-13	2005-09-13	ENSG00000137171	ENSG00000137171		"""Tetratricopeptide (TTC) repeat domain containing"""	21624	protein-coding gene	gene with protein product			"""kinesin-like 8"""	KNSL8			Standard	NM_001289034		Approved	bA387M24.3	uc003otw.1	Q9NSK0	OTTHUMG00000014720	ENST00000394056.2:c.1474C>A	6.37:g.43039979C>A						KLC4_ENST00000479388.1_Silent_p.R492R|KLC4_ENST00000394058.1_Silent_p.R492R|KLC4_ENST00000347162.5_Silent_p.R492R|KLC4_ENST00000259708.3_Silent_p.R510R|KLC4_ENST00000453940.2_Silent_p.R415R	p.R492R			Q9NSK0	KLC4_HUMAN	all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)		13	1969	+			492					B3KNY4|B3KPI3|B3KSQ3|B4DME9|Q66K28|Q96EG6	Silent	SNP	ENST00000394056.2	37	c.1474C>A	CCDS4883.1																																																																																				0.602	KLC4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040579.2	NM_138343		4	190	1	0	0.150653	1	0.158022	4	190				
RUSC2	9853	broad.mit.edu	37	9	35555589	35555589	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr9:35555589T>A	ENST00000455600.1	+	3	3116	c.2547T>A	c.(2545-2547)caT>caA	p.H849Q		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	849						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			ACCGGCTCCATGGAACAGGAA	0.647																																						ENST00000455600.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2545-2547)caT>caA		RUN and SH3 domain containing 2							46.0	45.0	46.0					9																	35555589		2203	4300	6503	SO:0001583	missense	9853					cytosol		g.chr9:35555589T>A	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.2547T>A	9.37:g.35555589T>A	ENSP00000393922:p.His849Gln						p.H849Q	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		3	3116	+			849					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.2547T>A	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	T	17.20	3.328553	0.60743	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.23348	1.91;1.91	4.15	4.15	0.48705	.	0.295723	0.38272	N	0.001756	T	0.25306	0.0615	L	0.29908	0.895	0.39729	D	0.971581	D	0.61697	0.99	P	0.50537	0.643	T	0.02901	-1.1096	10	0.37606	T	0.19	-8.6196	11.4069	0.49902	0.0:0.0:0.0:1.0	.	849	Q8N2Y8	RUSC2_HUMAN	Q	849	ENSP00000355177:H849Q;ENSP00000393922:H849Q	ENSP00000355177:H849Q	H	+	3	2	RUSC2	35545589	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.372000	0.44257	1.863000	0.54032	0.533000	0.62120	CAT		0.647	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		82	243	0	0	0	1	0	82	243				
C9orf106	414318	broad.mit.edu	37	9	132084600	132084600	+	RNA	SNP	C	C	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr9:132084600C>A	ENST00000316786.1	+	0	561							Q8NAJ2	CI106_HUMAN	chromosome 9 open reading frame 106											large_intestine(1)|lung(1)|ovary(1)|skin(1)	4		Ovarian(14;0.00556)|Medulloblastoma(224;0.235)				TGGCTCTGCCCTCAGAGCACT	0.612																																						ENST00000316786.1																			0				large_intestine(1)|lung(1)|ovary(1)|skin(1)	4								chromosome 9 open reading frame 106							42.0	45.0	44.0					9																	132084600		1995	4166	6161			414318							g.chr9:132084600C>A	AK092588		9q34.11	2013-12-05	2013-12-05	2013-12-05	ENSG00000179082	ENSG00000179082			31370	other	unknown							Standard	NM_001012715		Approved	bA65J3.5	uc004bxs.2	Q8NAJ2	OTTHUMG00000020781		9.37:g.132084600C>A										Q8NAJ2	CI106_HUMAN			0	561	+		Ovarian(14;0.00556)|Medulloblastoma(224;0.235)							RNA	SNP	ENST00000316786.1	37																																																																																						0.612	C9orf106-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000054576.2			45	143	1	0	5.20006e-24	1	6.11958e-24	45	143				
CNTN3	5067	broad.mit.edu	37	3	74351867	74351867	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr3:74351867G>T	ENST00000263665.6	-	13	1787	c.1760C>A	c.(1759-1761)tCa>tAa	p.S587*		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	587	Ig-like C2-type 6.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AGCAGCAGATGAAACACTGTC	0.418																																						ENST00000263665.6																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(1759-1761)tCa>tAa		contactin 3 (plasmacytoma associated)							118.0	100.0	106.0					3																	74351867		2203	4300	6503	SO:0001587	stop_gained	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74351867G>T	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1760C>A	3.37:g.74351867G>T	ENSP00000263665:p.Ser587*						p.S587*	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	13	1787	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	587			Ig-like C2-type 6.		B9EK50|Q9H039	Nonsense_Mutation	SNP	ENST00000263665.6	37	c.1760C>A	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	G	38	6.834241	0.97873	.	.	ENSG00000113805	ENST00000263665	.	.	.	5.08	5.08	0.68730	.	0.136971	0.51477	D	0.000086	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.9949	0.86365	0.0:0.0:1.0:0.0	.	.	.	.	X	587	.	ENSP00000263665:S587X	S	-	2	0	CNTN3	74434557	1.000000	0.71417	0.403000	0.26384	0.815000	0.46073	6.862000	0.75484	2.523000	0.85059	0.585000	0.79938	TCA		0.418	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		26	80	1	0	6.32553e-13	1	7.26683e-13	26	80				
PCDHA4	56144	broad.mit.edu	37	5	140188813	140188813	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr5:140188813C>T	ENST00000530339.1	+	1	2041	c.2041C>T	c.(2041-2043)Cgg>Tgg	p.R681W	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.R681W|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.R681W	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	681					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCTCCTCACGGGCGTTGGT	0.632																																						ENST00000530339.1																			0				breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(2041-2043)Cgg>Tgg									57.0	57.0	57.0					5																	140188813		2203	4300	6503	SO:0001583	missense	0							g.chr5:140188813C>T	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.2041C>T	5.37:g.140188813C>T	ENSP00000435300:p.Arg681Trp					PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.R681W|PCDHA4_ENST00000356878.4_Missense_Mutation_p.R681W	p.R681W	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2041	+								O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.2041C>T	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	c	11.80	1.746491	0.30955	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.54071	0.63;0.59;0.6	3.93	-0.744	0.11101	.	0.210729	0.23351	U	0.049123	T	0.51466	0.1676	M	0.89601	3.045	0.09310	N	1	B;B;B	0.32717	0.381;0.082;0.137	B;B;B	0.32289	0.143;0.022;0.022	T	0.52366	-0.8585	10	0.66056	D	0.02	.	4.0101	0.09619	0.4068:0.383:0.1322:0.078	.	681;681;681	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	W	681	ENSP00000423470:R681W;ENSP00000349344:R681W;ENSP00000435300:R681W	ENSP00000349344:R681W	R	+	1	2	PCDHA4	140168997	0.171000	0.23029	0.001000	0.08648	0.014000	0.08584	0.000000	0.12993	-0.051000	0.13334	-0.516000	0.04426	CGG		0.632	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		59	226	0	0	0	1	0	59	226				
PRG4	10216	broad.mit.edu	37	1	186276027	186276027	+	Silent	SNP	T	T	C			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:186276027T>C	ENST00000445192.2	+	7	1221	c.1176T>C	c.(1174-1176)acT>acC	p.T392T	PRG4_ENST00000367486.3_Silent_p.T349T|PRG4_ENST00000367483.4_Silent_p.T351T|PRG4_ENST00000367484.3_Silent_p.T351T|PRG4_ENST00000367485.4_Silent_p.T299T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	392	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACTCCCAAGGAGC	0.637																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1174-1176)acT>acC		proteoglycan 4																																				SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276027T>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1176T>C	1.37:g.186276027T>C						PRG4_ENST00000367483.4_Silent_p.T351T|PRG4_ENST00000367484.3_Silent_p.T351T|PRG4_ENST00000367486.3_Silent_p.T349T|PRG4_ENST00000367485.4_Silent_p.T299T	p.T392T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1221	+			392			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1176T>C	CCDS1369.1																																																																																				0.637	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		8	500	0	0	0	1	0	8	500				
SLC25A6	293	broad.mit.edu	37	X	1505518	1505518	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chrX:1505518C>A	ENST00000381401.5	-	4	1588	c.874G>T	c.(874-876)Gac>Tac	p.D292Y	SLC25A6_ENST00000475167.1_5'Flank	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	292					active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	TTGAGCTCGTCGTACAGGACC	0.607																																						ENST00000381401.5																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11						c.(874-876)Gac>Tac		solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	Clodronate(DB00720)						218.0	204.0	208.0					X																	1505518		2203	4296	6499	SO:0001583	missense	293				active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding	g.chrX:1505518C>A	AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"""Pseudoautosomal regions / PAR1"", ""Solute carriers"""	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.874G>T	X.37:g.1505518C>A	ENSP00000370808:p.Asp292Tyr						p.D292Y	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN			4	1588	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	292					Q96C49	Missense_Mutation	SNP	ENST00000381401.5	37	c.874G>T	CCDS14114.1	.	.	.	.	.	.	.	.	.	.	.	12.76	2.035568	0.35893	.	.	ENSG00000169100	ENST00000381401	D	0.82081	-1.57	1.85	0.934	0.19477	Mitochondrial carrier domain (2);	0.000000	0.51477	U	0.000085	D	0.92964	0.7761	H	0.97829	4.085	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84916	0.0851	10	0.87932	D	0	.	8.2615	0.31788	0.0:0.8669:0.0:0.1331	.	292	P12236	ADT3_HUMAN	Y	292	ENSP00000370808:D292Y	ENSP00000370808:D292Y	D	-	1	0	SLC25A6	1465518	1.000000	0.71417	0.651000	0.29564	0.948000	0.59901	5.933000	0.70130	0.086000	0.17137	0.402000	0.26972	GAC		0.607	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055596.1	NM_001636		6	607	1	0	4.096e-09	1	4.59609e-09	6	607				
TSSC2	650368	broad.mit.edu	37	11	3427759	3427759	+	RNA	SNP	C	C	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr11:3427759C>T	ENST00000529482.1	+	0	876									tumor suppressing subtransferable candidate 2 pseudogene																		TGTCTGCACACGTCCTGCAGT	0.612																																						ENST00000529482.1																			0																																																			0							g.chr11:3427759C>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.3427759C>T														0	876	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.612	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			5	186	0	0	0	1	0	5	186				
RHOA	387	broad.mit.edu	37	3	49395482	49395482	+	IGR	SNP	G	G	C	rs201944086	byFrequency	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr3:49395482G>C	ENST00000418115.1	-	0	2031				GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419783.1_Missense_Mutation_p.P77R|GPX1_ENST00000419349.1_Missense_Mutation_p.P77R	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A						actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CTGGTTGCACGGGAAGCCGAG	0.726																																						ENST00000419783.1																			0				breast(1)|large_intestine(2)|lung(1)	4						c.(229-231)cCg>cGg		glutathione peroxidase 1	Glutathione(DB00143)						11.0	14.0	13.0					3																	49395482		1848	4061	5909	SO:0001628	intergenic_variant	2876				anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding	g.chr3:49395482G>C	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838		3.37:g.49395482G>C						GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419349.1_Missense_Mutation_p.P77R	p.P77R	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	551	-			77					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	c.230C>G	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	G	36	5.745728	0.96882	.	.	ENSG00000233276	ENST00000419783;ENST00000419349	T;T	0.25085	1.82;1.82	5.88	5.88	0.94601	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.63070	0.2480	M	0.93150	3.385	0.80722	D	1	D;D	0.71674	0.998;0.988	D;P	0.68483	0.958;0.891	T	0.72279	-0.4340	10	0.87932	D	0	.	18.8152	0.92075	0.0:0.0:1.0:0.0	.	77;77	E9PAS1;P07203	.;GPX1_HUMAN	R	77	ENSP00000407375:P77R;ENSP00000391316:P77R	ENSP00000391316:P77R	P	-	2	0	GPX1	49370486	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.875000	0.87205	2.788000	0.95919	0.555000	0.69702	CCG		0.726	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		5	126	0	0	0	1	0	5	126				
SMU1	55234	broad.mit.edu	37	9	33068870	33068870	+	Silent	SNP	G	G	A	rs113018466		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr9:33068870G>A	ENST00000397149.3	-	4	503	c.453C>T	c.(451-453)ggC>ggT	p.G151G	SMU1_ENST00000536631.1_5'UTR	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	151						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CACTGACTTCGCCAGCTAAGG	0.507													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19589	0.0		0.0	False		,,,				2504	0.0					ENST00000397149.3																			0				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9						c.(451-453)ggC>ggT		smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)		G		10,4396	17.9+/-39.9	0,10,2193	191.0	152.0	166.0		453	-0.1	1.0	9	dbSNP_132	166	0,8600		0,0,4300	no	coding-synonymous	SMU1	NM_018225.2		0,10,6493	AA,AG,GG		0.0,0.227,0.0769		151/514	33068870	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	55234					cytoplasm|nucleus		g.chr9:33068870G>A	AK001667	CCDS6534.1	9p12	2013-01-10			ENSG00000122692	ENSG00000122692		"""WD repeat domain containing"""	18247	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 57"""					11438655, 11410362	Standard	NM_018225		Approved	SMU-1, FLJ10805, BWD, fSAP57	uc003zsf.1	Q2TAY7	OTTHUMG00000019757	ENST00000397149.3:c.453C>T	9.37:g.33068870G>A						SMU1_ENST00000536631.1_5'UTR	p.G151G	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)	4	503	-			151					B4E3L0|Q9BU59|Q9HA96|Q9NVD1	Silent	SNP	ENST00000397149.3	37	c.453C>T	CCDS6534.1																																																																																				0.507	SMU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052022.1	NM_018225		4	188	0	0	0	1	0	4	188				
CNTN3	5067	broad.mit.edu	37	3	74351868	74351868	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr3:74351868A>T	ENST00000263665.6	-	13	1786	c.1759T>A	c.(1759-1761)Tca>Aca	p.S587T		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	587	Ig-like C2-type 6.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GCAGCAGATGAAACACTGTCC	0.418																																						ENST00000263665.6																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(1759-1761)Tca>Aca		contactin 3 (plasmacytoma associated)							119.0	101.0	107.0					3																	74351868		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74351868A>T	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1759T>A	3.37:g.74351868A>T	ENSP00000263665:p.Ser587Thr						p.S587T	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	13	1786	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	587			Ig-like C2-type 6.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.1759T>A	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	A	17.58	3.425150	0.62733	.	.	ENSG00000113805	ENST00000263665	T	0.64991	-0.13	5.08	5.08	0.68730	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.136971	0.51477	D	0.000086	T	0.60702	0.2289	L	0.53249	1.67	0.46749	D	0.999185	P	0.35192	0.489	B	0.41691	0.364	T	0.60806	-0.7190	10	0.38643	T	0.18	.	10.7556	0.46234	0.8287:0.1713:0.0:0.0	.	587	Q9P232	CNTN3_HUMAN	T	587	ENSP00000263665:S587T	ENSP00000263665:S587T	S	-	1	0	CNTN3	74434558	1.000000	0.71417	0.433000	0.26760	0.861000	0.49209	4.988000	0.63863	2.039000	0.60335	0.477000	0.44152	TCA		0.418	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		26	81	0	0	0	1	0	26	81				
NUP62	23636	broad.mit.edu	37	19	50412865	50412865	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr19:50412865G>A	ENST00000596217.1	-	2	2087	c.200C>T	c.(199-201)cCg>cTg	p.P67L	NUP62_ENST00000597029.1_Missense_Mutation_p.P67L|CTC-326K19.6_ENST00000451973.1_3'UTR|NUP62_ENST00000413454.1_Missense_Mutation_p.P67L|NUP62_ENST00000597723.1_Missense_Mutation_p.P67L|NUP62_ENST00000422090.2_Missense_Mutation_p.P67L|IL4I1_ENST00000341114.3_Intron|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000600583.1_5'Flank|NUP62_ENST00000352066.3_Missense_Mutation_p.P67L			P37198	NUP62_HUMAN	nucleoporin 62kDa	67	15 X 9 AA approximate repeats.|Thr-rich.				carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CTGTGTGGCCGGAGTCTGGGT	0.552																																						ENST00000596217.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19						c.(199-201)cCg>cTg		nucleoporin 62kDa							150.0	154.0	153.0					19																	50412865		2203	4300	6503	SO:0001583	missense	23636				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding	g.chr19:50412865G>A	X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"""nuclear pore glycoprotein p62"""	605815	"""nucleoporin 62kD"""			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.200C>T	19.37:g.50412865G>A	ENSP00000471191:p.Pro67Leu					IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000597029.1_Missense_Mutation_p.P67L|NUP62_ENST00000597723.1_Missense_Mutation_p.P67L|NUP62_ENST00000352066.3_Missense_Mutation_p.P67L|CTC-326K19.6_ENST00000451973.1_3'UTR|NUP62_ENST00000413454.1_Missense_Mutation_p.P67L|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000422090.2_Missense_Mutation_p.P67L	p.P67L			P37198	NUP62_HUMAN		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	2	2087	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	67			15 X 9 AA approximate repeats.|Thr-rich.		B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Missense_Mutation	SNP	ENST00000596217.1	37	c.200C>T	CCDS12788.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.755489	0.31046	.	.	ENSG00000213024	ENST00000319225;ENST00000352066;ENST00000422090;ENST00000413454	T;T;T	0.38722	1.12;1.12;1.12	4.16	3.12	0.35913	Nucleoporin, NSP1-like, C-terminal (1);	0.403038	0.21678	U	0.070777	T	0.29716	0.0742	L	0.38531	1.155	0.42109	D	0.991379	P;P	0.47545	0.89;0.897	B;B	0.39419	0.299;0.157	T	0.13683	-1.0500	10	0.72032	D	0.01	-4.6212	7.9938	0.30256	0.1097:0.0:0.8903:0.0	.	67;67	Q8WYU3;P37198	.;NUP62_HUMAN	L	67	ENSP00000305503:P67L;ENSP00000407331:P67L;ENSP00000387991:P67L	ENSP00000321866:P67L	P	-	2	0	NUP62	55104677	0.914000	0.31030	0.018000	0.16275	0.019000	0.09904	6.760000	0.74939	1.339000	0.45563	0.655000	0.94253	CCG		0.552	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1	NM_153719		6	610	0	0	0	1	0	6	610				
TUBGCP6	85378	broad.mit.edu	37	22	50659293	50659293	+	Silent	SNP	G	G	A	rs540310913	byFrequency	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr22:50659293G>A	ENST00000248846.5	-	16	3599	c.3495C>T	c.(3493-3495)tcC>tcT	p.S1165S	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_Silent_p.S1165S			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1165	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)	p.S1165S(2)		breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGCTGGCATCGGACACGTGTC	0.637													N|||	2	0.000399361	0.0008	0.0	5008	,	,		22548	0.0		0.0	False		,,,				2504	0.001					ENST00000439308.2																			2	Substitution - coding silent(2)	p.S1165S(2)	large_intestine(1)|endometrium(1)	breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(3493-3495)tcC>tcT		tubulin, gamma complex associated protein 6							90.0	83.0	85.0					22																	50659293		2203	4300	6503	SO:0001819	synonymous_variant	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50659293G>A	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.3495C>T	22.37:g.50659293G>A						TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Silent_p.S1165S	p.S1165S	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	16	3987	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1165			9 X 27 AA tandem repeats.		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	c.3495C>T	CCDS14087.1																																																																																				0.637	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		5	353	0	0	0	1	0	5	353				
WNT4	54361	broad.mit.edu	37	1	22446807	22446807	+	Silent	SNP	C	C	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:22446807C>T	ENST00000290167.6	-	5	835	c.792G>A	c.(790-792)ccG>ccA	p.P264P	WNT4_ENST00000542383.1_Silent_p.P209P	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN	wingless-type MMTV integration site family, member 4	264					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|embryonic epithelial tube formation (GO:0001838)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization to plasma membrane (GO:0090002)|female gonad development (GO:0008585)|female sex determination (GO:0030237)|immature T cell proliferation in thymus (GO:0033080)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|mammary gland epithelium development (GO:0061180)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric nephron morphogenesis (GO:0072273)|metanephric tubule formation (GO:0072174)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of gene expression (GO:0010629)|negative regulation of male gonad development (GO:2000019)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of testicular blood vessel morphogenesis (GO:0061369)|negative regulation of testosterone biosynthetic process (GO:2000225)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of wound healing (GO:0061045)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via MAPK cascade (GO:0038030)|oocyte development (GO:0048599)|paramesonephric duct development (GO:0061205)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cortisol biosynthetic process (GO:2000066)|positive regulation of dermatome development (GO:0061184)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of meiosis (GO:0045836)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|protein palmitoylation (GO:0018345)|regulation of cell-cell adhesion (GO:0022407)|renal vesicle formation (GO:0072033)|renal vesicle induction (GO:0072034)|smooth muscle cell differentiation (GO:0051145)|somatotropin secreting cell differentiation (GO:0060126)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription corepressor activity (GO:0003714)	p.P264P(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CATCTGTGTGCGGCTTGAACT	0.632																																						ENST00000290167.6																			1	Substitution - coding silent(1)	p.P264P(1)	large_intestine(1)	breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8						c.(790-792)ccG>ccA		wingless-type MMTV integration site family, member 4							155.0	130.0	139.0					1																	22446807		2203	4300	6503	SO:0001819	synonymous_variant	54361				adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|extracellular space|Golgi apparatus|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity	g.chr1:22446807C>T	AL031281	CCDS223.1	1p36.23-p35.1	2013-02-28			ENSG00000162552	ENSG00000162552		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12783	protein-coding gene	gene with protein product		603490				8168088	Standard	NM_030761		Approved	WNT-4	uc001bfs.4	P56705	OTTHUMG00000002894	ENST00000290167.6:c.792G>A	1.37:g.22446807C>T						WNT4_ENST00000542383.1_Silent_p.P209P	p.P264P	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	5	835	-		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	264					B4DJF9|Q5TZQ0|Q96T81|Q9BXF5|Q9H1J8|Q9UJM2	Silent	SNP	ENST00000290167.6	37	c.792G>A	CCDS223.1																																																																																				0.632	WNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008088.2			5	452	0	0	0	1	0	5	452				
ASTN1	460	broad.mit.edu	37	1	176926840	176926840	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:176926840G>A	ENST00000367654.3	-	11	2096	c.1885C>T	c.(1885-1887)Cgc>Tgc	p.R629C	ASTN1_ENST00000367657.3_Missense_Mutation_p.R621C|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.R621C|ASTN1_ENST00000361833.2_Missense_Mutation_p.R621C	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	629	EGF-like 2.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCCAGCTTGCGATCTGAAATA	0.537																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(1885-1887)Cgc>Tgc		astrotactin 1							85.0	81.0	83.0					1																	176926840		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176926840G>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1885C>T	1.37:g.176926840G>A	ENSP00000356626:p.Arg629Cys					ASTN1_ENST00000424564.2_Missense_Mutation_p.R621C|ASTN1_ENST00000367657.3_Missense_Mutation_p.R621C|ASTN1_ENST00000361833.2_Missense_Mutation_p.R621C|ASTN1_ENST00000281881.3_5'UTR	p.R629C			O14525	ASTN1_HUMAN			11	1898	-			629			EGF-like 2.		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.1885C>T		.	.	.	.	.	.	.	.	.	.	G	32	5.191818	0.94923	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	D;D;T;D	0.87571	-2.27;-2.27;2.64;-2.27	5.58	5.58	0.84498	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.90363	0.6984	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.992;0.992	D	0.91468	0.5194	10	0.87932	D	0	-28.5238	19.1684	0.93567	0.0:0.0:1.0:0.0	.	629;621;621	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	C	621;621;629;621;621	ENSP00000356629:R621C;ENSP00000354536:R621C;ENSP00000356626:R629C;ENSP00000395041:R621C	ENSP00000354536:R621C	R	-	1	0	ASTN1	175193463	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.296000	0.96104	2.618000	0.88619	0.563000	0.77884	CGC		0.537	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		67	171	0	0	0	1	0	67	171				
PRG4	10216	broad.mit.edu	37	1	186276169	186276169	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:186276169C>A	ENST00000445192.2	+	7	1363	c.1318C>A	c.(1318-1320)Ccc>Acc	p.P440T	PRG4_ENST00000367486.3_Missense_Mutation_p.P397T|PRG4_ENST00000367483.4_Missense_Mutation_p.P399T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.P347T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	440	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.P440T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACCCCCAAGAAGCC	0.652																																						ENST00000445192.2																			1	Substitution - Missense(1)	p.P440T(1)	large_intestine(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1318-1320)Ccc>Acc		proteoglycan 4							76.0	84.0	81.0					1																	186276169		2203	4298	6501	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276169C>A	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1318C>A	1.37:g.186276169C>A	ENSP00000399679:p.Pro440Thr					PRG4_ENST00000367483.4_Missense_Mutation_p.P399T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.P397T|PRG4_ENST00000367485.4_Missense_Mutation_p.P347T	p.P440T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1363	+			440			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1318C>A	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	3.055	-0.194511	0.06259	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.05649	3.44;3.51;3.41;3.54	3.56	-3.32	0.04973	.	2.159030	0.03971	U	0.291606	T	0.06826	0.0174	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.13145	0.007;0.007;0.004;0.007	B;B;B;B	0.10450	0.005;0.005;0.002;0.005	T	0.44283	-0.9338	9	.	.	.	.	11.4615	0.50213	0.1053:0.4341:0.4606:0.0	.	306;347;440;399	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	T	397;306;399;347;440	ENSP00000356456:P397T;ENSP00000356453:P399T;ENSP00000356455:P347T;ENSP00000399679:P440T	.	P	+	1	0	PRG4	184542792	.	.	0.000000	0.03702	0.012000	0.07955	.	.	-0.227000	0.09884	-1.583000	0.00853	CCC		0.652	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		7	361	1	0	0.00198382	1	0.00213898	7	361				
SNAPC4	6621	broad.mit.edu	37	9	139272186	139272186	+	Missense_Mutation	SNP	G	G	A	rs372472067		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr9:139272186G>A	ENST00000298532.2	-	21	4461	c.4093C>T	c.(4093-4095)Cgg>Tgg	p.R1365W		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		AACCGCGCCCGCAACAGGAGG	0.726																																						ENST00000298532.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33						c.(4093-4095)Cgg>Tgg		small nuclear RNA activating complex, polypeptide 4, 190kDa			TRP/ARG	0,4390		0,0,2195	21.0	23.0	23.0		4093	1.7	0.0	9		23	2,8586		0,2,4292	no	missense	SNAPC4	NM_003086.2	101	0,2,6487	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	1365/1470	139272186	2,12976	2195	4294	6489	SO:0001583	missense	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139272186G>A	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.4093C>T	9.37:g.139272186G>A	ENSP00000298532:p.Arg1365Trp						p.R1365W	NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	21	4461	-		Myeloproliferative disorder(178;0.0511)	1365			SNAPC2-binding.			Missense_Mutation	SNP	ENST00000298532.2	37	c.4093C>T	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	g	11.34	1.610741	0.28712	0.0	2.33E-4	ENSG00000165684	ENST00000298532	T	0.24908	1.83	4.06	1.66	0.24008	.	0.196559	0.34507	N	0.003920	T	0.19167	0.0460	L	0.40543	1.245	0.09310	N	1	B	0.26081	0.141	B	0.14023	0.01	T	0.15694	-1.0428	10	0.87932	D	0	-13.5129	10.0768	0.42366	0.0:0.0:0.3652:0.6348	.	1365	Q5SXM2	SNPC4_HUMAN	W	1365	ENSP00000298532:R1365W	ENSP00000298532:R1365W	R	-	1	2	SNAPC4	138392007	0.983000	0.35010	0.012000	0.15200	0.005000	0.04900	1.417000	0.34770	0.044000	0.15775	-0.408000	0.06270	CGG		0.726	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		4	123	0	0	0	1	0	4	123				
GADL1	339896	broad.mit.edu	37	3	30875345	30875345	+	Splice_Site	SNP	A	A	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr3:30875345A>T	ENST00000282538.5	-	11	1200	c.1050T>A	c.(1048-1050)tcT>tcA	p.S350S	GADL1_ENST00000454381.3_Splice_Site_p.S350S	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	350					carboxylic acid metabolic process (GO:0019752)		aspartate 1-decarboxylase activity (GO:0004068)|pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						GAAAACTTACAGATTTGTCTT	0.502																																						ENST00000454381.3																			0				breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						c.e11+1		glutamate decarboxylase-like 1	Pyridoxal Phosphate(DB00114)						72.0	68.0	70.0					3																	30875345		2203	4300	6503	SO:0001630	splice_region_variant	339896				carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding	g.chr3:30875345A>T	AK128643	CCDS2649.2	3p23-p22	2009-01-14			ENSG00000144644	ENSG00000144644			27949	protein-coding gene	gene with protein product		615601					Standard	NM_207359		Approved		uc003cep.2	Q6ZQY3	OTTHUMG00000130621	ENST00000282538.5:c.1050+1T>A	3.37:g.30875345A>T						GADL1_ENST00000282538.5_Splice_Site_p.S350_splice	p.S350_splice			Q6ZQY3	GADL1_HUMAN			11	1096	-			350						Splice_Site	SNP	ENST00000282538.5	37	c.1050_splice	CCDS2649.2																																																																																				0.502	GADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253106.2	NM_207359	Silent	32	125	0	0	0	1	0	32	125				
SEPHS2	22928	broad.mit.edu	37	16	30456111	30456111	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr16:30456111G>A	ENST00000478753.2	-	1	1391	c.938C>T	c.(937-939)gCg>gTg	p.A313V	SEPHS2_ENST00000500504.2_Missense_Mutation_p.A313V|SEPHS2_ENST00000542752.1_Missense_Mutation_p.A256V			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	313					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						ATCTGTGGCCGCATGGGCATT	0.448																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)	ENST00000478753.2																			0				breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						c.(937-939)gCg>gTg		selenophosphate synthetase 2							98.0	91.0	93.0					16																	30456111		1944	4143	6087	SO:0001583	missense	22928				selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity	g.chr16:30456111G>A	BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.938C>T	16.37:g.30456111G>A	ENSP00000418669:p.Ala313Val					SEPHS2_ENST00000542752.1_Missense_Mutation_p.A256V|SEPHS2_ENST00000500504.2_Missense_Mutation_p.A313V	p.A313V			Q99611	SPS2_HUMAN			1	1391	-			313					Q9BUQ2	Missense_Mutation	SNP	ENST00000478753.2	37	c.938C>T		.	.	.	.	.	.	.	.	.	.	G	17.53	3.413384	0.62511	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.64991	-0.13;-0.13;-0.13	5.28	5.28	0.74379	AIR synthase-related protein, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.76709	0.4025	H	0.94620	3.56	0.80722	D	1	P;P	0.49090	0.919;0.906	P;B	0.45343	0.477;0.2	D	0.84632	0.0690	10	0.87932	D	0	-10.0941	16.7892	0.85583	0.0:0.0:1.0:0.0	.	313;256	Q99611;F5H8F9	SPS2_HUMAN;.	V	313;256;264;313	ENSP00000418669:A313V;ENSP00000443601:A256V;ENSP00000426234:A313V	ENSP00000390233:A264V	A	-	2	0	SEPHS2	30363612	1.000000	0.71417	0.991000	0.47740	0.267000	0.26476	9.772000	0.98984	2.652000	0.90054	0.655000	0.94253	GCG		0.448	SEPHS2-001	KNOWN	basic|seleno	protein_coding	protein_coding	OTTHUMT00000109640.11	NM_012248		5	357	0	0	0	1	0	5	357				
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTGTGCGCCGGTCTCTCCCA	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM056413|CM920678	TP53	M	rs28934574	c.(844-846)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83.0	71.0	75.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577094G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W	p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	976	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	282		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.844C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		44	82	0	0	0	1	0	44	82				
SLC45A2	51151	broad.mit.edu	37	5	33984521	33984521	+	Silent	SNP	C	C	G			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr5:33984521C>G	ENST00000296589.4	-	1	314	c.168G>C	c.(166-168)gtG>gtC	p.V56V	SLC45A2_ENST00000345083.5_Silent_p.V56V|SLC45A2_ENST00000509381.1_Silent_p.V56V|SLC45A2_ENST00000342059.3_Silent_p.V56V|SLC45A2_ENST00000382102.3_Silent_p.V56V	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	56					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						GGACTGGGGTCACATACGCTG	0.592																																					Ovarian(31;380 859 8490 22203 49048)	ENST00000382102.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(166-168)gtG>gtC		solute carrier family 45, member 2							63.0	52.0	56.0					5																	33984521		2203	4300	6503	SO:0001819	synonymous_variant	51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33984521C>G	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.168G>C	5.37:g.33984521C>G						SLC45A2_ENST00000342059.3_Silent_p.V56V|SLC45A2_ENST00000296589.4_Silent_p.V56V|SLC45A2_ENST00000509381.1_Silent_p.V56V|SLC45A2_ENST00000345083.5_Silent_p.V56V	p.V56V	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN			1	225	-			56					Q6P2P0|Q9BTM3	Silent	SNP	ENST00000296589.4	37	c.168G>C	CCDS3901.1																																																																																				0.592	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		16	52	0	0	0	1	0	16	52				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C	rs368571207		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682																																						ENST00000432432.2																			1	Substitution - Missense(1)	p.E49G(1)	kidney(1)																																																0							g.chr2:95522772T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522772T>C								NR_040113.1						0	255	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.682	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			4	231	0	0	0	1	0	4	231				
PRG4	10216	broad.mit.edu	37	1	186275982	186275982	+	Silent	SNP	C	C	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:186275982C>T	ENST00000445192.2	+	7	1176	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367485.4_Silent_p.T284T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	377	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCCCCAAGGAGC	0.637																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1129-1131)acC>acT		proteoglycan 4							171.0	164.0	166.0					1																	186275982		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186275982C>T	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1131C>T	1.37:g.186275982C>T						PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367485.4_Silent_p.T284T	p.T377T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1176	+			377			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1131C>T	CCDS1369.1																																																																																				0.637	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		11	608	0	0	0	1	0	11	608				
KIR3DL1	3811	broad.mit.edu	37	19	55333120	55333120	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr19:55333120G>A	ENST00000391728.4	+	5	789	c.756G>A	c.(754-756)atG>atA	p.M252I	KIR3DL1_ENST00000402254.2_Missense_Mutation_p.M252I|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.M157I|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.M252I|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.M252I|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.M252I	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	252	Ig-like C2-type 3.				immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CCTATGACATGTACCATCTAT	0.587																																						ENST00000391728.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(754-756)atG>atA		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1							16.0	17.0	16.0					19																	55333120		2087	4000	6087	SO:0001583	missense	3811							g.chr19:55333120G>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.756G>A	19.37:g.55333120G>A	ENSP00000375608:p.Met252Ile					KIR3DL1_ENST00000358178.4_Missense_Mutation_p.M157I|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.M252I|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.M252I|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.M252I|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.M252I	p.M252I	NM_013289.2	NP_037421.2				GBM - Glioblastoma multiforme(193;0.0192)	5	789	+								O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	c.756G>A	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	-	0.425	-0.906123	0.02453	.	.	ENSG00000167633	ENST00000402254;ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14;2.14	1.47	-2.94	0.05581	Immunoglobulin subtype (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	3.298930	0.01900	N	0.039137	T	0.12390	0.0301	N	0.17594	0.5	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.13407	0.009;0.004;0.001;0.009	T	0.25572	-1.0128	10	0.19147	T	0.46	.	5.1298	0.14903	0.0:0.1775:0.4406:0.3819	.	252;157;252;252	Q15702;Q14946;F6QF33;P43629	.;.;.;KI3L1_HUMAN	I	252;252;252;230;252;252;157	ENSP00000384528:M252I;ENSP00000443350:M252I;ENSP00000442355:M252I;ENSP00000375608:M252I;ENSP00000326868:M252I;ENSP00000350901:M157I	ENSP00000326868:M252I	M	+	3	0	KIR3DL1	60024932	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.385000	0.20685	-3.201000	0.00217	-3.594000	0.00028	ATG		0.587	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		55	100	0	0	0	1	0	55	100				
SH2D2A	9047	broad.mit.edu	37	1	156777073	156777073	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:156777073T>G	ENST00000368199.3	-	8	1220	c.1067A>C	c.(1066-1068)cAc>cCc	p.H356P	SH2D2A_ENST00000392306.2_Missense_Mutation_p.H366P|SH2D2A_ENST00000368198.3_Missense_Mutation_p.H338P	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	356	Pro-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGGGGGCTGGTGGGGCAGGGG	0.597																																						ENST00000392306.2																			0				endometrium(1)|large_intestine(2)|lung(15)	18						c.(1096-1098)cAc>cCc		SH2 domain containing 2A							16.0	18.0	17.0					1																	156777073		2201	4299	6500	SO:0001583	missense	9047				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:156777073T>G	AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"""SH2 domain containing"""	10821	protein-coding gene	gene with protein product	"""T lymphocyte specific adaptor protein"", ""T cell specific adapter protein TSAd"", ""T cell specific adpater protein TSAd"""	604514	"""SH2 domain protein 2A"""			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.1067A>C	1.37:g.156777073T>G	ENSP00000357182:p.His356Pro					SH2D2A_ENST00000368198.3_Missense_Mutation_p.H338P|SH2D2A_ENST00000368199.3_Missense_Mutation_p.H356P	p.H366P	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN			8	1236	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		356			Pro-rich.		O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Missense_Mutation	SNP	ENST00000368199.3	37	c.1097A>C	CCDS1159.1	.	.	.	.	.	.	.	.	.	.	T	7.673	0.687372	0.14973	.	.	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	T;T;T	0.57107	0.45;0.42;0.87	4.24	1.63	0.23807	.	2.261830	0.01799	N	0.032797	T	0.21761	0.0524	L	0.27053	0.805	0.09310	N	1	P;B;B	0.35982	0.531;0.396;0.396	B;B;B	0.37833	0.259;0.133;0.094	T	0.18650	-1.0330	10	0.49607	T	0.09	-4.3545	4.3832	0.11304	0.2016:0.0:0.2094:0.5889	.	366;338;356	Q9NP31-2;Q5VZS4;Q9NP31	.;.;SH22A_HUMAN	P	356;338;366	ENSP00000357182:H356P;ENSP00000357181:H338P;ENSP00000376123:H366P	ENSP00000357181:H338P	H	-	2	0	SH2D2A	155043697	0.049000	0.20398	0.024000	0.17045	0.664000	0.39144	0.065000	0.14466	0.745000	0.32763	0.374000	0.22700	CAC		0.597	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975		8	61	0	0	0	1	0	8	61				
OR2G6	391211	broad.mit.edu	37	1	248685733	248685733	+	Silent	SNP	G	G	A	rs531426431	byFrequency	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:248685733G>A	ENST00000343414.4	+	1	818	c.786G>A	c.(784-786)ccG>ccA	p.P262P		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCTTCAACCGGCCAATAGGA	0.448																																						ENST00000343414.4																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(784-786)ccG>ccA		olfactory receptor, family 2, subfamily G, member 6							109.0	111.0	110.0					1																	248685733		2203	4300	6503	SO:0001819	synonymous_variant	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685733G>A		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.786G>A	1.37:g.248685733G>A							p.P262P	NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	818	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	262					B2RP33	Silent	SNP	ENST00000343414.4	37	c.786G>A	CCDS31119.1																																																																																				0.448	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		5	283	0	0	0	1	0	5	283				
LSR	51599	broad.mit.edu	37	19	35753550	35753550	+	Missense_Mutation	SNP	G	G	A	rs540686530		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr19:35753550G>A	ENST00000361790.3	+	5	1036	c.877G>A	c.(877-879)Gtc>Atc	p.V293I	LSR_ENST00000347609.4_Missense_Mutation_p.V256I|LSR_ENST00000354900.3_Missense_Mutation_p.V274I|LSR_ENST00000602122.1_Missense_Mutation_p.V274I|LSR_ENST00000427250.1_Intron|AD000684.2_ENST00000602262.1_RNA|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000360798.3_Intron	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	293	Cys-rich.				embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CTGCTGCTACGTCAGGTGCCC	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		17474	0.0		0.001	False		,,,				2504	0.0					ENST00000602122.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13						c.(820-822)Gtc>Atc		lipolysis stimulated lipoprotein receptor							100.0	80.0	87.0					19																	35753550		2203	4300	6503	SO:0001583	missense	51599				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity	g.chr19:35753550G>A	AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29572	protein-coding gene	gene with protein product	"""lipolysis-stimulated remnant"", ""immunoglobulin-like domain containing receptor 3"""					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.877G>A	19.37:g.35753550G>A	ENSP00000354575:p.Val293Ile					LSR_ENST00000361790.3_Missense_Mutation_p.V293I|LSR_ENST00000354900.3_Missense_Mutation_p.V274I|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000360798.3_Intron|LSR_ENST00000347609.4_Missense_Mutation_p.V256I|LSR_ENST00000427250.1_Intron	p.V274I			Q86X29	LSR_HUMAN	Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		4	1307	+	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		293					A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Missense_Mutation	SNP	ENST00000361790.3	37	c.820G>A	CCDS12450.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.862120	0.71949	.	.	ENSG00000105699	ENST00000361790;ENST00000354900;ENST00000347609	T;T;T	0.57107	0.42;0.42;0.42	4.74	4.74	0.60224	LISCH7 (1);	0.065915	0.64402	D	0.000014	T	0.57286	0.2043	L	0.34521	1.04	0.80722	D	1	D;D;D;P	0.76494	0.999;0.977;0.982;0.84	P;P;P;B	0.61070	0.883;0.525;0.562;0.344	T	0.52155	-0.8613	10	0.27785	T	0.31	-37.3992	15.256	0.73585	0.0:0.0:1.0:0.0	.	256;274;274;293	Q86X29-2;Q86X29-3;E9PHD4;Q86X29	.;.;.;LSR_HUMAN	I	293;274;256	ENSP00000354575:V293I;ENSP00000346976:V274I;ENSP00000262627:V256I	ENSP00000262627:V256I	V	+	1	0	LSR	40445390	1.000000	0.71417	0.946000	0.38457	0.967000	0.64934	4.937000	0.63513	2.448000	0.82819	0.591000	0.81541	GTC		0.627	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2	NM_015925		74	343	0	0	0	1	0	74	343				
ZNF780A	284323	broad.mit.edu	37	19	40581529	40581529	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr19:40581529C>T	ENST00000595687.2	-	6	1029	c.820G>A	c.(820-822)Gta>Ata	p.V274I	ZNF780A_ENST00000340963.5_Missense_Mutation_p.V274I|ZNF780A_ENST00000455521.1_Missense_Mutation_p.V275I|ZNF780A_ENST00000594395.1_Missense_Mutation_p.V275I|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000450241.2_Missense_Mutation_p.V240I	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	274					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(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TATGGTTTTACACCAGAATGA	0.388																																						ENST00000450241.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(718-720)Gta>Ata		zinc finger protein 780A							172.0	176.0	174.0					19																	40581529		2203	4300	6503	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40581529C>T	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.820G>A	19.37:g.40581529C>T	ENSP00000472189:p.Val274Ile					ZNF780A_ENST00000455521.1_Missense_Mutation_p.V275I|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Missense_Mutation_p.V274I|ZNF780A_ENST00000595687.2_Missense_Mutation_p.V274I|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Missense_Mutation_p.V275I	p.V240I			O75290	Z780A_HUMAN			6	1029	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		274					E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.718G>A	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528602	0.64860	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.18810	2.19;2.19	1.92	-0.891	0.10573	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13200	0.0320	N	0.17674	0.51	0.25023	N	0.991324	P;P	0.35684	0.514;0.515	B;B	0.38156	0.216;0.266	T	0.24764	-1.0151	9	0.72032	D	0.01	.	6.0621	0.19844	0.0:0.6973:0.0:0.3027	.	275;274	E9PB48;O75290	.;Z780A_HUMAN	I	274;275;274	ENSP00000400997:V275I;ENSP00000341507:V274I	ENSP00000341507:V274I	V	-	1	0	ZNF780A	45273369	0.000000	0.05858	0.569000	0.28460	0.853000	0.48598	0.808000	0.27154	-0.307000	0.08804	0.305000	0.20034	GTA		0.388	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		8	1077	0	0	0	1	0	8	1077				
SORL1	6653	broad.mit.edu	37	11	121428026	121428026	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr11:121428026G>A	ENST00000260197.7	+	19	2704	c.2575G>A	c.(2575-2577)Gct>Act	p.A859T		NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	859					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTGTCAGGTAGCTAATCCAGA	0.532																																						ENST00000260197.7																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(2575-2577)Gct>Act		sortilin-related receptor, L(DLR class) A repeats containing							161.0	146.0	151.0					11																	121428026		2203	4299	6502	SO:0001583	missense	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121428026G>A	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.2575G>A	11.37:g.121428026G>A	ENSP00000260197:p.Ala859Thr						p.A859T	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	19	2704	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	859					B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.2575G>A	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.994993	0.54041	.	.	ENSG00000137642	ENST00000260197	D	0.91124	-2.79	5.31	5.31	0.75309	Six-bladed beta-propeller, TolB-like (1);	0.334487	0.31519	N	0.007520	D	0.91597	0.7345	M	0.74258	2.255	0.80722	D	1	B	0.27910	0.193	B	0.34536	0.185	D	0.89616	0.3845	10	0.41790	T	0.15	.	18.9779	0.92745	0.0:0.0:1.0:0.0	.	859	Q92673	SORL_HUMAN	T	859	ENSP00000260197:A859T	ENSP00000260197:A859T	A	+	1	0	SORL1	120933236	0.998000	0.40836	0.999000	0.59377	0.998000	0.95712	3.282000	0.51693	2.487000	0.83934	0.655000	0.94253	GCT		0.532	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		76	233	0	0	0	1	0	76	233				
JPH1	56704	broad.mit.edu	37	8	75227310	75227310	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr8:75227310C>T	ENST00000342232.4	-	2	965	c.925G>A	c.(925-927)Gca>Aca	p.A309T		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	309					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			TTGTTATTTGCCCACTCCCCT	0.502																																						ENST00000342232.4																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24						c.(925-927)Gca>Aca		junctophilin 1							132.0	129.0	130.0					8																	75227310		2203	4300	6503	SO:0001583	missense	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75227310C>T	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.925G>A	8.37:g.75227310C>T	ENSP00000344488:p.Ala309Thr						p.A309T	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		2	965	-	Breast(64;0.00576)		309					B2RTZ0	Missense_Mutation	SNP	ENST00000342232.4	37	c.925G>A	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476800	0.63849	.	.	ENSG00000104369	ENST00000342232	T	0.54279	0.58	5.31	4.4	0.53042	.	0.197272	0.45126	D	0.000382	T	0.40498	0.1119	L	0.39633	1.23	0.43662	D	0.996086	P	0.36354	0.549	B	0.33196	0.159	T	0.20107	-1.0285	10	0.24483	T	0.36	.	12.7522	0.57314	0.0:0.6542:0.3458:0.0	.	309	Q9HDC5	JPH1_HUMAN	T	309	ENSP00000344488:A309T	ENSP00000344488:A309T	A	-	1	0	JPH1	75389865	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	3.773000	0.55333	2.749000	0.94314	0.655000	0.94253	GCA		0.502	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			5	456	0	0	0	1	0	5	456				
CACNA1I	8911	broad.mit.edu	37	22	40042649	40042649	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr22:40042649C>T	ENST00000402142.3	+	8	1225	c.1225C>T	c.(1225-1227)Cac>Tac	p.H409Y	CACNA1I_ENST00000401624.1_Missense_Mutation_p.H409Y|CACNA1I_ENST00000400164.3_Missense_Mutation_p.H409Y|CACNA1I_ENST00000404898.1_Missense_Mutation_p.H409Y|CACNA1I_ENST00000336649.4_Missense_Mutation_p.H409Y|CACNA1I_ENST00000407673.1_Missense_Mutation_p.H409Y	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	409					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	GCAACGGGAGCACCGGCTGAT	0.607																																						ENST00000336649.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(1225-1227)Cac>Tac		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						13.0	15.0	14.0					22																	40042649		2102	4229	6331	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40042649C>T	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.1225C>T	22.37:g.40042649C>T	ENSP00000385019:p.His409Tyr					CACNA1I_ENST00000407673.1_Missense_Mutation_p.H409Y|CACNA1I_ENST00000404898.1_Missense_Mutation_p.H409Y|CACNA1I_ENST00000402142.3_Missense_Mutation_p.H409Y|CACNA1I_ENST00000400164.3_Missense_Mutation_p.H409Y|CACNA1I_ENST00000401624.1_Missense_Mutation_p.H409Y	p.H409Y			Q9P0X4	CAC1I_HUMAN			10	1225	+	Melanoma(58;0.0749)		409					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.1225C>T	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.144395	0.37825	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.96885	-4.14;-4.09;-4.13;-4.09;-4.16;-4.06	3.49	3.49	0.39957	.	0.300797	0.30151	U	0.010282	D	0.96725	0.8931	M	0.63843	1.955	0.50813	D	0.999896	P;D;P;D	0.63880	0.919;0.969;0.919;0.993	B;P;B;D	0.72982	0.441;0.792;0.441;0.979	D	0.95148	0.8270	10	0.02654	T	1	.	15.8737	0.79145	0.0:1.0:0.0:0.0	.	409;409;409;409	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	Y	409	ENSP00000385019:H409Y;ENSP00000384093:H409Y;ENSP00000383887:H409Y;ENSP00000385680:H409Y;ENSP00000337829:H409Y;ENSP00000383028:H409Y	ENSP00000337829:H409Y	H	+	1	0	CACNA1I	38372595	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	1.658000	0.37376	1.899000	0.54978	0.305000	0.20034	CAC		0.607	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		6	22	0	0	0	1	0	6	22				
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr2:112608394T>C	ENST00000341068.3	-	14	2381	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.T537A(5)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433																																						ENST00000341068.3																			5	Substitution - Missense(5)	p.T537A(5)	lung(3)|kidney(1)|endometrium(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(1609-1611)Act>Gct		anaphase promoting complex subunit 1							109.0	106.0	107.0					2																	112608394		2203	4300	6503	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112608394T>C	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1609A>G	2.37:g.112608394T>C	ENSP00000339109:p.Thr537Ala						p.T537A	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			14	2381	-			537					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.1609A>G	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.716|4.716	0.133071|0.133071	0.09032|0.09032	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	.|.	.|.	.|.	4.57|4.57	3.37|3.37	0.38596|0.38596	.|.	0.273018|.	0.23039|.	U|.	0.052629|.	T|T	0.55305|0.55305	0.1912|0.1912	L|L	0.45352|0.45352	1.415|1.415	0.37887|0.37887	D|D	0.930579|0.930579	B|.	0.14438|.	0.01|.	B|.	0.18263|.	0.021|.	T|T	0.53535|0.53535	-0.8425|-0.8425	9|5	0.08837|.	T|.	0.75|.	-8.0757|-8.0757	10.3103|10.3103	0.43704|0.43704	0.1479:0.0:0.0:0.8521|0.1479:0.0:0.0:0.8521	.|.	537|.	Q9H1A4|.	APC1_HUMAN|.	A|C	537|71	.|.	ENSP00000339109:T537A|.	T|Y	-|-	1|2	0|0	ANAPC1|ANAPC1	112324865|112324865	1.000000|1.000000	0.71417|0.71417	0.138000|0.138000	0.22173|0.22173	0.127000|0.127000	0.20565|0.20565	3.555000|3.555000	0.53727|0.53727	0.570000|0.570000	0.29347|0.29347	0.369000|0.369000	0.22263|0.22263	ACT|TAC		0.433	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		4	323	0	0	0	1	0	4	323				
TTN	7273	broad.mit.edu	37	2	179453342	179453342	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr2:179453342C>A	ENST00000591111.1	-	254	58411	c.58187G>T	c.(58186-58188)cGt>cTt	p.R19396L	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R12164L|TTN_ENST00000589042.1_Missense_Mutation_p.R21037L|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R18469L|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R12097L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R11972L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19396	Fibronectin type-III 40. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCCTTGACACGGAACTGATA	0.458																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(63109-63111)cGt>cTt		titin							222.0	209.0	213.0					2																	179453342		1913	4127	6040	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179453342C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.58187G>T	2.37:g.179453342C>A	ENSP00000465570:p.Arg19396Leu					TTN_ENST00000342992.6_Missense_Mutation_p.R18469L|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R11972L|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R12097L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R12164L|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R19396L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA	p.R21037L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		304	63334	-			19396			Fibronectin type-III 52.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.63110G>T		.	.	.	.	.	.	.	.	.	.	C	16.26	3.074053	0.55646	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	6.16	6.16	0.99307	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84261	0.5433	H	0.94771	3.58	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.87010	0.2122	9	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	11972;12097;12164;19396	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	18469;11972;12164;12097;11970	ENSP00000343764:R18469L;ENSP00000434586:R11972L;ENSP00000340554:R12164L;ENSP00000352154:R12097L	ENSP00000340554:R12164L	R	-	2	0	TTN	179161588	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.770000	0.85390	2.937000	0.99478	0.650000	0.86243	CGT		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	537	1	0	0.184627	1	0.191576	5	537				
MAP3K12	7786	broad.mit.edu	37	12	53895234	53895234	+	5'Flank	SNP	C	C	T	rs371506572		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr12:53895234C>T	ENST00000267079.2	-	0	0				TARBP2_ENST00000394357.2_5'Flank|TARBP2_ENST00000266987.2_Silent_p.C14C|TARBP2_ENST00000456234.2_Intron|MAP3K12_ENST00000547488.1_5'Flank|RP11-793H13.11_ENST00000602306.1_RNA|TARBP2_ENST00000552857.1_Silent_p.C14C|MAP3K12_ENST00000547151.1_5'Flank	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12						histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CCACGGGCTGCGGGCTGCCTA	0.687																																						ENST00000266987.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						c.(40-42)tgC>tgT		TAR (HIV-1) RNA binding protein 2							29.0	24.0	25.0					12																	53895234		2167	4269	6436	SO:0001631	upstream_gene_variant	6895				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding	g.chr12:53895234C>T	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854		12.37:g.53895234C>T	Exception_encountered					TARBP2_ENST00000552857.1_Silent_p.C14C|TARBP2_ENST00000456234.2_Intron	p.C14C	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN			1	525	+			14					B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Silent	SNP	ENST00000267079.2	37	c.42C>T	CCDS8860.1																																																																																				0.687	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		3	26	0	0	0	1	0	3	26				
LCN9	392399	broad.mit.edu	37	9	138557549	138557549	+	Silent	SNP	C	C	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr9:138557549C>T	ENST00000277526.3	+	5	426	c.426C>T	c.(424-426)tgC>tgT	p.C142C	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	142						extracellular region (GO:0005576)	pheromone binding (GO:0005550)|transporter activity (GO:0005215)			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		AAGAAACCTGCGAAAAGTACG	0.572																																						ENST00000277526.3																			0				kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6						c.(424-426)tgC>tgT		lipocalin 9							44.0	44.0	44.0					9																	138557549		1925	4121	6046	SO:0001819	synonymous_variant	392399					extracellular region	pheromone binding|transporter activity	g.chr9:138557549C>T	AY301270	CCDS56593.1	9q34	2011-11-14			ENSG00000148386	ENSG00000148386		"""Lipocalins"""	17442	protein-coding gene	gene with protein product	"""MUP-like lipocalin"", ""epididymal-specific lipocalin-9"""	612903				15363845	Standard	NM_001001676		Approved		uc004cgk.2	Q8WX39	OTTHUMG00000020916	ENST00000277526.3:c.426C>T	9.37:g.138557549C>T						LCN9_ENST00000430290.2_3'UTR	p.C142C	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)	5	426	+		Myeloproliferative disorder(178;0.0821)	142					C9J5F0|Q6JVE7	Silent	SNP	ENST00000277526.3	37	c.426C>T	CCDS56593.1																																																																																				0.572	LCN9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410711.1	NM_001001676		16	61	0	0	0	1	0	16	61				
CARM1	10498	broad.mit.edu	37	19	11022906	11022906	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr19:11022906C>T	ENST00000327064.4	+	5	795	c.605C>T	c.(604-606)gCc>gTc	p.A202V	CARM1_ENST00000344150.4_Missense_Mutation_p.A202V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	202	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.A202V(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TCGTTTTTTGCCGCCCAAGCT	0.622																																						ENST00000327064.4																			2	Substitution - Missense(2)	p.A202V(2)	lung(2)	breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						c.(604-606)gCc>gTc		coactivator-associated arginine methyltransferase 1							319.0	260.0	280.0					19																	11022906		2203	4300	6503	SO:0001583	missense	10498				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	g.chr19:11022906C>T	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.605C>T	19.37:g.11022906C>T	ENSP00000325690:p.Ala202Val					CARM1_ENST00000344150.4_Missense_Mutation_p.A202V	p.A202V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN			5	795	+			202					A6NN38	Missense_Mutation	SNP	ENST00000327064.4	37	c.605C>T	CCDS12250.1	.	.	.	.	.	.	.	.	.	.	C	31	5.061915	0.93846	.	.	ENSG00000142453	ENST00000327064;ENST00000344150	T;T	0.28666	1.6;1.6	5.67	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.61073	0.2318	H	0.96142	3.775	0.80722	D	1	D	0.57571	0.98	P	0.53809	0.735	T	0.76482	-0.2943	10	0.87932	D	0	-2.6238	14.9481	0.71047	0.1444:0.8556:0.0:0.0	.	202	Q86X55	CARM1_HUMAN	V	202	ENSP00000325690:A202V;ENSP00000340934:A202V	ENSP00000325690:A202V	A	+	2	0	CARM1	10883906	1.000000	0.71417	0.005000	0.12908	0.991000	0.79684	7.335000	0.79234	1.386000	0.46466	0.655000	0.94253	GCC		0.622	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	XM_032719		7	1030	0	0	0	1	0	7	1030				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		11	61	0	0	0	1	0	11	61				
F5	2153	broad.mit.edu	37	1	169510405	169510405	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:169510405C>A	ENST00000367797.3	-	13	4124	c.3923G>T	c.(3922-3924)aGt>aTt	p.S1308I	F5_ENST00000367796.3_Missense_Mutation_p.S1313I	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1308	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GTTTGTCTGACTGAGTTCTGG	0.512																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(3937-3939)aGt>aTt		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						272.0	296.0	288.0					1																	169510405		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510405C>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3923G>T	1.37:g.169510405C>A	ENSP00000356771:p.Ser1308Ile					F5_ENST00000367797.3_Missense_Mutation_p.S1308I	p.S1313I			P12259	FA5_HUMAN			13	4139	-	all_hematologic(923;0.208)		1308			35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.3938G>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864337	0.32977	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.35789	1.29;1.29	3.21	-2.1	0.07210	.	1.723450	0.02512	N	0.091650	T	0.13372	0.0324	L	0.55990	1.75	0.22199	N	0.999294	P	0.45283	0.855	B	0.38327	0.271	T	0.14008	-1.0488	9	0.40728	T	0.16	.	5.0898	0.14702	0.0:0.4556:0.315:0.2294	.	1308	P12259	FA5_HUMAN	I	1308;1313	ENSP00000356771:S1308I;ENSP00000356770:S1313I	ENSP00000356770:S1313I	S	-	2	0	F5	167777029	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.937000	0.00685	-0.282000	0.09128	0.542000	0.68232	AGT		0.512	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		7	1153	1	0	0.000274275	1	0.000297388	7	1153				
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	byFrequency	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	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		15	116	0	0	0	1	0	15	116				
KDM4C	23081	broad.mit.edu	37	9	7174680	7174680	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr9:7174680G>A	ENST00000381309.3	+	22	3687	c.3122G>A	c.(3121-3123)cGc>cAc	p.R1041H	KDM4C_ENST00000428870.2_Missense_Mutation_p.R728H|KDM4C_ENST00000442236.2_Missense_Mutation_p.R786H	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	1041					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						CCTGTATACCGCACTTTTTTG	0.478																																						ENST00000381309.3																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(3121-3123)cGc>cAc		lysine (K)-specific demethylase 4C							157.0	163.0	161.0					9																	7174680		2203	4300	6503	SO:0001583	missense	23081				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:7174680G>A	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.3122G>A	9.37:g.7174680G>A	ENSP00000370710:p.Arg1041His					KDM4C_ENST00000428870.2_Missense_Mutation_p.R728H|KDM4C_ENST00000442236.2_Missense_Mutation_p.R786H	p.R1041H	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN			22	3687	+			1041					B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	ENST00000381309.3	37	c.3122G>A	CCDS6471.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.885379	0.51908	.	.	ENSG00000107077	ENST00000381309;ENST00000442236;ENST00000428870	T;T;T	0.39787	1.06;1.06;1.06	5.69	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.39886	0.1095	N	0.24115	0.695	0.45366	D	0.998358	B;D	0.76494	0.179;0.999	B;P	0.56088	0.019;0.791	T	0.13629	-1.0502	10	0.46703	T	0.11	-13.0573	8.9667	0.35881	0.0737:0.0:0.7773:0.149	.	786;1041	E7EV17;Q9H3R0	.;KDM4C_HUMAN	H	1041;786;728	ENSP00000370710:R1041H;ENSP00000409353:R786H;ENSP00000405739:R728H	ENSP00000370710:R1041H	R	+	2	0	KDM4C	7164680	0.993000	0.37304	1.000000	0.80357	0.875000	0.50365	2.601000	0.46249	2.671000	0.90904	0.591000	0.81541	CGC		0.478	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		5	566	0	0	0	1	0	5	566				
ERVW-1	30816	broad.mit.edu	37	7	92099544	92099544	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr7:92099544G>A	ENST00000493463.2	-	1	1075	c.152C>T	c.(151-153)tCg>tTg	p.S51L	ERVW-1_ENST00000604270.1_Intron|ERVW-1_ENST00000603053.1_Missense_Mutation_p.S51L|AC007566.10_ENST00000427458.1_RNA	NM_014590.3	NP_055405.3	Q9UQF0	SYCY1_HUMAN	endogenous retrovirus group W, member 1	51					anatomical structure morphogenesis (GO:0009653)|syncytium formation (GO:0006949)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral envelope (GO:0019031)				endometrium(1)|large_intestine(1)|lung(15)	17						actcctatacgatggggcatc	0.522																																						ENST00000493463.2																			0				endometrium(1)|large_intestine(1)|lung(15)	17						c.(151-153)tCg>tTg									92.0	101.0	98.0					7																	92099544		2203	4300	6503	SO:0001583	missense	0				syncytium formation	integral to membrane|plasma membrane|virion		g.chr7:92099544G>A	AF208161	CCDS5626.1	7q21.2	2011-06-16	2011-05-05	2011-05-05	ENSG00000242950	ENSG00000242950			13525	other	endogenous retrovirus	"""envelope protein"", ""HERV-W Env glycoprotein"", ""enverin"", ""syncytin-1"", ""HERV-tryptophan envelope protein"", ""HERV-W{7q21.1} provirus ancestral Env polyprotein"", ""HERV-7q envelope protein"", ""envelope glycoprotein"", ""syncytin"""	604659	"""endogenous retroviral family W, env(C7), member 1"""	ERVWE1		9835022, 9882319, 21542922	Standard	NM_001130925		Approved	HERV-W, HERV-W-ENV, HERVW, HERV-7q	uc022ahe.1	Q9UQF0	OTTHUMG00000131249	ENST00000493463.2:c.152C>T	7.37:g.92099544G>A	ENSP00000419945:p.Ser51Leu					ERVW-1_ENST00000604270.1_Intron|ERVW-1_ENST00000603053.1_Missense_Mutation_p.S51L|AC007566.10_ENST00000427458.1_RNA	p.S51L	NM_014590.3	NP_055405.3	Q9UQF0	ENW1_HUMAN			1	1075	-			51					B2RPD4|O95244|O95245|Q8NHY7|Q9NRZ2|Q9NZG3	Missense_Mutation	SNP	ENST00000493463.2	37	c.152C>T	CCDS5626.1	.	.	.	.	.	.	.	.	.	.	G	8.443	0.851191	0.17034	.	.	ENSG00000242950	ENST00000493463	T	0.19806	2.12	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.10508	0.0257	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.30966	-0.9960	6	0.52906	T	0.07	.	.	.	.	.	.	.	.	L	51	ENSP00000419945:S51L	ENSP00000419945:S51L	S	-	2	0	ERVW-1	91937480	0.158000	0.22850	0.082000	0.20525	0.083000	0.17756	0.170000	0.16663	0.132000	0.18615	0.134000	0.15878	TCG		0.522	ERVW-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254009.2	NM_014590		7	587	0	0	0	1	0	7	587				
TROAP	10024	broad.mit.edu	37	12	49724313	49724313	+	Missense_Mutation	SNP	G	G	T	rs199744032		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	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_ENST00000257909.3_Missense_Mutation_p.S562I|TROAP_ENST00000547923.1_Missense_Mutation_p.S270I	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		6	311	1	0	0.217242	1	0.224213	6	311				
ASL	435	broad.mit.edu	37	7	65557066	65557066	+	Missense_Mutation	SNP	G	G	A	rs200853731		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr7:65557066G>A	ENST00000304874.9	+	15	1238	c.1136G>A	c.(1135-1137)cGc>cAc	p.R379H	ASL_ENST00000464970.1_3'UTR|ASL_ENST00000395331.3_Missense_Mutation_p.R359H|AC068533.7_ENST00000450043.1_Silent_p.P147P|ASL_ENST00000380839.4_Missense_Mutation_p.R353H|ASL_ENST00000395332.3_Missense_Mutation_p.R379H	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	379			R -> C (in ARGINSA; dbSNP:rs28940287). {ECO:0000269|PubMed:12408190}.		arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)	p.R379L(1)		breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	TACCTGGTCCGCAAAGGGGTA	0.637																																						ENST00000304874.9																			1	Substitution - Missense(1)	p.R379L(1)	lung(1)	breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18						c.(1135-1137)cGc>cAc		argininosuccinate lyase	L-Arginine(DB00125)						95.0	92.0	93.0					7																	65557066		2203	4300	6503	SO:0001583	missense	435				arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity	g.chr7:65557066G>A		CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.1136G>A	7.37:g.65557066G>A	ENSP00000307188:p.Arg379His					ASL_ENST00000395332.3_Missense_Mutation_p.R379H|ASL_ENST00000464970.1_3'UTR|ASL_ENST00000395331.3_Missense_Mutation_p.R359H|AC068533.7_ENST00000450043.1_Silent_p.P147P|ASL_ENST00000380839.4_Missense_Mutation_p.R353H	p.R379H	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN			15	1238	+			379		R -> C (in ARGINSA; dbSNP:rs28940287).			E7EMI0|E9PE48|Q6LDS5|Q96HS2	Missense_Mutation	SNP	ENST00000304874.9	37	c.1136G>A	CCDS5531.1	.	.	.	.	.	.	.	.	.	.	g	27.0	4.786704	0.90367	.	.	ENSG00000126522	ENST00000304874;ENST00000380839;ENST00000395332;ENST00000395331	D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85	5.5	4.63	0.57726	L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.92909	0.7744	M	0.89601	3.045	0.58432	D	0.999999	P;P;B	0.42871	0.792;0.6;0.445	B;B;B	0.43838	0.433;0.077;0.102	D	0.93527	0.6866	10	0.87932	D	0	.	13.5557	0.61757	0.0753:0.0:0.9247:0.0	.	353;359;379	E9PE48;E7EMI0;P04424	.;.;ARLY_HUMAN	H	379;353;379;359	ENSP00000307188:R379H;ENSP00000370219:R353H;ENSP00000378741:R379H;ENSP00000378740:R359H	ENSP00000307188:R379H	R	+	2	0	ASL	65194501	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.997000	0.63921	1.327000	0.45338	0.491000	0.48974	CGC		0.637	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251695.2	NM_000048		5	472	0	0	0	1	0	5	472				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	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			4	93	0	0	0	1	0	4	93				
DNAH11	8701	broad.mit.edu	37	7	21657266	21657266	+	Silent	SNP	C	C	A	rs570983771		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr7:21657266C>A	ENST00000409508.3	+	23	4156	c.4125C>A	c.(4123-4125)cgC>cgA	p.R1375R	DNAH11_ENST00000328843.6_Silent_p.R1380R	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1380	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGGAAGTCCGCGTCTGGGATG	0.483									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(4138-4140)cgC>cgA		dynein, axonemal, heavy chain 11							54.0	54.0	54.0					7																	21657266		1882	4106	5988	SO:0001819	synonymous_variant	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21657266C>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.4125C>A	7.37:g.21657266C>A						DNAH11_ENST00000409508.3_Silent_p.R1375R	p.R1380R			Q96DT5	DYH11_HUMAN			23	4171	+			1380			Stem (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.4140C>A																																																																																					0.483	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		23	90	1	0	4.7796e-09	1	5.33216e-09	23	90				
PYROXD2	84795	broad.mit.edu	37	10	100155147	100155147	+	Splice_Site	SNP	C	C	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr10:100155147C>A	ENST00000370575.4	-	7	736		c.e7+1		PYROXD2_ENST00000483923.1_Splice_Site|MIR1287_ENST00000408492.1_RNA	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2								oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						GAACCACTCACCTTGGTAATG	0.577																																						ENST00000370575.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						c.e7+1		pyridine nucleotide-disulphide oxidoreductase domain 2							152.0	155.0	154.0					10																	100155147		2203	4300	6503	SO:0001630	splice_region_variant	84795						oxidoreductase activity	g.chr10:100155147C>A	AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 33"""	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.687+1G>T	10.37:g.100155147C>A						PYROXD2_ENST00000483923.1_Splice_Site		NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN			7	736	-								D3DR61|Q5TAA9|Q9BRQ1	Splice_Site	SNP	ENST00000370575.4	37		CCDS7474.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654104	0.67472	.	.	ENSG00000119943	ENST00000370575	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4032	0.87466	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PYROXD2	100145137	1.000000	0.71417	0.993000	0.49108	0.817000	0.46193	3.922000	0.56462	2.386000	0.81285	0.655000	0.94253	.		0.577	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049782.2	NM_032709	Intron	7	858	1	0	1.26484e-09	1	1.42757e-09	7	858				
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs200214744|rs565505867	byFrequency	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662																																						ENST00000391413.2																			4	Substitution - Missense(4)	p.M93V(4)	endometrium(3)|kidney(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(277-279)Atg>Gtg		keratin associated protein 4-11							6.0	10.0	8.0					17																	39274291		651	1556	2207	SO:0001583	missense	653240					keratin filament		g.chr17:39274291T>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.277A>G	17.37:g.39274291T>C	ENSP00000375232:p.Met93Val						p.M93V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	315	-		Breast(137;0.000496)	93			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.277A>G	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	0.073	-1.199029	0.01581	.	.	ENSG00000212721	ENST00000391413	T	0.00580	6.43	4.25	-4.9	0.03094	.	.	.	.	.	T	0.00109	0.0003	N	0.00040	-2.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43097	-0.9412	9	0.02654	T	1	.	0.4739	0.00536	0.3479:0.2455:0.1203:0.2863	.	93	Q9BYQ6	KR411_HUMAN	V	93	ENSP00000375232:M93V	ENSP00000375232:M93V	M	-	1	0	KRTAP4-11	36527817	.	.	0.012000	0.15200	0.010000	0.07245	.	.	-1.319000	0.02286	-1.132000	0.01976	ATG		0.662	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			13	205	0	0	0	1	0	13	205				
WNK1	65125	broad.mit.edu	37	12	977171	977171	+	Intron	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr12:977171G>A	ENST00000315939.6	+	9	2782				WNK1_ENST00000530271.2_Missense_Mutation_p.R845H|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000537687.1_Missense_Mutation_p.R760H|WNK1_ENST00000574564.1_Missense_Mutation_p.R59H|WNK1_ENST00000340908.4_Intron	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1						intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TCCCAGCGGCGTAAGAGCACC	0.517																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(2278-2280)cGt>cAt		WNK lysine deficient protein kinase 1							107.0	109.0	108.0					12																	977171		1932	4138	6070	SO:0001627	intron_variant	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:977171G>A	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2140-3260G>A	12.37:g.977171G>A						WNK1_ENST00000340908.4_Intron|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000574564.1_Missense_Mutation_p.R59H|WNK1_ENST00000530271.2_Missense_Mutation_p.R845H|WNK1_ENST00000535572.1_Intron	p.R760H	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		9	2922	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		763					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.2279G>A	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244765	0.59103	.	.	ENSG00000060237	ENST00000537687;ENST00000530271	T;T	0.13901	2.55;2.55	5.67	5.67	0.87782	.	.	.	.	.	T	0.40956	0.1138	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.07139	-1.0788	8	0.46703	T	0.11	.	19.7725	0.96373	0.0:0.0:1.0:0.0	.	845	F5H2M7	.	H	760;845	ENSP00000444465:R760H;ENSP00000433548:R845H	ENSP00000433548:R845H	R	+	2	0	WNK1	847432	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.673000	0.90976	0.467000	0.42956	CGT		0.517	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		5	362	0	0	0	1	0	5	362				
TMTC2	160335	broad.mit.edu	37	12	83289748	83289748	+	Missense_Mutation	SNP	G	G	A	rs559369404		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr12:83289748G>A	ENST00000321196.3	+	3	1513	c.806G>A	c.(805-807)cGc>cAc	p.R269H	TMTC2_ENST00000549919.1_Missense_Mutation_p.R263H|TMTC2_ENST00000548305.1_Missense_Mutation_p.R269H	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	269					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CTCCTCACCCGCACTCTCACC	0.527													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16768	0.0		0.0	False		,,,				2504	0.0					ENST00000549919.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						c.(787-789)cGc>cAc		transmembrane and tetratricopeptide repeat containing 2							138.0	126.0	130.0					12																	83289748		2203	4300	6503	SO:0001583	missense	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83289748G>A	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.806G>A	12.37:g.83289748G>A	ENSP00000322300:p.Arg269His					TMTC2_ENST00000548305.1_Missense_Mutation_p.R269H|TMTC2_ENST00000321196.3_Missense_Mutation_p.R269H	p.R263H			Q8N394	TMTC2_HUMAN			4	2593	+			269					B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	c.788G>A	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200994	0.79015	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919;ENST00000546590	T;T;T	0.61859	0.07;0.07;0.07	5.84	5.84	0.93424	Domain of unknown function DUF1736 (1);	0.000000	0.85682	D	0.000000	D	0.83959	0.5367	H	0.94658	3.565	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.87587	0.2488	10	0.87932	D	0	-18.4524	20.139	0.98050	0.0:0.0:1.0:0.0	.	269;24;269	Q8N394;F8VRQ2;F8VSH2	TMTC2_HUMAN;.;.	H	269;269;263;24	ENSP00000322300:R269H;ENSP00000448292:R269H;ENSP00000447609:R263H	ENSP00000322300:R269H	R	+	2	0	TMTC2	81813879	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	9.476000	0.97823	2.764000	0.94973	0.655000	0.94253	CGC		0.527	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		6	334	0	0	0	1	0	6	334				
RP11-93K22.13	0	broad.mit.edu	37	3	129811972	129811972	+	lincRNA	SNP	G	G	C			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr3:129811972G>C	ENST00000514010.1	-	0	157				ALG1L2_ENST00000507643.1_RNA																							TTGACGGACAGAACCTTCCTT	0.408																																						ENST00000514010.1																			0																				81.0	64.0	69.0					3																	129811972		692	1591	2283			0							g.chr3:129811972G>C																													3.37:g.129811972G>C						ALG1L2_ENST00000507643.1_RNA								0	157	-									RNA	SNP	ENST00000514010.1	37																																																																																						0.408	RP11-93K22.13-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000358040.1			4	230	0	0	0	1	0	4	230				
APBB1IP	54518	broad.mit.edu	37	10	26785284	26785284	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr10:26785284G>C	ENST00000376236.4	+	4	579	c.124G>C	c.(124-126)Gaa>Caa	p.E42Q	APBB1IP_ENST00000356785.4_Missense_Mutation_p.E42Q	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	42					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						ACCCAGAGCTGAATTTAACTA	0.348																																						ENST00000376236.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						c.(124-126)Gaa>Caa		amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein							93.0	96.0	95.0					10																	26785284		2203	4300	6503	SO:0001583	missense	54518				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		g.chr10:26785284G>C	AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"""Pleckstrin homology (PH) domain containing"""	17379	protein-coding gene	gene with protein product	"""Rap1-GTP-interacting adaptor molecule"""	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.124G>C	10.37:g.26785284G>C	ENSP00000365411:p.Glu42Gln					APBB1IP_ENST00000356785.4_Missense_Mutation_p.E42Q	p.E42Q	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN			4	579	+			42					Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation	SNP	ENST00000376236.4	37	c.124G>C	CCDS31167.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.618637	0.87460	.	.	ENSG00000077420	ENST00000445780;ENST00000376236;ENST00000356785	T	0.35421	1.31	5.87	5.87	0.94306	.	0.086924	0.85682	D	0.000000	T	0.58438	0.2122	L	0.59436	1.845	0.52501	D	0.999951	P;D;D	0.89917	0.822;1.0;1.0	P;D;D	0.74023	0.651;0.946;0.982	T	0.55062	-0.8199	10	0.59425	D	0.04	.	18.7629	0.91860	0.0:0.0:1.0:0.0	.	42;42;42	B4E100;Q7Z5R6;Q8IYL7	.;AB1IP_HUMAN;.	Q	42	ENSP00000365411:E42Q	ENSP00000349237:E42Q	E	+	1	0	APBB1IP	26825290	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	6.107000	0.71517	2.941000	0.99782	0.655000	0.94253	GAA		0.348	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043		4	228	0	0	0	1	0	4	228				
VAMP4	8674	broad.mit.edu	37	1	171679889	171679889	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:171679889C>G	ENST00000236192.7	-	5	616	c.230G>C	c.(229-231)aGa>aCa	p.R77T	VAMP4_ENST00000482519.1_Intron|VAMP4_ENST00000415773.1_Missense_Mutation_p.R76T|VAMP4_ENST00000367740.2_Missense_Mutation_p.R76T	NM_001185127.1|NM_003762.4	NP_001172056.1|NP_003753.2	O75379	VAMP4_HUMAN	vesicle-associated membrane protein 4	77	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				Golgi to plasma membrane protein transport (GO:0043001)|regulation of Golgi to plasma membrane protein transport (GO:0042996)|SNARE complex assembly (GO:0035493)	cell surface (GO:0009986)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|SNARE complex (GO:0031201)|trans-Golgi network (GO:0005802)				large_intestine(4)	4	all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TCTCTCCCCTCTCTCAATTAC	0.323																																						ENST00000236192.7																			0				large_intestine(4)	4						c.(229-231)aGa>aCa		vesicle-associated membrane protein 4							235.0	226.0	229.0					1																	171679889		2203	4299	6502	SO:0001583	missense	8674				vesicle-mediated transport	endosome|Golgi membrane|integral to membrane|lysosome		g.chr1:171679889C>G	AF044310	CCDS1298.1, CCDS53430.1	1q24-q25	2013-02-13			ENSG00000117533	ENSG00000117533		"""Vesicle-associated membrane proteins"""	12645	protein-coding gene	gene with protein product		606909				9553086	Standard	NM_003762		Approved		uc001ghx.2	O75379	OTTHUMG00000034788	ENST00000236192.7:c.230G>C	1.37:g.171679889C>G	ENSP00000236192:p.Arg77Thr					VAMP4_ENST00000482519.1_Intron|VAMP4_ENST00000367740.2_Missense_Mutation_p.R76T|VAMP4_ENST00000415773.1_Missense_Mutation_p.R76T	p.R77T	NM_001185127.1|NM_003762.4	NP_001172056.1|NP_003753.2	O75379	VAMP4_HUMAN			5	616	-	all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		77			v-SNARE coiled-coil homology.		A2IDD8|Q96IY9|Q96J20|Q9UEL7	Missense_Mutation	SNP	ENST00000236192.7	37	c.230G>C	CCDS1298.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302646	0.81136	.	.	ENSG00000117533	ENST00000236192;ENST00000415773;ENST00000367740	T;T;T	0.53423	0.62;0.62;0.62	6.17	5.27	0.74061	Synaptobrevin (4);	0.040870	0.85682	D	0.000000	T	0.72732	0.3497	H	0.95151	3.63	0.80722	D	1	D;D	0.76494	0.994;0.999	D;D	0.72982	0.925;0.979	T	0.82946	-0.0205	10	0.87932	D	0	.	15.2816	0.73790	0.0:0.9327:0.0:0.0673	.	76;77	O75379-2;O75379	.;VAMP4_HUMAN	T	77;76;76	ENSP00000236192:R77T;ENSP00000415627:R76T;ENSP00000356714:R76T	ENSP00000236192:R77T	R	-	2	0	VAMP4	169946512	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.420000	0.73349	1.632000	0.50472	-0.140000	0.14226	AGA		0.323	VAMP4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000304033.2	NM_003762		5	318	0	0	0	1	0	5	318				
CPNE4	131034	broad.mit.edu	37	3	131261421	131261421	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr3:131261421G>A	ENST00000512055.1	-	19	3645	c.1519C>T	c.(1519-1521)Ccc>Tcc	p.P507S	CPNE4_ENST00000512332.1_Missense_Mutation_p.P525S|CPNE4_ENST00000502818.1_Missense_Mutation_p.P525S|CPNE4_ENST00000511604.1_Missense_Mutation_p.P507S|CPNE4_ENST00000429747.1_Missense_Mutation_p.P507S			Q96A23	CPNE4_HUMAN	copine IV	507	VWFA.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TTCCTGAAGGGCACGAACTGG	0.502																																						ENST00000512055.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						c.(1519-1521)Ccc>Tcc		copine IV							128.0	117.0	121.0					3																	131261421		2203	4300	6503	SO:0001583	missense	131034							g.chr3:131261421G>A	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.1519C>T	3.37:g.131261421G>A	ENSP00000421705:p.Pro507Ser					CPNE4_ENST00000429747.1_Missense_Mutation_p.P507S|CPNE4_ENST00000512332.1_Missense_Mutation_p.P525S|CPNE4_ENST00000511604.1_Missense_Mutation_p.P507S|CPNE4_ENST00000502818.1_Missense_Mutation_p.P525S	p.P507S			Q96A23	CPNE4_HUMAN			19	3645	-			507			VWFA.		D3DNC5|Q8TEX1	Missense_Mutation	SNP	ENST00000512055.1	37	c.1519C>T	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496921	0.85069	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.56103	0.49;0.49;0.48;0.49;0.48	5.48	5.48	0.80851	von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	T	0.76779	0.4035	M	0.84433	2.695	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79108	0.991;0.992	T	0.79342	-0.1843	10	0.56958	D	0.05	-17.478	19.3471	0.94367	0.0:0.0:1.0:0.0	.	525;507	Q96A23-2;Q96A23	.;CPNE4_HUMAN	S	507;507;525;507;525	ENSP00000421705:P507S;ENSP00000411904:P507S;ENSP00000424853:P525S;ENSP00000423811:P507S;ENSP00000421646:P525S	ENSP00000411904:P507S	P	-	1	0	CPNE4	132744111	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	9.624000	0.98398	2.566000	0.86566	0.655000	0.94253	CCC		0.502	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808		5	222	0	0	0	1	0	5	222				
OR2Z1	284383	broad.mit.edu	37	19	8841649	8841649	+	Missense_Mutation	SNP	C	C	T	rs199861220	byFrequency	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr19:8841649C>T	ENST00000324060.2	+	1	334	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGACTTTCTGCGGGGAGAAGG	0.552													C|||	2	0.000399361	0.0	0.0014	5008	,	,		20989	0.001		0.0	False		,,,				2504	0.0					ENST00000324060.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(259-261)Cgg>Tgg		olfactory receptor, family 2, subfamily Z, member 1		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	108.0	95.0	100.0		259	3.0	0.0	19		100	0,8600		0,0,4300	no	missense	OR2Z1	NM_001004699.1	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	87/315	8841649	1,13005	2203	4300	6503	SO:0001583	missense	284383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:8841649C>T	AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"""GPCR / Class A : Olfactory receptors"""	15391	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily Z, member 2"""	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.259C>T	19.37:g.8841649C>T	ENSP00000316284:p.Arg87Trp						p.R87W	NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN			1	334	+			87					B9EH50|Q6IFK0|Q96R25	Missense_Mutation	SNP	ENST00000324060.2	37	c.259C>T	CCDS32895.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	2.412	-0.335123	0.05278	2.27E-4	0.0	ENSG00000181733	ENST00000324060	T	0.00406	7.55	4.33	3.05	0.35203	GPCR, rhodopsin-like superfamily (1);	2.610920	0.01162	N	0.006663	T	0.00384	0.0012	L	0.39514	1.22	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.49606	-0.8922	10	0.38643	T	0.18	.	7.9281	0.29887	0.0:0.8369:0.0:0.1631	.	87	Q8NG97	OR2Z1_HUMAN	W	87	ENSP00000316284:R87W	ENSP00000316284:R87W	R	+	1	2	OR2Z1	8702649	0.000000	0.05858	0.009000	0.14445	0.011000	0.07611	-0.537000	0.06128	2.182000	0.69389	0.543000	0.68304	CGG		0.552	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1			5	539	0	0	0	1	0	5	539				
NOS1	4842	broad.mit.edu	37	12	117662845	117662845	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr12:117662845G>A	ENST00000338101.4	-	25	3908	c.3904C>T	c.(3904-3906)Cgg>Tgg	p.R1302W	NOS1_ENST00000317775.6_Missense_Mutation_p.R1268W|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		TCAAATTGCCGCTGTTGCCAG	0.612																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(3802-3804)Cgg>Tgg		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						146.0	159.0	155.0					12																	117662845		1948	4149	6097	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117662845G>A		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.3904C>T	12.37:g.117662845G>A	ENSP00000337459:p.Arg1302Trp					NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.R1302W	p.R1268W	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	25	4487	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1268						Missense_Mutation	SNP	ENST00000338101.4	37	c.3802C>T	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874204	0.72180	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000338101	D;D	0.85258	-1.96;-1.96	4.93	4.0	0.46444	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.000000	0.85682	D	0.000000	D	0.93680	0.7981	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94520	0.7726	10	0.66056	D	0.02	-31.3949	13.4871	0.61373	0.0:0.0:0.731:0.269	.	1268	P29475	NOS1_HUMAN	W	1163;1268;1302	ENSP00000320758:R1268W;ENSP00000337459:R1302W	ENSP00000320758:R1268W	R	-	1	2	NOS1	116147228	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	2.995000	0.49441	2.555000	0.86185	0.561000	0.74099	CGG		0.612	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			188	383	0	0	0	1	0	188	383				
SGCZ	137868	broad.mit.edu	37	8	13947958	13947958	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr8:13947958C>T	ENST00000382080.1	-	8	1648	c.933G>A	c.(931-933)tgG>tgA	p.W311*	SGCZ_ENST00000421524.2_Nonsense_Mutation_p.W264*	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	298					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CACTTCAGCTCCACAGGCAGA	0.498																																						ENST00000382080.1																			0				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47						c.(931-933)tgG>tgA		sarcoglycan, zeta							176.0	164.0	168.0					8																	13947958		2203	4300	6503	SO:0001587	stop_gained	137868				cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		g.chr8:13947958C>T	AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.933G>A	8.37:g.13947958C>T	ENSP00000371512:p.Trp311*					SGCZ_ENST00000421524.2_Nonsense_Mutation_p.W264*	p.W311*	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN		all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)	8	1648	-			298					Q6REU0	Nonsense_Mutation	SNP	ENST00000382080.1	37	c.933G>A	CCDS5992.2	.	.	.	.	.	.	.	.	.	.	C	41	8.963007	0.99018	.	.	ENSG00000185053	ENST00000382080;ENST00000421524	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.39948	D	0.974498	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.7556	0.91832	0.0:1.0:0.0:0.0	.	.	.	.	X	311;264	.	ENSP00000371512:W311X	W	-	3	0	SGCZ	13992329	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.760000	0.94817	0.655000	0.94253	TGG		0.498	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207636.2	NM_139167		76	314	0	0	0	1	0	76	314				
UBE3A	7337	broad.mit.edu	37	15	25616639	25616639	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr15:25616639C>T	ENST00000397954.2	-	4	690	c.691G>A	c.(691-693)Gat>Aat	p.D231N	UBE3A_ENST00000438097.1_Missense_Mutation_p.D208N|UBE3A_ENST00000428984.2_Missense_Mutation_p.D208N|UBE3A_ENST00000232165.3_Missense_Mutation_p.D228N|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Missense_Mutation_p.D208N			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	231					androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		ACAGACACATCATCAGGGCCT	0.408																																						ENST00000232165.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38						c.(682-684)Gat>Aat		ubiquitin protein ligase E3A							174.0	169.0	171.0					15																	25616639		2203	4300	6503	SO:0001583	missense	7337				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr15:25616639C>T	AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.691G>A	15.37:g.25616639C>T	ENSP00000381045:p.Asp231Asn					UBE3A_ENST00000438097.1_Missense_Mutation_p.D208N|UBE3A_ENST00000566215.1_Missense_Mutation_p.D208N|UBE3A_ENST00000397954.2_Missense_Mutation_p.D231N|UBE3A_ENST00000428984.2_Missense_Mutation_p.D208N|SNHG14_ENST00000554726.1_RNA	p.D228N	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)	6	1338	-		all_cancers(20;3.47e-21)|Breast(32;0.00123)	231					A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	37	c.682G>A	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.537624	0.65085	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	5.84	5.84	0.93424	.	0.042996	0.85682	D	0.000000	T	0.15522	0.0374	L	0.27053	0.805	0.58432	D	0.999999	B;B	0.09022	0.0;0.002	B;B	0.09377	0.001;0.004	T	0.07751	-1.0756	10	0.25751	T	0.34	.	20.1466	0.98079	0.0:1.0:0.0:0.0	.	228;231	Q05086-3;Q05086	.;UBE3A_HUMAN	N	228;228;231;208;208	ENSP00000232165:D228N;ENSP00000381045:D231N;ENSP00000411258:D208N;ENSP00000401265:D208N	ENSP00000232165:D228N	D	-	1	0	UBE3A	23167732	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	7.818000	0.86416	2.779000	0.95612	0.591000	0.81541	GAT		0.408	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462		7	540	0	0	0	1	0	7	540				
TRIM10	10107	broad.mit.edu	37	6	30126398	30126398	+	Silent	SNP	C	C	G			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr6:30126398C>G	ENST00000449742.2	-	3	609	c.534G>C	c.(532-534)gtG>gtC	p.V178V	TRIM10_ENST00000376704.3_Silent_p.V178V	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	178					erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			ovary(1)	1						TCTTGGTGGACACCTGAGTCT	0.537																																						ENST00000449742.2																			0				ovary(1)	1						c.(532-534)gtG>gtC		tripartite motif containing 10							162.0	174.0	170.0					6																	30126398		1511	2709	4220	SO:0001819	synonymous_variant	10107					cytoplasm	zinc ion binding	g.chr6:30126398C>G	Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10072	protein-coding gene	gene with protein product		605701	"""tripartite motif-containing 10"""	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.534G>C	6.37:g.30126398C>G						TRIM10_ENST00000376704.3_Silent_p.V178V	p.V178V	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN			3	609	-			178					A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Silent	SNP	ENST00000449742.2	37	c.534G>C	CCDS34375.1																																																																																				0.537	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1			5	344	0	0	0	1	0	5	344				
LTBP4	8425	broad.mit.edu	37	19	41123123	41123123	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr19:41123123C>G	ENST00000308370.7	+	25	3261	c.3261C>G	c.(3259-3261)caC>caG	p.H1087Q	LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.H1020Q|LTBP4_ENST00000545697.1_Intron|LTBP4_ENST00000204005.9_Missense_Mutation_p.H1050Q|LTBP4_ENST00000243562.9_Missense_Mutation_p.H141Q	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1088	Cys-rich.|EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATGGGCGTCACTGCGTGGGTA	0.622																																						ENST00000308370.7																			0				central_nervous_system(1)	1						c.(3259-3261)caC>caG		latent transforming growth factor beta binding protein 4							26.0	27.0	27.0					19																	41123123		1980	4153	6133	SO:0001583	missense	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41123123C>G	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.3261C>G	19.37:g.41123123C>G	ENSP00000311905:p.His1087Gln					LTBP4_ENST00000545697.1_Intron|LTBP4_ENST00000204005.9_Missense_Mutation_p.H1050Q|LTBP4_ENST00000396819.3_Missense_Mutation_p.H1020Q|LTBP4_ENST00000243562.9_Missense_Mutation_p.H141Q|LTBP4_ENST00000602240.1_3'UTR	p.H1087Q	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		25	3261	+			1088			Cys-rich.|EGF-like 12; calcium-binding (Potential).		O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37	c.3261C>G		.	.	.	.	.	.	.	.	.	.	C	16.00	2.999789	0.54147	.	.	ENSG00000090006	ENST00000204005;ENST00000308370;ENST00000396819;ENST00000243562	D;D;D;D	0.91631	-2.19;-2.88;-2.19;-2.88	4.19	4.19	0.49359	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.42420	D	0.000715	D	0.94138	0.8120	.	.	.	0.80722	D	1	D;D;D	0.89917	0.995;1.0;1.0	D;D;D	0.87578	0.993;0.998;0.998	D	0.91644	0.5329	9	0.13470	T	0.59	.	15.8101	0.78552	0.0:1.0:0.0:0.0	.	1020;1088;1050	E7EUU1;Q8N2S1;E7ENG9	.;LTBP4_HUMAN;.	Q	1050;1087;1020;141	ENSP00000204005:H1050Q;ENSP00000311905:H1087Q;ENSP00000380031:H1020Q;ENSP00000243562:H141Q	ENSP00000204005:H1050Q	H	+	3	2	LTBP4	45814963	0.611000	0.26992	1.000000	0.80357	0.994000	0.84299	-0.142000	0.10311	2.330000	0.79161	0.563000	0.77884	CAC		0.622	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		22	159	0	0	0	1	0	22	159				
GRID1	2894	broad.mit.edu	37	10	87407024	87407024	+	Missense_Mutation	SNP	G	G	A	rs377669879		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr10:87407024G>A	ENST00000327946.7	-	13	2213	c.2128C>T	c.(2128-2130)Cgg>Tgg	p.R710W	RN7SKP238_ENST00000516483.1_RNA|RP11-93H12.4_ENST00000474115.2_RNA|GRID1_ENST00000536331.1_Missense_Mutation_p.R281W	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	710					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CTGATGGTCCGCCAGAGTTCA	0.572										Multiple Myeloma(13;0.14)			G|||	1	0.000199681	0.0	0.0	5008	,	,		20898	0.0		0.0	False		,,,				2504	0.001					ENST00000327946.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(2128-2130)Cgg>Tgg		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)	G	TRP/ARG	0,4406		0,0,2203	257.0	236.0	243.0		2128	-5.4	0.9	10		243	2,8598	2.2+/-6.3	0,2,4298	no	missense	GRID1	NM_017551.2	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	710/1010	87407024	2,13004	2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87407024G>A	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2128C>T	10.37:g.87407024G>A	ENSP00000330148:p.Arg710Trp	Multiple Myeloma(13;0.14)				GRID1_ENST00000536331.1_Missense_Mutation_p.R281W|RP11-93H12.4_ENST00000474115.2_RNA	p.R710W	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN			13	2213	-			710					B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.2128C>T	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182564	0.78677	0.0	2.33E-4	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.26957	1.7;1.7	5.7	-5.39	0.02664	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.143577	0.64402	D	0.000010	T	0.40196	0.1107	M	0.85777	2.775	0.80722	D	1	D	0.57899	0.981	P	0.49887	0.625	T	0.61898	-0.6968	10	0.72032	D	0.01	.	19.1965	0.93691	0.0:0.0:0.6216:0.3784	.	710	Q9ULK0	GRID1_HUMAN	W	710;281	ENSP00000330148:R710W;ENSP00000444455:R281W	ENSP00000330148:R710W	R	-	1	2	GRID1	87397004	1.000000	0.71417	0.902000	0.35471	0.939000	0.58152	1.430000	0.34914	-1.166000	0.02783	-0.271000	0.10264	CGG		0.572	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		7	1057	0	0	0	1	0	7	1057				
FYCO1	79443	broad.mit.edu	37	3	46009639	46009639	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr3:46009639G>A	ENST00000296137.2	-	8	1392	c.1187C>T	c.(1186-1188)gCg>gTg	p.A396V	FYCO1_ENST00000535325.1_Missense_Mutation_p.A396V	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	396					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTCCTGGGCCGCATCACTGGG	0.567																																						ENST00000296137.2																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(1186-1188)gCg>gTg		FYVE and coiled-coil domain containing 1							164.0	166.0	166.0					3																	46009639		2203	4300	6503	SO:0001583	missense	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46009639G>A	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.1187C>T	3.37:g.46009639G>A	ENSP00000296137:p.Ala396Val					FYCO1_ENST00000535325.1_Missense_Mutation_p.A396V	p.A396V	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	8	1392	-			396					B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	c.1187C>T	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	G	3.099	-0.185135	0.06340	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.21191	2.02;2.03	4.72	3.29	0.37713	.	0.235442	0.37136	N	0.002234	T	0.09024	0.0223	N	0.03608	-0.345	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.25363	-1.0134	10	0.38643	T	0.18	-0.0765	9.3123	0.37912	0.1481:0.0:0.8519:0.0	.	396;396	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	V	396	ENSP00000296137:A396V;ENSP00000441178:A396V	ENSP00000296137:A396V	A	-	2	0	FYCO1	45984643	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	1.032000	0.30178	0.815000	0.34398	0.655000	0.94253	GCG		0.567	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		7	817	0	0	0	1	0	7	817				
ZNF878	729747	broad.mit.edu	37	19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr19:12155673A>C	ENST00000547628.1	-	4	680	c.543T>G	c.(541-543)agT>agG	p.S181R	ZNF878_ENST00000602107.1_Missense_Mutation_p.S228R|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAAACTGAATGCTT	0.403																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(682-684)agT>agG		zinc finger protein 878							189.0	199.0	196.0					19																	12155673		2112	4260	6372	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155673A>C		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.543T>G	19.37:g.12155673A>C	ENSP00000447931:p.Ser181Arg					CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R|CTD-2006C1.10_ENST00000547473.1_Intron	p.S228R			C9JN71	ZN878_HUMAN			5	683	-			181						Missense_Mutation	SNP	ENST00000547628.1	37	c.684T>G	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	a	0	-2.730166	0.00089	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.07216	3.21	1.24	-2.47	0.06442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03871	0.0109	N	0.12831	0.26	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.39231	-0.9624	9	0.21540	T	0.41	.	5.2308	0.15420	0.5561:0.2971:0.0:0.1468	.	181	C9JN71	ZN878_HUMAN	R	181;228	ENSP00000447931:S181R	ENSP00000447931:S181R	S	-	3	2	AC022415.4;ZNF878	12016673	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.404000	0.07205	-2.785000	0.00359	-2.885000	0.00097	AGT		0.403	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		5	638	0	0	0	1	0	5	638				
KRTAP5-1	387264	broad.mit.edu	37	11	1606231	1606231	+	Silent	SNP	T	T	C			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr11:1606231T>C	ENST00000382171.2	-	1	282	c.249A>G	c.(247-249)ggA>ggG	p.G83G	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	83	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		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)		CCTTGCAGCCTCCACAGGAGC	0.672																																						ENST00000382171.2																			0				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16						c.(247-249)ggA>ggG		keratin associated protein 5-1																																				SO:0001819	synonymous_variant	387264					keratin filament		g.chr11:1606231T>C	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"""Keratin associated proteins"""	23596	protein-coding gene	gene with protein product		148022	"""keratin, cuticle, ultrahigh sulphur 1-like"""	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.249A>G	11.37:g.1606231T>C						KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	p.G83G	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	282	-		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)	83			8 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000382171.2	37	c.249A>G	CCDS31330.1																																																																																				0.672	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		11	611	0	0	0	1	0	11	611				
AGAP10	728127	broad.mit.edu	37	10	47207828	47207828	+	Missense_Mutation	SNP	C	C	A	rs587691689	byFrequency	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr10:47207828C>A	ENST00000452145.2	-	4	491	c.380G>T	c.(379-381)aGc>aTc	p.S127I	AGAP10_ENST00000355232.3_Missense_Mutation_p.S152I|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000413193.2_Missense_Mutation_p.S223I			Q5T2P9	AGA10_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 10	127					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.S223I(4)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TGTACAGTTGCTTCTTCTTAT	0.264													c|||	4	0.000798722	0.0	0.0	5008	,	,		10150	0.0		0.0	False		,,,				2504	0.0041					ENST00000355232.3																			4	Substitution - Missense(4)	p.S223I(4)	lung(2)|kidney(2)	endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						c.(454-456)aGc>aTc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 10																																				SO:0001583	missense	728127							g.chr10:47207828C>A	BC075841		10q11.22	2013-01-11	2008-09-22	2008-09-22	ENSG00000204172	ENSG00000204172		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23462	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 7"""	CTGLF7			Standard	XM_006709937		Approved	bA144G6.2		Q5T2P9	OTTHUMG00000018115	ENST00000452145.2:c.380G>T	10.37:g.47207828C>A	ENSP00000392206:p.Ser127Ile					AGAP10_ENST00000452145.2_Missense_Mutation_p.S127I|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000413193.2_Missense_Mutation_p.S223I	p.S152I							5	3467	-									Missense_Mutation	SNP	ENST00000452145.2	37	c.455G>T		.	.	.	.	.	.	.	.	.	.	c	8.454	0.853638	0.17106	.	.	ENSG00000204172	ENST00000452145;ENST00000413193;ENST00000355232	D;D;D	0.88818	-2.37;-2.43;-2.37	1.4	1.4	0.22301	.	0.201708	0.42821	D	0.000652	T	0.81009	0.4734	.	.	.	0.20873	N	0.999835	B	0.30068	0.267	B	0.22386	0.039	T	0.74725	-0.3568	9	0.87932	D	0	.	8.772	0.34737	0.0:1.0:0.0:0.0	.	127	Q5T2P9	AGA10_HUMAN	I	127;223;152	ENSP00000392206:S127I;ENSP00000407436:S223I;ENSP00000347372:S152I	ENSP00000347372:S152I	S	-	2	0	AGAP10	46627834	1.000000	0.71417	0.998000	0.56505	0.273000	0.26683	1.432000	0.34936	1.086000	0.41228	0.194000	0.17425	AGC		0.264	AGAP10-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000047845.2	XM_001714786.2		5	169	1	0	1.12685e-05	1	1.24276e-05	5	169				
LPAR3	23566	broad.mit.edu	37	1	85279562	85279562	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:85279562G>C	ENST00000440886.1	-	2	1067	c.1029C>G	c.(1027-1029)agC>agG	p.S343R	LPAR3_ENST00000491034.1_5'Flank|LPAR3_ENST00000370611.3_Missense_Mutation_p.S343R			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	343					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						CTGCACCTTGGCTAATACTAT	0.532																																						ENST00000440886.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						c.(1027-1029)agC>agG		lysophosphatidic acid receptor 3							100.0	91.0	94.0					1																	85279562		2203	4300	6503	SO:0001583	missense	23566				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		g.chr1:85279562G>C	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	14298	protein-coding gene	gene with protein product		605106	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"""	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.1029C>G	1.37:g.85279562G>C	ENSP00000395389:p.Ser343Arg					LPAR3_ENST00000370611.3_Missense_Mutation_p.S343R	p.S343R			Q9UBY5	LPAR3_HUMAN			2	1067	-			343					A0AVA3	Missense_Mutation	SNP	ENST00000440886.1	37	c.1029C>G	CCDS700.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.465648	0.26335	.	.	ENSG00000171517	ENST00000440886;ENST00000370611	T;T	0.74421	-0.84;-0.84	5.85	3.99	0.46301	.	0.513877	0.21711	N	0.070278	T	0.35422	0.0931	N	0.14661	0.345	0.36935	D	0.892083	B	0.19583	0.037	B	0.14023	0.01	T	0.10451	-1.0629	10	0.21540	T	0.41	.	9.1901	0.37193	0.2425:0.0:0.7575:0.0	.	343	Q9UBY5	LPAR3_HUMAN	R	343	ENSP00000395389:S343R;ENSP00000359643:S343R	ENSP00000359643:S343R	S	-	3	2	LPAR3	85052150	1.000000	0.71417	0.087000	0.20705	0.257000	0.26127	1.974000	0.40559	0.824000	0.34613	0.650000	0.86243	AGC		0.532	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152		4	122	0	0	0	1	0	4	122				
KRT5	3852	broad.mit.edu	37	12	52910448	52910448	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr12:52910448C>T	ENST00000252242.4	-	7	1802	c.1412G>A	c.(1411-1413)cGc>cAc	p.R471H		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	471	Coil 2.|Rod.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CAGCAGCTTGCGGTAAGTGGC	0.582																																						ENST00000252242.4																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35						c.(1411-1413)cGc>cAc		keratin 5							123.0	110.0	114.0					12																	52910448		2203	4300	6503	SO:0001583	missense	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52910448C>T		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.1412G>A	12.37:g.52910448C>T	ENSP00000252242:p.Arg471His						p.R471H	NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	7	1802	-			471			Coil 2.|Rod.		Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	ENST00000252242.4	37	c.1412G>A	CCDS8830.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.959666	0.92791	.	.	ENSG00000186081	ENST00000252242;ENST00000456000	D	0.94687	-3.49	5.93	5.93	0.95920	Filament (1);Intermediate filament protein, conserved site (1);	0.000000	0.52532	D	0.000069	D	0.97977	0.9334	H	0.95224	3.64	0.46044	D	0.998833	D	0.89917	1.0	D	0.80764	0.994	D	0.98525	1.0625	10	0.87932	D	0	.	13.5241	0.61584	0.0:0.9291:0.0:0.0709	.	471	P13647	K2C5_HUMAN	H	471;436	ENSP00000252242:R471H	ENSP00000252242:R471H	R	-	2	0	KRT5	51196715	0.995000	0.38212	0.563000	0.28383	0.926000	0.56050	7.743000	0.85020	2.805000	0.96524	0.655000	0.94253	CGC		0.582	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			5	441	0	0	0	1	0	5	441				
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C	rs371810308	byFrequency	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284													.|||	3	0.000599042	0.0	0.0	5008	,	,		16953	0.003		0.0	False		,,,				2504	0.0					ENST00000358970.5																			2	Substitution - Missense(2)	p.K507E(2)	urinary_tract(1)|prostate(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1519-1521)Aaa>Gaa		POTE ankyrin domain family, member C							164.0	115.0	130.0					18																	14513675		692	1590	2282	SO:0001583	missense	388468							g.chr18:14513675T>C	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1519A>G	18.37:g.14513675T>C	ENSP00000351856:p.Lys507Glu						p.K507E	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1518	-			507						Missense_Mutation	SNP	ENST00000358970.5	37	c.1519A>G	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.812128	0.00004	.	.	ENSG00000183206	ENST00000358970	T	0.32753	1.44	1.53	-3.07	0.05363	.	.	.	.	.	T	0.10165	0.0249	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31752	-0.9932	9	0.02654	T	1	.	3.0168	0.06063	0.0:0.3604:0.2511:0.3885	.	507	B2RU33	POTEC_HUMAN	E	507	ENSP00000351856:K507E	ENSP00000351856:K507E	K	-	1	0	POTEC	14503675	0.024000	0.19004	0.012000	0.15200	0.024000	0.10985	-0.021000	0.12504	-1.054000	0.03214	-3.018000	0.00074	AAA		0.284	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		4	134	0	0	0	1	0	4	134				
DSP	1832	broad.mit.edu	37	6	7562904	7562904	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr6:7562904C>A	ENST00000379802.3	+	5	958	c.617C>A	c.(616-618)gCc>gAc	p.A206D	DSP_ENST00000418664.2_Missense_Mutation_p.A206D	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	206	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GACATGGTGGCCTGGGGTGTG	0.562																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(616-618)gCc>gAc		desmoplakin							174.0	179.0	178.0					6																	7562904		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7562904C>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.617C>A	6.37:g.7562904C>A	ENSP00000369129:p.Ala206Asp					DSP_ENST00000418664.2_Missense_Mutation_p.A206D	p.A206D	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	5	958	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	206			Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.617C>A	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	9.342	1.063244	0.19987	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	D;D	0.92348	-3.02;-3.02	5.76	1.83	0.25207	.	0.832458	0.10584	N	0.657572	T	0.56819	0.2011	N	0.01493	-0.835	0.22779	N	0.998745	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.54814	-0.8237	10	0.30854	T	0.27	.	3.0265	0.06092	0.2679:0.4835:0.0969:0.1517	.	253;206	Q4LE79;P15924	.;DESP_HUMAN	D	206;206;11	ENSP00000369129:A206D;ENSP00000396591:A206D	ENSP00000369129:A206D	A	+	2	0	DSP	7507903	0.998000	0.40836	0.992000	0.48379	0.263000	0.26337	1.255000	0.32909	0.781000	0.33589	-0.136000	0.14681	GCC		0.562	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		5	408	1	0	1	1	1	5	408				
RFPL1	5988	broad.mit.edu	37	22	29835118	29835118	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr22:29835118T>A	ENST00000354373.2	+	1	547	c.338T>A	c.(337-339)aTt>aAt	p.I113N	RFPL1S_ENST00000461286.3_RNA|RFPL1S_ENST00000539579.1_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	113	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						CTGAAGAAGATTCTGCAGATG	0.512																																						ENST00000354373.2																			0				endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						c.(337-339)aTt>aAt		ret finger protein-like 1							127.0	121.0	123.0					22																	29835118		2203	4300	6503	SO:0001583	missense	5988						zinc ion binding	g.chr22:29835118T>A	AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"""RING-type (C3HC4) zinc fingers"""	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.338T>A	22.37:g.29835118T>A	ENSP00000346342:p.Ile113Asn					RFPL1S_ENST00000461286.2_RNA	p.I113N	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN			1	547	+			113			B30.2/SPRY.		Q6IC06|Q9UJ97	Missense_Mutation	SNP	ENST00000354373.2	37	c.338T>A	CCDS13857.2	.	.	.	.	.	.	.	.	.	.	-	12.72	2.023419	0.35701	.	.	ENSG00000128250	ENST00000354373	T	0.30448	1.53	1.66	-1.88	0.07713	RDM domain, Ret finger protein-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.37705	0.1013	L	0.52573	1.65	0.09310	N	1	D	0.59767	0.986	D	0.69307	0.963	T	0.24333	-1.0163	9	0.37606	T	0.19	.	2.2276	0.03988	0.0:0.235:0.315:0.45	.	113	O75677	RFPL1_HUMAN	N	113	ENSP00000346342:I113N	ENSP00000346342:I113N	I	+	2	0	RFPL1	28165118	0.004000	0.15560	0.004000	0.12327	0.209000	0.24338	-0.522000	0.06237	-0.097000	0.12307	0.342000	0.21767	ATT		0.512	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	NM_021026		6	440	0	0	0	1	0	6	440				
PTPRF	5792	broad.mit.edu	37	1	44071946	44071948	+	In_Frame_Del	DEL	GCG	GCG	-	rs549143666|rs377569778	byFrequency	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:44071946_44071948delGCG	ENST00000359947.4	+	20	3859_3861	c.3519_3521delGCG	c.(3517-3522)cagcgg>cag	p.R1178del	PTPRF_ENST00000438120.1_In_Frame_Del_p.R1169del|PTPRF_ENST00000422171.2_In_Frame_Del_p.R526del|PTPRF_ENST00000372413.3_In_Frame_Del_p.R1169del|PTPRF_ENST00000372414.3_In_Frame_Del_p.R1178del|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1178					cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGAGGAGCAGCGGCGGCGGCGG	0.631																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(3517-3522)cag>ca		protein tyrosine phosphatase, receptor type, F																																				SO:0001651	inframe_deletion	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44071946_44071948delGCG	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3519_3521delGCG	1.37:g.44071955_44071957delGCG	ENSP00000353030:p.Arg1178del					PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del|PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del|PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del	p.QR1173del	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			20	3859_3861	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1173					D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	In_Frame_Del	DEL	ENST00000359947.4	37	c.3519_3521delGCG	CCDS489.2																																																																																				0.631	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			8	424						8	424	---	---	---	---
RP11-782C8.1	0	broad.mit.edu	37	1	143217265	143217266	+	lincRNA	INS	-	-	A	rs200536781		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:143217265_143217266insA	ENST00000438000.1	+	0	59																											GTTAGTAAAGCAAAAAAAAAAC	0.282																																						ENST00000438000.1																			0																																																			0							g.chr1:143217265_143217266insA																													1.37:g.143217275_143217275dupA														0	59	+									RNA	INS	ENST00000438000.1	37																																																																																						0.282	RP11-782C8.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037560.1			7	34						7	34	---	---	---	---
LMX1A	4009	broad.mit.edu	37	1	165177332	165177334	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:165177332_165177334delTGC	ENST00000342310.3	-	7	1165_1167	c.783_785delGCA	c.(781-786)cagcaa>caa	p.261_262QQ>Q	RP11-38C18.2_ENST00000457106.1_RNA|LMX1A_ENST00000294816.2_In_Frame_Del_p.261_262QQ>Q|LMX1A_ENST00000367893.4_In_Frame_Del_p.261_262QQ>Q|LMX1A_ENST00000489443.2_5'UTR	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	261	Gln-rich.|Poly-Gln.				axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CTGCTGATCTTGCTGCTGCTGCT	0.567																																						ENST00000342310.3																			0				NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35						c.(781-786)caa>ca		LIM homeobox transcription factor 1, alpha																																				SO:0001651	inframe_deletion	4009					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:165177332_165177334delTGC	AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"""Homeoboxes / LIM class"""	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.783_785delGCA	1.37:g.165177341_165177343delTGC	ENSP00000340226:p.Gln262del					LMX1A_ENST00000367893.4_In_Frame_Del_p.QQ261del|LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000294816.2_In_Frame_Del_p.QQ261del	p.QQ261del	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN			7	1165_1167	-	all_hematologic(923;0.248)		261			Gln-rich.|Poly-Gln.		B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	In_Frame_Del	DEL	ENST00000342310.3	37	c.783_785delGCA	CCDS1247.1																																																																																				0.567	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	NM_177398		7	181						7	181	---	---	---	---
GPR25	2848	broad.mit.edu	37	1	200842776	200842778	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:200842776_200842778delTGC	ENST00000304244.2	+	1	694_696	c.611_613delTGC	c.(610-615)ttgctg>ttg	p.204_205LL>L		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	204	Poly-Leu.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						GGCCTCAGCTTGCTGCTGCTGCT	0.724																																						ENST00000304244.2																			0				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						c.(610-615)ttg>t		G protein-coupled receptor 25				110,4002		8,94,1954						2.2	1.0			14	235,7753		17,201,3776	no	coding	GPR25	NM_005298.2		25,295,5730	A1A1,A1R,RR		2.9419,2.6751,2.8512				345,11755				SO:0001651	inframe_deletion	2848					integral to plasma membrane		g.chr1:200842776_200842778delTGC	U91939	CCDS1405.1	1q32.1	2012-08-21			ENSG00000170128	ENSG00000170128		"""GPCR / Class A : Orphans"""	4480	protein-coding gene	gene with protein product		602174				9020062	Standard	NM_005298		Approved		uc001gvn.2	O00155	OTTHUMG00000035788	ENST00000304244.2:c.611_613delTGC	1.37:g.200842785_200842787delTGC	ENSP00000301917:p.Leu209del						p.LL208del	NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN			1	694_696	+			208			Poly-Leu.		A0AVJ5	In_Frame_Del	DEL	ENST00000304244.2	37	c.611_613delTGC	CCDS1405.1																																																																																				0.724	GPR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087056.1	NM_005298		7	134						7	134	---	---	---	---
ACBD3	64746	broad.mit.edu	37	1	226352490	226352491	+	Splice_Site	INS	-	-	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:226352490_226352491insT	ENST00000366812.5	-	3	622_623	c.568_569insA	c.(568-570)agg>aAgg	p.R190fs		NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	190	Glu-rich.				steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		CAAACTTCACCTTTTTTTTTCT	0.411																																						ENST00000366812.5																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20						c.e3+1		acyl-CoA binding domain containing 3																																				SO:0001630	splice_region_variant	64746				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding	g.chr1:226352490_226352491insT	AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"""A-kinase anchor proteins"""	15453	protein-coding gene	gene with protein product	"""PBR- and PKA-associated protein 7"""	606809	"""golgi complex associated protein 1, 60kDa"", ""acyl-Coenzyme A binding domain containing 3"""	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.569+1->A	1.37:g.226352499_226352499dupT							p.E190_splice	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN		GBM - Glioblastoma multiforme(131;0.121)	3	622_623	-	Breast(184;0.158)		190			Glu-rich.		B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Splice_Site	INS	ENST00000366812.5	37	c.569_splice	CCDS1551.1																																																																																				0.411	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091528.1	NM_022735	Frame_Shift_Ins	8	238						8	238	---	---	---	---
POMC	5443	broad.mit.edu	37	2	25384456	25384457	+	In_Frame_Ins	INS	-	-	GCCGCTGCT	rs10654394	byFrequency	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr2:25384456_25384457insGCCGCTGCT	ENST00000405623.1	-	3	752_753	c.297_298insAGCAGCGGC	c.(295-300)ggcgca>ggcAGCAGCGGCgca	p.98_99insGSS	POMC_ENST00000380794.1_In_Frame_Ins_p.98_99insGSS|RP11-509E16.1_ENST00000567599.1_lincRNA|POMC_ENST00000395826.2_In_Frame_Ins_p.98_99insGSS|POMC_ENST00000264708.3_In_Frame_Ins_p.98_99insGSS			P01189	COLI_HUMAN	proopiomelanocortin	98			Missing. {ECO:0000269|PubMed:11244459, ECO:0000269|PubMed:7828531, ECO:0000269|PubMed:9768693}.		cell-cell signaling (GO:0007267)|cellular pigmentation (GO:0033059)|cellular protein metabolic process (GO:0044267)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|negative regulation of tumor necrosis factor production (GO:0032720)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of appetite (GO:0032098)|regulation of blood pressure (GO:0008217)|regulation of corticosterone secretion (GO:2000852)|regulation of glycogen metabolic process (GO:0070873)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|peroxisomal matrix (GO:0005782)|secretory granule (GO:0030141)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|hormone activity (GO:0005179)|receptor binding (GO:0005102)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Loperamide(DB00836)	TTCTGCCCTGCgccgctgctgc	0.728														386	0.0770767	0.2027	0.0317	5008	,	,		17351	0.0		0.0427	False		,,,				2504	0.0542				Colon(110;1515 1566 8452 10082 43216)	ENST00000405623.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	GRCh37	CI042901|CI984063	POMC	I	rs10654394	c.(295-300)ggcagg>ggAGCAGCGGCcagg		proopiomelanocortin	Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)		,	619,2251		169,281,985					,	2.6	0.6		dbSNP_119	5	273,5657		76,121,2768	no	coding,coding	POMC	NM_001035256.1,NM_000939.2	,	245,402,3753	A1A1,A1R,RR		4.6037,21.5679,10.1364	,	,		892,7908				SO:0001652	inframe_insertion	5443				cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding	g.chr2:25384456_25384457insGCCGCTGCT		CCDS1717.1	2p23	2013-02-25	2008-07-31		ENSG00000115138	ENSG00000115138		"""Endogenous ligands"""	9201	protein-coding gene	gene with protein product	"""adrenocorticotropin"", ""beta-lipotropin"", ""alpha-melanocyte stimulating hormone"", ""beta-melanocyte stimulating hormone"", ""beta-endorphin"", ""adrenocorticotropic hormone"", ""opiomelanocortin prepropeptide"""	176830				6254047, 9620771	Standard	NM_001035256		Approved	MSH, POC, CLIP, ACTH, NPP, LPH	uc002rfz.1	P01189	OTTHUMG00000094764	ENST00000405623.1:c.289_297dupAGCAGCGGC	2.37:g.25384457_25384465dupGCCGCTGCT	ENSP00000384092:p.Gly96_Ser98dup					POMC_ENST00000264708.3_In_Frame_Ins_p.99_100GR>GAAAR|POMC_ENST00000395826.2_In_Frame_Ins_p.99_100GR>GAAAR|POMC_ENST00000380794.1_In_Frame_Ins_p.99_100GR>GAAAR	p.99_100GR>GAAAR			P01189	COLI_HUMAN			3	752_753	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		99		Missing.			P78442|Q53T23|Q9UD39|Q9UD40	In_Frame_Ins	INS	ENST00000405623.1	37	c.297_298insAGCAGCGGC	CCDS1717.1																																																																																				0.728	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211573.3	NM_001035256		7	20						7	20	---	---	---	---
AC016995.3	0	broad.mit.edu	37	2	38710017	38710019	+	lincRNA	DEL	AAT	AAT	-	rs2005502|rs57303101|rs538061888|rs200292719	byFrequency	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr2:38710017_38710019delAAT	ENST00000417039.1	-	0	696																											TTCTTtaaaaaataaataaataa	0.246																																						ENST00000417039.1																			0																																																			0							g.chr2:38710017_38710019delAAT																													2.37:g.38710017_38710019delAAT														0	696	-									RNA	DEL	ENST00000417039.1	37																																																																																						0.246	AC016995.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331173.1			11	27						11	27	---	---	---	---
USP34	9736	broad.mit.edu	37	2	61575023	61575025	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr2:61575023_61575025delTGG	ENST00000398571.2	-	15	2341_2343	c.2265_2267delCCA	c.(2263-2268)caccat>cat	p.755_756HH>H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	755					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			gtggtggtgatggtggtggtggt	0.389																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(2263-2268)cat>ca		ubiquitin specific peptidase 34																																				SO:0001651	inframe_deletion	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61575023_61575025delTGG	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.2265_2267delCCA	2.37:g.61575032_61575034delTGG	ENSP00000381577:p.His760del						p.HH759del	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		15	2341_2343	-			759					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	In_Frame_Del	DEL	ENST00000398571.2	37	c.2265_2267delCCA	CCDS42686.1																																																																																				0.389	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			8	243						8	243	---	---	---	---
RBM45	129831	broad.mit.edu	37	2	178988920	178988920	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr2:178988920delA	ENST00000286070.5	+	8	1227	c.1135delA	c.(1135-1137)aaafs	p.K381fs		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	383					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A382fs*7(2)|p.?(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			TCCATCATGCAAAAAAAAAGC	0.353																																						ENST00000286070.5																			3	Deletion - Frameshift(2)|Unknown(1)	p.A382fs*7(2)|p.?(1)	large_intestine(2)|skin(1)	endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1135-1137)aafs		RNA binding motif protein 45				3,107,4156		0,0,3,40,27,2063	69.0	75.0	73.0			4.7	1.0	2		75	6,163,8085		0,0,6,55,53,4013	no	codingComplex	RBM45	NM_152945.2		0,0,9,95,80,6076	A1A1,A1A2,A1R,A2A2,A2R,RR		2.0475,2.5785,2.2284			178988920	9,270,12241	2203	4300	6503	SO:0001589	frameshift_variant	129831				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr2:178988920delA	AF526533	CCDS33335.1	2q31.2	2013-02-12			ENSG00000155636	ENSG00000155636		"""RNA binding motif (RRM) containing"""	24468	protein-coding gene	gene with protein product	"""developmentally regulated RNA binding protein 1"""	608888				12220514	Standard	XM_005246287		Approved	DRB1, FLJ44612	uc002ulv.3	Q8IUH3	OTTHUMG00000154202	ENST00000286070.5:c.1135delA	2.37:g.178988920delA	ENSP00000286070:p.Lys381fs						p.K381fs	NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)		8	1227	+			383					Q6NYL0|Q8NFC9	Frame_Shift_Del	DEL	ENST00000286070.5	37	c.1135delA	CCDS33335.1																																																																																				0.353	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334375.2	NM_152945		8	280						8	280	---	---	---	---
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937|rs74800608|rs375843790|rs74185804|rs202010288	byFrequency	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q92777	SYN2_HUMAN	synapsin II						neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764														5004	0.999201	0.9992	1.0	5008	,	,		2724	1.0		0.999	False		,,,				2504	0.998					ENST00000432424.2																			0				breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18								synapsin II																																						6854				neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity	g.chr3:12046124_12046126delAGC		CCDS74900.1, CCDS74901.1	3p25.2	2013-09-20			ENSG00000157152	ENSG00000157152			11495	protein-coding gene	gene with protein product		600755				8530057	Standard	XM_006713311		Approved	SYNII, SYNIIa, SYNIIb	uc003bwm.3	Q92777	OTTHUMG00000155335		3.37:g.12046124_12046126delAGC										Q86VA8	Q86VA8_HUMAN			0	245_247	+								A8MY98	RNA	DEL	ENST00000432424.2	37																																																																																						0.764	SYN2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000339528.3	NM_133625		7	24						7	24	---	---	---	---
ZFR	51663	broad.mit.edu	37	5	32419951	32419953	+	In_Frame_Del	DEL	GGT	GGT	-	rs376016449		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr5:32419951_32419953delGGT	ENST00000265069.8	-	3	495_497	c.393_395delACC	c.(391-396)ccaccc>ccc	p.131_132PP>P		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	131	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)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		AGTAGCTGGGGGTGGTGGTGGTG	0.483																																						ENST00000265069.8																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(391-396)ccc>cc		zinc finger RNA binding protein																																				SO:0001651	inframe_deletion	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32419951_32419953delGGT	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.393_395delACC	5.37:g.32419960_32419962delGGT	ENSP00000265069:p.Pro133del						p.PP131del	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	3	495_497	-			131			Ala-rich.		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	In_Frame_Del	DEL	ENST00000265069.8	37	c.393_395delACC	CCDS34139.1																																																																																				0.483	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			9	721						9	721	---	---	---	---
FGFR4	2264	broad.mit.edu	37	5	176520283	176520283	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr5:176520283delG	ENST00000292408.4	+	9	1447	c.1202delG	c.(1201-1203)cgcfs	p.R401fs	FGFR4_ENST00000292410.3_Intron|FGFR4_ENST00000393637.1_Intron|FGFR4_ENST00000502906.1_Frame_Shift_Del_p.R401fs|FGFR4_ENST00000393648.2_Intron	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	401					alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	CGGCACCCCCGCCCGCCCGCC	0.692										TSP Lung(9;0.080)																												ENST00000292408.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34						c.(1201-1203)ccfs		fibroblast growth factor receptor 4	Palifermin(DB00039)						24.0	27.0	26.0					5																	176520283		2201	4299	6500	SO:0001589	frameshift_variant	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176520283delG	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.1202delG	5.37:g.176520283delG	ENSP00000292408:p.Arg401fs	TSP Lung(9;0.080)				FGFR4_ENST00000393648.2_Intron|FGFR4_ENST00000292410.3_Intron|FGFR4_ENST00000502906.1_Frame_Shift_Del_p.R401fs|FGFR4_ENST00000393637.1_Intron	p.R401fs	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1447	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	401					G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Frame_Shift_Del	DEL	ENST00000292408.4	37	c.1202delG	CCDS4410.1																																																																																				0.692	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			7	262						7	262	---	---	---	---
TDRD6	221400	broad.mit.edu	37	6	46660414	46660415	+	Frame_Shift_Ins	INS	-	-	A	rs145334816		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr6:46660414_46660415insA	ENST00000316081.6	+	1	4549_4550	c.4549_4550insA	c.(4549-4551)gaafs	p.E1517fs	TDRD6_ENST00000544460.1_Frame_Shift_Ins_p.E1517fs	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1517					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTATAATCCAGAAAAAAAAATG	0.351																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4549-4551)aaafs		tudor domain containing 6																																				SO:0001589	frameshift_variant	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46660414_46660415insA	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4558dupA	6.37:g.46660423_46660423dupA	ENSP00000346065:p.Glu1517fs					TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.K1517fs	p.K1517fs	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	4803_4804	+			1517					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Frame_Shift_Ins	INS	ENST00000316081.6	37	c.4549_4550insA	CCDS34470.1																																																																																				0.351	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		7	160						7	160	---	---	---	---
PMS2P3	5387	broad.mit.edu	37	7	75142142	75142142	+	RNA	DEL	A	A	-	rs35519730	byFrequency	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr7:75142142delA	ENST00000418756.1	-	0	991				Y_RNA_ENST00000364004.1_RNA	NR_028059.1		Q13401	PM2P3_HUMAN	postmeiotic segregation increased 2 pseudogene 3						mismatch repair (GO:0006298)|regulation of transcription, DNA-templated (GO:0006355)	mismatch repair complex (GO:0032300)	nucleic acid binding (GO:0003676)			lung(1)	1						tctcaaaaagaaaaaaaaaaa	0.418													|||unknown(NO_COVERAGE)	2287	0.456669	0.1619	0.6037	5008	,	,		12703	0.6558		0.4861	False		,,,				2504	0.5153				NSCLC(70;602 1339 5301 18528 38453)	ENST00000418756.1																			0				lung(1)	1																																														0							g.chr7:75142142delA	D38437		7q11.23	2010-10-26	2010-10-26	2010-10-26	ENSG00000127957	ENSG00000127957			9128	pseudogene	pseudogene			"""postmeiotic segregation increased 2-like 3"", ""postmeiotic segregation increased 2-like 3, pseudogene"""	PMS2L9, PMS2L3		8586419	Standard	NR_028059		Approved	PMS5, PMSR3	uc022agi.1	Q13401	OTTHUMG00000156049		7.37:g.75142142delA								NR_028059.1						0	991	-								A6NG70|Q3MJ29	RNA	DEL	ENST00000418756.1	37																																																																																						0.418	PMS2P3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000342862.2	NR_028059		7	11						7	11	---	---	---	---
TRBV7-8	28590	broad.mit.edu	37	7	142099805	142099806	+	RNA	DEL	AC	AC	-	rs368401262		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr7:142099805_142099806delAC	ENST00000390359.3	-	0	88									T cell receptor beta variable 7-8																		TAGTCATcatacacacacacac	0.441																																						ENST00000390359.3																			0																	1150,504,192,73,32,19,1642		93,271,69,34,0,6,584,12,24,19,0,2,164,6,1,0,1,85,0,0,0,19,5,0,22,2,6,381						-3.9	0.0		dbSNP_134	72	454,34,630,2,192,56,6534		14,14,43,0,0,6,363,1,6,0,0,0,12,12,1,0,4,552,0,0,0,1,3,0,186,1,44,2688	no	intergenic				107,285,112,34,0,12,947,13,30,19,0,2,176,18,2,0,5,637,0,0,0,20,8,0,208,3,50,3069	A1A1,A1A2,A1A3,A1A4,A1A5,A1A6,A1R,A2A2,A2A3,A2A4,A2A5,A2A6,A2R,A3A3,A3A4,A3A5,A3A6,A3R,A4A4,A4A5,A4A6,A4R,A5A5,A5A6,A5R,A6A6,A6R,RR		17.3121,54.5404,28.9908				1604,538,822,75,224,75,8176						0							g.chr7:142099805_142099806delAC	M11953		7q34	2012-02-07			ENSG00000229200			"""T cell receptors / TRB locus"""	12242	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV78, TCRBV6S2A1N1T, TCRBV7S8			OTTHUMG00000158875		7.37:g.142099815_142099816delAC														0	88	-									RNA	DEL	ENST00000390359.3	37																																																																																						0.441	TRBV7-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352483.1	NG_001333		11	199						11	199	---	---	---	---
KAT6A	7994	broad.mit.edu	37	8	41798420	41798422	+	In_Frame_Del	DEL	CTC	CTC	-	rs139076845		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr8:41798420_41798422delCTC	ENST00000396930.3	-	16	3520_3522	c.2977_2979delGAG	c.(2977-2979)gagdel	p.E993del	KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del|KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	993	Poly-Glu.				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)										GGCTTTCCGGCTCCTCCTCCTCC	0.567																																						ENST00000396930.3																			0											c.(2977-2979)del		K(lysine) acetyltransferase 6A																																				SO:0001651	inframe_deletion	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.chr8:41798420_41798422delCTC	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.2977_2979delGAG	8.37:g.41798429_41798431delCTC	ENSP00000380136:p.Glu993del					KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del|KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del	p.E993del	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			16	3520_3522	-			993			Poly-Glu.		Q76L81	In_Frame_Del	DEL	ENST00000396930.3	37	c.2977_2979delGAG	CCDS6124.1																																																																																				0.567	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		7	471						7	471	---	---	---	---
TBC1D31	93594	broad.mit.edu	37	8	124140520	124140521	+	Splice_Site	INS	-	-	T	rs570441854		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr8:124140520_124140521insT	ENST00000287380.1	+	14	1974_1975		c.e14-1		TBC1D31_ENST00000522420.1_Splice_Site|TBC1D31_ENST00000378080.2_Splice_Site|TBC1D31_ENST00000521676.1_Splice_Site|TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000309336.3_Splice_Site|TBC1D31_ENST00000327098.5_Splice_Site	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31							centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										TTTTCTTACAGTTTTTTTTTCA	0.322																																						ENST00000287380.1																			0											c.e14-1		TBC1 domain family, member 31			,	6,4258		0,6,2126					,	5.7	1.0			76	8,8246		0,8,4119	no	frameshift-near-splice,frameshift-near-splice	WDR67	NM_145647.3,NM_001145088.1	,	0,14,6245	A1A1,A1R,RR		0.0969,0.1407,0.1118	,	,		14,12504				SO:0001630	splice_region_variant	93594							g.chr8:124140520_124140521insT	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.1885-1->T	8.37:g.124140529_124140529dupT						TBC1D31_ENST00000309336.3_Splice_Site|TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000378080.2_Splice_Site|TBC1D31_ENST00000327098.5_Splice_Site|TBC1D31_ENST00000522420.1_Splice_Site|TBC1D31_ENST00000521676.1_Splice_Site		NM_145647.3	NP_663622.2					14	1974_1975	+								B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Splice_Site	INS	ENST00000287380.1	37		CCDS6338.1																																																																																				0.322	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647	Intron	7	204						7	204	---	---	---	---
RUSC2	9853	broad.mit.edu	37	9	35560102	35560104	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr9:35560102_35560104delGCT	ENST00000455600.1	+	10	4034_4036	c.3465_3467delGCT	c.(3463-3468)gagctg>gag	p.L1160del	FAM166B_ENST00000492890.1_5'Flank	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1160	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			TCTTTGAAGAGCTGCTGCTGCTG	0.616																																						ENST00000455600.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(3463-3468)gag>ga		RUN and SH3 domain containing 2																																				SO:0001651	inframe_deletion	9853					cytosol		g.chr9:35560102_35560104delGCT	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.3465_3467delGCT	9.37:g.35560111_35560113delGCT	ENSP00000393922:p.Leu1160del						p.EL1155del	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		10	4034_4036	+			1155			RUN.		A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	In_Frame_Del	DEL	ENST00000455600.1	37	c.3465_3467delGCT	CCDS35008.1																																																																																				0.616	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		7	559						7	559	---	---	---	---
ARID5B	84159	broad.mit.edu	37	10	63852298	63852298	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr10:63852298delA	ENST00000279873.7	+	10	3486	c.3076delA	c.(3076-3078)aaafs	p.K1027fs	ARID5B_ENST00000309334.5_Frame_Shift_Del_p.K784fs	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1027					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GATTGCAGGGAAAAAGGCCCG	0.607																																						ENST00000279873.7																			0				NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(3076-3078)aafs		AT rich interactive domain 5B (MRF1-like)							66.0	75.0	72.0					10																	63852298		2203	4300	6503	SO:0001589	frameshift_variant	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63852298delA	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.3076delA	10.37:g.63852298delA	ENSP00000279873:p.Lys1027fs					ARID5B_ENST00000309334.5_Frame_Shift_Del_p.K784fs	p.K1027fs	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN			10	3486	+	Prostate(12;0.016)|all_hematologic(501;0.215)		1027					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Frame_Shift_Del	DEL	ENST00000279873.7	37	c.3076delA	CCDS31208.1																																																																																				0.607	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		7	549						7	549	---	---	---	---
PPRC1	23082	broad.mit.edu	37	10	103901076	103901077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr10:103901076_103901077insC	ENST00000278070.2	+	5	2850_2851	c.2811_2812insC	c.(2812-2814)cccfs	p.P938fs	PPRC1_ENST00000413464.2_Frame_Shift_Ins_p.P938fs|PPRC1_ENST00000370012.1_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	938	Pro-rich.				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)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		ATCCTTGCCTGCCCCCCCCACC	0.604																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(2809-2814)ctccccfs		peroxisome proliferator-activated receptor gamma, coactivator-related 1																																				SO:0001589	frameshift_variant	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103901076_103901077insC	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.2819dupC	10.37:g.103901084_103901084dupC	ENSP00000278070:p.Pro938fs					PPRC1_ENST00000413464.2_Frame_Shift_Ins_p.LP937fs	p.LP937fs	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	5	2850_2851	+		Colorectal(252;0.122)	937			Pro-rich.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Frame_Shift_Ins	INS	ENST00000278070.2	37	c.2811_2812insC	CCDS7529.1																																																																																				0.604	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		8	364						8	364	---	---	---	---
NLRP6	171389	broad.mit.edu	37	11	281553	281555	+	In_Frame_Del	DEL	GAG	GAG	-	rs377505007		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr11:281553_281555delGAG	ENST00000312165.5	+	4	1819_1821	c.1819_1821delGAG	c.(1819-1821)gagdel	p.E611del	NLRP6_ENST00000534750.1_In_Frame_Del_p.E611del	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGAAGAGCCAGAGGAGGAGGAGG	0.67																																						ENST00000534750.1																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(1819-1821)del		NLR family, pyrin domain containing 6																																				SO:0001651	inframe_deletion	171389					cytoplasm	ATP binding	g.chr11:281553_281555delGAG	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1819_1821delGAG	11.37:g.281562_281564delGAG	ENSP00000309767:p.Glu611del					NLRP6_ENST00000312165.5_In_Frame_Del_p.E611del	p.E611del	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	2024_2026	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	611			Poly-Glu.		A8K9F3|E9PJZ8	In_Frame_Del	DEL	ENST00000312165.5	37	c.1819_1821delGAG	CCDS7693.1																																																																																				0.670	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		9	656						9	656	---	---	---	---
UBQLN3	50613	broad.mit.edu	37	11	5529918	5529920	+	In_Frame_Del	DEL	TGG	TGG	-	rs2234451	byFrequency	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr11:5529918_5529920delTGG	ENST00000311659.4	-	2	1016_1018	c.869_871delCCA	c.(868-873)accagc>agc	p.T290del	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	290			T -> S (in dbSNP:rs2234451).							NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGGTTGGCTGGTGGTGGTGGT	0.537																																					Ovarian(72;684 1260 12332 41642 52180)	ENST00000311659.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(868-873)agc>a		ubiquilin 3																																				SO:0001651	inframe_deletion	50613							g.chr11:5529918_5529920delTGG	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.869_871delCCA	11.37:g.5529927_5529929delTGG	ENSP00000347997:p.Thr290del					HBG2_ENST00000380259.2_Intron	p.TS290del	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1016_1018	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	290		T -> S (in dbSNP:rs2234451).			Q9NRE0	In_Frame_Del	DEL	ENST00000311659.4	37	c.869_871delCCA	CCDS7758.1																																																																																				0.537	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		14	520						14	520	---	---	---	---
RARRES3	5920	broad.mit.edu	37	11	63313709	63313709	+	Frame_Shift_Del	DEL	A	A	-	rs547099153		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr11:63313709delA	ENST00000255688.3	+	4	524	c.476delA	c.(475-477)caafs	p.Q159fs	RARRES3_ENST00000354445.2_Frame_Shift_Del_p.Q159fs|RARRES3_ENST00000537871.1_3'UTR	NM_004585.3	NP_004576.2	Q9UL19	HRSL4_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	159					lipid catabolic process (GO:0016042)|negative regulation of cell proliferation (GO:0008285)|phospholipid metabolic process (GO:0006644)	integral component of membrane (GO:0016021)	phospholipase A2 activity (GO:0004623)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						AGGAGATACCAAAAAAAAGCG	0.537																																						ENST00000255688.3																			0				kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						c.(475-477)cafs		retinoic acid receptor responder (tazarotene induced) 3							111.0	127.0	122.0					11																	63313709		1948	4123	6071	SO:0001589	frameshift_variant	5920				lipid catabolic process|negative regulation of cell proliferation		hydrolase activity	g.chr11:63313709delA		CCDS41662.1	11q23	2008-05-02			ENSG00000133321	ENSG00000133321			9869	protein-coding gene	gene with protein product		605092				9270552	Standard	NM_004585		Approved	TIG3, HRASLS4	uc001nxf.4	Q9UL19	OTTHUMG00000167850	ENST00000255688.3:c.476delA	11.37:g.63313709delA	ENSP00000255688:p.Gln159fs					RARRES3_ENST00000354445.2_Frame_Shift_Del_p.Q159fs|RARRES3_ENST00000537871.1_3'UTR	p.Q159fs	NM_004585.3	NP_004576.2	Q9UL19	TIG3_HUMAN			4	524	+			159					B2R599|B4DDW2|E7ENZ7|O95200	Frame_Shift_Del	DEL	ENST00000255688.3	37	c.476delA	CCDS41662.1																																																																																				0.537	RARRES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396629.1			8	613						8	613	---	---	---	---
NCAPD3	23310	broad.mit.edu	37	11	134048586	134048586	+	Frame_Shift_Del	DEL	G	G	-	rs138442478		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr11:134048586delG	ENST00000534548.2	-	22	2789	c.2725delC	c.(2725-2727)cagfs	p.Q909fs	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	909					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)	p.Q909fs*12(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CCTCTGACCTGGGGGGGTGGC	0.522																																						ENST00000534548.2																			1	Insertion - Frameshift(1)	p.Q909fs*12(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2725-2727)agfs		non-SMC condensin II complex, subunit D3							91.0	93.0	93.0					11																	134048586		2201	4297	6498	SO:0001589	frameshift_variant	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134048586delG	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.2725delC	11.37:g.134048586delG	ENSP00000433681:p.Gln909fs						p.Q909fs	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	22	2789	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	909					A6NFS2|Q4KMQ9	Frame_Shift_Del	DEL	ENST00000534548.2	37	c.2725delC	CCDS31723.1																																																																																				0.522	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		7	369						7	369	---	---	---	---
SMARCC2	6601	broad.mit.edu	37	12	56558379	56558381	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr12:56558379_56558381delAGG	ENST00000267064.4	-	27	3360_3362	c.3274_3276delCCT	c.(3274-3276)cctdel	p.P1092del	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000550164.1_In_Frame_Del_p.P1123del|SMARCC2_ENST00000394023.3_Intron	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1092	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TGGATGGAGCAGGAGGAGGAGGA	0.591																																						ENST00000550164.1																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(3367-3369)del		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2																																				SO:0001651	inframe_deletion	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56558379_56558381delAGG	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3274_3276delCCT	12.37:g.56558388_56558390delAGG	ENSP00000267064:p.Pro1092del					SMARCC2_ENST00000267064.4_In_Frame_Del_p.P1092del|SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000394023.3_Intron|RP11-977G19.5_ENST00000553176.1_RNA	p.P1123del			Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		28	3381_3383	-			1092	HGHHHHLPFA -> MGSPPSPVR (in Ref. 1; AAC50694).		Pro-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	In_Frame_Del	DEL	ENST00000267064.4	37	c.3367_3369delCCT	CCDS8907.1																																																																																				0.591	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			7	159						7	159	---	---	---	---
LRIG3	121227	broad.mit.edu	37	12	59277344	59277344	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr12:59277344delA	ENST00000320743.3	-	11	1560	c.1274delT	c.(1273-1275)ttafs	p.L425fs	LRIG3_ENST00000379141.4_Frame_Shift_Del_p.L365fs	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	425					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			ATTGCCTTGTAAAGACATGAT	0.383			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1273-1275)tafs		leucine-rich repeats and immunoglobulin-like domains 3							122.0	116.0	118.0					12																	59277344		2203	4300	6503	SO:0001589	frameshift_variant	121227					integral to membrane		g.chr12:59277344delA	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.1274delT	12.37:g.59277344delA	ENSP00000326759:p.Leu425fs					LRIG3_ENST00000379141.4_Frame_Shift_Del_p.L365fs	p.L425fs	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		11	1560	-			425					Q6UXL7|Q8NC72	Frame_Shift_Del	DEL	ENST00000320743.3	37	c.1274delT	CCDS8960.1																																																																																				0.383	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		40	163						40	163	---	---	---	---
MLEC	9761	broad.mit.edu	37	12	121134166	121134168	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr12:121134166_121134168delGAA	ENST00000228506.3	+	5	1125_1127	c.697_699delGAA	c.(697-699)gaadel	p.E238del	MLEC_ENST00000412616.2_In_Frame_Del_p.K159del|RP11-173P15.3_ENST00000535720.1_RNA|RP11-173P15.3_ENST00000541383.1_RNA	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	238	Poly-Glu.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)	p.E233E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						gaaagaagaggaagaagaagaag	0.458																																						ENST00000228506.3																			1	Substitution - coding silent(1)	p.E233E(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						c.(697-699)del		malectin				4,33,4227		0,0,4,8,17,2103						1.0	1.0			129	1,29,8224		0,0,1,6,17,4103	no	codingComplex	MLEC	NM_014730.2		0,0,5,14,34,6206	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3635,0.8677,0.5352				5,62,12451				SO:0001651	inframe_deletion	9761				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	g.chr12:121134166_121134168delGAA	BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	613802	"""KIAA0152"""	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.697_699delGAA	12.37:g.121134175_121134177delGAA	ENSP00000228506:p.Glu238del					MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del	p.E238del	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN			5	1125_1127	+			238			Poly-Glu.			In_Frame_Del	DEL	ENST00000228506.3	37	c.697_699delGAA	CCDS9206.1																																																																																				0.458	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402781.2	NM_014730		11	380						11	380	---	---	---	---
PABPC3	5042	broad.mit.edu	37	13	25671097	25671098	+	Frame_Shift_Ins	INS	-	-	T	rs140090397	byFrequency	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr13:25671097_25671098insT	ENST00000281589.3	+	1	798_799	c.761_762insT	c.(760-765)aaggagfs	p.KE254fs		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	254	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		ATGAATGGAAAGGAGCTCAATG	0.401													-|-|T|insertion	483	0.0964457	0.1694	0.0576	5008	,	,		25438	0.0337		0.0358	False		,,,				2504	0.1524					ENST00000281589.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(760-762)agafs		poly(A) binding protein, cytoplasmic 3																																				SO:0001589	frameshift_variant	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671097_25671098insT	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	Exception_encountered	13.37:g.25671097_25671098insT	ENSP00000281589:p.Lys254fs						p.R254fs	NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	798_799	+		Lung SC(185;0.0225)|Breast(139;0.0602)	254			RRM 3.		Q8NHV0|Q9H086	Frame_Shift_Ins	INS	ENST00000281589.3	37	c.761_762insT	CCDS9311.1																																																																																				0.401	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		12	237						12	237	---	---	---	---
GPALPP1	55425	broad.mit.edu	37	13	45580365	45580367	+	In_Frame_Del	DEL	GAT	GAT	-	rs138421508		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr13:45580365_45580367delGAT	ENST00000379151.4	+	3	353_355	c.250_252delGAT	c.(250-252)gatdel	p.D88del	GPALPP1_ENST00000357537.3_De_novo_Start_InFrame|GPALPP1_ENST00000361121.2_In_Frame_Del_p.D88del|RP11-321C24.1_ENST00000437748.2_lincRNA	NM_018559.2	NP_061029.2	Q8IXQ4	GPAM1_HUMAN	GPALPP motifs containing 1	88	Poly-Asp.																Ggatgatgacgatgatgatgatg	0.335																																						ENST00000361121.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12						c.(250-252)del						311,3953		154,3,1975						-7.1	0.0			182	654,7600		325,4,3798	no	coding	KIAA1704	NM_018559.2		479,7,5773	A1A1,A1R,RR		7.9234,7.2936,7.7089				965,11553				SO:0001651	inframe_deletion	0							g.chr13:45580365_45580367delGAT	AB051491	CCDS9394.1	13q14.12	2013-08-13	2013-08-12	2013-08-12	ENSG00000133114	ENSG00000133114			20298	protein-coding gene	gene with protein product			"""KIAA1704"""	KIAA1704		11214970	Standard	NM_018559		Approved	bA245H20.2, AD029, LSR7	uc001uzq.3	Q8IXQ4	OTTHUMG00000016841	ENST00000379151.4:c.250_252delGAT	13.37:g.45580374_45580376delGAT	ENSP00000368447:p.Asp88del					KIAA1704_ENST00000379151.4_In_Frame_Del_p.D88del|RP11-321C24.1_ENST00000437748.2_lincRNA|KIAA1704_ENST00000357537.3_De_novo_Start_InFrame	p.D88del			Q8IXQ4	K1704_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)	3	285_287	+		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	88			Poly-Asp.		A8K8X8|Q05BX8|Q05D87|Q5T3Z3|Q5T3Z5|Q9C0F9|Q9H2R0|Q9P0W6	In_Frame_Del	DEL	ENST00000379151.4	37	c.250_252delGAT	CCDS9394.1																																																																																				0.335	GPALPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044749.2	NM_018559		7	503						7	503	---	---	---	---
FAM155A	728215	broad.mit.edu	37	13	108518337	108518338	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr13:108518337_108518338insC	ENST00000375915.2	-	1	745_746	c.607_608insG	c.(607-609)gacfs	p.D203fs		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	203						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CTCCTGCCCGTCCCCCCCGGCC	0.609																																						ENST00000375915.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(607-609)cggfs		family with sequence similarity 155, member A																																				SO:0001589	frameshift_variant	728215					integral to membrane	binding	g.chr13:108518337_108518338insC	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.608dupG	13.37:g.108518344_108518344dupC	ENSP00000365080:p.Asp203fs						p.R203fs	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			1	745_746	-			203					B2RUV1|B7Z334	Frame_Shift_Ins	INS	ENST00000375915.2	37	c.607_608insG	CCDS32006.1																																																																																				0.609	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		7	461						7	461	---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20852647	20852647	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr14:20852647delC	ENST00000262715.5	-	23	3282	c.3242delG	c.(3241-3243)ggtfs	p.G1081fs	TEP1_ENST00000556935.1_Frame_Shift_Del_p.G973fs|TEP1_ENST00000545983.1_5'Flank	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1081					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.V1082fs*47(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGCTGCCACACCCCCCCACTC	0.587																																						ENST00000262715.5																			1	Insertion - Frameshift(1)	p.V1082fs*47(1)	large_intestine(1)	NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(3241-3243)gtfs		telomerase-associated protein 1							108.0	128.0	121.0					14																	20852647		2203	4300	6503	SO:0001589	frameshift_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20852647delC		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.3242delG	14.37:g.20852647delC	ENSP00000262715:p.Gly1081fs					TEP1_ENST00000556935.1_Frame_Shift_Del_p.G973fs	p.G1081fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	23	3282	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1081					A0AUV9	Frame_Shift_Del	DEL	ENST00000262715.5	37	c.3242delG	CCDS9548.1																																																																																				0.587	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		7	897						7	897	---	---	---	---
TOX4	9878	broad.mit.edu	37	14	21961060	21961062	+	In_Frame_Del	DEL	GCT	GCT	-	rs571846793		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr14:21961060_21961062delGCT	ENST00000405508.1	+	8	1561_1563	c.1285_1287delGCT	c.(1285-1287)gctdel	p.A434del	TOX4_ENST00000262709.3_In_Frame_Del_p.A434del|TOX4_ENST00000448790.2_In_Frame_Del_p.A411del			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	434	Gln/Pro-rich.|Poly-Ala.					chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)	p.A429A(1)		large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		GGCAGCAGCAGCTGCTGCTGCTG	0.581																																						ENST00000405508.1																			1	Substitution - coding silent(1)	p.A429A(1)	large_intestine(1)	large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1285-1287)del		TOX high mobility group box family member 4																																				SO:0001651	inframe_deletion	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21961060_21961062delGCT	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1285_1287delGCT	14.37:g.21961069_21961071delGCT	ENSP00000385102:p.Ala434del					TOX4_ENST00000448790.2_In_Frame_Del_p.A411del|TOX4_ENST00000262709.3_In_Frame_Del_p.A434del	p.A434del			O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	8	1561_1563	+	all_cancers(95;0.000465)		434			Gln/Pro-rich.|Poly-Ala.		B4DPY8|B4DSM0|E7EV69	In_Frame_Del	DEL	ENST00000405508.1	37	c.1285_1287delGCT	CCDS32043.1																																																																																				0.581	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		10	879						10	879	---	---	---	---
ATXN3	4287	broad.mit.edu	37	14	92537355	92537357	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr14:92537355_92537357delCTG	ENST00000532032.1	-	10	922_924	c.913_915delCAG	c.(913-915)cagdel	p.Q305del	ATXN3_ENST00000545170.1_In_Frame_Del_p.Q314del|ATXN3_ENST00000503767.1_In_Frame_Del_p.Q290del|ATXN3_ENST00000340660.6_In_Frame_Del_p.Q250del|ATXN3_ENST00000502250.1_In_Frame_Del_p.Q126del|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000393287.5_In_Frame_Del_p.Q305del|ATXN3_ENST00000429774.2_In_Frame_Del_p.Q298del			P54252	ATX3_HUMAN	ataxin 3	305	Poly-Gln.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|cellular response to misfolded protein (GO:0071218)|intermediate filament cytoskeleton organization (GO:0045104)|microtubule cytoskeleton organization (GO:0000226)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|monoubiquitinated protein deubiquitination (GO:0035520)|nervous system development (GO:0007399)|nucleotide-excision repair (GO:0006289)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell-substrate adhesion (GO:0010810)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|Lys48-specific deubiquitinase activity (GO:1990380)|Lys63-specific deubiquitinase activity (GO:0061578)|omega peptidase activity (GO:0008242)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		ATAGGTCCCCctgctgctgctgc	0.448																																					Esophageal Squamous(190;752 2094 29897 44875 49530)	ENST00000545170.1																			0				endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12						c.(940-942)del		ataxin 3																																				SO:0001651	inframe_deletion	4287				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding	g.chr14:92537355_92537357delCTG	U64820	CCDS9900.1, CCDS32143.1, CCDS45154.1, CCDS53908.1, CCDS73680.1	14q21	2014-09-17	2004-08-12	2004-08-13	ENSG00000066427	ENSG00000066427		"""Ataxins"""	7106	protein-coding gene	gene with protein product		607047	"""Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)"""	SCA3, MJD		8358439	Standard	NM_004993		Approved	ATX3, JOS	uc001yac.4	P54252	OTTHUMG00000162212	ENST00000532032.1:c.913_915delCAG	14.37:g.92537364_92537366delCTG	ENSP00000437157:p.Gln305del					ATXN3_ENST00000532032.1_In_Frame_Del_p.Q305del|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000429774.2_In_Frame_Del_p.Q298del|ATXN3_ENST00000503767.1_In_Frame_Del_p.Q290del|ATXN3_ENST00000502250.1_In_Frame_Del_p.Q126del|ATXN3_ENST00000393287.5_In_Frame_Del_p.Q305del|ATXN3_ENST00000340660.6_In_Frame_Del_p.Q250del	p.Q314del	NM_001164774.1|NM_001164776.1|NM_001164777.1|NM_001164778.1|NM_004993.5	NP_001158246.1|NP_001158248.1|NP_001158249.1|NP_001158250.1|NP_004984.2	P54252	ATX3_HUMAN		COAD - Colon adenocarcinoma(157;0.224)	10	1008_1010	-		all_cancers(154;0.0768)	305					A7LFZ5|D6RDL9|E9PB63|O15284|O15285|O15286|Q8N189|Q96TC3|Q96TC4|Q9H3N0	In_Frame_Del	DEL	ENST00000532032.1	37	c.940_942delCAG																																																																																					0.448	ATXN3-015	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388065.1	NM_004993		8	249						8	249	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102299886	102299887	+	RNA	INS	-	-	G	rs199996275	byFrequency	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr15:102299886_102299887insG	ENST00000561463.1	+	0	7932_7933									DNM1 pseudogene 47																		AACCTGTACTCGCGTCGGAACC	0.589													|||unknown(NO_COVERAGE)	758	0.151358	0.2511	0.1167	5008	,	,		74102	0.0595		0.163	False		,,,				2504	0.1237					ENST00000561463.1																			0																																																			0							g.chr15:102299886_102299887insG	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102299887_102299887dupG														0	7932_7933	+									RNA	INS	ENST00000561463.1	37																																																																																						0.589	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		8	21						8	21	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102304934	102304936	+	RNA	DEL	TCT	TCT	-	rs377396518|rs527958203		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr15:102304934_102304936delTCT	ENST00000561463.1	+	0	12980_12982									DNM1 pseudogene 47																		AAGGAGTTCATCTTCTCAGAGCT	0.586																																						ENST00000561463.1																			0																																																			0							g.chr15:102304934_102304936delTCT	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304937_102304939delTCT														0	12980_12982	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.586	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		7	83						7	83	---	---	---	---
NPIPA5	100288332	broad.mit.edu	37	16	15457565	15457566	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr16:15457565_15457566delAC	ENST00000360151.4	-	8	1002_1003	c.1003_1004delGT	c.(1003-1005)gtcfs	p.V335fs		NM_001277325.1	NP_001264254.1	E9PKD4	NPIA5_HUMAN	nuclear pore complex interacting protein family, member A5	335	Pro-rich.																GAGTGAGCAGACACACTCGGGA	0.446																																						ENST00000360151.4																			0											c.(1003-1005)cfs		nuclear pore complex interacting protein family, member A5																																				SO:0001589	frameshift_variant	100288332							g.chr16:15457565_15457566delAC		CCDS59264.1	16p13.11	2013-06-11			ENSG00000183793	ENSG00000183793			41980	protein-coding gene	gene with protein product							Standard	NM_001277325		Approved			E9PKD4	OTTHUMG00000166305	ENST00000360151.4:c.1003_1004delGT	16.37:g.15457569_15457570delAC	ENSP00000433597:p.Val335fs						p.V335fs	NM_001277325.1	NP_001264254.1					8	1002_1003	-								Q0P618	Frame_Shift_Del	DEL	ENST00000360151.4	37	c.1003_1004delGT	CCDS59264.1																																																																																				0.446	NPIPA5-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389069.1			11	189						11	189	---	---	---	---
IL4R	3566	broad.mit.edu	37	16	27373787	27373789	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr16:27373787_27373789delGAG	ENST00000395762.2	+	11	1373_1375	c.1114_1116delGAG	c.(1114-1116)gagdel	p.E376del	IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000170630.2_In_Frame_Del_p.E376del|IL4R_ENST00000380922.3_In_Frame_Del_p.E361del|IL4R_ENST00000543915.2_In_Frame_Del_p.E376del	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	376	Poly-Glu.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GGTGGAGTGTGAGGAGGAGGAGG	0.591																																						ENST00000395762.2																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(1114-1116)del		interleukin 4 receptor																																				SO:0001651	inframe_deletion	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27373787_27373789delGAG	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1114_1116delGAG	16.37:g.27373796_27373798delGAG	ENSP00000379111:p.Glu376del					IL4R_ENST00000380922.3_In_Frame_Del_p.E361del|IL4R_ENST00000543915.2_In_Frame_Del_p.E376del|IL4R_ENST00000170630.2_In_Frame_Del_p.E376del|IL4R_ENST00000565915.1_3'UTR	p.E376del	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN			11	1373_1375	+			376			Poly-Glu.		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	In_Frame_Del	DEL	ENST00000395762.2	37	c.1114_1116delGAG	CCDS10629.1																																																																																				0.591	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			12	283						12	283	---	---	---	---
NFAT5	10725	broad.mit.edu	37	16	69726420	69726422	+	In_Frame_Del	DEL	CAG	CAG	-	rs369235958		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr16:69726420_69726422delCAG	ENST00000354436.2	+	12	2956_2958	c.2638_2640delCAG	c.(2638-2640)cagdel	p.Q888del	NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000349945.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	888	Poly-Gln.				cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q804Q(1)|p.Q898Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATCTAATcaacagcagcagcagc	0.473																																						ENST00000349945.1																			2	Substitution - coding silent(2)	p.Q804Q(1)|p.Q898Q(1)	endometrium(2)	NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2410-2412)del		nuclear factor of activated T-cells 5, tonicity-responsive																																				SO:0001651	inframe_deletion	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69726420_69726422delCAG	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.2638_2640delCAG	16.37:g.69726429_69726431delCAG	ENSP00000346420:p.Gln888del					NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000354436.2_In_Frame_Del_p.Q888del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del	p.Q812del	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			14	3962_3964	+			888					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	In_Frame_Del	DEL	ENST00000354436.2	37	c.2410_2412delCAG	CCDS10881.1																																																																																				0.473	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		7	188						7	188	---	---	---	---
TMEM199	147007	broad.mit.edu	37	17	26684394	26684395	+	5'Flank	INS	-	-	G	rs202089331|rs17856014	byFrequency	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr17:26684394_26684395insG	ENST00000292114.3	+	0	0				TMEM199_ENST00000395404.3_5'Flank|TMEM199_ENST00000509083.1_5'Flank|POLDIP2_ENST00000003607.4_5'UTR|POLDIP2_ENST00000540200.1_Splice_Site|CTB-96E2.3_ENST00000591482.1_RNA	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		AGAGCGGCTTTGCCACCGGGCC	0.762																																						ENST00000540200.1																			0											c.e1+1		polymerase (DNA-directed), delta interacting protein 2				2770,50		1380,10,20						0.4	0.1		dbSNP_130	4	6440,112		3203,34,39	no	frameshift	POLDIP2	NM_015584.3		4583,44,59	A1A1,A1R,RR		1.7094,1.773,1.7286				9210,162				SO:0001631	upstream_gene_variant	26073					mitochondrial nucleoid|nucleus		g.chr17:26684394_26684395insG	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498		17.37:g.26684395_26684395dupG	Exception_encountered					POLDIP2_ENST00000003607.4_5'UTR		NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	1	78	-	all_lung(13;0.000354)|Lung NSC(42;0.00115)								Splice_Site	INS	ENST00000292114.3	37		CCDS11228.1																																																																																				0.762	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464		18	35						18	35	---	---	---	---
AMZ2P1	201283	broad.mit.edu	37	17	62968575	62968575	+	RNA	DEL	T	T	-	rs376847634	byFrequency	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr17:62968575delT	ENST00000430983.1	-	0	1593					NR_026903.1				archaelysin family metallopeptidase 2 pseudogene 1																		TTGGTTGGAATTTTTTTCCCT	0.333													|||unknown(NO_COVERAGE)	3	0.000599042	0.0	0.0	5008	,	,		17809	0.0		0.0	False		,,,				2504	0.0031					ENST00000430983.1																			0																																																			0							g.chr17:62968575delT	AK056627		17q24.1	2012-10-16	2010-04-08		ENSG00000214174	ENSG00000214174			26491	pseudogene	pseudogene							Standard	NR_026903		Approved	FLJ32065	uc002jfb.3		OTTHUMG00000132075		17.37:g.62968575delT								NR_026903.1						0	1593	-									RNA	DEL	ENST00000430983.1	37																																																																																						0.333	AMZ2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255102.1	NM_153032		7	145						7	145	---	---	---	---
SMAD4	4089	broad.mit.edu	37	18	48604697	48604698	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr18:48604697_48604698delAA	ENST00000342988.3	+	12	2057_2058	c.1519_1520delAA	c.(1519-1521)aaafs	p.K507fs	SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.K507fs|SMAD4_ENST00000588745.1_Frame_Shift_Del_p.K411fs	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	507	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)|p.K507Q(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GAGTTTTGTGAAAGGCTGGGGA	0.47																																						ENST00000342988.3																			40	Whole gene deletion(36)|Substitution - Missense(2)|Unknown(2)	p.0?(36)|p.?(2)|p.K507Q(2)	pancreas(26)|large_intestine(5)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(1519-1521)afs		SMAD family member 4																																				SO:0001589	frameshift_variant	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48604697_48604698delAA	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1519_1520delAA	18.37:g.48604697_48604698delAA	ENSP00000341551:p.Lys507fs					SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.K507fs|SMAD4_ENST00000588745.1_Frame_Shift_Del_p.K411fs	p.K507fs	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	12	2057_2058	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	507			MH2.		A8K405	Frame_Shift_Del	DEL	ENST00000342988.3	37	c.1519_1520delAA	CCDS11950.1																																																																																				0.470	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		61	177						61	177	---	---	---	---
DNMT1	1786	broad.mit.edu	37	19	10262139	10262139	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr19:10262139delT	ENST00000340748.4	-	23	2387	c.2152delA	c.(2152-2154)atgfs	p.M718fs	DNMT1_ENST00000359526.4_Frame_Shift_Del_p.M734fs|DNMT1_ENST00000540357.1_Frame_Shift_Del_p.M718fs			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	718	Autoinhibitory linker.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	CCCTGGTGCATTTTTTTGGGT	0.507																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(2152-2154)tgfs		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						266.0	220.0	236.0					19																	10262139		2203	4300	6503	SO:0001589	frameshift_variant	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10262139delT	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.2152delA	19.37:g.10262139delT	ENSP00000345739:p.Met718fs					DNMT1_ENST00000540357.1_Frame_Shift_Del_p.M718fs|DNMT1_ENST00000359526.4_Frame_Shift_Del_p.M734fs	p.M718fs			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		23	2387	-			718					A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Frame_Shift_Del	DEL	ENST00000340748.4	37	c.2152delA	CCDS12228.1																																																																																				0.507	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		7	622						7	622	---	---	---	---
GADD45GIP1	90480	broad.mit.edu	37	19	13065273	13065275	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr19:13065273_13065275delGCT	ENST00000316939.1	-	2	439_441	c.416_418delAGC	c.(415-420)cagcgg>cgg	p.Q139del		NM_052850.3	NP_443082.2	Q8TAE8	G45IP_HUMAN	growth arrest and DNA-damage-inducible, gamma interacting protein 1	139	Poly-Gln.				cell cycle (GO:0007049)|viral process (GO:0016032)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				ovary(2)|prostate(1)|skin(1)	4						CAGTTCTCCCGCTGCTGCTGCTG	0.635																																						ENST00000316939.1																			0				ovary(2)|prostate(1)|skin(1)	4						c.(415-420)cgg>c		growth arrest and DNA-damage-inducible, gamma interacting protein 1																																				SO:0001651	inframe_deletion	90480				cell cycle|interspecies interaction between organisms	nucleus	protein binding	g.chr19:13065273_13065275delGCT	AF479749	CCDS12290.1	19p13.2	2014-02-12				ENSG00000179271			29996	protein-coding gene	gene with protein product	"""papillomavirus L2 interacting nuclear protein 1"", ""CKII beta binding protein 2"", ""CR6 interacting factor 1"", ""p53-responsive gene 6"""	605162				10441517, 12482659	Standard	NM_052850		Approved	PLINP-1, MGC4667, MGC4758, CKBBP2, PRG6, Plinp1, CRIF1, CKbetaBP2	uc002mwb.4	Q8TAE8		ENST00000316939.1:c.416_418delAGC	19.37:g.13065282_13065284delGCT	ENSP00000323065:p.Gln139del						p.QR139del	NM_052850.2	NP_443082.2	Q8TAE8	G45IP_HUMAN			2	439_441	-			139			Poly-Gln.		Q8IVM3|Q8TE51|Q969P9|Q9BSM6	In_Frame_Del	DEL	ENST00000316939.1	37	c.416_418delAGC	CCDS12290.1																																																																																				0.635	GADD45GIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452759.2	NM_052850		7	387						7	387	---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61512380	61512381	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr20:61512380_61512381insG	ENST00000266070.4	-	16	5252_5253	c.4927_4928insC	c.(4927-4929)cgcfs	p.R1643fs	DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.R1643fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1643					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGTGGCGGGGCGGGTGCCCTCC	0.728																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(4927-4929)cccfs		death inducer-obliterator 1																																				SO:0001589	frameshift_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512380_61512381insG	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4928dupC	20.37:g.61512383_61512383dupG	ENSP00000266070:p.Arg1643fs					DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.P1643fs	p.P1643fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	5252_5253	-	Breast(26;5.68e-08)		1643					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Frame_Shift_Ins	INS	ENST00000266070.4	37	c.4927_4928insC	CCDS33506.1																																																																																				0.728	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		8	145						8	145	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11049306	11049307	+	RNA	INS	-	-	T	rs57143135		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr21:11049306_11049307insT	ENST00000470054.1	-	0	659							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATATCCAGTAATTTTTTTAAGT	0.272																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11049306_11049307insT	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11049313_11049313dupT												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	659	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.272	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		7	123						7	123	---	---	---	---
MED15	51586	broad.mit.edu	37	22	20918916	20918918	+	In_Frame_Del	DEL	CAG	CAG	-	rs374794651		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr22:20918916_20918918delCAG	ENST00000263205.7	+	6	700_702	c.631_633delCAG	c.(631-633)cagdel	p.Q218del	MED15_ENST00000425759.2_In_Frame_Del_p.Q107del|MED15_ENST00000541476.1_In_Frame_Del_p.Q192del|MED15_ENST00000292733.7_In_Frame_Del_p.Q218del|MED15_ENST00000382974.2_In_Frame_Del_p.Q147del|MED15_ENST00000406969.1_In_Frame_Del_p.Q192del|MED15_ENST00000542773.1_In_Frame_Del_p.Q23del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	218	Poly-Gln.			Missing (in Ref. 4; CAG30423). {ECO:0000305}.	gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			gcagcagctccagcagcagcagc	0.567											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(631-633)del		mediator complex subunit 15																																				SO:0001651	inframe_deletion	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20918916_20918918delCAG	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.631_633delCAG	22.37:g.20918925_20918927delCAG	ENSP00000263205:p.Gln218del		OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	744	MED15_ENST00000541476.1_In_Frame_Del_p.Q192del|MED15_ENST00000406969.1_In_Frame_Del_p.Q192del|MED15_ENST00000382974.2_In_Frame_Del_p.Q147del|MED15_ENST00000542773.1_In_Frame_Del_p.Q23del|MED15_ENST00000292733.7_In_Frame_Del_p.Q218del|MED15_ENST00000425759.2_In_Frame_Del_p.Q107del	p.Q218del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		6	700_702	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	218	Missing (in Ref. 4; CAG30423).		Poly-Gln.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	In_Frame_Del	DEL	ENST00000263205.7	37	c.631_633delCAG	CCDS33602.1																																																																																				0.567	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		8	129						8	129	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38120029	38120031	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr22:38120029_38120031delCCT	ENST00000406386.3	+	7	1721_1723	c.1466_1468delCCT	c.(1465-1470)gcctcc>gcc	p.S491del		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	491					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AATCCCAGAGCCTCCTCTCCCAG	0.601																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1465-1470)gcc>g		TRIO and F-actin binding protein																																				SO:0001651	inframe_deletion	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120029_38120031delCCT	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1466_1468delCCT	22.37:g.38120032_38120034delCCT	ENSP00000384312:p.Ser491del					RP1-37E16.12_ENST00000455236.1_RNA	p.AS489del	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1721_1723	+	Melanoma(58;0.0574)		489					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	In_Frame_Del	DEL	ENST00000406386.3	37	c.1466_1468delCCT	CCDS43015.1																																																																																				0.601	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			7	406						7	406	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42610776	42610778	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr22:42610776_42610778delTGC	ENST00000359486.3	-	1	670_672	c.534_536delGCA	c.(532-537)cagcaa>caa	p.178_179QQ>Q	TCF20_ENST00000335626.4_In_Frame_Del_p.178_179QQ>Q	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	178	Poly-Gln.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTGCTGGACTTGCTGCTGCTGCT	0.571																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(532-537)caa>ca		transcription factor 20 (AR1)																																				SO:0001651	inframe_deletion	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42610776_42610778delTGC	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.534_536delGCA	22.37:g.42610785_42610787delTGC	ENSP00000352463:p.Gln179del					TCF20_ENST00000335626.4_In_Frame_Del_p.QQ178del	p.QQ178del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	670_672	-			178			Poly-Gln.		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	In_Frame_Del	DEL	ENST00000359486.3	37	c.534_536delGCA	CCDS14033.1																																																																																				0.571	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		10	301						10	301	---	---	---	---
USP26	83844	broad.mit.edu	37	X	132160788	132160788	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chrX:132160788delA	ENST00000511190.1	-	6	1930	c.1461delT	c.(1459-1461)tttfs	p.F487fs	USP26_ENST00000370832.1_Frame_Shift_Del_p.F487fs|USP26_ENST00000406273.1_Frame_Shift_Del_p.F487fs	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	487	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.G488fs*6(2)|p.F487fs*7(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CTTCTGCTCCAAAAAAAAGAT	0.383																																					NSCLC(104;342 1621 36940 47097 52632)	ENST00000511190.1																			3	Insertion - Frameshift(3)	p.G488fs*6(2)|p.F487fs*7(1)	central_nervous_system(3)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60						c.(1459-1461)ttfs		ubiquitin specific peptidase 26							122.0	123.0	122.0					X																	132160788		2203	4300	6503	SO:0001589	frameshift_variant	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132160788delA	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.1461delT	X.37:g.132160788delA	ENSP00000423390:p.Phe487fs					USP26_ENST00000370832.1_Frame_Shift_Del_p.F487fs|USP26_ENST00000406273.1_Frame_Shift_Del_p.F487fs	p.F487fs	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN			6	1930	-	Acute lymphoblastic leukemia(192;0.000127)		487					B9WRT6|Q5H9H4	Frame_Shift_Del	DEL	ENST00000511190.1	37	c.1461delT	CCDS14635.1																																																																																				0.383	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		7	482						7	482	---	---	---	---
