#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
IGSF10	285313	broad.mit.edu	37	3	151171555	151171555	+	Missense_Mutation	SNP	T	T	A			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr3:151171555T>A	ENST00000282466.3	-	3	331	c.332A>T	c.(331-333)aAa>aTa	p.K111I		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	111					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATAGCTCATTTTTAAGACCTA	0.303																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(331-333)aAa>aTa		immunoglobulin superfamily, member 10							64.0	70.0	68.0					3																	151171555		2076	4260	6336	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151171555T>A	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.332A>T	3.37:g.151171555T>A	ENSP00000282466:p.Lys111Ile						p.K111I	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	331	-			111					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.332A>T	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.613634	0.87359	.	.	ENSG00000152580	ENST00000282466	T	0.57273	0.41	5.53	5.53	0.82687	.	0.000000	0.51477	D	0.000096	T	0.55800	0.1943	N	0.11201	0.11	0.52501	D	0.999955	D	0.89917	1.0	D	0.97110	1.0	T	0.65800	-0.6080	10	0.87932	D	0	.	15.6808	0.77367	0.0:0.0:0.0:1.0	.	111	Q6WRI0	IGS10_HUMAN	I	111	ENSP00000282466:K111I	ENSP00000282466:K111I	K	-	2	0	IGSF10	152654245	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.698000	0.84413	2.104000	0.64026	0.528000	0.53228	AAA		0.303	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		4	97	0	0	0	1	0	4	97				
DOPEY2	9980	broad.mit.edu	37	21	37584273	37584273	+	Splice_Site	SNP	A	A	T			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr21:37584273A>T	ENST00000399151.3	+	7	867	c.782A>T	c.(781-783)gAt>gTt	p.D261V	RN7SL73P_ENST00000585239.1_RNA|DOPEY2_ENST00000492760.1_3'UTR	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	261					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTCTAATAGGATTCCAATGAG	0.507																																						ENST00000399151.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.e7-1		dopey family member 2							101.0	87.0	92.0					21																	37584273		2203	4300	6503	SO:0001630	splice_region_variant	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37584273A>T	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.781-1A>T	21.37:g.37584273A>T						DOPEY2_ENST00000492760.1_3'UTR	p.D261_splice	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN			7	867	+			261					D3DSG5|Q6PJQ7|Q9UEZ3	Splice_Site	SNP	ENST00000399151.3	37	c.780_splice	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	A	0.606	-0.826831	0.02734	.	.	ENSG00000142197	ENST00000399151	T	0.13089	2.62	5.23	5.23	0.72850	Dopey, N-terminal (1);	0.046390	0.85682	D	0.000000	T	0.11239	0.0274	L	0.36672	1.1	0.80722	D	1	B;B	0.33807	0.372;0.426	B;B	0.35770	0.109;0.21	T	0.18241	-1.0343	10	0.15066	T	0.55	.	10.3762	0.44083	0.8538:0.0:0.0:0.1462	.	261;261	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	V	261	ENSP00000382104:D261V	ENSP00000382104:D261V	D	+	2	0	DOPEY2	36506143	1.000000	0.71417	0.839000	0.33178	0.075000	0.17131	5.702000	0.68332	1.967000	0.57214	0.533000	0.62120	GAT		0.507	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128	Missense_Mutation	21	72	0	0	0	1	0	21	72				
NUDT7	283927	broad.mit.edu	37	16	77769767	77769767	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr16:77769767C>T	ENST00000268533.5	+	3	301	c.232C>T	c.(232-234)Cgt>Tgt	p.R78C	NUDT7_ENST00000568787.1_Missense_Mutation_p.R78C|NUDT7_ENST00000564085.1_Missense_Mutation_p.R78C|NUDT7_ENST00000437314.3_Intron|NUDT7_ENST00000563839.1_Intron	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	78	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				acetyl-CoA catabolic process (GO:0046356)|brown fat cell differentiation (GO:0050873)|coenzyme A catabolic process (GO:0015938)|nucleoside diphosphate metabolic process (GO:0009132)	peroxisome (GO:0005777)	acetyl-CoA hydrolase activity (GO:0003986)|hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|receptor binding (GO:0005102)|snoRNA binding (GO:0030515)	p.R78C(1)		breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						TGGAGGTAAGCGTGACCCTAC	0.517																																						ENST00000268533.5																			1	Substitution - Missense(1)	p.R78C(1)	large_intestine(1)	breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						c.(232-234)Cgt>Tgt		nudix (nucleoside diphosphate linked moiety X)-type motif 7							151.0	152.0	152.0					16																	77769767		1966	4158	6124	SO:0001583	missense	283927				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding	g.chr16:77769767C>T	AA227330	CCDS42195.1, CCDS58480.1, CCDS58479.1, CCDS73916.1	16q23.1	2007-06-15				ENSG00000140876		"""Nudix motif containing"""	8054	protein-coding gene	gene with protein product		609231				11415433	Standard	NM_001105663		Approved		uc010chd.3	P0C024		ENST00000268533.5:c.232C>T	16.37:g.77769767C>T	ENSP00000268533:p.Arg78Cys					NUDT7_ENST00000568787.1_Missense_Mutation_p.R78C|NUDT7_ENST00000563839.1_Intron|NUDT7_ENST00000564085.1_Missense_Mutation_p.R78C|NUDT7_ENST00000437314.3_Intron	p.R78C	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN			3	301	+			78			Nudix hydrolase.		B4DLE5|H3BUB8	Missense_Mutation	SNP	ENST00000268533.5	37	c.232C>T	CCDS42195.1	.	.	.	.	.	.	.	.	.	.	C	6.320	0.427109	0.11987	.	.	ENSG00000140876	ENST00000268533	T	0.08102	3.13	5.63	-8.6	0.00889	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	1.322150	0.04715	N	0.418236	T	0.06096	0.0158	L	0.31157	0.91	0.09310	N	1	B	0.22604	0.072	B	0.17098	0.017	T	0.36504	-0.9745	10	0.37606	T	0.19	11.9847	11.168	0.48554	0.2835:0.5897:0.0:0.1268	.	78	P0C024	NUDT7_HUMAN	C	78	ENSP00000268533:R78C	ENSP00000268533:R78C	R	+	1	0	NUDT7	76327268	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-1.014000	0.03641	-1.158000	0.02811	-0.225000	0.12378	CGT		0.517	NUDT7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433873.1			12	110	0	0	0	1	0	12	110				
PCDHGA11	56105	broad.mit.edu	37	5	140801597	140801597	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr5:140801597C>T	ENST00000398587.2	+	1	836	c.803C>T	c.(802-804)aCg>aTg	p.T268M	PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.T268M|PCDHGA3_ENST00000253812.6_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	268	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTAATGCAACGGATCCAGAC	0.438																																						ENST00000398587.2																			0				breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49						c.(802-804)aCg>aTg									135.0	137.0	136.0					5																	140801597		1901	4120	6021	SO:0001583	missense	0							g.chr5:140801597C>T	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.803C>T	5.37:g.140801597C>T	ENSP00000381589:p.Thr268Met					PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.T268M|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron	p.T268M	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	836	+								B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	ENST00000398587.2	37	c.803C>T	CCDS47294.1	.	.	.	.	.	.	.	.	.	.	c	15.42	2.828486	0.50845	.	.	ENSG00000253873	ENST00000398587;ENST00000518882	T;T	0.03004	4.08;4.08	5.96	4.14	0.48551	Cadherin (5);Cadherin-like (1);	0.000000	0.29616	U	0.011649	T	0.20333	0.0489	M	0.89658	3.05	0.23872	N	0.996609	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.977;0.991;0.958	T	0.05582	-1.0876	10	0.72032	D	0.01	.	10.2175	0.43177	0.0:0.6795:0.2523:0.0682	.	268;268;268	Q9Y5H2;Q9Y5H2-3;Q9Y5H2-2	PCDGB_HUMAN;.;.	M	268	ENSP00000381589:T268M;ENSP00000428333:T268M	ENSP00000381589:T268M	T	+	2	0	PCDHGA11	140781781	0.008000	0.16893	0.993000	0.49108	0.778000	0.44026	2.026000	0.41069	1.542000	0.49330	0.655000	0.94253	ACG		0.438	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		10	113	0	0	0	1	0	10	113				
HIST1H1A	3024	broad.mit.edu	37	6	26017482	26017482	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr6:26017482G>A	ENST00000244573.3	-	1	558	c.479C>T	c.(478-480)gCg>gTg	p.A160V		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	160					nucleosome assembly (GO:0006334)|spermatogenesis (GO:0007283)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						CCTTGTTGCCGCAGGCTTTTT	0.448																																						ENST00000244573.3																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						c.(478-480)gCg>gTg		histone cluster 1, H1a							167.0	178.0	174.0					6																	26017482		2203	4300	6503	SO:0001583	missense	3024				nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding	g.chr6:26017482G>A	AF531299	CCDS4569.1	6p22.1	2012-11-16	2006-10-11	2003-02-21	ENSG00000124610	ENSG00000124610		"""Histones / Replication-dependent"""	4715	protein-coding gene	gene with protein product		142709	"""H1 histone family, member 1"", ""histone 1, H1a"""	H1F1		2759094, 12408966	Standard	NM_005325		Approved	H1.1, H1a	uc003nfo.3	Q02539	OTTHUMG00000016413	ENST00000244573.3:c.479C>T	6.37:g.26017482G>A	ENSP00000244573:p.Ala160Val						p.A160V	NM_005325.3	NP_005316.1	Q02539	H11_HUMAN			1	558	-			160					Q3MJ34	Missense_Mutation	SNP	ENST00000244573.3	37	c.479C>T	CCDS4569.1	.	.	.	.	.	.	.	.	.	.	N	9.635	1.137347	0.21123	.	.	ENSG00000124610	ENST00000244573	T	0.23754	1.89	4.31	1.54	0.23209	.	0.431115	0.23604	N	0.046403	T	0.06645	0.0170	L	0.34521	1.04	0.50813	D	0.999891	B	0.19445	0.036	B	0.15484	0.013	T	0.18650	-1.0330	10	0.21540	T	0.41	-22.2348	9.2885	0.37771	0.2431:0.0:0.7569:0.0	.	160	Q02539	H11_HUMAN	V	160	ENSP00000244573:A160V	ENSP00000244573:A160V	A	-	2	0	HIST1H1A	26125461	0.998000	0.40836	0.016000	0.15963	0.010000	0.07245	4.716000	0.61916	0.175000	0.19841	-0.208000	0.12717	GCG		0.448	HIST1H1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043884.1	NM_005325		5	185	0	0	0	1	0	5	185				
PLA2G4D	283748	broad.mit.edu	37	15	42363734	42363734	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr15:42363734A>G	ENST00000290472.3	-	16	1683	c.1589T>C	c.(1588-1590)aTt>aCt	p.I530T		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	530	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CAGGGAGAAAATGTTGCTCCA	0.567																																						ENST00000290472.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27						c.(1588-1590)aTt>aCt		phospholipase A2, group IVD (cytosolic)							81.0	71.0	75.0					15																	42363734		2203	4299	6502	SO:0001583	missense	283748				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity	g.chr15:42363734A>G	AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.1589T>C	15.37:g.42363734A>G	ENSP00000290472:p.Ile530Thr						p.I530T	NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)	16	1683	-		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)	530			PLA2c.		Q8N176	Missense_Mutation	SNP	ENST00000290472.3	37	c.1589T>C	CCDS32203.1	.	.	.	.	.	.	.	.	.	.	A	20.0	3.931406	0.73442	.	.	ENSG00000159337	ENST00000290472	T	0.04603	3.59	4.79	4.79	0.61399	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.449602	0.20923	N	0.083250	T	0.10208	0.0250	M	0.73962	2.25	0.25045	N	0.991177	B	0.21905	0.062	B	0.30716	0.119	T	0.07009	-1.0795	10	0.39692	T	0.17	-2.0292	13.3289	0.60475	1.0:0.0:0.0:0.0	.	530	Q86XP0	PA24D_HUMAN	T	530	ENSP00000290472:I530T	ENSP00000290472:I530T	I	-	2	0	PLA2G4D	40151026	1.000000	0.71417	0.998000	0.56505	0.905000	0.53344	6.614000	0.74197	1.798000	0.52647	0.459000	0.35465	ATT		0.567	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034		5	40	0	0	0	1	0	5	40				
WDR33	55339	broad.mit.edu	37	2	128528552	128528552	+	Missense_Mutation	SNP	C	C	G			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr2:128528552C>G	ENST00000322313.4	-	2	162	c.4G>C	c.(4-6)Gct>Cct	p.A2P	WDR33_ENST00000393006.1_Missense_Mutation_p.A2P|WDR33_ENST00000409658.3_Missense_Mutation_p.A2P	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	2					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		ATTTCTGTAGCCATGGTGATG	0.408																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(4-6)Gct>Cct		WD repeat domain 33							73.0	74.0	73.0					2																	128528552		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128528552C>G		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.4G>C	2.37:g.128528552C>G	ENSP00000325377:p.Ala2Pro					WDR33_ENST00000409658.3_Missense_Mutation_p.A2P|WDR33_ENST00000393006.1_Missense_Mutation_p.A2P	p.A2P	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	2	162	-	Colorectal(110;0.1)		2					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.4G>C	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439788	0.83885	.	.	ENSG00000136709	ENST00000322313;ENST00000393006;ENST00000409658;ENST00000408998	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.54	5.54	0.83059	.	0.101382	0.64402	D	0.000002	T	0.56688	0.2002	N	0.08118	0	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.80764	0.991;0.987;0.994	T	0.67413	-0.5677	10	0.87932	D	0	-10.2911	19.4948	0.95067	0.0:1.0:0.0:0.0	.	2;2;2	Q9C0J8-2;Q6NUQ0;Q9C0J8	.;.;WDR33_HUMAN	P	2	ENSP00000325377:A2P;ENSP00000376730:A2P;ENSP00000387186:A2P;ENSP00000386861:A2P	ENSP00000325377:A2P	A	-	1	0	WDR33	128245022	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.694000	0.84235	2.614000	0.88457	0.591000	0.81541	GCT		0.408	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		7	23	0	0	0	1	0	7	23				
SORCS1	114815	broad.mit.edu	37	10	108412204	108412204	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr10:108412204G>A	ENST00000263054.6	-	18	2418	c.2411C>T	c.(2410-2412)aCg>aTg	p.T804M	SORCS1_ENST00000369698.1_Missense_Mutation_p.T339M|SORCS1_ENST00000344440.6_Missense_Mutation_p.T804M	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	804	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCCATCAGCCGTGACTATCCG	0.532																																						ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(2410-2412)aCg>aTg		sortilin-related VPS10 domain containing receptor 1							117.0	106.0	110.0					10																	108412204		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108412204G>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2411C>T	10.37:g.108412204G>A	ENSP00000263054:p.Thr804Met					SORCS1_ENST00000344440.6_Missense_Mutation_p.T804M|SORCS1_ENST00000369698.1_Missense_Mutation_p.T339M	p.T804M	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	18	2418	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	804			PKD.		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.2411C>T	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231893	0.58777	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.69561	-0.41;-0.41;-0.41	5.74	5.74	0.90152	PKD/Chitinase domain (1);PKD domain (1);	0.000000	0.85682	D	0.000000	T	0.80924	0.4717	L	0.61218	1.895	0.54753	D	0.999989	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.993;0.997;0.998;0.997	T	0.78580	-0.2149	9	.	.	.	-17.2727	19.9145	0.97053	0.0:0.0:1.0:0.0	.	804;804;804;804;804	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	M	339;804;804	ENSP00000358712:T339M;ENSP00000263054:T804M;ENSP00000345964:T804M	.	T	-	2	0	SORCS1	108402194	1.000000	0.71417	0.959000	0.39883	0.138000	0.21146	9.277000	0.95755	2.709000	0.92574	0.655000	0.94253	ACG		0.532	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		7	63	0	0	0	1	0	7	63				
FLT3	2322	broad.mit.edu	37	13	28609787	28609787	+	Missense_Mutation	SNP	C	C	G			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr13:28609787C>G	ENST00000241453.7	-	12	1523	c.1442G>C	c.(1441-1443)gGa>gCa	p.G481A	FLT3_ENST00000537084.1_Missense_Mutation_p.G481A|FLT3_ENST00000380982.4_Missense_Mutation_p.G481A	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	481					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATTCCAGACTCCTTCTGTGAT	0.428			"""Mis, O"""		"""AML, ALL"""																																	ENST00000380982.4				Dom	yes		13	13q12	2322	"""Mis, O"""	fms-related tyrosine kinase 3			L			"""AML, ALL"""		0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390						c.(1441-1443)gGa>gCa		fms-related tyrosine kinase 3	Sorafenib(DB00398)|Sunitinib(DB01268)						157.0	137.0	144.0					13																	28609787		2203	4300	6503	SO:0001583	missense	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28609787C>G	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1442G>C	13.37:g.28609787C>G	ENSP00000241453:p.Gly481Ala					FLT3_ENST00000241453.7_Missense_Mutation_p.G481A|FLT3_ENST00000537084.1_Missense_Mutation_p.G481A	p.G481A			P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	12	1523	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	481					A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	c.1442G>C	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.915344	0.33815	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.77489	-1.03;-1.1;-0.83	5.13	5.13	0.70059	.	0.086880	0.50627	D	0.000117	T	0.69611	0.3130	N	0.24115	0.695	0.41774	D	0.989783	P;B	0.51537	0.946;0.209	P;B	0.45639	0.488;0.02	T	0.68375	-0.5425	10	0.23891	T	0.37	.	17.1257	0.86713	0.0:1.0:0.0:0.0	.	481;481	P36888-2;P36888	.;FLT3_HUMAN	A	481	ENSP00000241453:G481A;ENSP00000370369:G481A;ENSP00000438139:G481A	ENSP00000241453:G481A	G	-	2	0	FLT3	27507787	0.996000	0.38824	0.954000	0.39281	0.251000	0.25915	3.726000	0.54977	2.552000	0.86080	0.655000	0.94253	GGA		0.428	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			6	51	0	0	0	1	0	6	51				
GNAS	2778	broad.mit.edu	37	20	57415578	57415578	+	Silent	SNP	C	C	T	rs148044699		TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr20:57415578C>T	ENST00000313949.7	+	1	806	c.417C>T	c.(415-417)acC>acT	p.T139T	GNAS-AS1_ENST00000443966.1_RNA|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371075.3_Silent_p.T139T|GNAS_ENST00000371098.2_Silent_p.T139T|GNAS-AS1_ENST00000424094.2_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGCCCGAGACCGAGCCTGAAG	0.652			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000313949.7				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""	E			pituitary adenoma		0				adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(415-417)acC>acT		GNAS complex locus							79.0	73.0	75.0					20																	57415578		2203	4300	6503	SO:0001819	synonymous_variant	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57415578C>T	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000313949.7:c.417C>T	20.37:g.57415578C>T		TSP Lung(22;0.16)				GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371098.2_Silent_p.T139T|GNAS_ENST00000371075.3_Silent_p.T139T	p.T139T			P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	806	+	all_lung(29;0.0104)		0					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Silent	SNP	ENST00000313949.7	37	c.417C>T	CCDS13471.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.364675	0.24684	.	.	ENSG00000087460	ENST00000419558	.	.	.	5.14	3.07	0.35406	.	.	.	.	.	T	0.54822	0.1882	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50693	-0.8798	4	.	.	.	.	6.3331	0.21281	0.0:0.7128:0.1877:0.0995	.	.	.	.	L	7	.	.	P	+	2	0	GNAS	56848973	0.993000	0.37304	1.000000	0.80357	0.959000	0.62525	-0.021000	0.12504	1.307000	0.44944	0.585000	0.79938	CCG		0.652	GNAS-002	KNOWN	NMD_exception|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080418.7	NM_000516		6	53	0	0	0	1	0	6	53				
RTF1	23168	broad.mit.edu	37	15	41766891	41766891	+	Missense_Mutation	SNP	T	T	A			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr15:41766891T>A	ENST00000389629.4	+	9	1289	c.1277T>A	c.(1276-1278)cTg>cAg	p.L426Q		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	426	Plus3. {ECO:0000255|PROSITE- ProRule:PRU00693}.				DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		AACAAAGGGCTGCAACTACGG	0.517																																						ENST00000389629.4																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18						c.(1276-1278)cTg>cAg		Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)							151.0	148.0	149.0					15																	41766891		2203	4300	6503	SO:0001583	missense	23168				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding	g.chr15:41766891T>A	D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"""KIAA0252"""	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.1277T>A	15.37:g.41766891T>A	ENSP00000374280:p.Leu426Gln						p.L426Q	NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)	9	1289	+		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	426			Plus3.		Q96BX6	Missense_Mutation	SNP	ENST00000389629.4	37	c.1277T>A	CCDS32200.2	.	.	.	.	.	.	.	.	.	.	T	25.9	4.687974	0.88639	.	.	ENSG00000137815	ENST00000389629	.	.	.	5.6	5.6	0.85130	Plus-3 domain, subgroup (1);Plus-3 (2);	0.000000	0.85682	D	0.000000	D	0.86280	0.5895	M	0.93808	3.46	0.80722	D	1	D	0.65815	0.995	D	0.81914	0.995	D	0.89940	0.4072	9	0.87932	D	0	-6.8681	15.7961	0.78412	0.0:0.0:0.0:1.0	.	426	Q92541	RTF1_HUMAN	Q	426	.	ENSP00000374280:L426Q	L	+	2	0	RTF1	39554183	1.000000	0.71417	0.987000	0.45799	0.956000	0.61745	7.698000	0.84413	2.131000	0.65755	0.533000	0.62120	CTG		0.517	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	NM_015138		21	74	0	0	0	1	0	21	74				
KIF18B	146909	broad.mit.edu	37	17	43006319	43006319	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr17:43006319C>T	ENST00000593135.1	-	12	1688	c.1591G>A	c.(1591-1593)Gac>Aac	p.D531N	KIF18B_ENST00000339151.4_Missense_Mutation_p.D543N|KIF18B_ENST00000590129.1_Missense_Mutation_p.D552N|KIF18B_ENST00000438933.2_Missense_Mutation_p.D543N|KIF18B_ENST00000587309.1_Missense_Mutation_p.D543N	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	552					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GTGATCATGTCGGGCGTCAGG	0.592																																						ENST00000587309.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21						c.(1627-1629)Gac>Aac		kinesin family member 18B							70.0	69.0	69.0					17																	43006319		2012	4179	6191	SO:0001583	missense	146909							g.chr17:43006319C>T		CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"""Kinesins"""	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.1591G>A	17.37:g.43006319C>T	ENSP00000465992:p.Asp531Asn					KIF18B_ENST00000438933.2_Missense_Mutation_p.D543N|KIF18B_ENST00000339151.4_Missense_Mutation_p.D543N|KIF18B_ENST00000590129.1_Missense_Mutation_p.D552N|KIF18B_ENST00000593135.1_Missense_Mutation_p.D531N	p.D543N	NM_001264573.1	NP_001251503.1					12	1650	-		Prostate(33;0.155)						A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP	ENST00000593135.1	37	c.1627G>A	CCDS45709.2	.	.	.	.	.	.	.	.	.	.	C	24.5	4.538911	0.85917	.	.	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.61859	0.07;0.07	5.17	5.17	0.71159	.	.	.	.	.	T	0.75206	0.3818	M	0.72118	2.19	0.38394	D	0.945483	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.998	T	0.78409	-0.2215	9	0.59425	D	0.04	.	16.63	0.85031	0.0:1.0:0.0:0.0	.	552;540;552	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	N	543	ENSP00000412798:D543N;ENSP00000341466:D543N	ENSP00000341466:D543N	D	-	1	0	KIF18B	40361845	0.996000	0.38824	0.978000	0.43139	0.709000	0.40893	4.292000	0.59031	2.695000	0.91970	0.561000	0.74099	GAC		0.592	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443		8	19	0	0	0	1	0	8	19				
SETD4	54093	broad.mit.edu	37	21	37408549	37408549	+	Splice_Site	SNP	C	C	G			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr21:37408549C>G	ENST00000399215.1	-	10	2561	c.1189G>C	c.(1189-1191)Gtg>Ctg	p.V397L	SETD4_ENST00000399212.1_Splice_Site_p.V373L|SETD4_ENST00000481477.1_5'UTR|AP000688.1_ENST00000600312.1_Intron|SETD4_ENST00000332131.4_Splice_Site_p.V397L			Q9NVD3	SETD4_HUMAN	SET domain containing 4	397				EILVKYLPSTDKQMDKKISILKDHGYIENLTFGWDGPSWRL LTALKLLCLEAEKFTCWKKVLLGEVISDTNEKTSLDIAQKI CYYFIEETNAVLQKVSHMKDEKEALINQLTLVESLWTEELK ILRASAETLHSLQTAFT -> GWNQLCS (in Ref. 5; AAH02898). {ECO:0000305}.			methyltransferase activity (GO:0008168)			autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						ATATGAGACACCTGAAAGTTA	0.348																																						ENST00000399215.1																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						c.e10-1		SET domain containing 4							72.0	71.0	72.0					21																	37408549		2203	4300	6503	SO:0001630	splice_region_variant	54093							g.chr21:37408549C>G	AK001660	CCDS13640.1, CCDS42923.1, CCDS74791.1, CCDS74792.1	21q22.13	2006-02-15	2006-02-15	2006-02-15	ENSG00000185917	ENSG00000185917			1258	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 27"", ""chromosome 21 open reading frame 18"""	C21orf27, C21orf18			Standard	XM_005261000		Approved		uc021wiy.1	Q9NVD3	OTTHUMG00000086483	ENST00000399215.1:c.1189-1G>C	21.37:g.37408549C>G						SETD4_ENST00000399212.1_Splice_Site_p.V373_splice|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000332131.4_Splice_Site_p.V397_splice|AP000688.1_ENST00000600312.1_Intron	p.V397_splice			Q9NVD3	SETD4_HUMAN			10	2561	-			397	EILVKYLPSTDKQMDKKISILKDHGYIENLTFGWDGPSWRL LTALKLLCLEAEKFTCWKKVLLGEVISDTNEKTSLDIAQKI CYYFIEETNAVLQKVSHMKDEKEALINQLTLVESLWTEELK ILRASAETLHSLQTAFT -> GWNQLCS (in Ref. 5; AAH02898).				B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46	Splice_Site	SNP	ENST00000399215.1	37	c.1188_splice	CCDS13640.1	.	.	.	.	.	.	.	.	.	.	C	9.257	1.042219	0.19748	.	.	ENSG00000185917	ENST00000399215;ENST00000399212;ENST00000332131	T;T;T	0.16196	2.36;2.36;2.36	5.63	0.528	0.17089	Rubisco LS methyltransferase, substrate-binding domain (1);	0.559355	0.18825	N	0.130160	T	0.12475	0.0303	L	0.48362	1.52	0.80722	D	1	B;B	0.20164	0.034;0.042	B;B	0.21708	0.021;0.036	T	0.14144	-1.0483	10	0.08837	T	0.75	-2.9596	9.2463	0.37527	0.0:0.5197:0.0:0.4803	.	373;397	Q9NVD3-3;Q9NVD3	.;SETD4_HUMAN	L	397;373;397	ENSP00000382163:V397L;ENSP00000382161:V373L;ENSP00000329189:V397L	ENSP00000329189:V397L	V	-	1	0	SETD4	36330419	0.992000	0.36948	0.991000	0.47740	0.134000	0.20937	0.033000	0.13754	0.275000	0.22094	0.563000	0.77884	GTG		0.348	SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194456.1	NM_017438	Missense_Mutation	14	107	0	0	0	1	0	14	107				
NKAIN3	286183	broad.mit.edu	37	8	63659613	63659613	+	Silent	SNP	C	C	T			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr8:63659613C>T	ENST00000523211.1	+	4	528	c.396C>T	c.(394-396)taC>taT	p.Y132Y	NKAIN3_ENST00000328472.5_Silent_p.Y132Y|NKAIN3_ENST00000519049.1_3'UTR	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				ATTACACGTACGTCTCTGTCA	0.493																																						ENST00000523211.1																			0				kidney(3)|large_intestine(2)|lung(8)	13						c.(394-396)taC>taT		Na+/K+ transporting ATPase interacting 3							131.0	132.0	132.0					8																	63659613		2094	4224	6318	SO:0001819	synonymous_variant	286183					integral to membrane|plasma membrane		g.chr8:63659613C>T	AK096949	CCDS55239.1	8q12.3	2014-08-12	2007-10-04	2007-10-04	ENSG00000185942	ENSG00000185942		"""Na+/K+ transporting ATPase interacting"""	26829	protein-coding gene	gene with protein product		612872	"""family with sequence similarity 77, member D"""	FAM77D		17606467	Standard	NM_173688		Approved	FLJ39630	uc010lyq.1	Q8N8D7	OTTHUMG00000164361	ENST00000523211.1:c.396C>T	8.37:g.63659613C>T						NKAIN3_ENST00000328472.5_Silent_p.Y132Y|NKAIN3_ENST00000519049.1_3'UTR	p.Y132Y	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN			4	528	+	Breast(64;0.127)	Lung NSC(129;0.187)	132						Silent	SNP	ENST00000523211.1	37	c.396C>T	CCDS55239.1																																																																																				0.493	NKAIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378447.2	NM_173688		10	60	0	0	0	1	0	10	60				
EBAG9	9166	broad.mit.edu	37	8	110563058	110563058	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr8:110563058C>T	ENST00000337573.5	+	2	305	c.5C>T	c.(4-6)gCc>gTc	p.A2V	EBAG9_ENST00000531677.1_Missense_Mutation_p.A2V|EBAG9_ENST00000395785.2_Missense_Mutation_p.A2V|EBAG9_ENST00000529502.1_3'UTR	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	2					regulation of cell growth (GO:0001558)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	peptidase activator activity involved in apoptotic process (GO:0016505)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			CCCACCATGGCCATCACCCAG	0.348																																						ENST00000337573.5																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10						c.(4-6)gCc>gTc		estrogen receptor binding site associated, antigen, 9							81.0	73.0	75.0					8																	110563058		2203	4299	6502	SO:0001583	missense	9166				apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity	g.chr8:110563058C>T	AB007619	CCDS6313.1	8q23	2013-03-07			ENSG00000147654	ENSG00000147654			3123	protein-coding gene	gene with protein product		605772					Standard	NM_004215		Approved	EB9, RCAS1	uc003ynf.3	O00559	OTTHUMG00000165346	ENST00000337573.5:c.5C>T	8.37:g.110563058C>T	ENSP00000337675:p.Ala2Val					EBAG9_ENST00000531677.1_Missense_Mutation_p.A2V|EBAG9_ENST00000395785.2_Missense_Mutation_p.A2V|EBAG9_ENST00000529502.1_3'UTR	p.A2V	NM_004215.3	NP_004206.1	O00559	RCAS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)		2	305	+			2					A8K3N6|Q5Y8C7|Q6IB20|Q9BS76	Missense_Mutation	SNP	ENST00000337573.5	37	c.5C>T	CCDS6313.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802582	0.90623	.	.	ENSG00000147654	ENST00000395785;ENST00000337573;ENST00000530629;ENST00000534318;ENST00000531677	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.66167	0.2762	M	0.70595	2.14	0.80722	D	1	P	0.42296	0.775	B	0.41412	0.356	T	0.70274	-0.4917	9	0.62326	D	0.03	-11.0436	17.4978	0.87723	0.0:1.0:0.0:0.0	.	2	O00559	RCAS1_HUMAN	V	2	.	ENSP00000337675:A2V	A	+	2	0	EBAG9	110632234	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.380000	0.79704	2.880000	0.98712	0.650000	0.86243	GCC		0.348	EBAG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383536.1	NM_004215		3	43	0	0	0	1	0	3	43				
FRAS1	80144	broad.mit.edu	37	4	79369379	79369379	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr4:79369379C>A	ENST00000264895.6	+	44	6623	c.6183C>A	c.(6181-6183)caC>caA	p.H2061Q		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2061					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATGGCCTCCACGTGGACACAG	0.542																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(6181-6183)caC>caA		Fraser syndrome 1							115.0	114.0	115.0					4																	79369379		2040	4185	6225	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79369379C>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.6183C>A	4.37:g.79369379C>A	ENSP00000264895:p.His2061Gln						p.H2061Q	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			44	6623	+			2060					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.6183C>A	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.13|14.13	2.443443|2.443443	0.43429|0.43429	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.15139|.	2.45|.	5.68|5.68	0.0521|0.0521	0.14300|0.14300	.|.	0.177707|.	0.51477|.	D|.	0.000088|.	T|T	0.71443|0.71443	0.3340|0.3340	M|M	0.78916|0.78916	2.43|2.43	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	P|.	0.55112|.	0.769|.	T|T	0.71213|0.71213	-0.4659|-0.4659	10|5	0.72032|.	D|.	0.01|.	.|.	12.8182|12.8182	0.57677|0.57677	0.0:0.7899:0.0:0.2101|0.0:0.7899:0.0:0.2101	.|.	2061|.	E9PHH6|.	.|.	Q|S	2061|290	ENSP00000264895:H2061Q|.	ENSP00000264895:H2061Q|.	H|R	+|+	3|1	2|0	FRAS1|FRAS1	79588403|79588403	0.992000|0.992000	0.36948|0.36948	0.275000|0.275000	0.24674|0.24674	0.083000|0.083000	0.17756|0.17756	1.367000|1.367000	0.34204|0.34204	-0.029000|-0.029000	0.13827|0.13827	-0.482000|-0.482000	0.04802|0.04802	CAC|CGT		0.542	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				8	21	1	0	2.17888e-05	1	2.33909e-05	8	21				
CCDC116	164592	broad.mit.edu	37	22	21989079	21989079	+	Missense_Mutation	SNP	T	T	G			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr22:21989079T>G	ENST00000292779.3	+	4	888	c.727T>G	c.(727-729)Tca>Gca	p.S243A	CCDC116_ENST00000607942.1_Missense_Mutation_p.S243A	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	243										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					GTCCTGGTTCTCAGGGCTGCT	0.592																																						ENST00000292779.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22						c.(727-729)Tca>Gca		coiled-coil domain containing 116							88.0	93.0	92.0					22																	21989079		2203	4300	6503	SO:0001583	missense	164592							g.chr22:21989079T>G	BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.727T>G	22.37:g.21989079T>G	ENSP00000292779:p.Ser243Ala						p.S243A	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN			4	888	+	Colorectal(54;0.105)		243					Q8N9Y9	Missense_Mutation	SNP	ENST00000292779.3	37	c.727T>G	CCDS13791.1	.	.	.	.	.	.	.	.	.	.	T	6.494	0.459264	0.12342	.	.	ENSG00000161180	ENST00000292779	T	0.15487	2.42	4.42	0.677	0.17964	.	0.322581	0.22750	N	0.056083	T	0.10252	0.0251	N	0.24115	0.695	0.22639	N	0.998901	B;B	0.31910	0.229;0.346	B;B	0.35278	0.199;0.142	T	0.19257	-1.0311	10	0.72032	D	0.01	-54.6265	4.3545	0.11172	0.3557:0.0:0.1839:0.4605	.	243;243	B7Z7H5;Q8IYX3-2	.;.	A	243	ENSP00000292779:S243A	ENSP00000292779:S243A	S	+	1	0	CCDC116	20319079	0.928000	0.31464	0.948000	0.38648	0.051000	0.14879	0.381000	0.20619	0.275000	0.22094	-0.769000	0.03391	TCA		0.592	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1	NM_152612		27	66	0	0	0	1	0	27	66				
KLK4	9622	broad.mit.edu	37	19	51412615	51412615	+	Silent	SNP	C	C	T			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr19:51412615C>T	ENST00000324041.1	-	2	116	c.117G>A	c.(115-117)ccG>ccA	p.P39P	KLK4_ENST00000431178.2_5'Flank|KLK4_ENST00000597441.1_5'Flank	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	39	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amelogenesis (GO:0097186)|extracellular matrix disassembly (GO:0022617)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GCTGCGAGTGCGGGCTGCAGT	0.637																																						ENST00000324041.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19						c.(115-117)ccG>ccA		kallikrein-related peptidase 4							136.0	150.0	145.0					19																	51412615		2203	4300	6503	SO:0001819	synonymous_variant	9622				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr19:51412615C>T	AF113141	CCDS12809.1	19q13.41	2014-09-04	2006-10-27		ENSG00000167749	ENSG00000167749		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6365	protein-coding gene	gene with protein product		603767	"""kallikrein 4 (prostase, enamel matrix, prostate)"""	PRSS17		10077646, 10438493, 16800724, 10863090, 9465170	Standard	XM_005259441		Approved	EMSP, EMSP1, PSTS, KLK-L1	uc002pua.1	Q9Y5K2	OTTHUMG00000182964	ENST00000324041.1:c.117G>A	19.37:g.51412615C>T							p.P39P	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)	2	116	-		all_neural(266;0.026)	39			Peptidase S1.		Q4VB16|Q96RU5|Q9GZL6|Q9UBJ6	Silent	SNP	ENST00000324041.1	37	c.117G>A	CCDS12809.1																																																																																				0.637	KLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464449.1	NM_004917		4	212	0	0	0	1	0	4	212				
OR10G7	390265	broad.mit.edu	37	11	123909325	123909325	+	Silent	SNP	C	C	T			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr11:123909325C>T	ENST00000330487.5	-	1	392	c.384G>A	c.(382-384)ccG>ccA	p.P128P		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P128P(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGTACCTGAGCGGGTAACTGA	0.562																																						ENST00000330487.5																			1	Substitution - coding silent(1)	p.P128P(1)	lung(1)	central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47						c.(382-384)ccG>ccA		olfactory receptor, family 10, subfamily G, member 7							172.0	159.0	163.0					11																	123909325		2200	4299	6499	SO:0001819	synonymous_variant	390265				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123909325C>T	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.384G>A	11.37:g.123909325C>T							p.P128P	NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	392	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	128					Q6IFE8	Silent	SNP	ENST00000330487.5	37	c.384G>A	CCDS31705.1																																																																																				0.562	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		15	136	0	0	0	1	0	15	136				
RAD54B	25788	broad.mit.edu	37	8	95403998	95403998	+	Nonsense_Mutation	SNP	G	G	A	rs377463964		TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr8:95403998G>A	ENST00000336148.5	-	10	1772	c.1648C>T	c.(1648-1650)Cga>Tga	p.R550*		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	550					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			GCTCCTGGTCGGCAAAAGACA	0.393								Direct reversal of damage;Homologous recombination																														ENST00000336148.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1648-1650)Cga>Tga	Direct reversal of damage;Homologous recombination	RAD54 homolog B (S. cerevisiae)		G	stop/ARG,stop/ARG	0,4406		0,0,2203	120.0	126.0	124.0		1096,1648	4.1	1.0	8		124	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained	RAD54B	NM_001205263.1,NM_012415.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	366/727,550/911	95403998	1,13005	2203	4300	6503	SO:0001587	stop_gained	25788				double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	g.chr8:95403998G>A	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.1648C>T	8.37:g.95403998G>A	ENSP00000336606:p.Arg550*						p.R550*	NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		10	1772	-	Breast(36;4.5e-05)		0					F6WBS8	Nonsense_Mutation	SNP	ENST00000336148.5	37	c.1648C>T	CCDS6262.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797993	0.90538	0.0	1.16E-4	ENSG00000197275	ENST00000336148;ENST00000546218	.	.	.	4.96	4.08	0.47627	.	0.595728	0.18049	N	0.153376	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.376	13.6236	0.62150	0.0755:0.0:0.9245:0.0	.	.	.	.	X	550;222	.	ENSP00000336606:R550X	R	-	1	2	RAD54B	95473174	1.000000	0.71417	0.998000	0.56505	0.719000	0.41307	2.895000	0.48648	1.206000	0.43276	-0.145000	0.13849	CGA		0.393	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415		65	98	0	0	0	1	0	65	98				
CENPL	91687	broad.mit.edu	37	1	173776622	173776622	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr1:173776622A>G	ENST00000345664.6	-	3	416	c.203T>C	c.(202-204)cTg>cCg	p.L68P	Y_RNA_ENST00000516548.1_RNA|CENPL_ENST00000356198.2_Missense_Mutation_p.L68P|CENPL_ENST00000367710.3_Missense_Mutation_p.L68P	NM_001171182.1	NP_001164653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	68					mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						CTGTTTATGCAGAAGGAATGC	0.294																																						ENST00000356198.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						c.(202-204)cTg>cCg		centromere protein L							35.0	39.0	38.0					1																	173776622		2200	4294	6494	SO:0001583	missense	91687				mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus		g.chr1:173776622A>G	BC033154, BC019022, AK055606	CCDS30938.1, CCDS44277.1	1q25.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000120334	ENSG00000120334			17879	protein-coding gene	gene with protein product		611503	"""chromosome 1 open reading frame 155"""	C1orf155		16622420, 16622419	Standard	NM_033319		Approved	dJ383J4.3, FLJ31044	uc001gje.4	Q8N0S6	OTTHUMG00000034802	ENST00000345664.6:c.203T>C	1.37:g.173776622A>G	ENSP00000323543:p.Leu68Pro					CENPL_ENST00000367710.3_Missense_Mutation_p.L68P|CENPL_ENST00000345664.6_Missense_Mutation_p.L68P	p.L68P	NM_001127181.2	NP_001120653.1	Q8N0S6	CENPL_HUMAN			4	488	-			68					Q5TEL5|Q96ND4	Missense_Mutation	SNP	ENST00000345664.6	37	c.203T>C	CCDS30938.1	.	.	.	.	.	.	.	.	.	.	A	19.00	3.742034	0.69418	.	.	ENSG00000120334	ENST00000356198;ENST00000345664;ENST00000367710	T;T;T	0.55930	1.03;0.49;0.49	5.63	4.49	0.54785	.	0.150236	0.43919	D	0.000513	T	0.59891	0.2227	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;0.979	D;P	0.91635	0.999;0.733	T	0.65994	-0.6033	10	0.87932	D	0	-2.6783	12.2763	0.54737	0.8579:0.1421:0.0:0.0	.	68;68	Q8N0S6-2;Q8N0S6	.;CENPL_HUMAN	P	68	ENSP00000348527:L68P;ENSP00000323543:L68P;ENSP00000356683:L68P	ENSP00000323543:L68P	L	-	2	0	CENPL	172043245	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	7.657000	0.83745	1.059000	0.40554	0.533000	0.62120	CTG		0.294	CENPL-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084213.1	NM_033319		15	37	0	0	0	1	0	15	37				
LTBP4	8425	broad.mit.edu	37	19	41112152	41112152	+	Missense_Mutation	SNP	A	A	C			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr19:41112152A>C	ENST00000308370.7	+	8	1008	c.1008A>C	c.(1006-1008)agA>agC	p.R336S	LTBP4_ENST00000204005.9_Missense_Mutation_p.R299S|LTBP4_ENST00000545697.1_5'UTR|LTBP4_ENST00000602240.1_3'UTR|RN7SL758P_ENST00000580450.1_RNA|LTBP4_ENST00000396819.3_Missense_Mutation_p.R269S	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	336	TB 1.				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)			ACTCCGAAAGAGTGAGCGCCC	0.632																																						ENST00000308370.7																			0				central_nervous_system(1)	1						c.(1006-1008)agA>agC		latent transforming growth factor beta binding protein 4							19.0	21.0	21.0					19																	41112152		1952	4136	6088	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.chr19:41112152A>C	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.1008A>C	19.37:g.41112152A>C	ENSP00000311905:p.Arg336Ser					LTBP4_ENST00000545697.1_5'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.R299S|LTBP4_ENST00000396819.3_Missense_Mutation_p.R269S|LTBP4_ENST00000602240.1_3'UTR	p.R336S	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		8	1008	+			336			TB 1.		O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37	c.1008A>C		.	.	.	.	.	.	.	.	.	.	A	7.515	0.655461	0.14580	.	.	ENSG00000090006	ENST00000204005;ENST00000308370;ENST00000396819	D;D;D	0.92099	-2.97;-2.97;-2.97	3.63	1.42	0.22433	Matrix fibril-associated (2);	0.946895	0.08560	U	0.927643	D	0.82595	0.5071	N	0.22421	0.69	0.09310	N	0.999995	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.002;0.003;0.003	T	0.66689	-0.5860	10	0.19590	T	0.45	.	2.7698	0.05330	0.5763:0.0:0.2313:0.1924	.	269;336;299	E7EUU1;Q8N2S1;E7ENG9	.;LTBP4_HUMAN;.	S	299;336;269	ENSP00000204005:R299S;ENSP00000311905:R336S;ENSP00000380031:R269S	ENSP00000204005:R299S	R	+	3	2	LTBP4	45803992	0.000000	0.05858	0.001000	0.08648	0.047000	0.14425	-0.524000	0.06222	0.470000	0.27294	0.254000	0.18369	AGA		0.632	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		3	8	0	0	0	1	0	3	8				
GTPBP10	85865	broad.mit.edu	37	7	89982131	89982131	+	Splice_Site	SNP	A	A	G			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr7:89982131A>G	ENST00000222511.6	+	2	101	c.35A>G	c.(34-36)tAt>tGt	p.Y12C	GTPBP10_ENST00000257659.8_Splice_Site_p.Y12C	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	12					ribosome biogenesis (GO:0042254)	chromosome (GO:0005694)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						TTTTTTAAGTATGGAAATTTC	0.368											OREG0003797	type=REGULATORY REGION|Gene=BC021573|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000222511.6																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						c.e2-1		GTP-binding protein 10 (putative)							81.0	82.0	82.0					7																	89982131		2203	4300	6503	SO:0001630	splice_region_variant	85865				ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding	g.chr7:89982131A>G		CCDS5617.1, CCDS43614.1	7q21.13	2006-08-15			ENSG00000105793	ENSG00000105793			25106	protein-coding gene	gene with protein product		610920				12477932	Standard	NM_001042717		Approved	DKFZP686A10121, FLJ38242	uc003ukm.2	A4D1E9	OTTHUMG00000023655	ENST00000222511.6:c.34-1A>G	7.37:g.89982131A>G			OREG0003797	type=REGULATORY REGION|Gene=BC021573|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1271	GTPBP10_ENST00000257659.8_Splice_Site_p.Y12_splice	p.Y12_splice	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN			2	101	+			12					B4DFY6|Q3B7A6|Q5H9V2|Q8IXG8|Q8N982|Q8WU16|Q9BSP1|Q9Y6T6	Splice_Site	SNP	ENST00000222511.6	37	c.33_splice	CCDS5617.1	.	.	.	.	.	.	.	.	.	.	A	18.01	3.527515	0.64860	.	.	ENSG00000105793	ENST00000426366;ENST00000450619;ENST00000257659;ENST00000222511;ENST00000417207	T;T;T;T;T	0.31510	2.28;2.26;1.83;2.74;1.49	6.07	3.65	0.41850	.	0.058178	0.64402	D	0.000001	T	0.49660	0.1570	M	0.70595	2.14	0.54753	D	0.999985	D;D;D;D	0.89917	1.0;0.996;0.996;0.999	D;P;P;P	0.77004	0.989;0.838;0.871;0.873	T	0.40346	-0.9568	9	.	.	.	-2.4004	8.4856	0.33069	0.8188:0.0:0.0639:0.1173	.	12;12;3;29	A4D1E9-2;A4D1E9;C9J8R7;C9JNI1	.;GTPBA_HUMAN;.;.	C	3;29;12;12;12	ENSP00000405697:Y3C;ENSP00000389510:Y29C;ENSP00000257659:Y12C;ENSP00000222511:Y12C;ENSP00000416596:Y12C	.	Y	+	2	0	GTPBP10	89820067	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	4.695000	0.61767	0.499000	0.27970	0.477000	0.44152	TAT		0.368	GTPBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059976.3	NM_033107	Missense_Mutation	3	16	0	0	0	1	0	3	16				
CDHR2	54825	broad.mit.edu	37	5	176003117	176003117	+	Silent	SNP	C	C	T	rs141872147		TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr5:176003117C>T	ENST00000510636.1	+	12	1399	c.1125C>T	c.(1123-1125)taC>taT	p.Y375Y	CDHR2_ENST00000261944.5_Silent_p.Y375Y|CDHR2_ENST00000506348.1_Silent_p.Y375Y	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	375	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TCACTGGCTACGTGGACGAGC	0.617																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(1123-1125)taC>taT		cadherin-related family member 2		C	,	0,4406		0,0,2203	115.0	96.0	102.0		1125,1125	-2.5	0.7	5	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CDHR2	NM_001171976.1,NM_017675.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	375/1311,375/1311	176003117	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176003117C>T	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1125C>T	5.37:g.176003117C>T						CDHR2_ENST00000506348.1_Silent_p.Y375Y|CDHR2_ENST00000261944.5_Silent_p.Y375Y	p.Y375Y	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			12	1399	+			375			Cadherin 4.		A1L3U4|A6NC80|Q9NXP8	Silent	SNP	ENST00000510636.1	37	c.1125C>T	CCDS34297.1																																																																																				0.617	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		12	36	0	0	0	1	0	12	36				
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs200214744|rs565505867	byFrequency	TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	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			4	29	0	0	0	1	0	4	29				
PDE12	201626	broad.mit.edu	37	3	57545515	57545515	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr3:57545515C>A	ENST00000311180.8	+	3	1717	c.1614C>A	c.(1612-1614)ttC>ttA	p.F538L	PDE12_ENST00000487257.1_3'UTR	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	538					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		CACATTTCTTCAAGCTGAAAA	0.398																																					Colon(125;308 1634 19198 50622 50717)	ENST00000311180.8																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(1612-1614)ttC>ttA		phosphodiesterase 12							236.0	223.0	228.0					3																	57545515		2203	4300	6503	SO:0001583	missense	201626						hydrolase activity	g.chr3:57545515C>A	AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"""2'-phosphodiesterase"""					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.1614C>A	3.37:g.57545515C>A	ENSP00000309142:p.Phe538Leu					PDE12_ENST00000487257.1_3'UTR	p.F538L	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)	3	1717	+			538					B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Missense_Mutation	SNP	ENST00000311180.8	37	c.1614C>A	CCDS33772.1	.	.	.	.	.	.	.	.	.	.	C	7.592	0.671028	0.14776	.	.	ENSG00000174840	ENST00000311180	D	0.95482	-3.72	5.84	3.07	0.35406	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	D	0.89777	0.6813	L	0.31120	0.905	0.58432	D	0.999999	B	0.06786	0.001	B	0.14578	0.011	T	0.80763	-0.1237	10	0.19147	T	0.46	-14.1195	8.9679	0.35887	0.0:0.7311:0.1346:0.1342	.	538	Q6L8Q7	PDE12_HUMAN	L	538	ENSP00000309142:F538L	ENSP00000309142:F538L	F	+	3	2	PDE12	57520555	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.645000	0.37238	0.357000	0.24183	0.563000	0.77884	TTC		0.398	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351440.2	NM_177966		41	70	1	0	6.61955e-31	1	7.67027e-31	41	70				
CD63	967	broad.mit.edu	37	12	56121076	56121076	+	Silent	SNP	G	G	A			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr12:56121076G>A	ENST00000549117.1	-	3	550	c.114C>T	c.(112-114)gtC>gtT	p.V38V	CD63_ENST00000548160.1_5'Flank|CD63_ENST00000257857.4_Silent_p.V38V|CD63_ENST00000550776.1_5'UTR|CD63_ENST00000548898.1_5'Flank|CD63_ENST00000552067.1_5'Flank|CD63_ENST00000420846.3_Silent_p.V38V|CD63_ENST00000552754.1_Intron|CD63_ENST00000552692.1_Silent_p.V38V|RP11-644F5.11_ENST00000552576.1_RNA|CD63_ENST00000546939.1_5'UTR	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	38					blood coagulation (GO:0007596)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular protein localization (GO:0034613)|endosome to melanosome transport (GO:0035646)|pigment granule maturation (GO:0048757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of receptor internalization (GO:0002092)|protein transport (GO:0015031)|regulation of rubidium ion transport (GO:2000680)|regulation of vascular endothelial growth factor signaling pathway (GO:1900746)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|multivesicular body, internal vesicle (GO:0097487)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						TCTGACTCAGGACAAGCTGTG	0.567																																					Pancreas(123;1459 1747 6717 18841 37380)	ENST00000549117.1																			0				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						c.(112-114)gtC>gtT		CD63 molecule							103.0	96.0	98.0					12																	56121076		2203	4300	6503	SO:0001819	synonymous_variant	0				platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane		g.chr12:56121076G>A	M58485	CCDS8890.1, CCDS58242.1, CCDS58243.1	12q12-q13	2013-02-14	2006-03-28					"""CD molecules"", ""Tetraspanins"""	1692	protein-coding gene	gene with protein product		155740	"""CD63 antigen (melanoma 1 antigen)"""	MLA1			Standard	NM_001780		Approved	ME491, TSPAN30	uc031qhv.1	P08962		ENST00000549117.1:c.114C>T	12.37:g.56121076G>A						CD63_ENST00000546939.1_5'UTR|CD63_ENST00000550776.1_5'UTR|CD63_ENST00000552692.1_Silent_p.V38V|CD63_ENST00000257857.4_Silent_p.V38V|CD63_ENST00000552754.1_Intron|CD63_ENST00000420846.3_Silent_p.V38V	p.V38V	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN			3	550	-			38					F8VZE2|Q5TZP3|Q8N6Z9|Q9UCG6	Silent	SNP	ENST00000549117.1	37	c.114C>T	CCDS8890.1																																																																																				0.567	CD63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409234.1			10	57	0	0	0	1	0	10	57				
INO80	54617	broad.mit.edu	37	15	41313214	41313214	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr15:41313214C>A	ENST00000361937.3	-	26	3582	c.3158G>T	c.(3157-3159)gGg>gTg	p.G1053V	INO80_ENST00000401393.3_Missense_Mutation_p.G1053V|RP11-540O11.4_ENST00000558967.1_RNA			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1053	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTCAGGGGCCCCATTCAACAA	0.522																																						ENST00000361937.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(3157-3159)gGg>gTg		INO80 complex subunit							83.0	76.0	79.0					15																	41313214		2203	4300	6503	SO:0001583	missense	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41313214C>A	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.3158G>T	15.37:g.41313214C>A	ENSP00000355205:p.Gly1053Val					INO80_ENST00000401393.3_Missense_Mutation_p.G1053V|RP11-540O11.4_ENST00000558967.1_RNA	p.G1053V			Q9ULG1	INO80_HUMAN			26	3582	-			1053			Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.		A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	c.3158G>T	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.905915	0.92107	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.91945	-2.94;-2.94	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.91479	0.7310	N	0.11131	0.1	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90208	0.4262	10	0.23891	T	0.37	.	19.0427	0.93008	0.0:1.0:0.0:0.0	.	1053	Q9ULG1	INO80_HUMAN	V	1053	ENSP00000355205:G1053V;ENSP00000384686:G1053V	ENSP00000355205:G1053V	G	-	2	0	INO80	39100506	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.856000	0.75450	2.722000	0.93159	0.655000	0.94253	GGG		0.522	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		3	46	1	0	0.115264	1	0.115264	3	46				
IRF4	3662	broad.mit.edu	37	6	397234	397234	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr6:397234G>A	ENST00000380956.4	+	5	745	c.619G>A	c.(619-621)Ggc>Agc	p.G207S	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	207					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CCACTGGCAAGGCCCAGCTTG	0.572			T	IGH@	MM																																	ENST00000380956.4				Dom	yes		6	6p25-p23	3662	T	interferon regulatory factor 4			L	IGH@		MM		0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(619-621)Ggc>Agc		interferon regulatory factor 4							81.0	84.0	83.0					6																	397234		2203	4300	6503	SO:0001583	missense	3662				interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:397234G>A	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.619G>A	6.37:g.397234G>A	ENSP00000370343:p.Gly207Ser					IRF4_ENST00000495137.1_3'UTR	p.G207S	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)	5	745	+		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	207					Q5VUI7|Q99660	Missense_Mutation	SNP	ENST00000380956.4	37	c.619G>A	CCDS4469.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.668867	0.47677	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.97041	-4.22	5.52	4.64	0.57946	.	0.562914	0.20490	N	0.091302	D	0.87767	0.6260	L	0.39898	1.24	0.36517	D	0.869937	B;B;B;B	0.13145	0.001;0.007;0.001;0.004	B;B;B;B	0.08055	0.001;0.003;0.002;0.003	T	0.79011	-0.1977	10	0.02654	T	1	-27.4506	10.8577	0.46808	0.1454:0.0:0.8546:0.0	.	207;237;206;207	F2Z3D5;Q99419;Q15306-2;Q15306	.;.;.;IRF4_HUMAN	S	207;236	ENSP00000370343:G207S	ENSP00000370343:G207S	G	+	1	0	IRF4	342234	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.288000	0.43514	1.312000	0.45043	0.555000	0.69702	GGC		0.572	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			10	56	0	0	0	1	0	10	56				
BTN2A3P	54718	broad.mit.edu	37	6	26423271	26423271	+	RNA	SNP	C	C	T	rs538897008		TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr6:26423271C>T	ENST00000466808.2	+	0	190							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											CATGGAGGTGCGGTGGTTCCA	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		20185	0.0		0.0	False		,,,				2504	0.001					ENST00000466808.2																			0																				214.0	171.0	186.0					6																	26423271		2203	4300	6503			0							g.chr6:26423271C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26423271C>T														0	190	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.547	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		9	58	0	0	0	1	0	9	58				
FAM208B	54906	broad.mit.edu	37	10	5803309	5803309	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr10:5803309A>G	ENST00000328090.5	+	19	7674	c.7049A>G	c.(7048-7050)aAt>aGt	p.N2350S		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	2350																	CAGAGTGCAAATATCATTGAA	0.318																																						ENST00000328090.5																			0											c.(7048-7050)aAt>aGt		family with sequence similarity 208, member B							119.0	112.0	114.0					10																	5803309		1881	4112	5993	SO:0001583	missense	54906							g.chr10:5803309A>G	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.7049A>G	10.37:g.5803309A>G	ENSP00000328426:p.Asn2350Ser						p.N2350S	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			19	7674	+			2350					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.7049A>G	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	A	12.72	2.023516	0.35701	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.41400	1.0	6.06	3.72	0.42706	.	0.248296	0.35262	N	0.003331	T	0.39759	0.1090	M	0.70595	2.14	0.28687	N	0.904807	P	0.44429	0.835	B	0.37422	0.249	T	0.41963	-0.9479	10	0.62326	D	0.03	.	10.3128	0.43718	0.8657:0.0:0.1343:0.0	.	2350	Q5VWN6	F208B_HUMAN	S	2350;1545	ENSP00000328426:N2350S	ENSP00000328426:N2350S	N	+	2	0	C10orf18	5843315	0.070000	0.21116	0.470000	0.27216	0.271000	0.26615	2.681000	0.46926	0.526000	0.28541	0.528000	0.53228	AAT		0.318	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		11	53	0	0	0	1	0	11	53				
PARD3	56288	broad.mit.edu	37	10	34739266	34739266	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr10:34739266C>A	ENST00000374789.3	-	5	1018	c.693G>T	c.(691-693)aaG>aaT	p.K231N	PARD3_ENST00000545693.1_Missense_Mutation_p.K231N|PARD3_ENST00000374794.3_Intron|PARD3_ENST00000374790.3_Intron|PARD3_ENST00000350537.4_Missense_Mutation_p.K231N|PARD3_ENST00000374788.3_Missense_Mutation_p.K231N|PARD3_ENST00000346874.4_Missense_Mutation_p.K231N|PARD3_ENST00000374773.1_Missense_Mutation_p.K231N|PARD3_ENST00000374776.1_Missense_Mutation_p.K231N|PARD3_ENST00000545260.1_Intron|PARD3_ENST00000340077.5_Missense_Mutation_p.K231N	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	231					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TCTCCAGCCACTTGCCCACCA	0.478																																						ENST00000374789.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63						c.(691-693)aaG>aaT		par-3 family cell polarity regulator							123.0	113.0	116.0					10																	34739266		2203	4300	6503	SO:0001583	missense	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34739266C>A	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.693G>T	10.37:g.34739266C>A	ENSP00000363921:p.Lys231Asn					PARD3_ENST00000374794.3_Intron|PARD3_ENST00000374776.1_Missense_Mutation_p.K231N|PARD3_ENST00000374788.3_Missense_Mutation_p.K231N|PARD3_ENST00000545260.1_Intron|PARD3_ENST00000374790.3_Intron|PARD3_ENST00000350537.4_Missense_Mutation_p.K231N|PARD3_ENST00000346874.4_Missense_Mutation_p.K231N|PARD3_ENST00000545693.1_Missense_Mutation_p.K231N|PARD3_ENST00000340077.5_Missense_Mutation_p.K231N|PARD3_ENST00000374773.1_Missense_Mutation_p.K231N	p.K231N	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN			5	1018	-		Breast(68;0.0707)	231					F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.693G>T	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	C	8.650	0.897966	0.17686	.	.	ENSG00000148498	ENST00000545693;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000350537;ENST00000374776;ENST00000340077;ENST00000374773	T;T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.91	3.1	0.35709	.	0.379933	0.29307	N	0.012534	T	0.23727	0.0574	N	0.14661	0.345	0.80722	D	1	B;B;B;B;B;B;B;B;B	0.31383	0.321;0.034;0.21;0.034;0.034;0.061;0.043;0.077;0.077	B;B;B;B;B;B;B;B;B	0.29862	0.108;0.062;0.108;0.062;0.062;0.028;0.062;0.062;0.062	T	0.03957	-1.0989	10	0.28530	T	0.3	.	9.907	0.41381	0.0:0.7249:0.0:0.2751	.	231;231;231;231;231;231;231;231;231	Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10	.;.;.;.;.;PARD3_HUMAN;.;.;.	N	231	ENSP00000443147:K231N;ENSP00000363921:K231N;ENSP00000363920:K231N;ENSP00000340591:K231N;ENSP00000311986:K231N;ENSP00000363908:K231N;ENSP00000341844:K231N;ENSP00000363905:K231N	ENSP00000341844:K231N	K	-	3	2	PARD3	34779272	0.998000	0.40836	0.998000	0.56505	0.024000	0.10985	0.494000	0.22467	0.415000	0.25817	-0.145000	0.13849	AAG		0.478	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		11	77	1	0	3.86212e-05	1	4.08601e-05	11	77				
TPO	7173	broad.mit.edu	37	2	1457542	1457542	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr2:1457542C>A	ENST00000345913.4	+	6	650	c.559C>A	c.(559-561)Cag>Aag	p.Q187K	TPO_ENST00000346956.3_Missense_Mutation_p.Q187K|TPO_ENST00000337415.3_Missense_Mutation_p.Q187K|TPO_ENST00000329066.4_Missense_Mutation_p.Q187K|TPO_ENST00000382201.3_Missense_Mutation_p.Q187K|TPO_ENST00000382198.1_Missense_Mutation_p.Q187K|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.Q187K	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	187					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGGCTTCAGTCAGCCCCGAGG	0.602																																						ENST00000345913.4																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(559-561)Cag>Aag		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						53.0	59.0	57.0					2																	1457542		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1457542C>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.559C>A	2.37:g.1457542C>A	ENSP00000318820:p.Gln187Lys					TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.Q187K|TPO_ENST00000382201.3_Missense_Mutation_p.Q187K|TPO_ENST00000349624.3_Missense_Mutation_p.Q187K|TPO_ENST00000346956.3_Missense_Mutation_p.Q187K|TPO_ENST00000337415.3_Missense_Mutation_p.Q187K|TPO_ENST00000329066.4_Missense_Mutation_p.Q187K	p.Q187K	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	6	650	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	187					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.559C>A	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	C	9.231	1.035902	0.19590	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464	T;T;T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27	5.27	4.39	0.52855	.	0.168812	0.52532	D	0.000066	T	0.48732	0.1516	L	0.33668	1.02	0.80722	D	1	B;B;B;B	0.33171	0.317;0.4;0.317;0.367	B;B;B;B	0.37550	0.228;0.121;0.164;0.253	T	0.39078	-0.9631	10	0.25106	T	0.35	-22.0183	13.9026	0.63815	0.0:0.6379:0.3621:0.0	.	187;187;187;187	P07202-4;P07202-5;P07202-2;P07202	.;.;.;PERT_HUMAN	K	187;187;187;187;187;187;187;116	ENSP00000337263:Q187K;ENSP00000318820:Q187K;ENSP00000263886:Q187K;ENSP00000332044:Q187K;ENSP00000329869:Q187K;ENSP00000371636:Q187K;ENSP00000371633:Q187K;ENSP00000405788:Q116K	ENSP00000329869:Q187K	Q	+	1	0	TPO	1436549	0.051000	0.20477	0.903000	0.35520	0.649000	0.38597	0.710000	0.25748	1.194000	0.43101	0.557000	0.71058	CAG		0.602	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		11	41	1	0	4.68919e-08	1	5.10912e-08	11	41				
BMP6	654	broad.mit.edu	37	6	7727541	7727541	+	Missense_Mutation	SNP	A	A	T			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr6:7727541A>T	ENST00000283147.6	+	1	512	c.353A>T	c.(352-354)cAg>cTg	p.Q118L		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	118					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)	p.Q118L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					cagcagcagcagcTGCCTCGC	0.731																																						ENST00000283147.6																			1	Substitution - Missense(1)	p.Q118L(1)	lung(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23						c.(352-354)cAg>cTg		bone morphogenetic protein 6																																				SO:0001583	missense	654				BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	g.chr6:7727541A>T	AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1073	protein-coding gene	gene with protein product		112266	"""vegetal related growth factor (TGFB-related)"""	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.353A>T	6.37:g.7727541A>T	ENSP00000283147:p.Gln118Leu						p.Q118L	NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN			1	512	+	Ovarian(93;0.0721)		118					Q5TCP3	Missense_Mutation	SNP	ENST00000283147.6	37	c.353A>T	CCDS4503.1	.	.	.	.	.	.	.	.	.	.	A	5.648	0.304211	0.10678	.	.	ENSG00000153162	ENST00000537240;ENST00000283147;ENST00000540959	T	0.72725	-0.68	3.64	-7.28	0.01456	Transforming growth factor-beta, N-terminal (1);	0.609742	0.13235	N	0.403351	T	0.27134	0.0665	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10382	-1.0632	10	0.41790	T	0.15	.	2.9855	0.05966	0.1788:0.4954:0.0931:0.2327	.	118	P22004	BMP6_HUMAN	L	40;118;81	ENSP00000283147:Q118L	ENSP00000283147:Q118L	Q	+	2	0	BMP6	7672540	0.177000	0.23109	0.002000	0.10522	0.071000	0.16799	-0.158000	0.10070	-1.400000	0.02061	-1.802000	0.00618	CAG		0.731	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1	NM_001718		3	13	0	0	0	1	0	3	13				
MPZL2	10205	broad.mit.edu	37	11	118133772	118133772	+	Silent	SNP	C	C	A			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr11:118133772C>A	ENST00000278937.2	-	2	227	c.99G>T	c.(97-99)cgG>cgT	p.R33R	MPZL2_ENST00000438295.2_Silent_p.R33R|MPZL2_ENST00000525647.1_5'UTR	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	33	Ig-like V-type.				anatomical structure morphogenesis (GO:0009653)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)|T cell differentiation in thymus (GO:0033077)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		CCTCCAGCACCCGGGAGGTAT	0.458																																						ENST00000278937.2																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11						c.(97-99)cgG>cgT		myelin protein zero-like 2							145.0	153.0	150.0					11																	118133772		2200	4296	6496	SO:0001819	synonymous_variant	10205				anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane		g.chr11:118133772C>A	AF275945	CCDS8393.1	11q24	2013-01-11	2007-08-01	2007-08-01		ENSG00000149573		"""Immunoglobulin superfamily / V-set domain containing"""	3496	protein-coding gene	gene with protein product		604873	"""epithelial V-like antigen 1"""	EVA1		9585423	Standard	NM_005797		Approved	EVA	uc001psn.3	O60487		ENST00000278937.2:c.99G>T	11.37:g.118133772C>A						MPZL2_ENST00000525647.1_5'UTR|MPZL2_ENST00000438295.2_Silent_p.R33R	p.R33R	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	2	227	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	33			Ig-like V-type.		A8K2R1	Silent	SNP	ENST00000278937.2	37	c.99G>T	CCDS8393.1																																																																																				0.458	MPZL2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392113.1	NM_005797		10	157	1	0	2.80697e-09	1	3.10468e-09	10	157				
ZNF878	729747	broad.mit.edu	37	19	12155835	12155835	+	Silent	SNP	G	G	A			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr19:12155835G>A	ENST00000547628.1	-	4	518	c.381C>T	c.(379-381)tcC>tcT	p.S127S	CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|ZNF878_ENST00000602107.1_Silent_p.S174S	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	127					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						CAAGGCTACTGGAATAACTAA	0.433																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(520-522)tcC>tcT		zinc finger protein 878							83.0	87.0	86.0					19																	12155835		2136	4270	6406	SO:0001819	synonymous_variant	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155835G>A		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.381C>T	19.37:g.12155835G>A						CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000547628.1_Silent_p.S127S|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA	p.S174S			C9JN71	ZN878_HUMAN			5	521	-			127						Silent	SNP	ENST00000547628.1	37	c.522C>T	CCDS45984.2																																																																																				0.433	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		7	51	0	0	0	1	0	7	51				
OR5L2	26338	broad.mit.edu	37	11	55594849	55594849	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr11:55594849G>A	ENST00000378397.1	+	1	155	c.155G>A	c.(154-156)aGc>aAc	p.S52N		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				ATTCAGGTCAGCTCTCGGCTC	0.483										HNSCC(27;0.073)																												ENST00000378397.1																			0				breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(154-156)aGc>aAc		olfactory receptor, family 5, subfamily L, member 2							297.0	264.0	275.0					11																	55594849		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55594849G>A	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.155G>A	11.37:g.55594849G>A	ENSP00000367650:p.Ser52Asn	HNSCC(27;0.073)					p.S52N	NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN			1	155	+		all_epithelial(135;0.208)	52					Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.155G>A	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	2.063	-0.414845	0.04766	.	.	ENSG00000205030	ENST00000378397	T	0.01068	5.38	5.31	2.36	0.29203	GPCR, rhodopsin-like superfamily (1);	0.102357	0.43919	D	0.000508	T	0.00637	0.0021	N	0.02708	-0.52	0.09310	N	1	B	0.14012	0.009	B	0.18871	0.023	T	0.48864	-0.8997	10	0.45353	T	0.12	-29.1845	6.0329	0.19690	0.2192:0.1495:0.6313:0.0	.	52	Q8NGL0	OR5L2_HUMAN	N	52	ENSP00000367650:S52N	ENSP00000367650:S52N	S	+	2	0	OR5L2	55351425	0.000000	0.05858	0.554000	0.28268	0.006000	0.05464	0.572000	0.23684	0.748000	0.32831	0.626000	0.83405	AGC		0.483	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		7	185	0	0	0	1	0	7	185				
BACH2	60468	broad.mit.edu	37	6	90718518	90718518	+	Missense_Mutation	SNP	A	A	T			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr6:90718518A>T	ENST00000257749.4	-	6	753	c.46T>A	c.(46-48)Tcc>Acc	p.S16T	BACH2_ENST00000537989.1_Missense_Mutation_p.S16T|BACH2_ENST00000343122.3_Missense_Mutation_p.S16T	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	16						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TGGACTGTGGACTCATACACA	0.483																																						ENST00000257749.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45						c.(46-48)Tcc>Acc		BTB and CNC homology 1, basic leucine zipper transcription factor 2							158.0	148.0	152.0					6																	90718518		2203	4300	6503	SO:0001583	missense	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90718518A>T	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.46T>A	6.37:g.90718518A>T	ENSP00000257749:p.Ser16Thr					BACH2_ENST00000537989.1_Missense_Mutation_p.S16T|BACH2_ENST00000343122.3_Missense_Mutation_p.S16T	p.S16T	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	6	753	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	16					E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	ENST00000257749.4	37	c.46T>A	CCDS5026.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.132992	0.77662	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122;ENST00000406998;ENST00000453877	T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97	5.03	5.03	0.67393	BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.39784	0.1091	M	0.80746	2.51	0.49299	D	0.999775	D	0.67145	0.996	D	0.70935	0.971	T	0.45220	-0.9276	10	0.87932	D	0	-0.3486	15.0569	0.71921	1.0:0.0:0.0:0.0	.	16	Q9BYV9	BACH2_HUMAN	T	16	ENSP00000257749:S16T;ENSP00000437473:S16T;ENSP00000345642:S16T;ENSP00000384145:S16T;ENSP00000397668:S16T	ENSP00000257749:S16T	S	-	1	0	BACH2	90775239	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.821000	0.92009	2.029000	0.59856	0.482000	0.46254	TCC		0.483	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		8	49	0	0	0	1	0	8	49				
DIAPH1	1729	broad.mit.edu	37	5	140954691	140954691	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr5:140954691C>T	ENST00000398557.4	-	15	1624	c.1484G>A	c.(1483-1485)cGa>cAa	p.R495Q	DIAPH1_ENST00000389054.3_Missense_Mutation_p.R495Q|DIAPH1_ENST00000389057.5_Missense_Mutation_p.R486Q|DIAPH1_ENST00000520569.1_Missense_Mutation_p.R441Q|DIAPH1_ENST00000398562.2_Missense_Mutation_p.R486Q|DIAPH1_ENST00000518047.1_Missense_Mutation_p.R486Q|DIAPH1_ENST00000253811.6_Missense_Mutation_p.R495Q|DIAPH1_ENST00000398566.3_Missense_Mutation_p.R486Q	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	495					actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGCTCATGTCGGGCTGTTAA	0.423																																						ENST00000253811.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23						c.(1483-1485)cGa>cAa		diaphanous-related formin 1							125.0	112.0	116.0					5																	140954691		1887	4115	6002	SO:0001583	missense	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140954691C>T	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.1484G>A	5.37:g.140954691C>T	ENSP00000381565:p.Arg495Gln					DIAPH1_ENST00000520569.1_Missense_Mutation_p.R441Q|DIAPH1_ENST00000398557.4_Missense_Mutation_p.R495Q|DIAPH1_ENST00000398562.2_Missense_Mutation_p.R486Q|DIAPH1_ENST00000398566.3_Missense_Mutation_p.R486Q|DIAPH1_ENST00000389054.3_Missense_Mutation_p.R495Q|DIAPH1_ENST00000518047.1_Missense_Mutation_p.R486Q|DIAPH1_ENST00000389057.5_Missense_Mutation_p.R486Q	p.R495Q			O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		15	1624	-			495					A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	37	c.1484G>A	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	C	33	5.258556	0.95368	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047	T;T;T;T;T;T;T;T	0.21543	2.02;2.02;2.0;2.02;2.02;2.02;2.02;2.02	6.07	5.21	0.72293	.	0.000000	0.64402	D	0.000005	T	0.49440	0.1557	M	0.82716	2.605	0.50632	D	0.99988	D;D	0.76494	0.999;0.999	D;D	0.72625	0.978;0.978	T	0.56208	-0.8017	10	0.66056	D	0.02	.	14.4009	0.67044	0.0:0.9285:0.0:0.0715	.	486;495	E9PEZ2;O60610	.;DIAP1_HUMAN	Q	495;441;486;486;486;495;495;486	ENSP00000373706:R495Q;ENSP00000429282:R441Q;ENSP00000381570:R486Q;ENSP00000373709:R486Q;ENSP00000381572:R486Q;ENSP00000381565:R495Q;ENSP00000253811:R495Q;ENSP00000428268:R486Q	ENSP00000253811:R495Q	R	-	2	0	DIAPH1	140934875	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.391000	0.73208	1.587000	0.49959	0.655000	0.94253	CGA		0.423	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		4	43	0	0	0	1	0	4	43				
FLRT2	23768	broad.mit.edu	37	14	86088705	86088705	+	Missense_Mutation	SNP	A	A	T			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr14:86088705A>T	ENST00000330753.4	+	2	1614	c.847A>T	c.(847-849)Ata>Tta	p.I283L	FLRT2_ENST00000554746.1_Missense_Mutation_p.I283L	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	283					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		ACGGCTGGATATATCCAACAA	0.478																																						ENST00000330753.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(847-849)Ata>Tta		fibronectin leucine rich transmembrane protein 2							163.0	167.0	166.0					14																	86088705		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86088705A>T	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.847A>T	14.37:g.86088705A>T	ENSP00000332879:p.Ile283Leu					FLRT2_ENST00000554746.1_Missense_Mutation_p.I283L	p.I283L	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	1614	+			283					A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.847A>T	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	A	2.282	-0.364544	0.05103	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	T;T	0.27402	1.67;1.67	5.97	5.97	0.96955	.	0.102856	0.64402	D	0.000003	T	0.07728	0.0194	N	0.00155	-1.965	0.54753	D	0.999982	B	0.18013	0.025	B	0.20577	0.03	T	0.41484	-0.9506	10	0.02654	T	1	-14.7206	16.4473	0.83942	1.0:0.0:0.0:0.0	.	283	O43155	FLRT2_HUMAN	L	283	ENSP00000332879:I283L;ENSP00000451050:I283L	ENSP00000332879:I283L	I	+	1	0	FLRT2	85158458	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	4.158000	0.58150	2.281000	0.76405	0.533000	0.62120	ATA		0.478	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			4	202	0	0	0	1	0	4	202				
SPATA31D1	389763	broad.mit.edu	37	9	84608365	84608365	+	Missense_Mutation	SNP	G	G	A	rs370117363		TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr9:84608365G>A	ENST00000344803.2	+	4	3027	c.2980G>A	c.(2980-2982)Gtc>Atc	p.V994I		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	994					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTCACCTGTCGTCCAAGAAGG	0.502																																						ENST00000344803.2																			0											c.(2980-2982)Gtc>Atc		SPATA31 subfamily D, member 1		G	ILE/VAL	0,3878		0,0,1939	144.0	146.0	146.0		2980	-1.3	0.0	9		146	1,8279		0,1,4139	no	missense	FAM75D1	NM_001001670.2	29	0,1,6078	AA,AG,GG		0.0121,0.0,0.0082	benign	994/1577	84608365	1,12157	1939	4140	6079	SO:0001583	missense	389763							g.chr9:84608365G>A		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2980G>A	9.37:g.84608365G>A	ENSP00000341988:p.Val994Ile						p.V994I	NM_001001670.2	NP_001001670.1					4	3027	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.2980G>A	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	7.888	0.731644	0.15507	0.0	1.21E-4	ENSG00000214929	ENST00000344803	T	0.04917	3.53	2.45	-1.28	0.09318	.	.	.	.	.	T	0.02610	0.0079	N	0.08118	0	0.09310	N	1	B	0.30326	0.276	B	0.27500	0.08	T	0.43048	-0.9415	9	0.37606	T	0.19	.	2.3029	0.04167	0.3792:0.0:0.3883:0.2325	.	994	Q6ZQQ2	F75D1_HUMAN	I	994	ENSP00000341988:V994I	ENSP00000341988:V994I	V	+	1	0	FAM75D1	83798185	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.401000	0.07232	-0.276000	0.09206	-0.233000	0.12211	GTC		0.502	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		14	119	0	0	0	1	0	14	119				
HOXA3	3200	broad.mit.edu	37	7	27148061	27148061	+	Missense_Mutation	SNP	C	C	T	rs201998676		TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr7:27148061C>T	ENST00000396352.4	-	3	1004	c.805G>A	c.(805-807)Gtg>Atg	p.V269M	HOXA3_ENST00000521401.1_5'Flank|HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Missense_Mutation_p.V269M	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	269					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CCGGGGGGCACGGGGCTGCGA	0.612																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)	ENST00000396352.4																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						c.(805-807)Gtg>Atg		homeobox A3							100.0	100.0	100.0					7																	27148061		2203	4300	6503	SO:0001583	missense	3200				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27148061C>T		CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"""Homeoboxes / ANTP class : HOXL subclass"""	5104	protein-coding gene	gene with protein product		142954	"""homeo box A3"""	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.805G>A	7.37:g.27148061C>T	ENSP00000379640:p.Val269Met					HOXA3_ENST00000317201.2_Missense_Mutation_p.V269M|HOXA-AS2_ENST00000518088.1_RNA	p.V269M	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN			3	1004	-			269					A4D181	Missense_Mutation	SNP	ENST00000396352.4	37	c.805G>A	CCDS5404.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.080458	0.55753	.	.	ENSG00000105997	ENST00000396352;ENST00000317201;ENST00000396350	D;D	0.86497	-2.13;-2.13	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.92038	0.7477	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.92360	0.5896	10	0.72032	D	0.01	.	19.5376	0.95260	0.0:1.0:0.0:0.0	.	269	O43365	HXA3_HUMAN	M	269;269;111	ENSP00000379640:V269M;ENSP00000324884:V269M	ENSP00000324884:V269M	V	-	1	0	HOXA3	27114586	1.000000	0.71417	0.978000	0.43139	0.861000	0.49209	4.958000	0.63660	2.620000	0.88729	0.655000	0.94253	GTG		0.612	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2			10	90	0	0	0	1	0	10	90				
KRT25	147183	broad.mit.edu	37	17	38911108	38911108	+	Missense_Mutation	SNP	T	T	C	rs572266841	byFrequency	TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr17:38911108T>C	ENST00000312150.4	-	1	476	c.416A>G	c.(415-417)gAc>gGc	p.D139G		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				ATTTTTAAGGTCATCAATTAT	0.343																																						ENST00000312150.4																			0				endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16						c.(415-417)gAc>gGc		keratin 25							75.0	75.0	75.0					17																	38911108		2203	4300	6503	SO:0001583	missense	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38911108T>C	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30839	protein-coding gene	gene with protein product			"""keratin 25A"""	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.416A>G	17.37:g.38911108T>C	ENSP00000310573:p.Asp139Gly						p.D139G	NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN			1	476	-		Breast(137;0.00526)	139			Coil 1B.|Rod.			Missense_Mutation	SNP	ENST00000312150.4	37	c.416A>G	CCDS11373.1	.	.	.	.	.	.	.	.	.	.	T	14.21	2.467326	0.43839	.	.	ENSG00000204897	ENST00000394042;ENST00000312150	D	0.89810	-2.57	5.91	5.91	0.95273	Filament (1);	0.000000	0.64402	D	0.000002	D	0.92341	0.7570	M	0.83384	2.64	0.47441	D	0.999422	B	0.29590	0.25	B	0.41202	0.35	D	0.91893	0.5525	10	0.87932	D	0	.	16.3421	0.83085	0.0:0.0:0.0:1.0	.	139	Q7Z3Z0	K1C25_HUMAN	G	139	ENSP00000310573:D139G	ENSP00000310573:D139G	D	-	2	0	KRT25	36164634	0.998000	0.40836	0.977000	0.42913	0.417000	0.31264	4.587000	0.60991	2.261000	0.74972	0.533000	0.62120	GAC		0.343	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		12	45	0	0	0	1	0	12	45				
MRGPRX1	259249	broad.mit.edu	37	11	18955602	18955602	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr11:18955602C>T	ENST00000302797.3	-	1	954	c.730G>A	c.(730-732)Gtg>Atg	p.V244M	RP11-583F24.8_ENST00000528646.1_RNA|MRGPRX1_ENST00000526914.1_5'Flank	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	244					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCCCTGTCCACGTGGATCCAT	0.478																																						ENST00000302797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(730-732)Gtg>Atg		MAS-related GPR, member X1							75.0	68.0	71.0					11																	18955602		2194	4287	6481	SO:0001583	missense	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18955602C>T		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.730G>A	11.37:g.18955602C>T	ENSP00000305766:p.Val244Met						p.V244M	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN			1	954	-			244					Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	ENST00000302797.3	37	c.730G>A	CCDS7846.1	.	.	.	.	.	.	.	.	.	.	.	2.926	-0.222167	0.06061	.	.	ENSG00000170255	ENST00000302797	T	0.71817	-0.6	1.85	-3.7	0.04437	GPCR, rhodopsin-like superfamily (1);	10.162800	0.00166	N	0.000000	T	0.48447	0.1500	N	0.08118	0	0.09310	N	1	B	0.24618	0.107	B	0.26969	0.075	T	0.33214	-0.9877	10	0.44086	T	0.13	.	3.831	0.08874	0.2022:0.4826:0.0:0.3152	.	244	Q96LB2	MRGX1_HUMAN	M	244	ENSP00000305766:V244M	ENSP00000305766:V244M	V	-	1	0	MRGPRX1	18912178	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-8.927000	0.00015	-1.362000	0.02166	-1.161000	0.01788	GTG		0.478	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		11	41	0	0	0	1	0	11	41				
NYAP2	57624	broad.mit.edu	37	2	226446863	226446863	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr2:226446863G>A	ENST00000272907.6	+	4	1143	c.730G>A	c.(730-732)Gtg>Atg	p.V244M	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	244					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												AGAGGAGCCCGTGTACATCGA	0.592																																						ENST00000272907.6																			0											c.(730-732)Gtg>Atg		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2							111.0	118.0	116.0					2																	226446863		1946	4128	6074	SO:0001583	missense	57624							g.chr2:226446863G>A	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.730G>A	2.37:g.226446863G>A	ENSP00000272907:p.Val244Met					NYAP2_ENST00000409269.2_Intron	p.V244M	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN			4	1143	+			244					A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	c.730G>A	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	G	32	5.121280	0.94385	.	.	ENSG00000144460	ENST00000272907	T	0.63580	-0.05	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.82291	0.5005	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.83324	-0.0016	10	0.72032	D	0.01	-34.3849	20.3541	0.98825	0.0:0.0:1.0:0.0	.	244	Q9P242	K1486_HUMAN	M	244	ENSP00000272907:V244M	ENSP00000272907:V244M	V	+	1	0	KIAA1486	226155107	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	9.472000	0.97709	2.816000	0.96949	0.644000	0.83932	GTG		0.592	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		18	88	0	0	0	1	0	18	88				
DSCAM	1826	broad.mit.edu	37	21	41385014	41385014	+	Silent	SNP	G	G	T	rs200198659		TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr21:41385014G>T	ENST00000400454.1	-	33	6463	c.5986C>A	c.(5986-5988)Cgg>Agg	p.R1996R		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1996				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). {ECO:0000305}.	cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AAATGGCCCCGGGAGTCGAGC	0.522																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(5986-5988)Cgg>Agg		Down syndrome cell adhesion molecule							60.0	59.0	59.0					21																	41385014		1903	4123	6026	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41385014G>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5986C>A	21.37:g.41385014G>T							p.R1996R	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			33	6463	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1996	HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).				O60468	Silent	SNP	ENST00000400454.1	37	c.5986C>A	CCDS42929.1																																																																																				0.522	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		3	58	1	0	6.4e-05	1	6.67429e-05	3	58				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	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		4	44	0	0	0	1	0	4	44				
LILRA2	11027	broad.mit.edu	37	19	55086932	55086932	+	Missense_Mutation	SNP	C	C	T	rs532565720	byFrequency	TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr19:55086932C>T	ENST00000251377.3	+	6	998	c.865C>T	c.(865-867)Cac>Tac	p.H289Y	LILRA2_ENST00000251376.3_Missense_Mutation_p.H289Y|LILRA2_ENST00000391737.1_Missense_Mutation_p.H277Y|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.H289Y|LILRB1_ENST00000418536.2_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	289	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.H289Y(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GAGCCCCTCCCACGGGGGCCA	0.647													c|||	6	0.00119808	0.0	0.0014	5008	,	,		16291	0.0		0.0	False		,,,				2504	0.0051					ENST00000251377.3																			1	Substitution - Missense(1)	p.H289Y(1)	kidney(1)	breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(865-867)Cac>Tac		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							49.0	51.0	50.0					19																	55086932		2203	4299	6502	SO:0001583	missense	0							g.chr19:55086932C>T	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.865C>T	19.37:g.55086932C>T	ENSP00000251377:p.His289Tyr					LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.H289Y|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.H277Y|LILRA2_ENST00000251376.3_Missense_Mutation_p.H289Y|LILRB1_ENST00000418536.2_Intron	p.H289Y						GBM - Glioblastoma multiforme(193;0.0963)	6	998	+								O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.865C>T	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	C	8.190	0.795735	0.16327	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.00824	5.65;5.65;5.65;5.65;5.65	2.8	2.8	0.32819	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.843870	0.10052	N	0.722156	T	0.02767	0.0083	M	0.81179	2.53	0.25235	N	0.989797	B;B;B;B	0.17038	0.018;0.02;0.009;0.001	B;B;B;B	0.38458	0.274;0.077;0.077;0.015	T	0.36648	-0.9739	10	0.28530	T	0.3	.	9.2391	0.37484	0.0:1.0:0.0:0.0	.	289;277;289;289	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	Y	289;289;289;289;277	ENSP00000388131:H289Y;ENSP00000251377:H289Y;ENSP00000375618:H289Y;ENSP00000251376:H289Y;ENSP00000375617:H277Y	ENSP00000251376:H289Y	H	+	1	0	LILRA2	59778744	0.000000	0.05858	0.006000	0.13384	0.119000	0.20118	0.417000	0.21214	1.570000	0.49709	0.400000	0.26472	CAC		0.647	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			4	63	0	0	0	1	0	4	63				
S100A7A	338324	broad.mit.edu	37	1	153391744	153391744	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr1:153391744C>A	ENST00000368729.4	+	3	322	c.265C>A	c.(265-267)Cag>Aag	p.Q89K	S100A7A_ENST00000329256.2_Missense_Mutation_p.Q89K|S100A7A_ENST00000368728.2_Missense_Mutation_p.Q89K	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	89						cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein self-association (GO:0043621)			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTACCACAAGCAGAGCCATGG	0.537																																						ENST00000368729.4																			0				cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12						c.(265-267)Cag>Aag		S100 calcium binding protein A7A							73.0	69.0	70.0					1																	153391744		2203	4300	6503	SO:0001583	missense	338324					cytoplasm	calcium ion binding	g.chr1:153391744C>A	AY189118	CCDS30872.1	1q22	2013-01-10	2006-09-11	2006-09-11	ENSG00000184330	ENSG00000184330		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	21657	protein-coding gene	gene with protein product			"""S100 calcium binding protein A15"", ""S100 calcium binding protein A7-like 1"""	S100A15, S100A7L1		11230159	Standard	NM_176823		Approved	S100A7f	uc001fbt.1	Q86SG5	OTTHUMG00000013122	ENST00000368729.4:c.265C>A	1.37:g.153391744C>A	ENSP00000357718:p.Gln89Lys					S100A7A_ENST00000329256.2_Missense_Mutation_p.Q89K|S100A7A_ENST00000368728.2_Missense_Mutation_p.Q89K	p.Q89K	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	322	+	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		89					D3DV38|Q5SY69	Missense_Mutation	SNP	ENST00000368729.4	37	c.265C>A	CCDS30872.1	.	.	.	.	.	.	.	.	.	.	.	3.626	-0.076563	0.07184	.	.	ENSG00000184330	ENST00000368729;ENST00000368728;ENST00000329256	T;T;T	0.05996	3.36;3.36;3.36	1.72	0.771	0.18504	EF-hand-like domain (1);	.	.	.	.	T	0.01695	0.0054	L	0.58101	1.795	0.09310	N	1	P	0.40515	0.719	B	0.33454	0.164	T	0.45396	-0.9264	9	0.27785	T	0.31	.	3.9591	0.09403	0.0:0.7684:0.0:0.2316	.	89	Q86SG5	S1A7A_HUMAN	K	89	ENSP00000357718:Q89K;ENSP00000357717:Q89K;ENSP00000329008:Q89K	ENSP00000329008:Q89K	Q	+	1	0	S100A7A	151658368	0.017000	0.18338	0.001000	0.08648	0.005000	0.04900	1.845000	0.39279	0.264000	0.21851	0.591000	0.81541	CAG		0.537	S100A7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036786.2	NM_176823		12	68	1	0	9.05144e-12	1	1.01655e-11	12	68				
ALOX15	246	broad.mit.edu	37	17	4535298	4535298	+	Silent	SNP	C	C	T	rs147458306	byFrequency	TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr17:4535298C>T	ENST00000570836.1	-	14	1791	c.1695G>A	c.(1693-1695)ccG>ccA	p.P565P	ALOX15_ENST00000574640.1_Silent_p.P526P|ALOX15_ENST00000545513.1_Silent_p.P587P|ALOX15_ENST00000293761.3_Silent_p.P565P			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	565	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		TGGTGGTTGGCGGGGGCAGCC	0.602													C|||	17	0.00339457	0.0129	0.0	5008	,	,		20423	0.0		0.0	False		,,,				2504	0.0					ENST00000570836.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20						c.(1693-1695)ccG>ccA		arachidonate 15-lipoxygenase	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	C		27,4379	34.3+/-65.2	0,27,2176	61.0	57.0	58.0		1695	-6.1	0.2	17	dbSNP_134	58	0,8600		0,0,4300	no	coding-synonymous	ALOX15	NM_001140.3		0,27,6476	TT,TC,CC		0.0,0.6128,0.2076		565/663	4535298	27,12979	2203	4300	6503	SO:0001819	synonymous_variant	246				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:4535298C>T	M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"""Arachidonate lipoxygenases"""	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.1695G>A	17.37:g.4535298C>T						ALOX15_ENST00000545513.1_Silent_p.P587P|ALOX15_ENST00000574640.1_Silent_p.P526P|ALOX15_ENST00000293761.3_Silent_p.P565P	p.P565P			P16050	LOX15_HUMAN		READ - Rectum adenocarcinoma(115;0.0327)	14	1791	-			565			Lipoxygenase.		A8K2P4|B7ZA11|Q8N6R7|Q99657	Silent	SNP	ENST00000570836.1	37	c.1695G>A	CCDS11049.1																																																																																				0.602	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207487.2			3	36	0	0	0	1	0	3	36				
PMF1	11243	broad.mit.edu	37	1	156202161	156202161	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr1:156202161C>T	ENST00000368277.3	+	2	221	c.212C>T	c.(211-213)gCg>gTg	p.A71V	PMF1_ENST00000565805.1_Missense_Mutation_p.A71V|PMF1-BGLAP_ENST00000490491.1_Missense_Mutation_p.A71V|PMF1_ENST00000567140.1_Missense_Mutation_p.A71V|PMF1_ENST00000368279.3_Missense_Mutation_p.A71V|PMF1-BGLAP_ENST00000320139.5_Missense_Mutation_p.A71V|PMF1-BGLAP_ENST00000368276.4_Missense_Mutation_p.A71V|PMF1_ENST00000368273.4_Intron	NM_007221.3	NP_009152.2			polyamine-modulated factor 1											kidney(1)|large_intestine(2)|lung(3)	6	Hepatocellular(266;0.158)					TTGCAGCCTGCGATGACACAG	0.537																																					Pancreas(32;764 914 7316 34504 37150)|Ovarian(64;846 1195 21996 34382 40415)	ENST00000368277.3																			0				kidney(1)|large_intestine(2)|lung(3)	6						c.(211-213)gCg>gTg		polyamine-modulated factor 1							201.0	199.0	199.0					1																	156202161		2203	4300	6503	SO:0001583	missense	11243							g.chr1:156202161C>T	AF141310	CCDS30886.1, CCDS55648.1, CCDS55649.1	1q22	2013-07-03			ENSG00000160783	ENSG00000160783			9112	protein-coding gene	gene with protein product		609176				10419538	Standard	NM_007221		Approved			Q6P1K2	OTTHUMG00000177123	ENST00000368277.3:c.212C>T	1.37:g.156202161C>T	ENSP00000357260:p.Ala71Val					PMF1_ENST00000466489.1_3'UTR|PMF1-BGLAP_ENST00000490491.1_Missense_Mutation_p.A71V|PMF1_ENST00000368279.3_Missense_Mutation_p.A71V|PMF1_ENST00000567140.1_Missense_Mutation_p.A71V|PMF1_ENST00000565805.1_Missense_Mutation_p.A71V|PMF1-BGLAP_ENST00000368276.4_Missense_Mutation_p.A71V|PMF1-BGLAP_ENST00000320139.5_Missense_Mutation_p.A71V|PMF1_ENST00000368273.4_Intron	p.A71V	NM_007221.3	NP_009152.2					2	221	+	Hepatocellular(266;0.158)								Missense_Mutation	SNP	ENST00000368277.3	37	c.212C>T	CCDS30886.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.290238	0.80914	.	.	ENSG00000160783	ENST00000368279;ENST00000368277;ENST00000368276;ENST00000320139	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.68	5.68	0.88126	.	0.212719	0.40728	N	0.001029	T	0.07369	0.0186	N	0.14661	0.345	0.23959	N	0.99634	B;B;B	0.18013	0.007;0.014;0.025	B;B;B	0.08055	0.001;0.003;0.001	T	0.17501	-1.0367	10	0.52906	T	0.07	-3.2266	10.0062	0.41959	0.8298:0.1702:0.0:0.0	.	71;71;71	Q6P1K2-3;Q5TCK1;Q6P1K2	.;.;PMF1_HUMAN	V	71	ENSP00000357262:A71V;ENSP00000357260:A71V;ENSP00000357259:A71V;ENSP00000324909:A71V	ENSP00000324909:A71V	A	+	2	0	PMF1	154468785	0.996000	0.38824	0.901000	0.35422	0.277000	0.26821	3.174000	0.50847	0.993000	0.38866	-0.256000	0.11100	GCG		0.537	PMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040860.1	NM_007221		4	148	0	0	0	1	0	4	148				
LILRA2	11027	broad.mit.edu	37	19	55086927	55086927	+	Missense_Mutation	SNP	C	C	G	rs560494676	byFrequency	TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr19:55086927C>G	ENST00000251377.3	+	6	993	c.860C>G	c.(859-861)cCc>cGc	p.P287R	LILRA2_ENST00000251376.3_Missense_Mutation_p.P287R|LILRA2_ENST00000391737.1_Missense_Mutation_p.P275R|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.P287R|LILRB1_ENST00000418536.2_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	287	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCTGTGAGCCCCTCCCACGGG	0.637													c|||	7	0.00139776	0.0	0.0029	5008	,	,		16176	0.0		0.0	False		,,,				2504	0.0051					ENST00000251377.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(859-861)cCc>cGc		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							51.0	53.0	52.0					19																	55086927		2203	4299	6502	SO:0001583	missense	0							g.chr19:55086927C>G	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.860C>G	19.37:g.55086927C>G	ENSP00000251377:p.Pro287Arg					LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.P287R|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.P275R|LILRA2_ENST00000251376.3_Missense_Mutation_p.P287R|LILRB1_ENST00000418536.2_Intron	p.P287R						GBM - Glioblastoma multiforme(193;0.0963)	6	993	+								O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.860C>G	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.616861	0.00118	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62	2.8	-5.59	0.02505	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	10.104300	0.00481	N	0.000131	T	0.07052	0.0179	N	0.25144	0.715	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.17098	0.017;0.002;0.002;0.001	T	0.37596	-0.9699	10	0.05959	T	0.93	.	3.4105	0.07356	0.2975:0.4556:0.1328:0.1142	.	287;275;287;287	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	R	287;287;287;287;275	ENSP00000388131:P287R;ENSP00000251377:P287R;ENSP00000375618:P287R;ENSP00000251376:P287R;ENSP00000375617:P275R	ENSP00000251376:P287R	P	+	2	0	LILRA2	59778739	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.336000	0.00507	-2.650000	0.00424	-3.580000	0.00029	CCC		0.637	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			4	68	0	0	0	1	0	4	68				
NALCN	259232	broad.mit.edu	37	13	102029174	102029174	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr13:102029174G>A	ENST00000251127.6	-	6	602	c.521C>T	c.(520-522)tCg>tTg	p.S174L	NALCN_ENST00000376200.5_Missense_Mutation_p.S174L|NALCN_ENST00000376196.3_Missense_Mutation_p.S174L|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	174					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.S174L(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTGTTCTCCCGATCGCCTAGA	0.313																																						ENST00000251127.6																			1	Substitution - Missense(1)	p.S174L(1)	large_intestine(1)	NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(520-522)tCg>tTg		sodium leak channel, non-selective							104.0	116.0	112.0					13																	102029174		2202	4300	6502	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:102029174G>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.521C>T	13.37:g.102029174G>A	ENSP00000251127:p.Ser174Leu					NALCN_ENST00000376200.5_Missense_Mutation_p.S174L|NALCN_ENST00000376196.3_Missense_Mutation_p.S174L|NALCN_ENST00000470333.1_5'UTR	p.S174L	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			6	602	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		174					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.521C>T	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400129	0.83120	.	.	ENSG00000102452	ENST00000251127;ENST00000376196;ENST00000376200;ENST00000449582	D;D;D	0.98889	-5.21;-5.21;-5.21	4.92	4.92	0.64577	Ion transport (1);	0.066807	0.64402	D	0.000006	D	0.99093	0.9688	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.975;0.991	D	0.99814	1.1043	10	0.87932	D	0	.	17.7591	0.88459	0.0:0.0:1.0:0.0	.	174;174	F2Z323;Q8IZF0	.;NALCN_HUMAN	L	174	ENSP00000251127:S174L;ENSP00000365367:S174L;ENSP00000365373:S174L	ENSP00000251127:S174L	S	-	2	0	NALCN	100827175	1.000000	0.71417	0.999000	0.59377	0.868000	0.49771	9.460000	0.97641	2.283000	0.76528	0.650000	0.86243	TCG		0.313	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		33	89	0	0	0	1	0	33	89				
OR10J1	26476	broad.mit.edu	37	1	159409753	159409753	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr1:159409753C>A	ENST00000423932.3	+	1	242	c.205C>A	c.(205-207)Ccc>Acc	p.P69T	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	69					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TCTTCACACACCCATGTACTT	0.458																																						ENST00000423932.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25						c.(205-207)Ccc>Acc		olfactory receptor, family 10, subfamily J, member 1							171.0	155.0	160.0					1																	159409753		2203	4300	6503	SO:0001583	missense	26476				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr1:159409753C>A	X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"""GPCR / Class A : Olfactory receptors"""	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.205C>A	1.37:g.159409753C>A	ENSP00000399078:p.Pro69Thr					RP11-550P17.5_ENST00000431862.1_RNA	p.P69T	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN			1	242	+	all_hematologic(112;0.0429)		69					Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	ENST00000423932.3	37	c.205C>A	CCDS1185.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.035647	0.35893	.	.	ENSG00000196184	ENST00000423932	T	0.02032	4.49	4.48	3.57	0.40892	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41097	D	0.000945	T	0.12646	0.0307	H	0.97214	3.96	0.43476	D	0.995691	D	0.89917	1.0	D	0.83275	0.996	T	0.02797	-1.1109	10	0.87932	D	0	.	10.4932	0.44762	0.0:0.9044:0.0:0.0956	.	69	P30954	O10J1_HUMAN	T	69	ENSP00000399078:P69T	ENSP00000399078:P69T	P	+	1	0	OR10J1	157676377	1.000000	0.71417	0.840000	0.33206	0.069000	0.16628	5.712000	0.68407	1.216000	0.43427	-0.136000	0.14681	CCC		0.458	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1	NM_012351		24	85	1	0	2.32416e-17	1	2.65099e-17	24	85				
RFC1	5981	broad.mit.edu	37	4	39291478	39291478	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr4:39291478G>A	ENST00000381897.1	-	24	3486	c.3353C>T	c.(3352-3354)gCc>gTc	p.A1118V	RFC1_ENST00000349703.2_Missense_Mutation_p.A1117V	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	1118					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						CTTGATCATGGCATCAGTTTC	0.408																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	ENST00000381897.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(3352-3354)gCc>gTc		replication factor C (activator 1) 1, 145kDa							182.0	181.0	181.0					4																	39291478		2203	4300	6503	SO:0001583	missense	5981				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	g.chr4:39291478G>A	L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.3353C>T	4.37:g.39291478G>A	ENSP00000371321:p.Ala1118Val					RFC1_ENST00000349703.2_Missense_Mutation_p.A1117V	p.A1118V	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN			24	3486	-			1118					A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	c.3353C>T	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905131	0.92035	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	T;T	0.13657	2.58;2.57	5.83	4.98	0.66077	.	0.057208	0.64402	D	0.000001	T	0.35740	0.0942	M	0.70275	2.135	0.80722	D	1	D;D	0.65815	0.992;0.995	P;D	0.62955	0.813;0.909	T	0.15838	-1.0423	10	0.56958	D	0.05	-7.9137	17.0448	0.86499	0.0:0.127:0.873:0.0	.	1118;1117	P35251;P35251-2	RFC1_HUMAN;.	V	1118;1117	ENSP00000371321:A1118V;ENSP00000261424:A1117V	ENSP00000261424:A1117V	A	-	2	0	RFC1	38967873	1.000000	0.71417	0.987000	0.45799	0.716000	0.41182	6.350000	0.73017	1.458000	0.47871	0.561000	0.74099	GCC		0.408	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		4	96	0	0	0	1	0	4	96				
BMP2K	55589	broad.mit.edu	37	4	79747251	79747251	+	Missense_Mutation	SNP	G	G	A	rs200424874		TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr4:79747251G>A	ENST00000335016.5	+	2	405	c.239G>A	c.(238-240)cGa>cAa	p.R80Q	BMP2K_ENST00000502871.1_Missense_Mutation_p.R80Q	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	80	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						GCATTGAAGCGAATGTATGTC	0.363																																						ENST00000335016.5																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(238-240)cGa>cAa		BMP2 inducible kinase							126.0	124.0	124.0					4																	79747251		2203	4300	6503	SO:0001583	missense	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79747251G>A	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.239G>A	4.37:g.79747251G>A	ENSP00000334836:p.Arg80Gln					BMP2K_ENST00000502871.1_Missense_Mutation_p.R80Q	p.R80Q	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			2	405	+			80			Protein kinase.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	c.239G>A	CCDS47083.1	.	.	.	.	.	.	.	.	.	.	G	37	5.993336	0.97184	.	.	ENSG00000138756	ENST00000502871;ENST00000335016;ENST00000264889	T;T	0.39997	1.05;1.05	5.81	5.81	0.92471	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.53254	0.1785	N	0.17723	0.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.57877	-0.7735	9	0.87932	D	0	.	19.6778	0.95943	0.0:0.0:1.0:0.0	.	80;80	Q9NSY1;Q4W5H2	BMP2K_HUMAN;.	Q	80	ENSP00000421768:R80Q;ENSP00000334836:R80Q	ENSP00000264889:R80Q	R	+	2	0	BMP2K	79966275	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.189000	0.94928	2.744000	0.94065	0.655000	0.94253	CGA		0.363	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		7	85	0	0	0	1	0	7	85				
ASH1L	55870	broad.mit.edu	37	1	155491263	155491263	+	Silent	SNP	T	T	C			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr1:155491263T>C	ENST00000368346.3	-	2	687	c.48A>G	c.(46-48)gaA>gaG	p.E16E	ASH1L_ENST00000548830.1_Silent_p.E16E|ASH1L_ENST00000392403.3_Silent_p.E16E			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	16					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTGAAAAACCTTCGGAATCAG	0.403																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(46-48)gaA>gaG		ash1 (absent, small, or homeotic)-like (Drosophila)							171.0	167.0	168.0					1																	155491263		2203	4300	6503	SO:0001819	synonymous_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155491263T>C	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.48A>G	1.37:g.155491263T>C						ASH1L_ENST00000392403.3_Silent_p.E16E|ASH1L_ENST00000548830.1_Silent_p.E16E	p.E16E			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		2	687	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		16					Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	ENST00000368346.3	37	c.48A>G																																																																																					0.403	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		4	153	0	0	0	1	0	4	153				
NUP160	23279	broad.mit.edu	37	11	47814391	47814391	+	Nonsense_Mutation	SNP	G	G	A	rs373754603		TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr11:47814391G>A	ENST00000378460.2	-	28	3443	c.3397C>T	c.(3397-3399)Cga>Tga	p.R1133*	NUP160_ENST00000528071.1_Nonsense_Mutation_p.R1019*|NUP160_ENST00000530326.1_Nonsense_Mutation_p.R1019*	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1133					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 export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						CGAATAAGTCGTAAACAATTG	0.463																																						ENST00000378460.2																			0				NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						c.(3397-3399)Cga>Tga		nucleoporin 160kDa							163.0	152.0	156.0					11																	47814391		2201	4298	6499	SO:0001587	stop_gained	23279				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr11:47814391G>A	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.3397C>T	11.37:g.47814391G>A	ENSP00000367721:p.Arg1133*					NUP160_ENST00000530326.1_Nonsense_Mutation_p.R1019*|NUP160_ENST00000528071.1_Nonsense_Mutation_p.R1019*	p.R1133*	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN			28	3443	-			1133					B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Nonsense_Mutation	SNP	ENST00000378460.2	37	c.3397C>T	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	G	38	7.139090	0.98088	.	.	ENSG00000030066	ENST00000378460;ENST00000530326;ENST00000528071	.	.	.	5.44	3.53	0.40419	.	0.165318	0.40640	N	0.001052	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	14.2025	0.65714	0.0:0.0:0.7129:0.2871	.	.	.	.	X	1133;1019;1019	.	ENSP00000367721:R1133X	R	-	1	2	NUP160	47770967	1.000000	0.71417	0.981000	0.43875	0.958000	0.62258	6.288000	0.72679	0.632000	0.30432	-0.175000	0.13238	CGA		0.463	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		10	103	0	0	0	1	0	10	103				
LINC00969	440993	broad.mit.edu	37	3	195400795	195400795	+	lincRNA	SNP	C	C	T	rs7615357	byFrequency	TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr3:195400795C>T	ENST00000445430.1	+	0	1391									long intergenic non-protein coding RNA 969																		GGGGCAAACTCGCTGTTGGAC	0.592																																						ENST00000445430.1																			0																																																			0							g.chr3:195400795C>T	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.195400795C>T														0	1391	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.592	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			3	29	0	0	0	1	0	3	29				
PPP1R42	286187	broad.mit.edu	37	8	67925324	67925324	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr8:67925324C>T	ENST00000324682.5	-	4	448	c.304G>A	c.(304-306)Gga>Aga	p.G102R	PPP1R42_ENST00000522909.1_Missense_Mutation_p.G102R|PPP1R42_ENST00000517834.1_5'UTR	NM_001013626.2	NP_001013648.1	Q7Z4L9	PPR42_HUMAN	protein phosphatase 1, regulatory subunit 42	102					regulation of phosphatase activity (GO:0010921)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|manchette (GO:0002177)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)	actin binding (GO:0003779)|dynein binding (GO:0045502)|tubulin binding (GO:0015631)										TAATTGCCTCCCAGATACCTG	0.383																																						ENST00000522909.1																			0											c.(304-306)Gga>Aga		protein phosphatase 1, regulatory subunit 42							101.0	102.0	102.0					8																	67925324		2203	4300	6503	SO:0001583	missense	286187							g.chr8:67925324C>T	BC055413	CCDS34902.1	8q13.1-q13.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000178125	ENSG00000178125		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	33732	protein-coding gene	gene with protein product	"""testis leucine-rich repeat"""		"""leucine rich repeat containing 67"""	LRRC67			Standard	NM_001013626		Approved	dtr, TLLR	uc003xxc.3	Q7Z4L9	OTTHUMG00000164745	ENST00000324682.5:c.304G>A	8.37:g.67925324C>T	ENSP00000315035:p.Gly102Arg					PPP1R42_ENST00000324682.5_Missense_Mutation_p.G102R|PPP1R42_ENST00000517834.1_5'UTR	p.G102R			Q7Z4L9	LRC67_HUMAN			4	488	-			102						Missense_Mutation	SNP	ENST00000324682.5	37	c.304G>A	CCDS34902.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.029396	0.93518	.	.	ENSG00000178125	ENST00000522909;ENST00000421742;ENST00000324682	T;T	0.09445	2.98;2.98	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.32102	0.0818	M	0.79475	2.455	0.80722	D	1	D	0.60575	0.988	P	0.57425	0.82	T	0.06110	-1.0845	10	0.87932	D	0	-11.3241	19.1563	0.93511	0.0:1.0:0.0:0.0	.	102	Q7Z4L9-2	.	R	102	ENSP00000429721:G102R;ENSP00000315035:G102R	ENSP00000315035:G102R	G	-	1	0	LRRC67	68087878	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.953000	0.70290	2.528000	0.85240	0.650000	0.86243	GGA		0.383	PPP1R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380034.2	NM_001013626		17	59	0	0	0	1	0	17	59				
DNAH9	1770	broad.mit.edu	37	17	11572755	11572755	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr17:11572755G>A	ENST00000262442.4	+	17	3065	c.2997G>A	c.(2995-2997)atG>atA	p.M999I	DNAH9_ENST00000454412.2_Missense_Mutation_p.M999I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	999	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCCAGAGAATGATGGGCCTCT	0.562																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(2995-2997)atG>atA		dynein, axonemal, heavy chain 9							68.0	63.0	65.0					17																	11572755		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11572755G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.2997G>A	17.37:g.11572755G>A	ENSP00000262442:p.Met999Ile					DNAH9_ENST00000454412.2_Missense_Mutation_p.M999I	p.M999I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	17	3065	+		Breast(5;0.0122)|all_epithelial(5;0.131)	999			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.2997G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	5.461	0.270078	0.10349	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.24538	1.89;1.85	4.8	2.82	0.32997	.	0.624529	0.17100	N	0.187050	T	0.11495	0.0280	N	0.11064	0.09	0.58432	D	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.11817	-1.0572	10	0.11485	T	0.65	.	8.3176	0.32111	0.2408:0.0:0.7592:0.0	.	999	Q9NYC9	DYH9_HUMAN	I	999	ENSP00000262442:M999I;ENSP00000414874:M999I	ENSP00000262442:M999I	M	+	3	0	DNAH9	11513480	0.977000	0.34250	0.826000	0.32828	0.026000	0.11368	1.598000	0.36740	0.624000	0.30286	0.655000	0.94253	ATG		0.562	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		8	32	0	0	0	1	0	8	32				
PTCD1	26024	broad.mit.edu	37	7	99022540	99022540	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr7:99022540C>T	ENST00000292478.4	-	6	1865	c.1615G>A	c.(1615-1617)Gcc>Acc	p.A539T	ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.A588T|PTCD1_ENST00000555673.1_Missense_Mutation_p.A588T	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	539					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			AGCGCCTTGGCCCCCTCCAGG	0.617																																						ENST00000292478.4																			0				endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27						c.(1615-1617)Gcc>Acc		pentatricopeptide repeat domain 1							73.0	69.0	70.0					7																	99022540		2203	4300	6503	SO:0001583	missense	26024							g.chr7:99022540C>T	AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.1615G>A	7.37:g.99022540C>T	ENSP00000292478:p.Ala539Thr					ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.A588T|PTCD1_ENST00000555673.1_Missense_Mutation_p.A588T	p.A539T	NM_015545.3	NP_056360.2			STAD - Stomach adenocarcinoma(171;0.215)		6	1865	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)							Q3ZB78|Q66K60|Q9UDV2	Missense_Mutation	SNP	ENST00000292478.4	37	c.1615G>A	CCDS34691.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280054	0.80692	.	.	ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000248919	ENST00000292478;ENST00000438524;ENST00000555673;ENST00000413834	D;T;T	0.81821	-1.54;-1.45;-1.45	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.91768	0.7396	M	0.88181	2.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92803	0.6258	10	0.87932	D	0	-21.588	19.5541	0.95333	0.0:1.0:0.0:0.0	.	588;539	G3V325;O75127	.;PTCD1_HUMAN	T	539;321;588;588	ENSP00000292478:A539T;ENSP00000450995:A588T;ENSP00000400168:A588T	ENSP00000400168:A588T	A	-	1	0	ATP5J2-PTCD1;PTCD1	98860476	1.000000	0.71417	0.902000	0.35471	0.257000	0.26127	7.484000	0.81180	2.617000	0.88574	0.561000	0.74099	GCC		0.617	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545		3	36	0	0	0	1	0	3	36				
PKD2L2	27039	broad.mit.edu	37	5	137235222	137235222	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr5:137235222C>T	ENST00000508883.1	+	5	568	c.542C>T	c.(541-543)tCt>tTt	p.S181F	PKD2L2_ENST00000502810.1_Missense_Mutation_p.S181F|PKD2L2_ENST00000508638.1_Missense_Mutation_p.S181F|PKD2L2_ENST00000350250.4_Missense_Mutation_p.S147F|PKD2L2_ENST00000290431.5_Missense_Mutation_p.S181F			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	181					calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)	integral component of membrane (GO:0016021)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TATTCTACTTCTAATACCAAC	0.353																																						ENST00000508638.1																			0				breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28						c.(541-543)tCt>tTt		polycystic kidney disease 2-like 2							113.0	104.0	107.0					5																	137235222		1826	4095	5921	SO:0001583	missense	27039					integral to membrane	calcium ion binding|ion channel activity	g.chr5:137235222C>T	AF118125	CCDS43367.1, CCDS58971.1, CCDS58972.1	5q31	2011-12-16			ENSG00000078795	ENSG00000078795		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9012	protein-coding gene	gene with protein product		604669				10602361	Standard	NM_014386		Approved	TRPP5	uc003lbw.1	Q9NZM6	OTTHUMG00000163306	ENST00000508883.1:c.542C>T	5.37:g.137235222C>T	ENSP00000424725:p.Ser181Phe					PKD2L2_ENST00000502810.1_Missense_Mutation_p.S181F|PKD2L2_ENST00000508883.1_Missense_Mutation_p.S181F|PKD2L2_ENST00000290431.5_Missense_Mutation_p.S181F|PKD2L2_ENST00000350250.4_Missense_Mutation_p.S147F	p.S181F	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		5	597	+			181					A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Missense_Mutation	SNP	ENST00000508883.1	37	c.542C>T		.	.	.	.	.	.	.	.	.	.	C	18.71	3.681262	0.68042	.	.	ENSG00000078795	ENST00000503015;ENST00000350250;ENST00000508638;ENST00000502810;ENST00000508883;ENST00000290431	T;T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49;-0.49	5.21	5.21	0.72293	Polycystin cation channel, PKD1/PKD2 (1);	0.759743	0.11990	N	0.509947	T	0.81870	0.4914	M	0.65498	2.005	0.28729	N	0.902612	P;D;P	0.69078	0.747;0.997;0.955	P;D;P	0.64321	0.797;0.924;0.542	T	0.75382	-0.3337	10	0.66056	D	0.02	-1.0142	14.3562	0.66740	0.0:0.8518:0.1482:0.0	.	181;181;181	Q9NZM6;E9PC91;Q9NZM6-5	PK2L2_HUMAN;.;.	F	91;147;181;181;181;181	ENSP00000424885:S91F;ENSP00000344177:S147F;ENSP00000423382:S181F;ENSP00000425513:S181F;ENSP00000424725:S181F;ENSP00000290431:S181F	ENSP00000290431:S181F	S	+	2	0	PKD2L2	137263121	0.928000	0.31464	0.913000	0.36048	0.942000	0.58702	3.308000	0.51896	2.564000	0.86499	0.650000	0.86243	TCT		0.353	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372521.1	NM_014386		4	58	0	0	0	1	0	4	58				
DNAH12	201625	broad.mit.edu	37	3	57509313	57509313	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr3:57509313delT	ENST00000351747.2	-	4	456	c.276delA	c.(274-276)aaafs	p.K92fs	DNAH12_ENST00000311202.6_Frame_Shift_Del_p.K92fs|DNAH12_ENST00000389536.4_Frame_Shift_Del_p.K92fs	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	92	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)	p.G93fs*7(2)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						AACTCACTCCTTTTTTTTTCA	0.254																																						ENST00000351747.2																			2	Deletion - Frameshift(2)	p.G93fs*7(2)	lung(2)	breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						c.(274-276)aafs		dynein, axonemal, heavy chain 12			,	40,140,4046		0,0,40,1,138,1934	20.0	22.0	21.0		,	4.3	1.0	3	dbSNP_126	21	45,231,7912		0,0,45,1,229,3819	no	codingComplex,codingComplex	DNAH12	NM_198564.3,NM_178504.4	,	0,0,85,2,367,5753	A1A1,A1A2,A1R,A2A2,A2R,RR		3.3708,4.2593,3.6733	,	,	57509313	85,371,11958	2183	4274	6457	SO:0001589	frameshift_variant	201625				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:57509313delT	U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.276delA	3.37:g.57509313delT	ENSP00000295937:p.Lys92fs					DNAH12_ENST00000389536.4_Frame_Shift_Del_p.K92fs|DNAH12_ENST00000311202.6_Frame_Shift_Del_p.K92fs	p.K92fs	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN			4	456	-			92			Stem (By similarity).		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Frame_Shift_Del	DEL	ENST00000351747.2	37	c.276delA																																																																																					0.254	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		7	53						7	53	---	---	---	---
LINC00969	440993	broad.mit.edu	37	3	195400918	195400919	+	lincRNA	INS	-	-	T	rs55992531|rs397933710		TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr3:195400918_195400919insT	ENST00000445430.1	+	0	1454									long intergenic non-protein coding RNA 969																		AGTCttttttctttttttttga	0.525																																						ENST00000445430.1																			0																																																			0							g.chr3:195400918_195400919insT	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.195400927_195400927dupT														0	1454	+									RNA	INS	ENST00000445430.1	37																																																																																						0.525	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	9						4	9	---	---	---	---
LOC101927237	101927237	broad.mit.edu	37	4	68311853	68311855	+	lincRNA	DEL	GAG	GAG	-			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr4:68311853_68311855delGAG	ENST00000502400.1	-	0	34																											TCTCTATGGCGAGGAGGAGGAGG	0.547																																						ENST00000502400.1																			0																																																			0							g.chr4:68311853_68311855delGAG																													4.37:g.68311862_68311864delGAG														0	34	-									RNA	DEL	ENST00000502400.1	37																																																																																						0.547	RP11-584P21.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000361926.2			3	4						3	4	---	---	---	---
SGK223	157285	broad.mit.edu	37	8	8234868	8234869	+	In_Frame_Ins	INS	-	-	GCCGCT	rs59372311|rs150979349	byFrequency	TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr8:8234868_8234869insGCCGCT	ENST00000520004.1	-	3	1314_1315	c.1050_1051insAGCGGC	c.(1048-1053)ggcgcc>ggcAGCGGCgcc	p.349_350insGS	SGK223_ENST00000330777.4_In_Frame_Ins_p.349_350insGS			Q86YV5	SG223_HUMAN		349							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.G350_A351insSG(1)|p.G350_S351insSG(1)									GGGCTACTGGCGCCGCTGCCGC	0.653														2980	0.595048	0.7254	0.4942	5008	,	,		15838	0.629		0.3827	False		,,,				2504	0.6738				GBM(34;731 755 10259 33573 33867)	ENST00000520004.1																			2	Insertion - In frame(2)	p.G350_A351insSG(1)|p.G350_S351insSG(1)	breast(2)								c.(1048-1053)ggccag>ggAGCGGCccag																																						SO:0001652	inframe_insertion	0						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8234868_8234869insGCCGCT																												ENST00000520004.1:c.1045_1050dupAGCGGC	8.37:g.8234869_8234874dupGCCGCT	ENSP00000428054:p.Gly348_Ser349dup					SGK223_ENST00000330777.4_In_Frame_Ins_p.350_351GQ>GAAQ	p.350_351GQ>GAAQ			Q86YV5	SG223_HUMAN			3	1314_1315	-			350					Q8N3N5	In_Frame_Ins	INS	ENST00000520004.1	37	c.1050_1051insAGCGGC	CCDS43706.1																																																																																				0.653	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			3	5						3	5	---	---	---	---
TM9SF3	56889	broad.mit.edu	37	10	98336475	98336475	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr10:98336475delT	ENST00000371142.4	-	2	430	c.214delA	c.(214-216)agtfs	p.S72fs		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	72						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TGACTGATACTTTTTTTTGAC	0.363																																						ENST00000371142.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15						c.(214-216)gtfs		transmembrane 9 superfamily member 3							146.0	145.0	145.0					10																	98336475		2203	4300	6503	SO:0001589	frameshift_variant	56889					integral to membrane	binding	g.chr10:98336475delT	AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.214delA	10.37:g.98336475delT	ENSP00000360184:p.Ser72fs						p.S72fs	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)	2	430	-		Colorectal(252;0.158)	72					Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Frame_Shift_Del	DEL	ENST00000371142.4	37	c.214delA	CCDS7450.1																																																																																				0.363	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	NM_020123		8	66						8	66	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25310201	25310201	+	RNA	DEL	C	C	-			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr15:25310201delC	ENST00000549804.2	+	0	538				SNORD116-5_ENST00000384462.1_RNA|SNORD116-7_ENST00000384404.1_RNA|SNHG14_ENST00000551077.1_RNA|SNORD116-6_ENST00000384711.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		CCAAAAAAAACATTCCTTGGA	0.473																																						ENST00000549804.2																			0																				186.0	167.0	173.0					15																	25310201		876	1991	2867			0							g.chr15:25310201delC			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25310201delC						SNHG14_ENST00000551077.1_RNA|SNORD116-6_ENST00000384711.1_RNA								0	538	+									RNA	DEL	ENST00000549804.2	37																																																																																						0.473	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	processed_transcript	OTTHUMT00000408278.2			36	260						36	260	---	---	---	---
AQR	9716	broad.mit.edu	37	15	35202391	35202400	+	Frame_Shift_Del	DEL	ACGAACTCGG	ACGAACTCGG	-			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr15:35202391_35202400delACGAACTCGG	ENST00000156471.5	-	17	1824_1833	c.1599_1608delCCGAGTTCGT	c.(1597-1608)acccgagttcgtfs	p.TRVR533fs		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	533					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TAACATCTGCACGAACTCGGGTTGGCCAGT	0.452																																						ENST00000156471.5																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57						c.(1597-1608)acfs		aquarius intron-binding spliceosomal factor																																				SO:0001589	frameshift_variant	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35202391_35202400delACGAACTCGG	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.1599_1608delCCGAGTTCGT	15.37:g.35202391_35202400delACGAACTCGG	ENSP00000156471:p.Thr533fs						p.TRVR533fs	NM_014691.2	NP_055506.1	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	17	1824_1833	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	533					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Frame_Shift_Del	DEL	ENST00000156471.5	37	c.1599_1608delCCGAGTTCGT	CCDS42013.1																																																																																				0.452	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		7	124						7	124	---	---	---	---
CFD	1675	broad.mit.edu	37	19	859719	859719	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XK-AAIV-01A-11D-A41K-08	TCGA-XK-AAIV-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeaabd2b-588d-4ab0-a18d-66fe3cf89520	406a543f-c14a-4f78-bf50-77ea7e9a8ede	g.chr19:859719delG	ENST00000327726.6	+	1	267	c.30delG	c.(28-30)ctgfs	p.L10fs	CFD_ENST00000592860.1_Frame_Shift_Del_p.L10fs	NM_001928.2	NP_001919.2	P00746	CFAD_HUMAN	complement factor D (adipsin)	10					blood coagulation (GO:0007596)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)						Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCAGTTCTGGTCCTCCTAG	0.682																																						ENST00000327726.6																			0											c.(28-30)ctfs		complement factor D (adipsin)							18.0	17.0	17.0					19																	859719		2172	4277	6449	SO:0001589	frameshift_variant	1675				complement activation, alternative pathway|platelet activation|platelet degranulation|proteolysis	platelet alpha granule lumen	serine-type endopeptidase activity	g.chr19:859719delG	M84526	CCDS12046.1	19p13.3	2014-09-17	2006-02-10	2006-02-10		ENSG00000197766		"""Complement system"""	2771	protein-coding gene	gene with protein product		134350	"""D component of complement (adipsin)"", ""properdin factor D"""	DF, PFD		1374388	Standard	NM_001928		Approved	ADN	uc002lqc.3	P00746		ENST00000327726.6:c.30delG	19.37:g.859719delG	ENSP00000332139:p.Leu10fs					CFD_ENST00000592860.1_Frame_Shift_Del_p.L10fs	p.L10fs	NM_001928.2	NP_001919.2	P00746	CFAD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	267	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	10					B4DV76|Q5U5S1|Q86VJ5|Q8N4E0|Q8WZB4	Frame_Shift_Del	DEL	ENST00000327726.6	37	c.30delG	CCDS12046.1																																																																																				0.682	CFD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457891.2	NM_001928		2	4						2	4	---	---	---	---
