#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	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CLCNKB	1188	broad.mit.edu	37	1	16380141	16380141	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:16380141C>T	ENST00000375679.4	+	16	1741	c.1630C>T	c.(1630-1632)Cgc>Tgc	p.R544C	CLCNKB_ENST00000375667.3_Missense_Mutation_p.R375C	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	544					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CAGTTCCCACCGCGTGAGGGT	0.622																																						uc001axw.3		NA																	0				skin(1)	1						c.(1630-1632)CGC>TGC		chloride channel Kb isoform 1							100.0	82.0	88.0					1																	16380141		2203	4300	6503	SO:0001583	missense	1188				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16380141C>T	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.1630C>T	1.37:g.16380141C>T	ENSP00000364831:p.Arg544Cys					FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Missense_Mutation_p.R544C|CLCNKB_uc001axy.3_Missense_Mutation_p.R375C	p.R544C	NM_000085	NP_000076	P51801	CLCKB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	16	1710	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	544					B3KUY3|Q5T5Q7|Q5T5Q8	Missense_Mutation	SNP	ENST00000375679.4	37	c.1630C>T	CCDS168.1	.	.	.	.	.	.	.	.	.	.	c	8.958	0.969939	0.18659	.	.	ENSG00000184908	ENST00000375668;ENST00000375679;ENST00000331579;ENST00000375667;ENST00000431772	D;D;D	0.88277	-2.36;-2.36;-2.36	4.63	-1.67	0.08238	.	1.263460	0.05014	N	0.471451	T	0.81894	0.4919	L	0.40543	1.245	0.43317	D	0.99533	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.001	T	0.68899	-0.5287	10	0.72032	D	0.01	.	2.0834	0.03640	0.1331:0.4236:0.2612:0.1821	.	375;544	Q5T5Q7;P51801	.;CLCKB_HUMAN	C	42;544;416;375;33	ENSP00000364831:R544C;ENSP00000364819:R375C;ENSP00000389344:R33C	ENSP00000332055:R416C	R	+	1	0	CLCNKB	16252728	0.000000	0.05858	0.036000	0.18154	0.506000	0.33950	-2.057000	0.01395	-0.193000	0.10415	0.650000	0.86243	CGC		0.622	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		3	67	0	0	0	0	3	67				
CYP4A11	1579	broad.mit.edu	37	1	47398701	47398701	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:47398701G>A	ENST00000310638.4	-	10	1272	c.1241C>T	c.(1240-1242)tCc>tTc	p.S414F	CYP4A11_ENST00000371905.1_Missense_Mutation_p.S414F|CYP4A11_ENST00000371904.4_Missense_Mutation_p.S415F|CYP4A11_ENST00000496519.1_5'Flank|CYP4A11_ENST00000462347.1_Missense_Mutation_p.S316F	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	414					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	GCCATAAATGGAGAGGAGGAC	0.507																																						uc001cqp.3		NA																	0				ovary(2)|skin(2)	4						c.(1240-1242)TCC>TTC		cytochrome P450, family 4, subfamily A,	NADH(DB00157)						351.0	330.0	337.0					1																	47398701		2203	4300	6503	SO:0001583	missense	1579				long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47398701G>A	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.1241C>T	1.37:g.47398701G>A	ENSP00000311095:p.Ser414Phe					CYP4A11_uc001cqq.2_Missense_Mutation_p.S414F	p.S414F	NM_000778	NP_000769	Q02928	CP4AB_HUMAN			10	1292	-			414					Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	c.1241C>T	CCDS543.1	.	.	.	.	.	.	.	.	.	.	g	15.23	2.770381	0.49680	.	.	ENSG00000187048	ENST00000310638;ENST00000371904;ENST00000371905	T;T;T	0.70045	-0.45;-0.45;-0.45	5.02	0.0103	0.14083	.	0.543263	0.21355	N	0.075911	T	0.49133	0.1539	N	0.16903	0.455	0.58432	D	0.999994	B	0.24721	0.11	B	0.33196	0.159	T	0.42207	-0.9465	10	0.66056	D	0.02	.	8.4343	0.32778	0.0:0.1265:0.2827:0.5909	.	414	Q02928	CP4AB_HUMAN	F	414;415;414	ENSP00000311095:S414F;ENSP00000360971:S415F;ENSP00000360972:S414F	ENSP00000311095:S414F	S	-	2	0	CYP4A11	47171288	0.019000	0.18553	0.066000	0.19879	0.535000	0.34838	0.176000	0.16782	0.216000	0.20781	0.650000	0.86243	TCC		0.507	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		84	357	0	0	0	0	84	357				
LEPR	3953	broad.mit.edu	37	1	66064395	66064395	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:66064395G>A	ENST00000349533.6	+	8	1087	c.902G>A	c.(901-903)gGg>gAg	p.G301E	LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.G301E|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371060.3_Missense_Mutation_p.G301E|LEPR_ENST00000371059.3_Missense_Mutation_p.G301E|LEPR_ENST00000344610.8_Missense_Mutation_p.G301E	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ATACTTCCTGGGTCTTCGTAT	0.448																																						uc001dci.2		NA																	0				skin(1)	1						c.(901-903)GGG>GAG		leptin receptor isoform 1							114.0	109.0	111.0					1																	66064395		2203	4300	6503	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66064395G>A	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.902G>A	1.37:g.66064395G>A	ENSP00000330393:p.Gly301Glu					LEPR_uc001dcg.2_Missense_Mutation_p.G301E|LEPR_uc001dch.2_Missense_Mutation_p.G301E|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.G301E|LEPR_uc001dck.2_Missense_Mutation_p.G301E	p.G301E	NM_002303	NP_002294	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	8	1104	+			301			Extracellular (Potential).|Fibronectin type-III 1.		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.902G>A	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.389601	0.61956	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34	5.81	5.81	0.92471	Short hematopoietin receptor, family 1, conserved site (1);Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.301266	0.40818	N	0.001004	T	0.64057	0.2564	M	0.83852	2.665	0.80722	D	1	P;D;D	0.71674	0.947;0.981;0.998	P;P;D	0.68943	0.576;0.804;0.961	T	0.68051	-0.5511	10	0.48119	T	0.1	-13.8767	9.0146	0.36161	0.1237:0.0:0.8763:0.0	.	301;301;301	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	E	301	ENSP00000340884:G301E;ENSP00000330393:G301E;ENSP00000360099:G301E;ENSP00000360098:G301E;ENSP00000360097:G301E	ENSP00000340884:G301E	G	+	2	0	LEPR	65836983	1.000000	0.71417	0.999000	0.59377	0.379000	0.30106	1.944000	0.40263	2.748000	0.94277	0.455000	0.32223	GGG		0.448	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		17	48	0	0	0	0	17	48				
IL12RB2	3595	broad.mit.edu	37	1	67793933	67793933	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:67793933A>C	ENST00000262345.1	+	5	1170	c.530A>C	c.(529-531)tAt>tCt	p.Y177S	IL12RB2_ENST00000541374.1_Missense_Mutation_p.Y177S|IL12RB2_ENST00000544434.1_Missense_Mutation_p.Y177S|IL12RB2_ENST00000371000.1_Missense_Mutation_p.Y177S	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	177	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						AAAGACATTTATTGTGACTAT	0.398																																						uc001ddu.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(529-531)TAT>TCT		interleukin 12 receptor, beta 2 precursor							188.0	180.0	182.0					1																	67793933		2203	4300	6503	SO:0001583	missense	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67793933A>C	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.530A>C	1.37:g.67793933A>C	ENSP00000262345:p.Tyr177Ser					IL12RB2_uc010oqi.1_Missense_Mutation_p.Y177S|IL12RB2_uc010oqj.1_Missense_Mutation_p.Y177S|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Missense_Mutation_p.Y177S|IL12RB2_uc010oqm.1_Missense_Mutation_p.Y177S|IL12RB2_uc010oqn.1_RNA	p.Y177S	NM_001559	NP_001550	Q99665	I12R2_HUMAN			5	1170	+			177			Extracellular (Potential).|Fibronectin type-III 1.		B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	c.530A>C	CCDS638.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	3.446|3.446	-0.113125|-0.113125	0.06881|0.06881	.|.	.|.	ENSG00000081985|ENSG00000081985	ENST00000441640|ENST00000262345;ENST00000371000;ENST00000541374;ENST00000544434	.|D;D;D;D	.|0.81659	.|-1.52;-1.52;-1.52;-1.52	5.35|5.35	1.69|1.69	0.24217|0.24217	.|Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (3);Immunoglobulin-like fold (1);	.|1.914000	.|0.02015	.|N	.|0.047352	T|T	0.48943|0.48943	0.1528|0.1528	L|L	0.45581|0.45581	1.43|1.43	0.09310|0.09310	N|N	1|1	.|B;P;B;B	.|0.42248	.|0.01;0.774;0.174;0.178	.|B;B;B;B	.|0.37989	.|0.004;0.262;0.069;0.089	T|T	0.41805|0.41805	-0.9488|-0.9488	5|10	.|0.10377	.|T	.|0.69	-0.0998|-0.0998	1.8215|1.8215	0.03112|0.03112	0.5681:0.1745:0.0903:0.1671|0.5681:0.1745:0.0903:0.1671	.|.	.|177;177;177;177	.|B4DGA4;F5H7L6;Q99665-2;Q99665	.|.;.;.;I12R2_HUMAN	F|S	44|177	.|ENSP00000262345:Y177S;ENSP00000360039:Y177S;ENSP00000445276:Y177S;ENSP00000442443:Y177S	.|ENSP00000262345:Y177S	L|Y	+|+	3|2	2|0	IL12RB2|IL12RB2	67566521|67566521	0.009000|0.009000	0.17119|0.17119	0.079000|0.079000	0.20413|0.20413	0.186000|0.186000	0.23388|0.23388	0.906000|0.906000	0.28517|0.28517	0.305000|0.305000	0.22832|0.22832	0.459000|0.459000	0.35465|0.35465	TTA|TAT		0.398	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		56	70	0	0	0	0	56	70				
MSH4	4438	broad.mit.edu	37	1	76272747	76272747	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:76272747A>G	ENST00000263187.3	+	3	613	c.509A>G	c.(508-510)gAa>gGa	p.E170G		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	170					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						GCCAGAGGTGAAATAGGAATG	0.363								Mismatch excision repair (MMR)																														uc001dhd.1		NA																	0				lung(3)|ovary(2)	5						c.(508-510)GAA>GGA	MMR	mutS homolog 4							95.0	103.0	100.0					1																	76272747		2203	4300	6503	SO:0001583	missense	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76272747A>G	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.509A>G	1.37:g.76272747A>G	ENSP00000263187:p.Glu170Gly						p.E170G	NM_002440	NP_002431	O15457	MSH4_HUMAN			3	550	+			170					Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	c.509A>G	CCDS670.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.853664	0.91355	.	.	ENSG00000057468	ENST00000263187	D	0.89343	-2.5	5.82	5.82	0.92795	DNA mismatch repair protein MutS, connector (2);	0.000000	0.85682	D	0.000000	D	0.94631	0.8269	M	0.88570	2.965	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.95084	0.8216	10	0.56958	D	0.05	-5.1229	16.1758	0.81851	1.0:0.0:0.0:0.0	.	170	O15457	MSH4_HUMAN	G	170	ENSP00000263187:E170G	ENSP00000263187:E170G	E	+	2	0	MSH4	76045335	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.768000	0.91737	2.225000	0.72522	0.477000	0.44152	GAA		0.363	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		19	52	0	0	0	0	19	52				
LPHN2	23266	broad.mit.edu	37	1	82415915	82415915	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:82415915T>G	ENST00000370728.1	+	9	1886	c.1241T>G	c.(1240-1242)tTc>tGc	p.F414C	LPHN2_ENST00000271029.4_Missense_Mutation_p.F414C|LPHN2_ENST00000370723.1_Missense_Mutation_p.F414C|LPHN2_ENST00000319517.6_Missense_Mutation_p.F414C|LPHN2_ENST00000394879.1_Missense_Mutation_p.F414C|LPHN2_ENST00000370715.1_Missense_Mutation_p.F414C|LPHN2_ENST00000370727.1_Missense_Mutation_p.F414C|LPHN2_ENST00000370717.2_Missense_Mutation_p.F414C|LPHN2_ENST00000370730.1_Missense_Mutation_p.F414C|LPHN2_ENST00000370721.1_Intron|LPHN2_ENST00000370713.1_Missense_Mutation_p.F414C|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000359929.3_Missense_Mutation_p.F414C|LPHN2_ENST00000335786.5_Missense_Mutation_p.F414C|LPHN2_ENST00000370725.1_Missense_Mutation_p.F414C			O95490	LPHN2_HUMAN	latrophilin 2	414					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GCTGAGCTGTTCAAAACCATA	0.428																																						uc001dit.3		NA																	0				ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9						c.(1240-1242)TTC>TGC		latrophilin 2 precursor							147.0	146.0	146.0					1																	82415915		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82415915T>G	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.1241T>G	1.37:g.82415915T>G	ENSP00000359763:p.Phe414Cys					LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.F414C|LPHN2_uc001div.2_Missense_Mutation_p.F414C|LPHN2_uc009wcd.2_Missense_Mutation_p.F414C|LPHN2_uc001diw.2_5'UTR	p.F414C	NM_012302	NP_036434	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	7	1422	+			414			Extracellular (Potential).		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.1241T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.295|9.295	1.051538|1.051538	0.19827|0.19827	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.68903|.	-0.36;-0.36;-0.3;-0.3;-0.26;-0.32;-0.32;-0.32;-0.32;-0.3;-0.26;-0.3;-0.36|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.315497|.	0.36066|.	N|.	0.002807|.	T|T	0.16685|0.16685	0.0401|0.0401	N|N	0.08118|0.08118	0|0	0.35077|0.35077	D|D	0.763036|0.763036	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.06405|.	0.002;0.001;0.001|.	T|T	0.15838|0.15838	-1.0423|-1.0423	10|5	0.37606|.	T|.	0.19|.	.|.	11.2689|11.2689	0.49127|0.49127	0.1683:0.0:0.0:0.8317|0.1683:0.0:0.0:0.8317	.|.	414;414;414|.	O95490-3;O95490-4;O95490-2|.	.;.;.|.	C|A	414|282	ENSP00000359763:F414C;ENSP00000359765:F414C;ENSP00000359762:F414C;ENSP00000359760:F414C;ENSP00000359758:F414C;ENSP00000353006:F414C;ENSP00000359750:F414C;ENSP00000359748:F414C;ENSP00000322270:F414C;ENSP00000359752:F414C;ENSP00000378344:F414C;ENSP00000271029:F414C;ENSP00000337306:F414C|.	ENSP00000271029:F414C|.	F|S	+|+	2|1	0|0	LPHN2|LPHN2	82188503|82188503	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	1.418000|1.418000	0.34782|0.34782	2.281000|2.281000	0.76405|0.76405	0.533000|0.533000	0.62120|0.62120	TTC|TCA		0.428	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		43	135	0	0	0	0	43	135				
LPHN2	23266	broad.mit.edu	37	1	82416120	82416120	+	Silent	SNP	A	A	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:82416120A>T	ENST00000370728.1	+	9	2091	c.1446A>T	c.(1444-1446)acA>acT	p.T482T	LPHN2_ENST00000271029.4_Silent_p.T482T|LPHN2_ENST00000370723.1_Silent_p.T482T|LPHN2_ENST00000319517.6_Silent_p.T482T|LPHN2_ENST00000394879.1_Silent_p.T482T|LPHN2_ENST00000370715.1_Silent_p.T482T|LPHN2_ENST00000370727.1_Silent_p.T482T|LPHN2_ENST00000370717.2_Silent_p.T482T|LPHN2_ENST00000370730.1_Silent_p.T482T|LPHN2_ENST00000370721.1_Silent_p.T420T|LPHN2_ENST00000370713.1_Silent_p.T482T|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000359929.3_Silent_p.T482T|LPHN2_ENST00000335786.5_Silent_p.T482T|LPHN2_ENST00000370725.1_Silent_p.T482T			O95490	LPHN2_HUMAN	latrophilin 2	482					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GGCCTCAGACACAAAGGGGAA	0.398																																						uc001dit.3		NA																	0				ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9						c.(1444-1446)ACA>ACT		latrophilin 2 precursor							90.0	91.0	91.0					1																	82416120		2203	4300	6503	SO:0001819	synonymous_variant	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82416120A>T	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.1446A>T	1.37:g.82416120A>T						LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Silent_p.T482T|LPHN2_uc001div.2_Silent_p.T482T|LPHN2_uc009wcd.2_Silent_p.T482T|LPHN2_uc001diw.2_Silent_p.T53T	p.T482T	NM_012302	NP_036434	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	7	1627	+			482			Extracellular (Potential).		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Silent	SNP	ENST00000370728.1	37	c.1446A>T		.	.	.	.	.	.	.	.	.	.	A	5.944	0.358245	0.11239	.	.	ENSG00000117114	ENST00000449420	.	.	.	5.88	3.55	0.40652	.	.	.	.	.	T	0.37839	0.1018	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30119	-0.9989	4	.	.	.	.	4.4985	0.11853	0.6849:0.1273:0.066:0.1217	.	.	.	.	L	350	.	.	H	+	2	0	LPHN2	82188708	0.998000	0.40836	1.000000	0.80357	0.986000	0.74619	0.678000	0.25277	0.468000	0.27243	-0.250000	0.11733	CAC		0.398	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		11	36	0	0	0	0	11	36				
SPRR1A	6698	broad.mit.edu	37	1	152957935	152957935	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:152957935G>A	ENST00000368762.1	+	1	229	c.229G>A	c.(229-231)Gtc>Atc	p.V77I	SPRR1A_ENST00000307122.2_Missense_Mutation_p.V77I			P35321	SPR1A_HUMAN	small proline-rich protein 1A	77	6 X 8 AA approximate tandem repeats.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCTTCAACGGTCACTCCAGC	0.617																																						uc009wnu.1		NA																	0					0						c.(229-231)GTC>ATC		small proline-rich protein 1A							99.0	90.0	93.0					1																	152957935		2203	4300	6503	SO:0001583	missense	6698				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	g.chr1:152957935G>A	L05187	CCDS1032.1	1q21-q22	2008-02-05			ENSG00000169474	ENSG00000169474			11259	protein-coding gene	gene with protein product		182265				8325635	Standard	NM_005987		Approved		uc001faw.3	P35321	OTTHUMG00000014404	ENST00000368762.1:c.229G>A	1.37:g.152957935G>A	ENSP00000357751:p.Val77Ile					SPRR1A_uc001faw.2_Missense_Mutation_p.V77I	p.V77I	NM_005987	NP_005978	P35321	SPR1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	307	+	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		77			6.|6 X 8 AA approximate tandem repeats.		B1AN47|D3DV31|Q2M303|Q9UDG4	Missense_Mutation	SNP	ENST00000368762.1	37	c.229G>A	CCDS1032.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.331118	0.24167	.	.	ENSG00000169474	ENST00000307122;ENST00000368762	T;T	0.18502	2.21;2.21	5.45	4.54	0.55810	.	0.499955	0.14907	N	0.291490	T	0.06096	0.0158	.	.	.	0.09310	N	1	B	0.33171	0.4	B	0.34873	0.191	T	0.25257	-1.0137	9	0.41790	T	0.15	-0.0053	9.9821	0.41819	0.0932:0.0:0.9068:0.0	.	77	P35321	SPR1A_HUMAN	I	77	ENSP00000307340:V77I;ENSP00000357751:V77I	ENSP00000307340:V77I	V	+	1	0	SPRR1A	151224559	0.338000	0.24775	0.108000	0.21378	0.049000	0.14656	2.113000	0.41902	1.302000	0.44855	0.555000	0.69702	GTC		0.617	SPRR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040062.1	NM_005987		39	87	0	0	0	0	39	87				
CD1A	909	broad.mit.edu	37	1	158224916	158224916	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:158224916C>G	ENST00000289429.5	+	2	634	c.101C>G	c.(100-102)tCc>tGc	p.S34C		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	34					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TGGATCGCATCCTTTTACAAC	0.478																																						uc001frt.2		NA																	0				pancreas(2)|skin(1)	3						c.(100-102)TCC>TGC		CD1A antigen precursor	Antithymocyte globulin(DB00098)						140.0	117.0	125.0					1																	158224916		2203	4300	6503	SO:0001583	missense	909				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		g.chr1:158224916C>G	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.101C>G	1.37:g.158224916C>G	ENSP00000289429:p.Ser34Cys						p.S34C	NM_001763	NP_001754	P06126	CD1A_HUMAN			2	634	+	all_hematologic(112;0.0378)		34			Extracellular (Potential).		D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	ENST00000289429.5	37	c.101C>G	CCDS1174.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.134267	0.37630	.	.	ENSG00000158477	ENST00000289429	T	0.08282	3.11	4.54	-1.16	0.09678	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.240647	0.21768	N	0.069414	T	0.07593	0.0191	L	0.59967	1.855	0.09310	N	1	D	0.63880	0.993	D	0.75020	0.985	T	0.14035	-1.0487	10	0.72032	D	0.01	-6.722	2.6809	0.05093	0.2992:0.3192:0.2923:0.0894	.	34	P06126	CD1A_HUMAN	C	34	ENSP00000289429:S34C	ENSP00000289429:S34C	S	+	2	0	CD1A	156491540	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.066000	0.11598	-0.396000	0.07703	-0.236000	0.12185	TCC		0.478	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		23	122	0	0	0	0	23	122				
OR6N1	128372	broad.mit.edu	37	1	158735835	158735835	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:158735835A>C	ENST00000335094.2	-	1	657	c.638T>G	c.(637-639)cTg>cGg	p.L213R		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GCAGAGGATCAGCAGGAAGGT	0.498																																						uc010piq.1		NA																	0				ovary(1)	1						c.(637-639)CTG>CGG		olfactory receptor, family 6, subfamily N,							117.0	119.0	118.0					1																	158735835		2203	4300	6503	SO:0001583	missense	128372				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158735835A>C	BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"""GPCR / Class A : Olfactory receptors"""	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.638T>G	1.37:g.158735835A>C	ENSP00000335535:p.Leu213Arg						p.L213R	NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN			1	638	-	all_hematologic(112;0.0378)		213			Helical; Name=5; (Potential).		Q5VUU8|Q96R35	Missense_Mutation	SNP	ENST00000335094.2	37	c.638T>G	CCDS30905.1	.	.	.	.	.	.	.	.	.	.	A	11.69	1.712792	0.30413	.	.	ENSG00000197403	ENST00000335094	T	0.44881	0.91	4.89	4.89	0.63831	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36066	N	0.002808	T	0.56156	0.1966	M	0.92604	3.325	0.22803	N	0.998713	D	0.62365	0.991	P	0.60345	0.873	T	0.58255	-0.7668	10	0.30854	T	0.27	-7.6911	13.6198	0.62130	1.0:0.0:0.0:0.0	.	213	Q8NGY5	OR6N1_HUMAN	R	213	ENSP00000335535:L213R	ENSP00000335535:L213R	L	-	2	0	OR6N1	157002459	0.000000	0.05858	0.986000	0.45419	0.407000	0.30961	1.214000	0.32419	2.033000	0.60031	0.533000	0.62120	CTG		0.498	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185		8	120	0	0	0	0	8	120				
CASQ1	844	broad.mit.edu	37	1	160165806	160165806	+	Silent	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:160165806G>A	ENST00000368078.3	+	6	967	c.771G>A	c.(769-771)gaG>gaA	p.E257E	CASQ1_ENST00000368079.3_Silent_p.E251E|CASQ1_ENST00000467691.1_5'Flank			P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	257					endoplasmic reticulum organization (GO:0007029)|ion transmembrane transport (GO:0034220)|protein polymerization (GO:0051258)|regulation of sequestering of calcium ion (GO:0051282)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to heat (GO:0009408)|response to organic substance (GO:0010033)|sarcomere organization (GO:0045214)|skeletal muscle tissue development (GO:0007519)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna lumen (GO:0014804)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACTTCGTGGAGGAGCACAGGA	0.552																																						uc010pja.1		NA																	0				central_nervous_system(1)	1						c.(769-771)GAG>GAA		calsequestrin 1							72.0	74.0	73.0					1																	160165806		2203	4300	6503	SO:0001819	synonymous_variant	844					mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding	g.chr1:160165806G>A	S73775	CCDS1198.1, CCDS1198.2	1q21	2011-10-19			ENSG00000143318	ENSG00000143318		"""Protein disulfide isomerases"""	1512	protein-coding gene	gene with protein product	"""calsequestrin 1, fast-twitch, skeletal muscle"", ""calmitine"""	114250		CASQ		8406504, 2321095	Standard	NM_001231		Approved	PDIB1	uc010pja.2	P31415	OTTHUMG00000031607	ENST00000368078.3:c.771G>A	1.37:g.160165806G>A							p.E257E	NM_001231	NP_001222	P31415	CASQ1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		6	1028	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		257					B1AKZ2|B2R863|Q8TBW7	Silent	SNP	ENST00000368078.3	37	c.771G>A	CCDS1198.2																																																																																				0.552	CASQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077412.1	NM_001231		10	73	0	0	0	0	10	73				
RGS5	8490	broad.mit.edu	37	1	163122400	163122400	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:163122400C>G	ENST00000313961.5	-	4	601	c.324G>C	c.(322-324)aaG>aaC	p.K108N	RGS5_ENST00000367903.3_Missense_Mutation_p.K128N|RGS5_ENST00000527988.1_5'UTR|RGS5_ENST00000530507.1_Missense_Mutation_p.K108N|RGS5_ENST00000534288.1_5'Flank	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	108	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			TCTCAGCCATCTTGGCAGGGG	0.448																																						uc001gcn.2		NA																	0					0						c.(322-324)AAG>AAC		regulator of G-protein signalling 5							188.0	189.0	189.0					1																	163122400		2203	4299	6502	SO:0001583	missense	8490				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:163122400C>G	AF030108	CCDS1244.1, CCDS55652.1, CCDS58041.1	1q23.1	2008-02-05	2007-08-14		ENSG00000143248	ENSG00000143248		"""Regulators of G-protein signaling"""	10001	protein-coding gene	gene with protein product		603276	"""regulator of G-protein signalling 5"""			9747037	Standard	NM_003617		Approved		uc021pdt.1	O15539	OTTHUMG00000034441	ENST00000313961.5:c.324G>C	1.37:g.163122400C>G	ENSP00000319308:p.Lys108Asn					RGS5_uc009wvb.2_RNA	p.K108N	NM_003617	NP_003608	O15539	RGS5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.187)		4	571	-			108			RGS.		E9PMP5|Q53XA9|Q599J0	Missense_Mutation	SNP	ENST00000313961.5	37	c.324G>C	CCDS1244.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945473	0.53079	.	.	ENSG00000143248	ENST00000313961;ENST00000367903;ENST00000530507;ENST00000531476	T;T;T;D	0.86769	4.44;4.44;4.44;-2.17	5.51	4.59	0.56863	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.046925	0.85682	D	0.000000	D	0.83013	0.5162	M	0.77313	2.365	0.48830	D	0.999716	B	0.17465	0.022	B	0.32864	0.154	T	0.82983	-0.0186	9	0.72032	D	0.01	.	11.2723	0.49147	0.0:0.9095:0.0:0.0905	.	108	O15539	RGS5_HUMAN	N	108;128;108;71	ENSP00000319308:K108N;ENSP00000356879:K128N;ENSP00000433001:K108N;ENSP00000435861:K71N	ENSP00000319308:K108N	K	-	3	2	RGS5	161389024	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.453000	0.35167	1.297000	0.44761	0.655000	0.94253	AAG		0.448	RGS5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083264.1	NM_003617		62	282	0	0	0	0	62	282				
TBX19	9095	broad.mit.edu	37	1	168260618	168260618	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:168260618T>C	ENST00000367821.3	+	2	475	c.424T>C	c.(424-426)Ttc>Ctc	p.F142L		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	142					anatomical structure morphogenesis (GO:0009653)|cell fate commitment (GO:0045165)|pituitary gland development (GO:0021983)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					TCCCATCTCCTTCAGCAAAGT	0.622																																						uc001gfl.2		NA																	0					0						c.(424-426)TTC>CTC		T-box 19							86.0	96.0	92.0					1																	168260618		2203	4300	6503	SO:0001583	missense	9095				anatomical structure morphogenesis	nucleus	DNA binding	g.chr1:168260618T>C	AJ010277	CCDS1272.1	1q23-q24	2008-02-05			ENSG00000143178	ENSG00000143178		"""T-boxes"""	11596	protein-coding gene	gene with protein product	"""TBS 19"""	604614				9888994	Standard	NM_005149		Approved	dj747L4.1, TPIT	uc001gfl.3	O60806	OTTHUMG00000034648	ENST00000367821.3:c.424T>C	1.37:g.168260618T>C	ENSP00000356795:p.Phe142Leu					TBX19_uc001gfj.3_Missense_Mutation_p.F73L	p.F142L	NM_005149	NP_005140	O60806	TBX19_HUMAN			2	475	+	all_hematologic(923;0.215)		142			T-box.		Q52M53	Missense_Mutation	SNP	ENST00000367821.3	37	c.424T>C	CCDS1272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	29.5|29.5	5.007323|5.007323	0.93287|0.93287	.|.	.|.	ENSG00000143178|ENSG00000143178	ENST00000367821;ENST00000367828|ENST00000431969	D|.	0.87103|.	-2.21|.	5.51|5.51	5.51|5.51	0.81932|0.81932	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);|.	0.113496|.	0.64402|.	D|.	0.000010|.	D|D	0.86460|0.86460	0.5938|0.5938	H|H	0.97540|0.97540	4.025|4.025	0.49483|.	D|.	0.999792|.	D;D|.	0.89917|.	1.0;0.996|.	D;P|.	0.91635|.	0.999;0.899|.	D|D	0.91385|0.91385	0.5130|0.5130	9|4	0.87932|.	D|.	0|.	.|.	15.3014|15.3014	0.73955|0.73955	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	142;73|.	O60806;B3KRD9|.	TBX19_HUMAN;.|.	L|P	142;82|74	ENSP00000356795:F142L|.	ENSP00000356795:F142L|.	F|L	+|+	1|2	0|0	TBX19|TBX19	166527242|166527242	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.587000|7.587000	0.82613|0.82613	2.103000|2.103000	0.63969|0.63969	0.533000|0.533000	0.62120|0.62120	TTC|CTT		0.622	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083825.1	NM_005149		34	175	0	0	0	0	34	175				
NUAK2	81788	broad.mit.edu	37	1	205272810	205272811	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:205272810_205272811TC>AT	ENST00000367157.3	-	7	1780_1781	c.1654_1655GA>AT	c.(1654-1656)GAg>ATg	p.E552M		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2											breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GTCAAAGGACTCAGAGGACAGG	0.673																																						uc001hce.2		NA																	0				ovary(3)|stomach(1)|breast(1)	5						c.(1654-1656)GAG>ATG		NUAK family, SNF1-like kinase, 2																																				SO:0001583	missense	81788				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:205272810_205272811TC>AT	AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"""SNF1/AMP activated protein kinase"""	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.1654_1655delinsAT	1.37:g.205272810_205272811delinsAT	ENSP00000356125:p.Glu552Met						p.E552M	NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		7	1781_1782	-	Breast(84;0.186)		552						Missense_Mutation	DNP	ENST00000367157.3	37	c.1654_1655GA>AT	CCDS1453.1																																																																																				0.673	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1	NM_030952		7	50	0	0	0	0	7	50				
PROX1	5629	broad.mit.edu	37	1	214170581	214170581	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr1:214170581G>A	ENST00000366958.4	+	2	1311	c.703G>A	c.(703-705)Gag>Aag	p.E235K	PROX1_ENST00000435016.1_Missense_Mutation_p.E235K|PROX1_ENST00000498508.2_Missense_Mutation_p.E235K|PROX1_ENST00000261454.4_Missense_Mutation_p.E235K	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	235					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GAAGCGAGAGGAGCGCCGACA	0.498																																						uc001hkh.2		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6						c.(703-705)GAG>AAG		prospero homeobox 1							38.0	41.0	40.0					1																	214170581		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214170581G>A	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.703G>A	1.37:g.214170581G>A	ENSP00000355925:p.Glu235Lys					PROX1_uc001hkg.1_Missense_Mutation_p.E235K	p.E235K	NM_002763	NP_002754	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	975	+			235					A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.703G>A	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.484920	0.84854	.	.	ENSG00000117707	ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.42359	0.1199	L	0.54323	1.7	0.80722	D	1	D	0.64830	0.994	P	0.62298	0.9	T	0.03202	-1.1061	10	0.49607	T	0.09	-5.5046	19.9472	0.97186	0.0:0.0:1.0:0.0	.	235	Q92786	PROX1_HUMAN	K	235	ENSP00000420283:E235K;ENSP00000355925:E235K;ENSP00000400694:E235K;ENSP00000261454:E235K	ENSP00000261454:E235K	E	+	1	0	PROX1	212237204	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.805000	0.96524	0.655000	0.94253	GAG		0.498	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		10	48	0	0	0	0	10	48				
PRKCQ	5588	broad.mit.edu	37	10	6470234	6470234	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:6470234T>C	ENST00000263125.5	-	18	2155	c.2056A>G	c.(2056-2058)Atg>Gtg	p.M686V	PRKCQ_ENST00000539722.1_Missense_Mutation_p.M561V|PRKCQ_ENST00000397176.2_Missense_Mutation_p.M623V	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	686	AGC-kinase C-terminal.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	TTCTGGTCCATGCTGTTGATC	0.468																																					Ovarian(50;572 1126 10530 25349 30594)	uc001ijj.1		NA																	0				ovary(3)|lung(2)|large_intestine(1)	6						c.(2056-2058)ATG>GTG		protein kinase C, theta							201.0	207.0	205.0					10																	6470234		2203	4300	6503	SO:0001583	missense	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6470234T>C	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.2056A>G	10.37:g.6470234T>C	ENSP00000263125:p.Met686Val					PRKCQ_uc009xim.1_Missense_Mutation_p.M623V|PRKCQ_uc001iji.1_Missense_Mutation_p.M719V|PRKCQ_uc009xin.1_Missense_Mutation_p.M650V|PRKCQ_uc010qax.1_Missense_Mutation_p.M561V	p.M686V	NM_006257	NP_006248	Q04759	KPCT_HUMAN			18	2131	-			686			AGC-kinase C-terminal.		B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	ENST00000263125.5	37	c.2056A>G	CCDS7079.1	.	.	.	.	.	.	.	.	.	.	T	15.50	2.851728	0.51270	.	.	ENSG00000065675	ENST00000263125;ENST00000397176;ENST00000539722	T;T;T	0.54866	0.55;0.55;0.55	5.56	5.56	0.83823	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.044055	0.85682	D	0.000000	T	0.50684	0.1630	L	0.37697	1.125	0.80722	D	1	B;B;B;B	0.25904	0.017;0.137;0.033;0.001	B;B;B;B	0.36289	0.058;0.221;0.075;0.011	T	0.52411	-0.8579	10	0.62326	D	0.03	.	15.402	0.74849	0.0:0.0:0.0:1.0	.	561;458;623;686	B4DF52;Q5JUN8;Q04759-2;Q04759	.;.;.;KPCT_HUMAN	V	686;623;561	ENSP00000263125:M686V;ENSP00000380361:M623V;ENSP00000441752:M561V	ENSP00000263125:M686V	M	-	1	0	PRKCQ	6510240	1.000000	0.71417	0.998000	0.56505	0.913000	0.54294	4.438000	0.59961	2.114000	0.64651	0.459000	0.35465	ATG		0.468	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		122	93	0	0	0	0	122	93				
ASCC1	51008	broad.mit.edu	37	10	73892814	73892814	+	Splice_Site	SNP	C	C	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:73892814C>G	ENST00000342444.4	-	9	1057		c.e9+1		ASCC1_ENST00000317168.6_Splice_Site|ASCC1_ENST00000394919.1_Splice_Site|ASCC1_ENST00000394915.3_Splice_Site|ASCC1_ENST00000317126.4_Splice_Site|ASCC1_ENST00000545550.1_Splice_Site	NM_001198799.2	NP_001185728.1	Q8N9N2	ASCC1_HUMAN	activating signal cointegrator 1 complex subunit 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|transcription factor complex (GO:0005667)	catalytic activity (GO:0003824)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7						GGGGGACTTACCATTGGGGTC	0.428																																						uc001jst.1		NA																	0					0						c.e9+1		RecName: Full=Activating signal cointegrator 1 complex subunit 1; AltName: Full=ASC-1 complex subunit p50; AltName: Full=Trip4 complex subunit p50;							122.0	118.0	119.0					10																	73892814		2203	4300	6503	SO:0001630	splice_region_variant	51008				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	RNA binding	g.chr10:73892814C>G	AY013290	CCDS31219.1, CCDS55713.1	10q22.1	2012-09-20			ENSG00000138303	ENSG00000138303			24268	protein-coding gene	gene with protein product		614215				10810093, 12077347	Standard	NM_001198799		Approved	CGI-18, ASC1p50, Em:AC022392.3	uc001jst.2	Q8N9N2	OTTHUMG00000018434	ENST00000342444.4:c.955+1G>C	10.37:g.73892814C>G						ASCC1_uc001jsr.1_Splice_Site_p.A206_splice|ASCC1_uc001jss.1_Splice_Site_p.A291_splice|ASCC1_uc001jsu.1_Splice_Site_p.A291_splice|ASCC1_uc010qju.1_Splice_Site_p.A312_splice	p.A319_splice			Q8N9N2	ASCC1_HUMAN			9	1063	-								Q5SW06|Q5SW07|Q96EI8|Q9Y307	Splice_Site	SNP	ENST00000342444.4	37	c.955_splice	CCDS55713.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.209166	0.79240	.	.	ENSG00000138303	ENST00000394919;ENST00000342444;ENST00000317168;ENST00000373101;ENST00000486689;ENST00000503308;ENST00000530394;ENST00000317126;ENST00000545550;ENST00000394915;ENST00000525286	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1187	0.86696	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ASCC1	73562820	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.019000	0.70818	2.776000	0.95493	0.655000	0.94253	.		0.428	ASCC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048573.2	NM_015947	Intron	10	81	0	0	0	0	10	81				
DLG5	9231	broad.mit.edu	37	10	79616567	79616567	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:79616567G>T	ENST00000372391.2	-	3	462	c.457C>A	c.(457-459)Ctg>Atg	p.L153M	DLG5_ENST00000372388.2_Missense_Mutation_p.L153M	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	153					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ATCAGCCGCAGCTGAATGGAG	0.597																																						uc001jzk.2		NA																	0				ovary(5)|breast(3)	8						c.(457-459)CTG>ATG		discs large homolog 5							49.0	50.0	50.0					10																	79616567		2203	4300	6503	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79616567G>T	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.457C>A	10.37:g.79616567G>T	ENSP00000361467:p.Leu153Met					DLG5_uc009xru.1_RNA	p.L153M	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		3	527	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		153					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.457C>A	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	G	15.70	2.909580	0.52439	.	.	ENSG00000151208	ENST00000372391;ENST00000372388	T;T	0.58797	0.31;0.31	5.36	4.46	0.54185	.	0.000000	0.30227	N	0.010116	T	0.76140	0.3946	M	0.85373	2.75	0.33734	D	0.618587	D	0.89917	1.0	D	0.91635	0.999	D	0.84121	0.0406	10	0.66056	D	0.02	.	10.3844	0.44132	0.15:0.0:0.85:0.0	.	153	Q8TDM6	DLG5_HUMAN	M	153	ENSP00000361467:L153M;ENSP00000361464:L153M	ENSP00000361464:L153M	L	-	1	2	DLG5	79286573	1.000000	0.71417	0.997000	0.53966	0.066000	0.16364	3.575000	0.53870	1.259000	0.44117	0.561000	0.74099	CTG		0.597	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			7	58	1	0	0.00307968	0.00321747	7	58				
SH2D4B	387694	broad.mit.edu	37	10	82330001	82330001	+	Silent	SNP	C	C	T	rs149783849		TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:82330001C>T	ENST00000470604.2	+	2	273	c.273C>T	c.(271-273)taC>taT	p.Y91Y	SH2D4B_ENST00000339284.2_Silent_p.Y92Y|SH2D4B_ENST00000313455.4_Silent_p.Y43Y			Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	91										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			ACAAGCCCTACGAAGAGATCT	0.597													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16270	0.0		0.0	False		,,,				2504	0.0					uc001kck.1		NA																	0					0						c.(274-276)TAC>TAT		SH2 domain containing 4B isoform 1		C	,	4,4402	8.1+/-20.4	0,4,2199	93.0	92.0	92.0		129,276	-8.8	0.6	10	dbSNP_134	92	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SH2D4B	NM_001145719.1,NM_207372.2	,	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	,	43/310,92/358	82330001	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	387694							g.chr10:82330001C>T		CCDS7370.1, CCDS44449.1	10q23.1	2013-02-14			ENSG00000178217	ENSG00000178217		"""SH2 domain containing"""	31440	protein-coding gene	gene with protein product							Standard	NM_207372		Approved		uc001kck.1	Q5SQS7	OTTHUMG00000018617	ENST00000470604.2:c.273C>T	10.37:g.82330001C>T						SH2D4B_uc001kcl.1_Silent_p.Y43Y	p.Y92Y	NM_207372	NP_997255	Q5SQS7	SH24B_HUMAN	Colorectal(32;0.229)		2	706	+			91					Q5SQS5|Q6ZVW9|Q6ZVZ3	Silent	SNP	ENST00000470604.2	37	c.276C>T																																																																																					0.597	SH2D4B-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_351984		36	93	0	0	0	0	36	93				
IFIT5	24138	broad.mit.edu	37	10	91177539	91177539	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:91177539T>G	ENST00000371795.4	+	2	796	c.583T>G	c.(583-585)Tct>Gct	p.S195A	IFIT5_ENST00000416601.1_Intron	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	195					defense response to virus (GO:0051607)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|ruffle membrane (GO:0032587)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(4)	9						TAGAGAAGGGTCTGTAAAGAG	0.448																																						uc010qnh.1		NA																	0					0						c.(583-585)TCT>GCT		interferon-induced protein with							64.0	71.0	69.0					10																	91177539		2203	4299	6502	SO:0001583	missense	24138						binding	g.chr10:91177539T>G	U34605	CCDS7403.1	10q23.31	2013-01-10			ENSG00000152778	ENSG00000152778		"""Tetratricopeptide (TTC) repeat domain containing"""	13328	protein-coding gene	gene with protein product	"""retinoic acid- and interferon-inducible protein (58kD)"""					9398535	Standard	NM_012420		Approved	RI58	uc010qnh.2	Q13325	OTTHUMG00000018713	ENST00000371795.4:c.583T>G	10.37:g.91177539T>G	ENSP00000360860:p.Ser195Ala					IFIT5_uc010qng.1_Intron	p.S195A	NM_012420	NP_036552	Q13325	IFIT5_HUMAN			2	814	+			195			TPR 4.		B2R5X9|B4DDV1|Q5T7I9|Q6IAX3	Missense_Mutation	SNP	ENST00000371795.4	37	c.583T>G	CCDS7403.1	.	.	.	.	.	.	.	.	.	.	T	0.772	-0.765481	0.02996	.	.	ENSG00000152778	ENST00000371795	T	0.28255	1.62	5.66	-0.506	0.11989	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.888098	0.09872	N	0.744746	T	0.14013	0.0339	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.14023	0.01	T	0.30149	-0.9988	10	0.28530	T	0.3	-1.3163	7.1249	0.25467	0.0:0.4499:0.15:0.4	.	195	Q13325	IFIT5_HUMAN	A	195	ENSP00000360860:S195A	ENSP00000360860:S195A	S	+	1	0	IFIT5	91167519	0.000000	0.05858	0.245000	0.24217	0.590000	0.36582	-0.161000	0.10026	0.097000	0.17492	0.533000	0.62120	TCT		0.448	IFIT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049303.1	NM_012420		5	74	0	0	0	0	5	74				
BTAF1	9044	broad.mit.edu	37	10	93741428	93741428	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:93741428C>T	ENST00000265990.6	+	16	2092	c.1784C>T	c.(1783-1785)tCa>tTa	p.S595L	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	595					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				AGTAAGGCTTCAGTTCAGTAT	0.398																																						uc001khr.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1783-1785)TCA>TTA		BTAF1 RNA polymerase II, B-TFIID transcription							158.0	158.0	158.0					10																	93741428		2203	4300	6503	SO:0001583	missense	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93741428C>T	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.1784C>T	10.37:g.93741428C>T	ENSP00000265990:p.Ser595Leu					BTAF1_uc001khs.1_Missense_Mutation_p.S265L|BTAF1_uc001kht.1_Missense_Mutation_p.S33L	p.S595L	NM_003972	NP_003963	O14981	BTAF1_HUMAN			16	1882	+		Colorectal(252;0.0846)	595			HEAT 4.		B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	c.1784C>T	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665810	0.88251	.	.	ENSG00000095564	ENST00000265990	D	0.90563	-2.69	5.89	5.89	0.94794	Domain of unknown function DUF3535 (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.062148	0.64402	D	0.000002	D	0.89952	0.6864	L	0.53249	1.67	0.80722	D	1	B;B	0.30870	0.298;0.298	B;B	0.34093	0.175;0.175	D	0.86904	0.2056	10	0.39692	T	0.17	-24.3355	20.2625	0.98452	0.0:1.0:0.0:0.0	.	595;595	Q2M1V9;O14981	.;BTAF1_HUMAN	L	595	ENSP00000265990:S595L	ENSP00000265990:S595L	S	+	2	0	BTAF1	93731408	1.000000	0.71417	0.997000	0.53966	0.940000	0.58332	5.975000	0.70475	2.782000	0.95742	0.557000	0.71058	TCA		0.398	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		34	183	0	0	0	0	34	183				
DNTT	1791	broad.mit.edu	37	10	98078208	98078208	+	Silent	SNP	C	C	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:98078208C>A	ENST00000371174.2	+	2	405	c.303C>A	c.(301-303)ctC>ctA	p.L101L	DNTT_ENST00000419175.1_Silent_p.L101L			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	101	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		AACCAGAGCTCCTCGATGTCT	0.488																																						uc001kmf.2		NA																	0				ovary(1)	1						c.(301-303)CTC>CTA		terminal deoxynucleotidyltransferase isoform 1							161.0	149.0	153.0					10																	98078208		2203	4300	6503	SO:0001819	synonymous_variant	1791				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr10:98078208C>A	AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"""DNA polymerases"""	2983	protein-coding gene	gene with protein product	"""Terminal deoxynucleotidyltransferase"""	187410	"""deoxynucleotidyltransferase, terminal"""				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.303C>A	10.37:g.98078208C>A						DNTT_uc001kmg.2_Silent_p.L101L	p.L101L	NM_004088	NP_004079	P04053	TDT_HUMAN		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)	2	473	+		Colorectal(252;0.0815)|all_hematologic(284;0.224)	101			BRCT.		Q53FH1|Q5W103|Q96E50	Silent	SNP	ENST00000371174.2	37	c.303C>A	CCDS7447.1																																																																																				0.488	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1	NM_004088		52	110	1	0	5.14e-22	6.01e-22	52	110				
SORCS1	114815	broad.mit.edu	37	10	108437080	108437080	+	Missense_Mutation	SNP	C	C	T	rs201674495		TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:108437080C>T	ENST00000263054.6	-	13	1830	c.1823G>A	c.(1822-1824)cGa>cAa	p.R608Q	SORCS1_ENST00000369698.1_Missense_Mutation_p.R143Q|SORCS1_ENST00000344440.6_Missense_Mutation_p.R608Q	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	608					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)		CCAAAGATGTCGAATTGGGAG	0.463																																						uc001kym.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(1822-1824)CGA>CAA		SORCS receptor 1 isoform a							205.0	160.0	175.0					10																	108437080		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108437080C>T	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.1823G>A	10.37:g.108437080C>T	ENSP00000263054:p.Arg608Gln					SORCS1_uc001kyl.2_Missense_Mutation_p.R608Q|SORCS1_uc009xxs.2_Missense_Mutation_p.R608Q|SORCS1_uc001kyn.1_Missense_Mutation_p.R608Q|SORCS1_uc001kyo.2_Missense_Mutation_p.R608Q	p.R608Q	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	13	1831	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	608			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.1823G>A	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	34	5.329043	0.95733	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.43294	0.95;0.95;0.95	5.96	5.96	0.96718	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.69223	0.3087	M	0.82517	2.595	0.44927	D	0.997945	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.70487	0.932;0.959;0.969;0.932;0.969	T	0.69045	-0.5249	9	.	.	.	-11.5898	20.4084	0.99013	0.0:1.0:0.0:0.0	.	608;608;608;608;608	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	Q	143;608;608	ENSP00000358712:R143Q;ENSP00000263054:R608Q;ENSP00000345964:R608Q	.	R	-	2	0	SORCS1	108427070	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.473000	0.81007	2.833000	0.97629	0.650000	0.86243	CGA		0.463	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		22	53	0	0	0	0	22	53				
SORCS1	114815	broad.mit.edu	37	10	108489807	108489807	+	Splice_Site	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:108489807C>T	ENST00000263054.6	-	6	1032		c.e6+1		SORCS1_ENST00000344440.6_Splice_Site	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1						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)		GATTTACTTACGACCATCCAC	0.383																																						uc001kym.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.e6+1		SORCS receptor 1 isoform a							136.0	116.0	122.0					10																	108489807		2203	4300	6503	SO:0001630	splice_region_variant	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108489807C>T	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.1024+1G>A	10.37:g.108489807C>T						SORCS1_uc001kyl.2_Splice_Site_p.H342_splice|SORCS1_uc009xxs.2_Splice_Site_p.H342_splice|SORCS1_uc001kyn.1_Splice_Site_p.H342_splice|SORCS1_uc001kyo.2_Splice_Site_p.H342_splice	p.H342_splice	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	6	1032	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)						A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Splice_Site	SNP	ENST00000263054.6	37	c.1024_splice	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388326	0.82902	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.535	0.75996	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SORCS1	108479797	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.218000	0.58554	2.741000	0.93983	0.585000	0.79938	.		0.383	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918	Intron	4	81	0	0	0	0	4	81				
EDRF1	26098	broad.mit.edu	37	10	127414390	127414390	+	Missense_Mutation	SNP	C	C	G	rs149421957		TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:127414390C>G	ENST00000356792.4	+	6	1007	c.775C>G	c.(775-777)Ccc>Gcc	p.P259A	C10orf137_ENST00000337623.3_Missense_Mutation_p.P259A	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		259					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TTCTGAAGATCCCAGTGCTTC	0.408																																						uc001liq.1		NA																	0				ovary(5)|large_intestine(3)|lung(2)	10						c.(775-777)CCC>GCC		erythroid differentiation-related factor 1							75.0	73.0	74.0					10																	127414390		2203	4300	6503	SO:0001583	missense	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127414390C>G																												ENST00000356792.4:c.775C>G	10.37:g.127414390C>G	ENSP00000349244:p.Pro259Ala					C10orf137_uc001lin.2_Missense_Mutation_p.P259A|C10orf137_uc001lio.1_Missense_Mutation_p.P259A|C10orf137_uc001lip.1_Translation_Start_Site	p.P259A	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN			6	1068	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	259					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	c.775C>G	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.861678	0.32884	.	.	ENSG00000107938	ENST00000356792;ENST00000392732;ENST00000337623	.	.	.	4.59	4.59	0.56863	.	1.289020	0.05099	N	0.486675	T	0.51160	0.1658	L	0.31926	0.97	0.39744	D	0.971797	B;B;B	0.13594	0.002;0.0;0.008	B;B;B	0.10450	0.003;0.001;0.005	T	0.06552	-1.0820	9	0.27082	T	0.32	.	13.2821	0.60222	0.0:0.7134:0.2866:0.0	.	259;259;259	Q3B7T1;Q3B7T1-5;Q3B7T1-3	EDRF1_HUMAN;.;.	A	259	.	ENSP00000336727:P259A	P	+	1	0	C10orf137	127404380	0.917000	0.31117	1.000000	0.80357	0.995000	0.86356	1.432000	0.34936	2.545000	0.85829	0.650000	0.86243	CCC		0.408	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			5	63	0	0	0	0	5	63				
UROS	7390	broad.mit.edu	37	10	127503624	127503624	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:127503624C>G	ENST00000368797.4	-	4	447	c.223G>C	c.(223-225)Gag>Cag	p.E75Q	UROS_ENST00000368774.1_Missense_Mutation_p.E75Q|UROS_ENST00000368778.3_Missense_Mutation_p.E75Q|UROS_ENST00000368786.1_Missense_Mutation_p.E75Q	NM_000375.2	NP_000366.1	P10746	HEM4_HUMAN	uroporphyrinogen III synthase	75					cellular response to amine stimulus (GO:0071418)|cellular response to arsenic-containing substance (GO:0071243)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to antibiotic (GO:0046677)|small molecule metabolic process (GO:0044281)|uroporphyrinogen III biosynthetic process (GO:0006780)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|uroporphyrinogen-III synthase activity (GO:0004852)	p.E75K(1)		endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				TTGTTTTGCTCCAAACATAAC	0.443																																						uc001liw.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(223-225)GAG>CAG		uroporphyrinogen III synthase							100.0	104.0	103.0					10																	127503624		2203	4300	6503	SO:0001583	missense	7390				heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity	g.chr10:127503624C>G	J03824	CCDS7648.1	10q25.2-q26.3	2008-07-31	2008-07-31		ENSG00000188690	ENSG00000188690	4.2.1.75		12592	protein-coding gene	gene with protein product	"""congenital erythropoietic porphyria"""	606938				2037278	Standard	NM_000375		Approved		uc001lix.4	P10746	OTTHUMG00000019236	ENST00000368797.4:c.223G>C	10.37:g.127503624C>G	ENSP00000357787:p.Glu75Gln					UROS_uc001liv.3_5'UTR|UROS_uc010quh.1_RNA|UROS_uc001lix.3_Missense_Mutation_p.E75Q|UROS_uc001liy.3_RNA|UROS_uc001liz.2_RNA	p.E75Q	NM_000375	NP_000366	P10746	HEM4_HUMAN			3	356	-		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)	75					B2RC13|D3DRF7|Q9H2T1	Missense_Mutation	SNP	ENST00000368797.4	37	c.223G>C	CCDS7648.1	.	.	.	.	.	.	.	.	.	.	C	9.010	0.982145	0.18889	.	.	ENSG00000188690	ENST00000368797;ENST00000368786;ENST00000420761;ENST00000368778;ENST00000368774	D;D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11;-3.11	5.43	2.59	0.31030	Tetrapyrrole biosynthesis, uroporphyrinogen III synthase (2);	0.347525	0.32952	N	0.005458	T	0.81465	0.4828	N	0.16166	0.38	0.41973	D	0.990761	B	0.12013	0.005	B	0.14578	0.011	T	0.69079	-0.5240	10	0.24483	T	0.36	-7.8264	6.7956	0.23722	0.0:0.6977:0.1447:0.1576	.	75	P10746	HEM4_HUMAN	Q	75;75;47;75;75	ENSP00000357787:E75Q;ENSP00000357775:E75Q;ENSP00000414833:E47Q;ENSP00000357767:E75Q;ENSP00000357763:E75Q	ENSP00000357763:E75Q	E	-	1	0	UROS	127493614	0.672000	0.27530	0.947000	0.38551	0.247000	0.25773	0.969000	0.29370	0.421000	0.25980	0.655000	0.94253	GAG		0.443	UROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050929.1	NM_000375		6	59	0	0	0	0	6	59				
MUC5B	727897	broad.mit.edu	37	11	1272931	1272931	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:1272931A>G	ENST00000529681.1	+	31	14879	c.14821A>G	c.(14821-14823)Act>Gct	p.T4941A	MUC5B_ENST00000447027.1_Missense_Mutation_p.T4944A|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4941					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACTTCTCTACTCCCTGCTT	0.582																																						uc009ycr.1		NA																	0					0						c.(15787-15789)ACT>GCT		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							53.0	59.0	57.0					11																	1272931		2091	4219	6310	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1272931A>G	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14821A>G	11.37:g.1272931A>G	ENSP00000436812:p.Thr4941Ala					MUC5B_uc001ltb.2_Missense_Mutation_p.T4944A	p.T5263A	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	52	15913	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4941					O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.15787A>G	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	A	7.893	0.732632	0.15507	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.22945	1.93;2.1	3.84	-4.94	0.03057	.	.	.	.	.	T	0.15305	0.0369	L	0.49126	1.545	0.09310	N	1	P;P	0.34724	0.465;0.465	B;B	0.27608	0.081;0.081	T	0.14559	-1.0468	9	0.87932	D	0	.	1.4521	0.02377	0.3547:0.3485:0.1014:0.1954	.	5263;4944	A7Y9J9;E9PBJ0	.;.	A	4941;4944;4885;4640	ENSP00000436812:T4941A;ENSP00000415793:T4944A	ENSP00000343037:T4885A	T	+	1	0	MUC5B	1229507	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.305000	0.08188	-1.153000	0.02829	-0.388000	0.06559	ACT		0.582	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		7	23	0	0	0	0	7	23				
FAR1	84188	broad.mit.edu	37	11	13736146	13736146	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:13736146A>G	ENST00000354817.3	+	9	1190	c.1046A>G	c.(1045-1047)tAt>tGt	p.Y349C	FAR1_ENST00000527202.1_3'UTR	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	349					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)|wax biosynthetic process (GO:0010025)	integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						CATCTTTTATATCATTACTGG	0.438																																						uc001mld.2		NA																	0				ovary(1)|skin(1)	2						c.(1045-1047)TAT>TGT		fatty acyl CoA reductase 1							69.0	66.0	67.0					11																	13736146		2200	4294	6494	SO:0001583	missense	84188				ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding	g.chr11:13736146A>G	AK026381	CCDS7813.1	11p15.2	2011-09-14	2008-06-06	2008-06-06	ENSG00000197601	ENSG00000197601	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	26222	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 1"""		"""male sterility domain containing 2"""	MLSTD2		15220348, 15220349, 19027726	Standard	NM_032228		Approved	FLJ22728, SDR10E1	uc001mld.3	Q8WVX9	OTTHUMG00000165743	ENST00000354817.3:c.1046A>G	11.37:g.13736146A>G	ENSP00000346874:p.Tyr349Cys						p.Y349C	NM_032228	NP_115604	Q8WVX9	FACR1_HUMAN			9	1201	+			349					D3DQW8|Q5CZA3	Missense_Mutation	SNP	ENST00000354817.3	37	c.1046A>G	CCDS7813.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.180184	0.38511	.	.	ENSG00000197601	ENST00000354817	T	0.24723	1.84	5.58	5.58	0.84498	.	0.239393	0.42420	D	0.000712	T	0.34135	0.0887	L	0.54323	1.7	0.80722	D	1	B	0.32101	0.356	B	0.40285	0.325	T	0.14643	-1.0465	10	0.66056	D	0.02	-5.4371	15.4074	0.74890	1.0:0.0:0.0:0.0	.	349	Q8WVX9	FACR1_HUMAN	C	349	ENSP00000346874:Y349C	ENSP00000346874:Y349C	Y	+	2	0	FAR1	13692722	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.130000	0.65690	0.477000	0.44152	TAT		0.438	FAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385990.2	NM_032228		9	29	0	0	0	0	9	29				
PLEKHA7	144100	broad.mit.edu	37	11	16816213	16816213	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:16816213G>C	ENST00000355661.3	-	19	2577	c.2567C>G	c.(2566-2568)tCa>tGa	p.S856*	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000332954.4_5'Flank|PLEKHA7_ENST00000531066.1_Nonsense_Mutation_p.S856*|PLEKHA7_ENST00000448080.2_Nonsense_Mutation_p.S856*			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	856	Pro-rich.				epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CTCAGAAGTTGAGAGTGAAGG	0.582																																						uc001mmo.2		NA																	0				skin(2)|central_nervous_system(1)	3						c.(2566-2568)TCA>TGA		pleckstrin homology domain containing, family A							60.0	64.0	62.0					11																	16816213		2200	4294	6494	SO:0001587	stop_gained	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16816213G>C	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.2567C>G	11.37:g.16816213G>C	ENSP00000347883:p.Ser856*					PLEKHA7_uc010rcu.1_Nonsense_Mutation_p.S856*|PLEKHA7_uc001mmm.2_5'Flank|PLEKHA7_uc010rcv.1_Nonsense_Mutation_p.S430*|PLEKHA7_uc001mmn.2_Nonsense_Mutation_p.S564*	p.S856*	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN			19	2582	-			856			Pro-rich.		B4DK33|B4DWC3|Q86VZ7	Nonsense_Mutation	SNP	ENST00000355661.3	37	c.2567C>G	CCDS31434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.658105|6.658105	0.97739|0.97739	.|.	.|.	ENSG00000166689|ENSG00000166689	ENST00000530489|ENST00000531066;ENST00000355661;ENST00000448080	.|.	.|.	.|.	5.6|5.6	3.71|3.71	0.42584|0.42584	.|.	.|0.896444	.|0.09721	.|N	.|0.764407	T|.	0.52451|.	0.1735|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.57585|.	-0.7786|.	3|.	.|0.35671	.|T	.|0.21	-0.6307|-0.6307	10.2269|10.2269	0.43231|0.43231	0.212:0.0:0.788:0.0|0.212:0.0:0.788:0.0	.|.	.|.	.|.	.|.	E|X	487|856	.|.	.|ENSP00000347883:S856X	Q|S	-|-	1|2	0|0	PLEKHA7|PLEKHA7	16772789|16772789	1.000000|1.000000	0.71417|0.71417	0.878000|0.878000	0.34440|0.34440	0.743000|0.743000	0.42351|0.42351	3.784000|3.784000	0.55416|0.55416	1.515000|1.515000	0.48885|0.48885	0.655000|0.655000	0.94253|0.94253	CAA|TCA		0.582	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		7	54	0	0	0	0	7	54				
OSBP	5007	broad.mit.edu	37	11	59376155	59376155	+	Missense_Mutation	SNP	C	C	G	rs568879919		TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:59376155C>G	ENST00000263847.1	-	3	1103	c.624G>C	c.(622-624)caG>caC	p.Q208H		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	208					lipid transport (GO:0006869)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	oxysterol binding (GO:0008142)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GAAGGGTATTCTGCAGCTCAG	0.468													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22751	0.0		0.0	False		,,,				2504	0.0					uc001noc.1		NA																	0				large_intestine(1)	1						c.(622-624)CAG>CAC		oxysterol binding protein							116.0	96.0	103.0					11																	59376155		2201	4295	6496	SO:0001583	missense	5007				lipid transport	Golgi membrane	oxysterol binding	g.chr11:59376155C>G	AF185696	CCDS7974.1	11q12-q13	2013-01-10			ENSG00000110048	ENSG00000110048		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8503	protein-coding gene	gene with protein product		167040					Standard	NM_002556		Approved	OSBP1	uc001noc.1	P22059	OTTHUMG00000167422	ENST00000263847.1:c.624G>C	11.37:g.59376155C>G	ENSP00000263847:p.Gln208His						p.Q208H	NM_002556	NP_002547	P22059	OSBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	3	1104	-		all_epithelial(135;0.000236)	208					Q6P524	Missense_Mutation	SNP	ENST00000263847.1	37	c.624G>C	CCDS7974.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.266726	0.23136	.	.	ENSG00000110048	ENST00000263847	T	0.46063	0.88	5.81	4.9	0.64082	.	0.173987	0.52532	D	0.000063	T	0.23611	0.0571	N	0.13371	0.34	0.53005	D	0.999964	B	0.18741	0.03	B	0.20184	0.028	T	0.07635	-1.0762	10	0.13853	T	0.58	-22.2358	9.4329	0.38622	0.1425:0.7851:0.0:0.0724	.	208	P22059	OSBP1_HUMAN	H	208	ENSP00000263847:Q208H	ENSP00000263847:Q208H	Q	-	3	2	OSBP	59132731	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.573000	0.36472	1.466000	0.48025	0.655000	0.94253	CAG		0.468	OSBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394555.1			7	66	0	0	0	0	7	66				
DDB1	1642	broad.mit.edu	37	11	61080987	61080987	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:61080987C>T	ENST00000301764.7	-	16	2450	c.2053G>A	c.(2053-2055)Gat>Aat	p.D685N	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'Flank	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	685	Interaction with CDT1.|WD repeat beta-propeller B; Interaction with CUL4A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GGATAGCCATCTGAATTGAGG	0.433								Nucleotide excision repair (NER)																														uc001nrc.3		NA																	0				ovary(2)|lung(1)|central_nervous_system(1)	4						c.(2053-2055)GAT>AAT	NER	damage-specific DNA binding protein 1							139.0	133.0	135.0					11																	61080987		2203	4299	6502	SO:0001583	missense	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61080987C>T	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.2053G>A	11.37:g.61080987C>T	ENSP00000301764:p.Asp685Asn					DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.D685N	p.D685N	NM_001923	NP_001914	Q16531	DDB1_HUMAN			16	2279	-			685			Interaction with CDT1.|Interaction with CUL4A.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	37	c.2053G>A	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508904	0.64410	.	.	ENSG00000167986	ENST00000301764;ENST00000535147	T;T	0.29142	1.58;1.58	5.63	5.63	0.86233	.	0.163305	0.56097	D	0.000035	T	0.31638	0.0803	L	0.39898	1.24	0.80722	D	1	B	0.14805	0.011	B	0.18561	0.022	T	0.04781	-1.0927	10	0.56958	D	0.05	-22.455	19.7096	0.96089	0.0:1.0:0.0:0.0	.	685	Q16531	DDB1_HUMAN	N	685;152	ENSP00000301764:D685N;ENSP00000444650:D152N	ENSP00000301764:D685N	D	-	1	0	DDB1	60837563	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	5.922000	0.70036	2.652000	0.90054	0.655000	0.94253	GAT		0.433	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		17	124	0	0	0	0	17	124				
CATSPER1	117144	broad.mit.edu	37	11	65793160	65793160	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:65793160G>A	ENST00000312106.5	-	1	828	c.691C>T	c.(691-693)Cat>Tat	p.H231Y		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	231	His-rich.				calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GCTTCATGATGACGGGACCTG	0.582																																						uc001ogt.2		NA																	0				ovary(2)	2						c.(691-693)CAT>TAT		sperm-associated cation channel 1							91.0	79.0	83.0					11																	65793160		2201	4296	6497	SO:0001583	missense	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65793160G>A	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.691C>T	11.37:g.65793160G>A	ENSP00000309052:p.His231Tyr						p.H231Y	NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN			1	829	-			231			His-rich.|Cytoplasmic (Potential).		Q96P76	Missense_Mutation	SNP	ENST00000312106.5	37	c.691C>T	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.322207	0.23994	.	.	ENSG00000175294	ENST00000312106	D	0.97850	-4.57	3.87	0.594	0.17485	.	1.064910	0.07494	N	0.906116	D	0.94601	0.8260	L	0.44542	1.39	0.09310	N	1	B	0.21821	0.061	B	0.14578	0.011	D	0.87496	0.2430	10	0.87932	D	0	-0.3584	4.2847	0.10850	0.0949:0.1537:0.5934:0.158	.	231	Q8NEC5	CTSR1_HUMAN	Y	231	ENSP00000309052:H231Y	ENSP00000309052:H231Y	H	-	1	0	CATSPER1	65549736	0.016000	0.18221	0.000000	0.03702	0.008000	0.06430	1.727000	0.38095	0.006000	0.14734	0.411000	0.27672	CAT		0.582	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		40	22	0	0	0	0	40	22				
PPFIA1	8500	broad.mit.edu	37	11	70202282	70202282	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:70202282C>T	ENST00000253925.7	+	19	2719	c.2504C>T	c.(2503-2505)aCg>aTg	p.T835M	AP000487.6_ENST00000528607.1_RNA|AP000487.4_ENST00000324630.5_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.T835M	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	835					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GTTTCCGAGACGGATAACTCA	0.403																																						uc001opo.2		NA																	0				lung(2)|ovary(1)	3						c.(2503-2505)ACG>ATG		PTPRF interacting protein alpha 1 isoform b							135.0	141.0	139.0					11																	70202282		2200	4294	6494	SO:0001583	missense	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70202282C>T	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.2504C>T	11.37:g.70202282C>T	ENSP00000253925:p.Thr835Met					PPFIA1_uc001opn.1_Missense_Mutation_p.T835M|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA	p.T835M	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		19	2702	+			835					A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	c.2504C>T	CCDS31627.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.211|8.211	0.800422|0.800422	0.16397|0.16397	.|.	.|.	ENSG00000131626|ENSG00000131626	ENST00000528750|ENST00000253925;ENST00000389547;ENST00000544950	.|T;T	.|0.18174	.|2.23;2.23	5.15|5.15	-0.0936|-0.0936	0.13648|0.13648	.|.	.|0.587842	.|0.16650	.|N	.|0.205245	T|T	0.09949|0.09949	0.0244|0.0244	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|B;B	.|0.24317	.|0.101;0.073	.|B;B	.|0.27796	.|0.083;0.025	T|T	0.24012|0.24012	-1.0172|-1.0172	5|10	.|0.52906	.|T	.|0.07	.|.	4.8636|4.8636	0.13596|0.13596	0.1336:0.5095:0.0:0.3568|0.1336:0.5095:0.0:0.3568	.|.	.|835;835	.|Q13136;Q13136-2	.|LIPA1_HUMAN;.	W|M	278|835;835;332	.|ENSP00000253925:T835M;ENSP00000374198:T835M	.|ENSP00000253925:T835M	R|T	+|+	1|2	2|0	PPFIA1|PPFIA1	69879930|69879930	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	0.151000|0.151000	0.16283|0.16283	0.014000|0.014000	0.14944|0.14944	-0.137000|-0.137000	0.14449|0.14449	CGG|ACG		0.403	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		10	914	0	0	0	0	10	914				
NADSYN1	55191	broad.mit.edu	37	11	71191849	71191849	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:71191849T>C	ENST00000319023.2	+	11	1110	c.922T>C	c.(922-924)Tcg>Ccg	p.S308P	NADSYN1_ENST00000526039.2_3'UTR|NADSYN1_ENST00000530055.1_5'UTR|NADSYN1_ENST00000539574.1_Missense_Mutation_p.S48P	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	308					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	CTTTGCCCTCTCGTGCCACGA	0.592																																					Ovarian(79;763 1781 6490 50276)	uc001oqn.2		NA																	0				ovary(2)	2						c.(922-924)TCG>CCG		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						90.0	73.0	79.0					11																	71191849		2200	4294	6494	SO:0001583	missense	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71191849T>C	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.922T>C	11.37:g.71191849T>C	ENSP00000326424:p.Ser308Pro					NADSYN1_uc001oqo.2_Missense_Mutation_p.S48P|NADSYN1_uc001oqp.2_5'UTR	p.S308P	NM_018161	NP_060631	Q6IA69	NADE_HUMAN			11	1048	+			308					B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	ENST00000319023.2	37	c.922T>C	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	T	18.56	3.651002	0.67472	.	.	ENSG00000172890	ENST00000319023;ENST00000539574	T;T	0.25414	2.43;1.8	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.54351	0.1853	M	0.91140	3.18	0.58432	D	0.999999	D;D	0.59767	0.983;0.986	P;P	0.62184	0.762;0.899	T	0.61535	-0.7043	10	0.35671	T	0.21	-17.1237	12.9823	0.58570	0.0:0.0:0.0:1.0	.	48;308	B3KUU4;Q6IA69	.;NADE_HUMAN	P	308;48	ENSP00000326424:S308P;ENSP00000443718:S48P	ENSP00000326424:S308P	S	+	1	0	NADSYN1	70869497	1.000000	0.71417	0.940000	0.37924	0.407000	0.30961	6.016000	0.70798	1.954000	0.56735	0.459000	0.35465	TCG		0.592	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161		7	300	0	0	0	0	7	300				
FAT3	120114	broad.mit.edu	37	11	92577879	92577879	+	Silent	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:92577879C>T	ENST00000298047.6	+	18	11363	c.11346C>T	c.(11344-11346)aaC>aaT	p.N3782N	FAT3_ENST00000409404.2_Silent_p.N3782N|FAT3_ENST00000525166.1_Silent_p.N3632N|FAT3_ENST00000533797.1_Silent_p.N117N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3782					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCTACAGGAACGTGCGTTGCA	0.512										TCGA Ovarian(4;0.039)																												uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(11344-11346)AAC>AAT		FAT tumor suppressor homolog 3							71.0	69.0	70.0					11																	92577879		2120	4241	6361	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92577879C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11346C>T	11.37:g.92577879C>T		TCGA Ovarian(4;0.039)				FAT3_uc001pdi.3_Silent_p.N222N	p.N3782N	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			18	11363	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3782			Extracellular (Potential).		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.11346C>T																																																																																					0.512	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		4	4	0	0	0	0	4	4				
PIWIL4	143689	broad.mit.edu	37	11	94349700	94349700	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:94349700T>C	ENST00000299001.6	+	16	2196	c.1985T>C	c.(1984-1986)gTt>gCt	p.V662A	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA|PIWIL4_ENST00000537419.1_5'Flank	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	662	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATGACTGATGTTGCAGATTGC	0.343																																						uc001pfa.2		NA																	0				skin(1)	1						c.(1984-1986)GTT>GCT		piwi-like 4							125.0	120.0	122.0					11																	94349700		2201	4298	6499	SO:0001583	missense	143689				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding	g.chr11:94349700T>C	AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"""Argonaute/PIWI family"""	18444	protein-coding gene	gene with protein product		610315	"""piwi-like 4 (Drosophila)"""			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.1985T>C	11.37:g.94349700T>C	ENSP00000299001:p.Val662Ala					PIWIL4_uc010rue.1_RNA|PIWIL4_uc009ywk.1_RNA	p.V662A	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN			16	2196	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	662			Piwi.		B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Missense_Mutation	SNP	ENST00000299001.6	37	c.1985T>C	CCDS31656.1	.	.	.	.	.	.	.	.	.	.	T	13.26	2.182815	0.38511	.	.	ENSG00000134627	ENST00000299001	T	0.32023	1.47	5.75	5.75	0.90469	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.759894	0.11904	N	0.518344	T	0.29321	0.0730	L	0.38175	1.15	0.80722	D	1	B	0.32893	0.389	B	0.36766	0.232	T	0.10497	-1.0627	10	0.87932	D	0	-3.68	10.0413	0.42160	0.0:0.0788:0.0:0.9212	.	662	Q7Z3Z4	PIWL4_HUMAN	A	662	ENSP00000299001:V662A	ENSP00000299001:V662A	V	+	2	0	PIWIL4	93989348	0.991000	0.36638	0.912000	0.35992	0.304000	0.27724	2.618000	0.46393	2.193000	0.70182	0.477000	0.44152	GTT		0.343	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1	NM_152431		14	34	0	0	0	0	14	34				
KBTBD3	143879	broad.mit.edu	37	11	105924371	105924371	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:105924371C>T	ENST00000526793.1	-	3	1204	c.1045G>A	c.(1045-1047)Ggt>Agt	p.G349S	KBTBD3_ENST00000531837.1_Missense_Mutation_p.G349S|KBTBD3_ENST00000534815.1_Missense_Mutation_p.G270S	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	345										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		CCTTTGCAACCACCTGTCAAG	0.423																																						uc001pja.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1045-1047)GGT>AGT		BTB and kelch domain containing 3							96.0	88.0	91.0					11																	105924371		2201	4297	6498	SO:0001583	missense	143879							g.chr11:105924371C>T	AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"""BTB/POZ domain containing"""	22934	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 3"""	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.1045G>A	11.37:g.105924371C>T	ENSP00000436262:p.Gly349Ser					KBTBD3_uc001pjb.2_Missense_Mutation_p.G349S|KBTBD3_uc009yxm.2_Missense_Mutation_p.G270S	p.G349S	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)	4	1685	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	345			Kelch 2.		Q6N066|Q86X38|Q96NK5	Missense_Mutation	SNP	ENST00000526793.1	37	c.1045G>A	CCDS8334.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268002	0.80469	.	.	ENSG00000182359	ENST00000534815;ENST00000526793;ENST00000531837	D;D;D	0.95622	-3.76;-3.76;-3.76	5.97	5.97	0.96955	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.95639	0.8582	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.96607	0.9449	10	0.87932	D	0	.	20.4135	0.99023	0.0:1.0:0.0:0.0	.	349;345	A8K1K0;Q8NAB2	.;KBTB3_HUMAN	S	270;349;349	ENSP00000431910:G270S;ENSP00000436262:G349S;ENSP00000432163:G349S	ENSP00000436262:G349S	G	-	1	0	KBTBD3	105429581	1.000000	0.71417	0.910000	0.35882	0.759000	0.43091	7.487000	0.81328	2.835000	0.97688	0.591000	0.81541	GGT		0.423	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388705.2	NM_152433		11	20	0	0	0	0	11	20				
SC5D	6309	broad.mit.edu	37	11	121174255	121174255	+	Silent	SNP	C	C	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:121174255C>G	ENST00000392789.2	+	2	408	c.171C>G	c.(169-171)gtC>gtG	p.V57V	SC5D_ENST00000534230.1_Silent_p.V57V|SC5D_ENST00000264027.4_Silent_p.V57V	NM_001024956.2	NP_001020127.1	O75845	SC5D_HUMAN	sterol-C5-desaturase	57					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via lathosterol (GO:0033490)|fatty acid biosynthetic process (GO:0006633)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	C-5 sterol desaturase activity (GO:0000248)|iron ion binding (GO:0005506)|lathosterol oxidase activity (GO:0050046)										ATTATTTTGTCTTCGATCATG	0.289																																						uc001pxu.2		NA																	0				ovary(1)	1						c.(169-171)GTC>GTG		sterol-C5-desaturase							160.0	156.0	158.0					11																	121174255		2203	4299	6502	SO:0001819	synonymous_variant	6309				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	C-5 sterol desaturase activity|iron ion binding|lathosterol oxidase activity	g.chr11:121174255C>G		CCDS8435.1	11q23.3	2013-03-04	2013-03-04	2013-03-04	ENSG00000109929	ENSG00000109929	1.14.21.6	"""Fatty acid hydroxylase domain containing"""	10547	protein-coding gene	gene with protein product	"""lathosterol oxidase"""	602286	"""sterol-C5-desaturase (fungal ERG3, delta-5-desaturase)-like"", ""sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, fungal)-like"", ""sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like"""	SC5DL		8976377	Standard	NM_006918		Approved		uc001pxu.3	O75845	OTTHUMG00000166068	ENST00000392789.2:c.171C>G	11.37:g.121174255C>G						SC5DL_uc001pxs.1_Silent_p.V57V|SC5DL_uc001pxt.2_Silent_p.V57V|SC5DL_uc001pxv.2_Silent_p.V57V	p.V57V	NM_006918	NP_008849	O75845	SC5D_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.0334)	BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.144)	2	319	+		Breast(109;0.00328)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	57					O00119|Q6GTM5|Q9UK15	Silent	SNP	ENST00000392789.2	37	c.171C>G	CCDS8435.1																																																																																				0.289	SC5D-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387702.1	NM_001024956		12	35	0	0	0	0	12	35				
ROBO4	54538	broad.mit.edu	37	11	124757312	124757312	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr11:124757312G>A	ENST00000306534.3	-	14	2625	c.2140C>T	c.(2140-2142)Ctc>Ttc	p.L714F	ROBO4_ENST00000533054.1_Missense_Mutation_p.L569F|RP11-664I21.5_ENST00000524453.1_RNA	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	714					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GCTGGAGGGAGATGACGAGTA	0.602																																						uc001qbg.2		NA																	0				ovary(1)|skin(1)	2						c.(2140-2142)CTC>TTC		roundabout homolog 4, magic roundabout							81.0	85.0	84.0					11																	124757312		2201	4299	6500	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124757312G>A	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.2140C>T	11.37:g.124757312G>A	ENSP00000304945:p.Leu714Phe					ROBO4_uc010sas.1_Missense_Mutation_p.L569F|ROBO4_uc001qbh.2_Missense_Mutation_p.L604F|ROBO4_uc001qbi.2_Missense_Mutation_p.L272F	p.L714F	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	14	2280	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	714					A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.2140C>T	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.172277	0.38315	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.69040	-0.37;-0.0	5.15	4.24	0.50183	.	0.000000	0.29073	N	0.013229	T	0.78091	0.4229	M	0.69823	2.125	0.29800	N	0.832559	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.80764	0.976;0.994;0.986	T	0.74595	-0.3613	10	0.54805	T	0.06	.	9.6995	0.40178	0.0967:0.0:0.9033:0.0	.	714;604;714	Q8WZ75-2;Q8WZ75-3;Q8WZ75	.;.;ROBO4_HUMAN	F	714;604;569	ENSP00000304945:L714F;ENSP00000437129:L569F	ENSP00000304945:L714F	L	-	1	0	ROBO4	124262522	1.000000	0.71417	0.991000	0.47740	0.110000	0.19582	2.331000	0.43894	1.195000	0.43115	0.558000	0.71614	CTC		0.602	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		17	49	0	0	0	0	17	49				
ADAMTS20	80070	broad.mit.edu	37	12	43822440	43822440	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:43822440G>T	ENST00000389420.3	-	25	3651	c.3652C>A	c.(3652-3654)Ccc>Acc	p.P1218T	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P1218T|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.P336T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1218	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATACTTACGGGTGACCAATCC	0.333																																						uc010skx.1		NA																	0				central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(3652-3654)CCC>ACC		a disintegrin-like and metalloprotease with							39.0	36.0	37.0					12																	43822440		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43822440G>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3652C>A	12.37:g.43822440G>T	ENSP00000374071:p.Pro1218Thr					ADAMTS20_uc001rno.1_Missense_Mutation_p.P336T|ADAMTS20_uc001rnp.1_Missense_Mutation_p.P372T	p.P1218T	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	25	3652	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1218			TSP type-1 8.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.3652C>A	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250016	0.59212	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.2	5.2	0.72013	.	0.000000	0.50627	D	0.000111	T	0.74099	0.3672	M	0.64260	1.97	0.58432	D	0.999998	P;D	0.89917	0.771;1.0	P;D	0.77557	0.574;0.99	T	0.70472	-0.4862	10	0.35671	T	0.21	.	19.6348	0.95726	0.0:0.0:1.0:0.0	.	1218;336	P59510;E9PBD5	ATS20_HUMAN;.	T	1218;348;336;1218;1218	ENSP00000374071:P1218T;ENSP00000447427:P348T;ENSP00000378911:P336T;ENSP00000448341:P1218T	ENSP00000374068:P1218T	P	-	1	0	ADAMTS20	42108707	0.986000	0.35501	1.000000	0.80357	0.918000	0.54935	1.872000	0.39549	2.803000	0.96430	0.585000	0.79938	CCC		0.333	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		4	12	1	0	0.00909568	0.00937678	4	12				
AAAS	8086	broad.mit.edu	37	12	53708119	53708119	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:53708119G>A	ENST00000209873.4	-	7	817	c.652C>T	c.(652-654)Ctt>Ttt	p.L218F	AAAS_ENST00000549983.1_5'UTR|AAAS_ENST00000550286.1_Missense_Mutation_p.L94F|AAAS_ENST00000394384.3_Missense_Mutation_p.L185F	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	218					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						GTCCAGATAAGAATGCAGCTC	0.587																																						uc001scr.3		NA																	0				ovary(1)	1						c.(652-654)CTT>TTT		achalasia, adrenocortical insufficiency,							135.0	127.0	130.0					12																	53708119		2203	4300	6503	SO:0001583	missense	8086				carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore		g.chr12:53708119G>A	AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"""WD repeat domain containing"""	13666	protein-coding gene	gene with protein product	"""aladin"", ""Allgrove, triple-A"""	605378	"""achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"""			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.652C>T	12.37:g.53708119G>A	ENSP00000209873:p.Leu218Phe					AAAS_uc001scs.3_Missense_Mutation_p.L185F	p.L218F	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN			7	815	-			218			WD 2.		Q5JB47|Q9NWI6|Q9UG19	Missense_Mutation	SNP	ENST00000209873.4	37	c.652C>T	CCDS8856.1	.	.	.	.	.	.	.	.	.	.	G	33	5.259939	0.95368	.	.	ENSG00000094914	ENST00000209873;ENST00000394384;ENST00000550286;ENST00000547757	D;D;D;T	0.95918	-3.76;-3.85;-3.76;-0.03	5.16	5.16	0.70880	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.97241	0.9098	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.989;0.997	D	0.96501	0.9371	10	0.42905	T	0.14	-25.5511	16.5538	0.84479	0.0:0.0:1.0:0.0	.	185;218	Q5JB47;Q9NRG9	.;AAAS_HUMAN	F	218;185;94;185	ENSP00000209873:L218F;ENSP00000377908:L185F;ENSP00000446885:L94F;ENSP00000448020:L185F	ENSP00000209873:L218F	L	-	1	0	AAAS	51994386	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.875000	0.69660	2.859000	0.98148	0.591000	0.81541	CTT		0.587	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405632.1			21	119	0	0	0	0	21	119				
TRHDE	29953	broad.mit.edu	37	12	73012775	73012775	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:73012775T>C	ENST00000261180.4	+	13	2387	c.2291T>C	c.(2290-2292)cTa>cCa	p.L764P		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	764					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CTTTATCCTCTAGATAAATTA	0.353																																						uc001sxa.2		NA																	0				ovary(2)|skin(1)	3						c.(2290-2292)CTA>CCA		thyrotropin-releasing hormone degrading enzyme							49.0	53.0	52.0					12																	73012775		2202	4300	6502	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:73012775T>C	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2291T>C	12.37:g.73012775T>C	ENSP00000261180:p.Leu764Pro						p.L764P	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			13	2321	+			764			Extracellular (Potential).		A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.2291T>C	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	T	19.01	3.743592	0.69418	.	.	ENSG00000072657	ENST00000261180	T	0.07908	3.15	5.77	4.61	0.57282	.	0.000000	0.64402	D	0.000001	T	0.30070	0.0753	M	0.83223	2.63	0.80722	D	1	D	0.71674	0.998	D	0.71184	0.972	T	0.05852	-1.0860	10	0.87932	D	0	.	12.6445	0.56728	0.1239:0.0:0.0:0.8761	.	764	Q9UKU6	TRHDE_HUMAN	P	764	ENSP00000261180:L764P	ENSP00000261180:L764P	L	+	2	0	TRHDE	71299042	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	5.625000	0.67770	1.077000	0.40990	0.533000	0.62120	CTA		0.353	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		9	45	0	0	0	0	9	45				
TRHDE	29953	broad.mit.edu	37	12	73015465	73015465	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:73015465G>T	ENST00000261180.4	+	15	2570	c.2474G>T	c.(2473-2475)gGc>gTc	p.G825V		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	825					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TGCAGTTTTGGCAACAAGCAC	0.373																																						uc001sxa.2		NA																	0				ovary(2)|skin(1)	3						c.(2473-2475)GGC>GTC		thyrotropin-releasing hormone degrading enzyme							89.0	81.0	84.0					12																	73015465		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:73015465G>T	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2474G>T	12.37:g.73015465G>T	ENSP00000261180:p.Gly825Val						p.G825V	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			15	2504	+			825			Extracellular (Potential).		A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.2474G>T	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897161	0.91962	.	.	ENSG00000072657	ENST00000261180	T	0.06849	3.25	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.39627	0.1085	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.42599	-0.9442	10	0.87932	D	0	.	19.9261	0.97102	0.0:0.0:1.0:0.0	.	825	Q9UKU6	TRHDE_HUMAN	V	825	ENSP00000261180:G825V	ENSP00000261180:G825V	G	+	2	0	TRHDE	71301732	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.420000	0.97426	2.789000	0.95967	0.655000	0.94253	GGC		0.373	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		6	24	1	0	0.00198382	0.00207723	6	24				
TMCC3	57458	broad.mit.edu	37	12	94965347	94965347	+	Missense_Mutation	SNP	G	G	A	rs149413079	byFrequency	TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:94965347G>A	ENST00000261226.4	-	4	1429	c.1298C>T	c.(1297-1299)gCg>gTg	p.A433V	TMCC3_ENST00000551457.1_Missense_Mutation_p.A402V	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	433						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						GACGAACTTCGCGATGGTGGA	0.488													G|||	3	0.000599042	0.0	0.0014	5008	,	,		21812	0.0		0.002	False		,,,				2504	0.0					uc001tdj.2		NA																	0				ovary(1)|skin(1)	2						c.(1297-1299)GCG>GTG		transmembrane and coiled-coil domain family 3		G	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	229.0	210.0	217.0		1298	5.3	1.0	12	dbSNP_134	217	14,8586	11.2+/-40.8	0,14,4286	yes	missense	TMCC3	NM_020698.2	64	0,16,6487	AA,AG,GG		0.1628,0.0454,0.123	probably-damaging	433/478	94965347	16,12990	2203	4300	6503	SO:0001583	missense	57458					integral to membrane		g.chr12:94965347G>A	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.1298C>T	12.37:g.94965347G>A	ENSP00000261226:p.Ala433Val					TMCC3_uc001tdi.2_Missense_Mutation_p.A402V	p.A433V	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN			4	1416	-			433			Helical; (Potential).		Q8IWB2	Missense_Mutation	SNP	ENST00000261226.4	37	c.1298C>T	CCDS31877.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	G	32	5.188353	0.94923	4.54E-4	0.001628	ENSG00000057704	ENST00000261226;ENST00000551457	T;T	0.52526	0.66;0.66	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.72070	0.3415	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.70016	0.967	T	0.75717	-0.3220	10	0.59425	D	0.04	-27.4814	19.0192	0.92906	0.0:0.0:1.0:0.0	.	433	Q9ULS5	TMCC3_HUMAN	V	433;402	ENSP00000261226:A433V;ENSP00000449888:A402V	ENSP00000261226:A433V	A	-	2	0	TMCC3	93489478	1.000000	0.71417	0.996000	0.52242	0.842000	0.47809	9.789000	0.99068	2.495000	0.84180	0.561000	0.74099	GCG		0.488	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		21	77	0	0	0	0	21	77				
C12orf42	374470	broad.mit.edu	37	12	103695998	103695998	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:103695998G>T	ENST00000378113.2	-	6	1196	c.971C>A	c.(970-972)tCc>tAc	p.S324Y	C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548883.1_Missense_Mutation_p.S324Y|C12orf42_ENST00000548048.1_Missense_Mutation_p.S257Y	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	324										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						TAACCTCTTGGAGGGGAAATG	0.622																																						uc001tjt.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(970-972)TCC>TAC		hypothetical protein LOC374470							36.0	43.0	40.0					12																	103695998		1896	4107	6003	SO:0001583	missense	374470							g.chr12:103695998G>T	AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.971C>A	12.37:g.103695998G>T	ENSP00000367353:p.Ser324Tyr					C12orf42_uc001tjs.2_Intron|C12orf42_uc009zuf.1_Missense_Mutation_p.S324Y|C12orf42_uc001tju.2_Missense_Mutation_p.S229Y	p.S324Y	NM_198521	NP_940923	Q96LP6	CL042_HUMAN			6	1059	-			324					Q49A64|Q4G0S2	Missense_Mutation	SNP	ENST00000378113.2	37	c.971C>A	CCDS44963.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.467974	0.63625	.	.	ENSG00000179088	ENST00000548883;ENST00000548048;ENST00000378113	T;T;T	0.59083	0.29;0.29;0.29	4.58	3.67	0.42095	.	0.232045	0.22393	N	0.060660	T	0.65154	0.2664	L	0.34521	1.04	0.30659	N	0.754561	D	0.89917	1.0	D	0.69479	0.964	T	0.68708	-0.5337	10	0.87932	D	0	-7.4848	14.5042	0.67741	0.0:0.148:0.852:0.0	.	324	Q96LP6	CL042_HUMAN	Y	324;257;324	ENSP00000447908:S324Y;ENSP00000449362:S257Y;ENSP00000367353:S324Y	ENSP00000367353:S324Y	S	-	2	0	C12orf42	102220128	1.000000	0.71417	0.219000	0.23793	0.884000	0.51177	4.665000	0.61547	0.875000	0.35847	0.655000	0.94253	TCC		0.622	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406754.1	NM_198521		22	54	1	0	2.89e-11	3.33e-11	22	54				
APPL2	55198	broad.mit.edu	37	12	105591721	105591721	+	Missense_Mutation	SNP	G	G	C	rs558229210	byFrequency	TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:105591721G>C	ENST00000258530.3	-	11	1099	c.874C>G	c.(874-876)Ctg>Gtg	p.L292V	APPL2_ENST00000539978.2_Missense_Mutation_p.L249V|APPL2_ENST00000551662.1_Missense_Mutation_p.L298V|APPL2_ENST00000549573.1_Intron	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GTGGTGACCAGCCCTGTTTTG	0.542																																						uc001tlf.1		NA																	0				upper_aerodigestive_tract(1)	1						c.(874-876)CTG>GTG		adaptor protein, phosphotyrosine interaction, PH							76.0	77.0	76.0					12																	105591721		2203	4300	6503	SO:0001583	missense	55198				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	g.chr12:105591721G>C	AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"""Pleckstrin homology (PH) domain containing"""	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.874C>G	12.37:g.105591721G>C	ENSP00000258530:p.Leu292Val					APPL2_uc010swt.1_Missense_Mutation_p.L249V|APPL2_uc001tlg.1_Missense_Mutation_p.L46V|APPL2_uc010swu.1_Missense_Mutation_p.L298V|APPL2_uc009zuq.2_Missense_Mutation_p.L249V	p.L292V	NM_018171	NP_060641	Q8NEU8	DP13B_HUMAN			11	1092	-			292			Required for RAB5A binding (By similarity).|PH.		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000258530.3	37	c.874C>G	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102873	0.76983	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662	T;T;T	0.75589	-0.95;-0.95;-0.95	5.39	4.5	0.54988	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	D	0.000001	D	0.84615	0.5511	M	0.72118	2.19	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.91635	0.998;0.999;0.996	D	0.85588	0.1244	10	0.54805	T	0.06	-15.251	14.2645	0.66107	0.0716:0.0:0.9284:0.0	.	298;249;292	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	V	292;249;298	ENSP00000258530:L292V;ENSP00000444472:L249V;ENSP00000446917:L298V	ENSP00000258530:L292V	L	-	1	2	APPL2	104115851	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.856000	0.62932	1.273000	0.44346	0.563000	0.77884	CTG		0.542	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	NM_018171		5	27	0	0	0	0	5	27				
PRDM4	11108	broad.mit.edu	37	12	108145684	108145684	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:108145684C>T	ENST00000228437.5	-	5	1093	c.634G>A	c.(634-636)Gag>Aag	p.E212K	PRDM4_ENST00000547268.1_5'Flank|RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	212					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						ATCGTAAGCTCCTCTGCCATT	0.512																																						uc001tmp.2		NA																	0				breast(1)|skin(1)	2						c.(634-636)GAG>AAG		PR domain containing 4							151.0	134.0	140.0					12																	108145684		2203	4300	6503	SO:0001583	missense	11108				cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr12:108145684C>T	AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"""Zinc fingers, C2H2-type"""	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.634G>A	12.37:g.108145684C>T	ENSP00000228437:p.Glu212Lys					PRDM4_uc001tmq.2_RNA	p.E212K	NM_012406	NP_036538	Q9UKN5	PRDM4_HUMAN			5	1071	-			212					Q9UFA6	Missense_Mutation	SNP	ENST00000228437.5	37	c.634G>A	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	C	33	5.199546	0.94997	.	.	ENSG00000110851	ENST00000228437	T	0.13657	2.57	5.93	5.93	0.95920	.	0.119133	0.64402	D	0.000017	T	0.15609	0.0376	N	0.24115	0.695	0.80722	D	1	P	0.46987	0.888	P	0.44561	0.453	T	0.00731	-1.1590	10	0.87932	D	0	.	20.3368	0.98748	0.0:1.0:0.0:0.0	.	212	Q9UKN5	PRDM4_HUMAN	K	212	ENSP00000228437:E212K	ENSP00000228437:E212K	E	-	1	0	PRDM4	106669814	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.103000	0.77014	2.805000	0.96524	0.655000	0.94253	GAG		0.512	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	NM_012406		8	89	0	0	0	0	8	89				
TMEM119	338773	broad.mit.edu	37	12	108985942	108985942	+	Missense_Mutation	SNP	G	G	A	rs373103416		TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:108985942G>A	ENST00000392806.3	-	2	386	c.218C>T	c.(217-219)aCc>aTc	p.T73I		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	73					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						GCCCCCCAGGGTTATGGGCTG	0.677																																						uc001tng.2		NA																	0				ovary(1)	1						c.(217-219)ACC>ATC		transmembrane protein 119 precursor							45.0	51.0	49.0					12																	108985942		2203	4300	6503	SO:0001583	missense	338773					integral to membrane		g.chr12:108985942G>A	AK075501	CCDS9119.1	12q23.3	2014-02-12				ENSG00000183160			27884	protein-coding gene	gene with protein product						12975309	Standard	NM_181724		Approved		uc001tng.3	Q4V9L6		ENST00000392806.3:c.218C>T	12.37:g.108985942G>A	ENSP00000376553:p.Thr73Ile					TMEM119_uc001tnf.2_RNA	p.T73I	NM_181724	NP_859075	Q4V9L6	TM119_HUMAN			2	381	-			73			Extracellular (Potential).		Q6UXE5|Q8N2F5	Missense_Mutation	SNP	ENST00000392806.3	37	c.218C>T	CCDS9119.1	.	.	.	.	.	.	.	.	.	.	G	1.254	-0.617702	0.03663	.	.	ENSG00000183160	ENST00000392806;ENST00000433191;ENST00000549031	T;T	0.47177	0.85;0.85	4.59	-2.21	0.06973	.	0.389254	0.26000	N	0.026956	T	0.19604	0.0471	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.04347	-1.0958	10	0.49607	T	0.09	2.0898	2.7272	0.05217	0.2946:0.1098:0.4739:0.1217	.	73	Q4V9L6	TM119_HUMAN	I	73;7;73	ENSP00000376553:T73I;ENSP00000448583:T73I	ENSP00000376553:T73I	T	-	2	0	TMEM119	107510071	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.135000	0.10420	-1.187000	0.02709	-2.095000	0.00367	ACC		0.677	TMEM119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403900.1	NM_181724		14	55	0	0	0	0	14	55				
ANAPC7	51434	broad.mit.edu	37	12	110834183	110834183	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:110834183T>C	ENST00000455511.3	-	2	278	c.278A>G	c.(277-279)tAt>tGt	p.Y93C	RP11-478C19.2_ENST00000550231.1_RNA|ANAPC7_ENST00000450008.2_Missense_Mutation_p.Y93C	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	93					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						AGCATTCCGATATTCCTTATC	0.383																																						uc001tqo.2		NA																	0					0						c.(277-279)TAT>TGT		anaphase-promoting complex subunit 7 isoform a							102.0	85.0	91.0					12																	110834183		2203	4300	6503	SO:0001583	missense	51434				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding	g.chr12:110834183T>C	AF191340	CCDS9145.2, CCDS44971.1	12q13.12	2013-01-10			ENSG00000196510	ENSG00000196510		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	17380	protein-coding gene	gene with protein product		606949					Standard	NM_016238		Approved	APC7	uc001tqo.2	Q9UJX3	OTTHUMG00000157009	ENST00000455511.3:c.278A>G	12.37:g.110834183T>C	ENSP00000394394:p.Tyr93Cys					ANAPC7_uc001tqp.3_Missense_Mutation_p.Y93C	p.Y93C	NM_016238	NP_057322	Q9UJX3	APC7_HUMAN			2	279	-			93			TPR 1.		Q96AC4|Q96GF4|Q9BU24|Q9NT16	Missense_Mutation	SNP	ENST00000455511.3	37	c.278A>G	CCDS9145.2	.	.	.	.	.	.	.	.	.	.	T	24.2	4.501716	0.85176	.	.	ENSG00000196510	ENST00000455511;ENST00000450008	T;T	0.79033	0.77;-1.23	5.85	5.85	0.93711	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.86285	0.5896	L	0.58810	1.83	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.91635	0.999;0.888	D	0.87501	0.2433	10	0.87932	D	0	-1.4204	16.2421	0.82418	0.0:0.0:0.0:1.0	.	93;93	Q9UJX3-2;Q9UJX3	.;APC7_HUMAN	C	93	ENSP00000394394:Y93C;ENSP00000402314:Y93C	ENSP00000402314:Y93C	Y	-	2	0	ANAPC7	109318566	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.587000	0.82613	2.234000	0.73211	0.533000	0.62120	TAT		0.383	ANAPC7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347075.3	NM_016238		15	22	0	0	0	0	15	22				
VPS29	51699	broad.mit.edu	37	12	110929916	110929916	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:110929916G>A	ENST00000549578.1	-	4	508	c.443C>T	c.(442-444)cCa>cTa	p.P148L	VPS29_ENST00000549970.1_Missense_Mutation_p.P53L|VPS29_ENST00000552130.2_Missense_Mutation_p.P53L|VPS29_ENST00000360579.7_Missense_Mutation_p.P152L|VPS29_ENST00000447578.2_Missense_Mutation_p.P53L|VPS29_ENST00000546588.1_Missense_Mutation_p.P180L	NM_016226.3	NP_057310.1	Q9UBQ0	VPS29_HUMAN	vacuolar protein sorting 29 homolog (S. cerevisiae)	148					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphoserine phosphatase activity (GO:0004647)			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						CACAAATGATGGAATAATGTT	0.328																																						uc001tqy.2		NA																	0					0						c.(442-444)CCA>CTA		vacuolar protein sorting 29 isoform 1							112.0	96.0	101.0					12																	110929916		1844	4100	5944	SO:0001583	missense	51699				protein transport	endosome membrane	metal ion binding|phosphoserine phosphatase activity	g.chr12:110929916G>A	AF193795	CCDS41832.1, CCDS53832.1, CCDS73525.1	12q24	2006-12-19	2006-12-19			ENSG00000111237			14340	protein-coding gene	gene with protein product		606932	"""vacuolar protein sorting 29 (yeast homolog)"", ""vacuolar protein sorting 29 (yeast)"""			11062004	Standard	NM_001282151		Approved	PEP11, DC7, DC15	uc001tqx.3	Q9UBQ0	OTTHUMG00000169527	ENST00000549578.1:c.443C>T	12.37:g.110929916G>A	ENSP00000447058:p.Pro148Leu					VPS29_uc001tqw.2_RNA|VPS29_uc001tqx.2_Missense_Mutation_p.P152L|VPS29_uc001tqz.2_RNA	p.P148L	NM_016226	NP_057310	Q9UBQ0	VPS29_HUMAN			4	503	-			148					Q502Y5|Q6FIF8|Q6IAH3|Q9H0W0|Q9NRP1|Q9NRU7	Missense_Mutation	SNP	ENST00000549578.1	37	c.443C>T	CCDS41832.1	.	.	.	.	.	.	.	.	.	.	G	31	5.096096	0.94197	.	.	ENSG00000111237	ENST00000549578;ENST00000397678;ENST00000552130;ENST00000447578;ENST00000546588;ENST00000549970	T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27	6.07	6.07	0.98685	Calcineurin-like phosphoesterase superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.56455	0.1986	H	0.95437	3.67	0.80722	D	1	D;D	0.67145	0.989;0.996	D;D	0.65010	0.931;0.92	T	0.67492	-0.5657	10	0.62326	D	0.03	-21.0613	20.6439	0.99570	0.0:0.0:1.0:0.0	.	148;152	Q9UBQ0;Q9UBQ0-2	VPS29_HUMAN;.	L	148;152;53;53;180;53	ENSP00000447058:P148L;ENSP00000449954:P53L;ENSP00000400048:P53L;ENSP00000449044:P180L;ENSP00000447634:P53L	ENSP00000380795:P152L	P	-	2	0	VPS29	109414299	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.957000	0.87870	2.884000	0.98904	0.655000	0.94253	CCA		0.328	VPS29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404623.1			5	29	0	0	0	0	5	29				
KSR2	283455	broad.mit.edu	37	12	117909103	117909103	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:117909103C>T	ENST00000339824.5	-	18	3332	c.2605G>A	c.(2605-2607)Gcc>Acc	p.A869T	KSR2_ENST00000425217.1_Missense_Mutation_p.A840T|KSR2_ENST00000302438.5_3'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	869	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CATTCCCTGGCGTGGAGTTCA	0.502																																						uc001two.2		NA																	0				lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15						c.(2518-2520)GCC>ACC		kinase suppressor of ras 2							176.0	168.0	171.0					12																	117909103		2050	4188	6238	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117909103C>T	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.2605G>A	12.37:g.117909103C>T	ENSP00000339952:p.Ala869Thr						p.A840T	NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN			18	2573	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		869			Protein kinase.		A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.2518G>A		.	.	.	.	.	.	.	.	.	.	C	23.0	4.366639	0.82463	.	.	ENSG00000171435	ENST00000425217;ENST00000339824	D;D	0.86865	-2.18;-2.18	4.6	4.6	0.57074	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73273	0.3566	N	0.02011	-0.69	0.58432	D	0.999999	D	0.57257	0.979	B	0.43867	0.434	T	0.79205	-0.1899	10	0.33940	T	0.23	.	17.797	0.88575	0.0:1.0:0.0:0.0	.	869	Q6VAB6	KSR2_HUMAN	T	840;869	ENSP00000389715:A840T;ENSP00000339952:A869T	ENSP00000339952:A869T	A	-	1	0	KSR2	116393486	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.818000	0.86416	2.266000	0.75297	0.655000	0.94253	GCC		0.502	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		17	32	0	0	0	0	17	32				
C12orf43	64897	broad.mit.edu	37	12	121442193	121442193	+	Silent	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:121442193C>T	ENST00000288757.3	-	6	574	c.552G>A	c.(550-552)gaG>gaA	p.E184E	C12orf43_ENST00000445832.3_Silent_p.E154E|C12orf43_ENST00000537817.1_Silent_p.E185E|C12orf43_ENST00000539736.1_Silent_p.E174E|C12orf43_ENST00000366211.2_Silent_p.E143E|C12orf43_ENST00000536407.2_Intron	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	184										cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTGCCTCCTTCTCCACTGTTC	0.602																																						uc001tzh.1		NA																	0					0						c.(550-552)GAG>GAA		hypothetical protein LOC64897							124.0	140.0	135.0					12																	121442193		2203	4300	6503	SO:0001819	synonymous_variant	64897							g.chr12:121442193C>T	AK022510	CCDS66486.1, CCDS66487.1	12q24.31	2012-05-30			ENSG00000157895	ENSG00000157895			25719	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001286195		Approved	FLJ12448	uc001tzh.1	Q96C57	OTTHUMG00000169150	ENST00000288757.3:c.552G>A	12.37:g.121442193C>T						C12orf43_uc009zxa.1_Silent_p.E215E|C12orf43_uc010szo.1_Silent_p.E143E|C12orf43_uc010szp.1_Silent_p.E174E|C12orf43_uc001tzi.1_Silent_p.E185E	p.E184E	NM_022895	NP_075046	Q96C57	CL043_HUMAN			6	575	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		184					Q53HF0|Q9H9Z7	Silent	SNP	ENST00000288757.3	37	c.552G>A	CCDS9210.1	.	.	.	.	.	.	.	.	.	.	C	3.681	-0.065534	0.07273	.	.	ENSG00000157895	ENST00000546272	.	.	.	5.46	1.57	0.23409	.	.	.	.	.	T	0.21801	0.0525	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.21552	-1.0242	4	.	.	.	-1.3575	1.9374	0.03340	0.1412:0.4914:0.137:0.2304	.	.	.	.	K	138	.	.	R	-	2	0	C12orf43	119926576	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.330000	0.07925	0.273000	0.22049	0.655000	0.94253	AGA		0.602	C12orf43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022895		39	138	0	0	0	0	39	138				
UBC	7316	broad.mit.edu	37	12	125397265	125397265	+	Silent	SNP	T	T	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:125397265T>C	ENST00000536769.1	-	1	2629	c.1053A>G	c.(1051-1053)ggA>ggG	p.G351G	UBC_ENST00000536661.1_5'Flank|UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Silent_p.G351G|UBC_ENST00000546120.1_Silent_p.G275G|MIR5188_ENST00000583467.1_RNA			P0CG48	UBC_HUMAN	ubiquitin C	351	Ubiquitin-like 5. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CCAGCTGTTTTCCGGCAAAGA	0.527																																						uc001ugs.3		NA																	0				ovary(2)	2						c.(1051-1053)GGA>GGG		ubiquitin C							195.0	177.0	183.0					12																	125397265		2203	4300	6503	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397265T>C		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.1053A>G	12.37:g.125397265T>C						UBC_uc001ugr.2_Intron|UBC_uc001ugu.1_Silent_p.G351G|UBC_uc001ugt.2_Silent_p.G351G|UBC_uc001ugv.2_Intron|UBC_uc001ugw.2_Silent_p.G199G	p.G351G	NM_021009	NP_066289	P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	2	1501	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		351			Ubiquitin-like 5.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000536769.1	37	c.1053A>G	CCDS9260.1																																																																																				0.527	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		31	180	0	0	0	0	31	180				
UBC	7316	broad.mit.edu	37	12	125397268	125397268	+	Silent	SNP	G	G	A	rs145681180	byFrequency	TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr12:125397268G>A	ENST00000536769.1	-	1	2626	c.1050C>T	c.(1048-1050)gcC>gcT	p.A350A	UBC_ENST00000536661.1_5'Flank|UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Silent_p.A350A|UBC_ENST00000546120.1_Silent_p.A274A|MIR5188_ENST00000583467.1_RNA			P0CG48	UBC_HUMAN	ubiquitin C	350	Ubiquitin-like 5. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GCTGTTTTCCGGCAAAGATCA	0.522													g|||	5	0.000998403	0.003	0.0014	5008	,	,		29063	0.0		0.0	False		,,,				2504	0.0					uc001ugs.3		NA																	0				ovary(2)	2						c.(1048-1050)GCC>GCT		ubiquitin C		G		14,4392	21.2+/-45.6	1,12,2190	193.0	174.0	180.0		1050	-2.3	1.0	12	dbSNP_134	180	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	UBC	NM_021009.5		1,14,6488	AA,AG,GG		0.0233,0.3177,0.123		350/686	125397268	16,12990	2203	4300	6503	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397268G>A		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.1050C>T	12.37:g.125397268G>A						UBC_uc001ugr.2_Intron|UBC_uc001ugu.1_Silent_p.A350A|UBC_uc001ugt.2_Silent_p.A350A|UBC_uc001ugv.2_Intron|UBC_uc001ugw.2_Silent_p.A198A	p.A350A	NM_021009	NP_066289	P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	2	1498	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		350			Ubiquitin-like 5.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000536769.1	37	c.1050C>T	CCDS9260.1																																																																																				0.522	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		31	173	0	0	0	0	31	173				
FAM155A	728215	broad.mit.edu	37	13	108518304	108518304	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr13:108518304G>A	ENST00000375915.2	-	1	779	c.641C>T	c.(640-642)cCg>cTg	p.P214L		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	214						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GTTCCAGAGCGGAGTGGGATG	0.577																																						uc001vql.2		NA																	0				skin(1)	1						c.(640-642)CCG>CTG		family with sequence similarity 155, member A							79.0	90.0	86.0					13																	108518304		2203	4300	6503	SO:0001583	missense	728215					integral to membrane	binding	g.chr13:108518304G>A	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.641C>T	13.37:g.108518304G>A	ENSP00000365080:p.Pro214Leu						p.P214L	NM_001080396	NP_001073865	B1AL88	F155A_HUMAN			1	1157	-			214					B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.641C>T	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	G	6.360	0.434616	0.12045	.	.	ENSG00000204442	ENST00000375915	T	0.11604	2.76	5.76	5.76	0.90799	.	0.439588	0.23585	N	0.046603	T	0.07007	0.0178	N	0.19112	0.55	0.20196	N	0.999922	P	0.35774	0.519	B	0.24269	0.052	T	0.32877	-0.9890	10	0.44086	T	0.13	.	13.8742	0.63643	0.0:0.0:0.8478:0.1522	.	214	B1AL88	F155A_HUMAN	L	214	ENSP00000365080:P214L	ENSP00000365080:P214L	P	-	2	0	FAM155A	107316305	1.000000	0.71417	0.013000	0.15412	0.019000	0.09904	4.640000	0.61368	2.713000	0.92767	0.655000	0.94253	CCG		0.577	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		16	106	0	0	0	0	16	106				
RHOJ	57381	broad.mit.edu	37	14	63747788	63747788	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr14:63747788G>A	ENST00000316754.3	+	3	799	c.337G>A	c.(337-339)Gag>Aag	p.E113K	RHOJ_ENST00000555125.1_Missense_Mutation_p.E113K	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	113					actin cytoskeleton organization (GO:0030036)|GTP catabolic process (GO:0006184)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		CAATGTCCAGGAGGAATGGGT	0.557																																						uc001xgb.1		NA																	0					0						c.(337-339)GAG>AAG		ras homolog gene family, member J precursor							175.0	128.0	144.0					14																	63747788		2203	4300	6503	SO:0001583	missense	57381				actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity	g.chr14:63747788G>A	AK027351	CCDS9757.1	14q23.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000126785	ENSG00000126785			688	protein-coding gene	gene with protein product		607653	"""RAS-like, family 7, member B"", ""ras homolog gene family, member J"""	RASL7B, ARHJ		10967094	Standard	NM_020663		Approved	FLJ14445, TCL	uc001xgb.2	Q9H4E5	OTTHUMG00000140342	ENST00000316754.3:c.337G>A	14.37:g.63747788G>A	ENSP00000316729:p.Glu113Lys						p.E113K	NM_020663	NP_065714	Q9H4E5	RHOJ_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)	3	780	+			113					Q96KC1	Missense_Mutation	SNP	ENST00000316754.3	37	c.337G>A	CCDS9757.1	.	.	.	.	.	.	.	.	.	.	G	36	5.896288	0.97081	.	.	ENSG00000126785	ENST00000316754;ENST00000555125	T;T	0.69926	-0.44;-0.44	5.87	5.87	0.94306	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.74268	0.3694	L	0.35341	1.055	0.80722	D	1	D	0.61080	0.989	P	0.62089	0.898	T	0.74794	-0.3544	10	0.59425	D	0.04	.	20.2147	0.98293	0.0:0.0:1.0:0.0	.	113	Q9H4E5	RHOJ_HUMAN	K	113	ENSP00000316729:E113K;ENSP00000451643:E113K	ENSP00000316729:E113K	E	+	1	0	RHOJ	62817541	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.785000	0.95823	0.591000	0.81541	GAG		0.557	RHOJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276975.3			25	67	0	0	0	0	25	67				
RHOJ	57381	broad.mit.edu	37	14	63747813	63747813	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr14:63747813A>G	ENST00000316754.3	+	3	824	c.362A>G	c.(361-363)gAc>gGc	p.D121G	RHOJ_ENST00000555125.1_Missense_Mutation_p.D121G	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	121					actin cytoskeleton organization (GO:0030036)|GTP catabolic process (GO:0006184)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		GAGCTCAAGGACTGCATGCCT	0.537																																						uc001xgb.1		NA																	0					0						c.(361-363)GAC>GGC		ras homolog gene family, member J precursor							149.0	112.0	125.0					14																	63747813		2203	4300	6503	SO:0001583	missense	57381				actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity	g.chr14:63747813A>G	AK027351	CCDS9757.1	14q23.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000126785	ENSG00000126785			688	protein-coding gene	gene with protein product		607653	"""RAS-like, family 7, member B"", ""ras homolog gene family, member J"""	RASL7B, ARHJ		10967094	Standard	NM_020663		Approved	FLJ14445, TCL	uc001xgb.2	Q9H4E5	OTTHUMG00000140342	ENST00000316754.3:c.362A>G	14.37:g.63747813A>G	ENSP00000316729:p.Asp121Gly						p.D121G	NM_020663	NP_065714	Q9H4E5	RHOJ_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)	3	805	+			121					Q96KC1	Missense_Mutation	SNP	ENST00000316754.3	37	c.362A>G	CCDS9757.1	.	.	.	.	.	.	.	.	.	.	A	14.74	2.626437	0.46840	.	.	ENSG00000126785	ENST00000316754;ENST00000555125	T;T	0.77358	-1.09;-1.09	5.87	1.77	0.24775	Small GTP-binding protein domain (1);	0.577980	0.18747	N	0.132290	T	0.60104	0.2243	L	0.31664	0.95	0.32384	N	0.554155	B	0.02656	0.0	B	0.09377	0.004	T	0.57289	-0.7837	10	0.59425	D	0.04	.	1.7812	0.03032	0.4586:0.1222:0.2869:0.1323	.	121	Q9H4E5	RHOJ_HUMAN	G	121	ENSP00000316729:D121G;ENSP00000451643:D121G	ENSP00000316729:D121G	D	+	2	0	RHOJ	62817566	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.172000	0.31908	0.463000	0.27118	0.482000	0.46254	GAC		0.537	RHOJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276975.3			24	55	0	0	0	0	24	55				
SYNE2	23224	broad.mit.edu	37	14	64532170	64532170	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr14:64532170A>G	ENST00000344113.4	+	51	10445	c.10233A>G	c.(10231-10233)atA>atG	p.I3411M	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.I3411M|SYNE2_ENST00000555002.1_Missense_Mutation_p.I45M|SYNE2_ENST00000554584.1_Missense_Mutation_p.I3444M	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3411					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAAATCTTATATCAACCAAAG	0.353																																						uc001xgm.2		NA																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(10231-10233)ATA>ATG		spectrin repeat containing, nuclear envelope 2							73.0	67.0	69.0					14																	64532170		1864	4090	5954	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64532170A>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.10233A>G	14.37:g.64532170A>G	ENSP00000341781:p.Ile3411Met					SYNE2_uc001xgl.2_Missense_Mutation_p.I3411M|SYNE2_uc010apw.1_Missense_Mutation_p.I117M	p.I3411M	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	51	10463	+			3411			Cytoplasmic (Potential).|Potential.		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.10233A>G	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	7.731	0.699342	0.15106	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002	T;T;T;T	0.46451	1.35;0.87;1.35;4.22	5.61	-9.41	0.00613	.	2.860100	0.00728	N	0.000932	T	0.17408	0.0418	N	0.08118	0	0.18873	N	0.999987	B;B	0.09022	0.001;0.002	B;B	0.08055	0.001;0.003	T	0.08932	-1.0698	10	0.30078	T	0.28	.	3.3968	0.07308	0.1379:0.1455:0.41:0.3066	.	3411;3411	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	M	3411;3411;3444;3444;45	ENSP00000350719:I3411M;ENSP00000341781:I3411M;ENSP00000452570:I3444M;ENSP00000450831:I45M	ENSP00000261678:I3444M	I	+	3	3	SYNE2	63601923	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-2.808000	0.00756	-1.531000	0.01749	-0.263000	0.10527	ATA		0.353	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		24	22	0	0	0	0	24	22				
ACOT4	122970	broad.mit.edu	37	14	74061758	74061758	+	Silent	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr14:74061758A>G	ENST00000326303.4	+	3	920	c.666A>G	c.(664-666)aaA>aaG	p.K222K		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	222					acyl-CoA metabolic process (GO:0006637)|dicarboxylic acid catabolic process (GO:0043649)|dicarboxylic acid metabolic process (GO:0043648)|long-chain fatty acid metabolic process (GO:0001676)|saturated monocarboxylic acid metabolic process (GO:0032788)|short-chain fatty acid metabolic process (GO:0046459)|succinyl-CoA metabolic process (GO:0006104)|unsaturated monocarboxylic acid metabolic process (GO:0032789)|very long-chain fatty acid metabolic process (GO:0000038)	peroxisome (GO:0005777)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|succinyl-CoA hydrolase activity (GO:0004778)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		TCCAGGTAAAAGGCCCAGGCA	0.478																																						uc001xoo.2		NA																	0					0						c.(664-666)AAA>AAG		acyl-CoA thioesterase 4							94.0	103.0	100.0					14																	74061758		2203	4300	6503	SO:0001819	synonymous_variant	122970				acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity	g.chr14:74061758A>G	BC031799	CCDS9817.1	14q24.1	2011-02-16			ENSG00000177465	ENSG00000177465		"""Acyl CoA thioesterases"""	19748	protein-coding gene	gene with protein product		614314				16103133, 16940157	Standard	NM_152331		Approved	FLJ31235, PTE-Ib, PTE2B	uc001xoo.3	Q8N9L9	OTTHUMG00000169485	ENST00000326303.4:c.666A>G	14.37:g.74061758A>G							p.K222K	NM_152331	NP_689544	Q8N9L9	ACOT4_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00331)	3	920	+			222					Q17RF4|Q5BKT6|Q86TX0|Q86TX1|Q96N88	Silent	SNP	ENST00000326303.4	37	c.666A>G	CCDS9817.1																																																																																				0.478	ACOT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404298.2	NM_152331		3	181	0	0	0	0	3	181				
RMDN3	55177	broad.mit.edu	37	15	41029852	41029852	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr15:41029852C>T	ENST00000260385.6	-	9	2265	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	RMDN3_ENST00000338376.3_Missense_Mutation_p.E400K|RMDN3_ENST00000558560.1_5'Flank			Q96TC7	RMD3_HUMAN	regulator of microtubule dynamics 3	400					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)	integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											AGGGCATCTTCCACAGTGGCA	0.478																																						uc001zmo.1		NA																	0					0						c.(1198-1200)GAA>AAA		family with sequence similarity 82, member A2							64.0	65.0	64.0					15																	41029852		2203	4300	6503	SO:0001583	missense	55177				apoptosis|cell differentiation	integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole	protein binding	g.chr15:41029852C>T	AK001441	CCDS10063.1	15q15.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000137824	ENSG00000137824			25550	protein-coding gene	gene with protein product		611873	"""family with sequence similarity 82, member A2"""	FAM82C, FAM82A2		12975309	Standard	XM_005254531		Approved	FLJ10579, PTPIP51, RMD3	uc001zmp.1	Q96TC7	OTTHUMG00000130066	ENST00000260385.6:c.1198G>A	15.37:g.41029852C>T	ENSP00000260385:p.Glu400Lys					FAM82A2_uc001zmp.1_Missense_Mutation_p.E400K|FAM82A2_uc001zmq.1_Missense_Mutation_p.E400K	p.E400K	NM_018145	NP_060615	Q96TC7	RMD3_HUMAN			10	1342	-			400					A9UMZ9|B3KRR3|Q6ZWE9|Q96H23|Q96SD6|Q9H6G1|Q9NVQ6	Missense_Mutation	SNP	ENST00000260385.6	37	c.1198G>A	CCDS10063.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.722819	0.48728	.	.	ENSG00000137824	ENST00000260385;ENST00000338376;ENST00000426872	T;T	0.34275	1.37;1.37	5.3	2.37	0.29283	Tetratricopeptide-like helical (1);	0.412335	0.27715	N	0.018141	T	0.40119	0.1104	L	0.57536	1.79	0.28548	N	0.911741	B	0.18968	0.032	B	0.32022	0.139	T	0.41822	-0.9487	10	0.45353	T	0.12	-5.1611	15.6524	0.77108	0.0:0.4066:0.5934:0.0	.	400	Q96TC7	RMD3_HUMAN	K	400;400;337	ENSP00000260385:E400K;ENSP00000342493:E400K	ENSP00000260385:E400K	E	-	1	0	FAM82A2	38817144	0.814000	0.29104	0.990000	0.47175	0.837000	0.47467	1.294000	0.33365	0.213000	0.20722	-0.311000	0.09066	GAA		0.478	RMDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252357.1	NM_018145		5	76	0	0	0	0	5	76				
CASC4	113201	broad.mit.edu	37	15	44671915	44671915	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr15:44671915C>G	ENST00000345795.2	+	7	1100	c.830C>G	c.(829-831)tCt>tGt	p.S277C	CASC4_ENST00000299957.6_Missense_Mutation_p.S277C|CASC4_ENST00000360824.3_3'UTR	NM_177974.2	NP_816929.1	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	277						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		ATTTCAGTTTCTCAACATGAA	0.333																																						uc001zto.1		NA																	0				ovary(1)	1						c.(829-831)TCT>TGT		cancer susceptibility candidate 4 isoform a							133.0	140.0	138.0					15																	44671915		2198	4298	6496	SO:0001583	missense	113201					integral to membrane		g.chr15:44671915C>G	AF103804	CCDS10108.1, CCDS10109.1	15q15.1	2010-11-24			ENSG00000166734	ENSG00000166734			24892	protein-coding gene	gene with protein product						10497265	Standard	NM_138423		Approved	H63, DKFZp459F1927	uc001ztp.3	Q6P4E1	OTTHUMG00000131133	ENST00000345795.2:c.830C>G	15.37:g.44671915C>G	ENSP00000335063:p.Ser277Cys					CASC4_uc001ztp.2_Missense_Mutation_p.S277C|CASC4_uc001ztq.2_Missense_Mutation_p.S277C	p.S277C	NM_138423	NP_612432	Q6P4E1	CASC4_HUMAN		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)	7	1129	+		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)	277			Lumenal (Potential).		B4DPZ6|G5E934|Q6UY45|Q96EM1	Missense_Mutation	SNP	ENST00000345795.2	37	c.830C>G	CCDS10109.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.304870	0.60305	.	.	ENSG00000166734	ENST00000299957;ENST00000345795;ENST00000416522	D;D	0.84660	-1.88;-1.88	5.25	4.27	0.50696	.	0.303320	0.34435	N	0.003972	D	0.87426	0.6174	L	0.51422	1.61	0.80722	D	1	P;D;D	0.76494	0.904;0.996;0.999	P;P;P	0.61722	0.513;0.855;0.893	D	0.87198	0.2239	10	0.56958	D	0.05	.	10.3128	0.43718	0.1962:0.8038:0.0:0.0	.	277;277;277	Q6P4E1-2;G5E934;Q6P4E1	.;.;CASC4_HUMAN	C	277;277;256	ENSP00000299957:S277C;ENSP00000335063:S277C	ENSP00000299957:S277C	S	+	2	0	CASC4	42459207	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.744000	0.47450	2.461000	0.83175	0.655000	0.94253	TCT		0.333	CASC4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253816.1	NM_138423		67	76	0	0	0	0	67	76				
BLOC1S6	26258	broad.mit.edu	37	15	45884445	45884445	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr15:45884445G>C	ENST00000220531.3	+	2	516	c.195G>C	c.(193-195)caG>caC	p.Q65H	BLOC1S6_ENST00000564765.1_5'UTR|BLOC1S6_ENST00000567461.1_Intron|BLOC1S6_ENST00000568816.1_5'UTR|BLOC1S6_ENST00000562384.1_Intron|Y_RNA_ENST00000363549.1_RNA|RP11-96O20.4_ENST00000564080.1_Intron|BLOC1S6_ENST00000567740.1_Intron|BLOC1S6_ENST00000565409.1_5'UTR|BLOC1S6_ENST00000566753.1_Missense_Mutation_p.Q65H|BLOC1S6_ENST00000565323.1_Missense_Mutation_p.Q70H|BLOC1S6_ENST00000565216.1_Intron	NM_012388.2	NP_036520.1	Q9UL45	BL1S6_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 6, pallidin	65					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|blood coagulation (GO:0007596)|endosome to melanosome transport (GO:0035646)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of pigment cell differentiation (GO:0050942)|post-Golgi vesicle-mediated transport (GO:0006892)|secretion of lysosomal enzymes (GO:0033299)|synaptic vesicle docking involved in exocytosis (GO:0016081)	BLOC-1 complex (GO:0031083)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|transport vesicle (GO:0030133)	actin filament binding (GO:0051015)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)										CAGATCTGCAGAGATCAAAAC	0.398																																						uc001zvq.2		NA																	0				skin(1)	1						c.(193-195)CAG>CAC		pallidin							92.0	92.0	92.0					15																	45884445		2198	4298	6496	SO:0001583	missense	26258				post-Golgi vesicle-mediated transport|synaptic vesicle docking involved in exocytosis	BLOC-1 complex|endomembrane system|membrane	identical protein binding|syntaxin-13 binding	g.chr15:45884445G>C	AF080470	CCDS10126.1	15q21.1	2013-09-27	2012-08-07	2012-08-01	ENSG00000104164	ENSG00000104164		"""Biogenesis of lysosomal organelles complex-1 subunits"""	8549	protein-coding gene	gene with protein product		604310	"""pallid (mouse) homolog, pallidin"", ""pallidin homolog (mouse)"""	PA, PLDN		10610180	Standard	NM_012388		Approved	HPS9	uc001zvq.3	Q9UL45	OTTHUMG00000131477	ENST00000220531.3:c.195G>C	15.37:g.45884445G>C	ENSP00000220531:p.Gln65His					PLDN_uc001zvr.2_RNA|PLDN_uc001zvs.2_RNA	p.Q65H	NM_012388	NP_036520	Q9UL45	PLDN_HUMAN		all cancers(107;6.58e-18)|GBM - Glioblastoma multiforme(94;5.91e-07)	2	420	+		Lung NSC(122;1.6e-06)|all_lung(180;1.13e-05)|Melanoma(134;0.027)	65			Potential.			Missense_Mutation	SNP	ENST00000220531.3	37	c.195G>C	CCDS10126.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921704	0.73213	.	.	ENSG00000104164	ENST00000220531	.	.	.	5.74	5.74	0.90152	.	0.216570	0.49916	D	0.000129	T	0.74696	0.3750	M	0.70595	2.14	0.80722	D	1	D	0.57571	0.98	P	0.56700	0.804	T	0.75402	-0.3330	9	0.51188	T	0.08	-16.8579	17.4111	0.87486	0.0:0.0:1.0:0.0	.	65	Q9UL45	PLDN_HUMAN	H	65	.	ENSP00000220531:Q65H	Q	+	3	2	PLDN	43671737	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.436000	0.59948	2.707000	0.92482	0.563000	0.77884	CAG		0.398	BLOC1S6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254320.2	NM_012388		8	29	0	0	0	0	8	29				
UNC13C	440279	broad.mit.edu	37	15	54305645	54305645	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr15:54305645G>A	ENST00000260323.11	+	1	545	c.545G>A	c.(544-546)cGa>cAa	p.R182Q	UNC13C_ENST00000545554.1_Missense_Mutation_p.R182Q|UNC13C_ENST00000537900.1_Missense_Mutation_p.R182Q	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	182					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.R182Q(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGAGCTTTACGAAAACTGAGA	0.458																																						uc002ack.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(5)|pancreas(2)	7						c.(544-546)CGA>CAA		unc-13 homolog C							106.0	104.0	105.0					15																	54305645		1905	4106	6011	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54305645G>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.545G>A	15.37:g.54305645G>A	ENSP00000260323:p.Arg182Gln						p.R182Q	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	545	+			182					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.545G>A	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.750905	0.49257	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.82803	-1.65;-1.65;-1.65	4.98	4.07	0.47477	.	.	.	.	.	T	0.73969	0.3655	L	0.29908	0.895	0.35756	D	0.819809	B	0.20550	0.046	B	0.11329	0.006	T	0.74150	-0.3758	9	0.49607	T	0.09	.	12.2085	0.54365	0.0823:0.0:0.9177:0.0	.	182	Q8NB66	UN13C_HUMAN	Q	182	ENSP00000260323:R182Q;ENSP00000438156:R182Q;ENSP00000442569:R182Q	ENSP00000260323:R182Q	R	+	2	0	UNC13C	52092937	0.994000	0.37717	0.985000	0.45067	0.888000	0.51559	4.614000	0.61183	1.078000	0.41014	0.655000	0.94253	CGA		0.458	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		48	82	0	0	0	0	48	82				
VPS13C	54832	broad.mit.edu	37	15	62165518	62165518	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr15:62165518C>G	ENST00000261517.5	-	78	10578	c.10505G>C	c.(10504-10506)aGa>aCa	p.R3502T	VPS13C_ENST00000558919.1_5'Flank|VPS13C_ENST00000395898.3_Missense_Mutation_p.R3459T|VPS13C_ENST00000395896.4_Missense_Mutation_p.R3502T|VPS13C_ENST00000249837.3_Missense_Mutation_p.R3459T	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTCTTCTCTTCTTTTTTGCTG	0.453																																						uc002agz.2		NA																	0				ovary(2)	2						c.(10504-10506)AGA>ACA		vacuolar protein sorting 13C protein isoform 2A							223.0	214.0	217.0					15																	62165518		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62165518C>G	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.10505G>C	15.37:g.62165518C>G	ENSP00000261517:p.Arg3502Thr					VPS13C_uc002aha.2_Missense_Mutation_p.R3459T|VPS13C_uc002ahb.1_Missense_Mutation_p.R3502T|VPS13C_uc002ahc.1_Missense_Mutation_p.R3459T	p.R3502T	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			78	10579	-			3502						Missense_Mutation	SNP	ENST00000261517.5	37	c.10505G>C	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	34	5.374166	0.95923	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.61980	0.07;0.06;0.3	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.84817	0.5556	M	0.91818	3.245	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.86783	0.1980	10	0.87932	D	0	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	3459;3502;3459;3502	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	T	3459;3502;3502;3502	ENSP00000249837:R3459T;ENSP00000261517:R3502T;ENSP00000379233:R3502T	ENSP00000249837:R3459T	R	-	2	0	VPS13C	59952810	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.759000	0.85235	2.865000	0.98341	0.655000	0.94253	AGA		0.453	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		46	154	0	0	0	0	46	154				
DENND4A	10260	broad.mit.edu	37	15	65968902	65968902	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr15:65968902T>C	ENST00000431932.2	-	23	4326	c.4118A>G	c.(4117-4119)gAt>gGt	p.D1373G	DENND4A_ENST00000443035.3_Missense_Mutation_p.D1416G	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1373					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GACATCTTCATCTGTTAAAGA	0.423																																						uc002aph.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(4117-4119)GAT>GGT		DENN/MADD domain containing 4A isoform 2							91.0	85.0	87.0					15																	65968902		1870	4096	5966	SO:0001583	missense	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:65968902T>C	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.4118A>G	15.37:g.65968902T>C	ENSP00000396830:p.Asp1373Gly					DENND4A_uc002api.2_Missense_Mutation_p.D1416G	p.D1373G	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN			23	4496	-			1373					E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	c.4118A>G	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	T	11.22	1.573127	0.28092	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.05513	3.43;3.43	5.66	5.66	0.87406	.	1.595950	0.02861	N	0.130265	T	0.11239	0.0274	L	0.55481	1.735	0.58432	D	0.999991	B;B	0.13145	0.007;0.007	B;B	0.09377	0.004;0.004	T	0.55854	-0.8075	10	0.09590	T	0.72	.	15.9009	0.79377	0.0:0.0:0.0:1.0	.	1416;1373	E7EPL3;Q7Z401	.;MYCPP_HUMAN	G	1416;1373	ENSP00000391167:D1416G;ENSP00000396830:D1373G	ENSP00000396830:D1373G	D	-	2	0	DENND4A	63755956	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.165000	0.71891	2.173000	0.68751	0.533000	0.62120	GAT		0.423	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		7	31	0	0	0	0	7	31				
STARD5	80765	broad.mit.edu	37	15	81614833	81614833	+	Silent	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr15:81614833G>A	ENST00000302824.6	-	3	223	c.198C>T	c.(196-198)gaC>gaT	p.D66D	STARD5_ENST00000559913.1_5'UTR|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA	NM_181900.2	NP_871629.1	Q9NSY2	STAR5_HUMAN	StAR-related lipid transfer (START) domain containing 5	66	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				C21-steroid hormone biosynthetic process (GO:0006700)|lipid transport (GO:0006869)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)	lipid binding (GO:0008289)			large_intestine(3)|ovary(1)|skin(1)|stomach(1)	6						GCTTCACACAGTCCCACACCT	0.473																																						uc002bgm.2		NA																	0				ovary(1)	1						c.(196-198)GAC>GAT		StAR-related lipid transfer protein 5							175.0	134.0	148.0					15																	81614833		2203	4300	6503	SO:0001819	synonymous_variant	80765				C21-steroid hormone biosynthetic process|lipid transport	cytosol	lipid binding	g.chr15:81614833G>A	AF480304	CCDS10318.1	15q26	2011-09-12	2007-08-16		ENSG00000172345	ENSG00000172345		"""StAR-related lipid transfer (START) domain containing"""	18065	protein-coding gene	gene with protein product		607050	"""START domain containing 5"""			12011452	Standard	NM_181900		Approved	MGC10327	uc002bgm.3	Q9NSY2	OTTHUMG00000147342	ENST00000302824.6:c.198C>T	15.37:g.81614833G>A						STARD5_uc002bgn.2_5'UTR	p.D66D	NM_181900	NP_871629	Q9NSY2	STAR5_HUMAN			3	282	-			66			START.		P59094	Silent	SNP	ENST00000302824.6	37	c.198C>T	CCDS10318.1																																																																																				0.473	STARD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303950.2			19	75	0	0	0	0	19	75				
NAA60	79903	broad.mit.edu	37	16	3533528	3533528	+	Missense_Mutation	SNP	G	G	C	rs375529443	byFrequency	TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr16:3533528G>C	ENST00000407558.4	+	6	806	c.503G>C	c.(502-504)cGa>cCa	p.R168P	NAA60_ENST00000360862.5_Missense_Mutation_p.R103P|NAA60_ENST00000572942.1_Intron|NAA60_ENST00000570819.1_Intron|LA16c-306E5.3_ENST00000574423.2_RNA|NAA60_ENST00000608993.1_Missense_Mutation_p.R103P|NAA60_ENST00000424546.2_Missense_Mutation_p.R175P|NAA60_ENST00000575076.1_Missense_Mutation_p.R168P|NAA60_ENST00000576916.1_Intron|NAA60_ENST00000421765.3_Intron|NAA60_ENST00000573580.1_Missense_Mutation_p.R103P|NAA60_ENST00000414063.2_Missense_Mutation_p.R168P|NAA60_ENST00000570551.1_3'UTR|NAA60_ENST00000577013.1_Intron|NAA60_ENST00000610180.1_Missense_Mutation_p.R168P|NAA60_ENST00000572584.1_Missense_Mutation_p.R168P|NAA60_ENST00000608722.1_Missense_Mutation_p.R168P			Q9H7X0	NAA60_HUMAN	N(alpha)-acetyltransferase 60, NatF catalytic subunit	168	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|histone H4 acetylation (GO:0043967)|N-terminal peptidyl-methionine acetylation (GO:0017196)|nucleosome assembly (GO:0006334)	Golgi membrane (GO:0000139)	H4 histone acetyltransferase activity (GO:0010485)|peptide alpha-N-acetyltransferase activity (GO:0004596)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						TACTCCATTCGAGGGGTCCTC	0.478																																						uc002cvh.3		NA																	0					0						c.(502-504)CGA>CCA		N-acetyltransferase 15							134.0	138.0	137.0					16																	3533528		1986	4162	6148	SO:0001583	missense	79903						N-acetyltransferase activity	g.chr16:3533528G>C		CCDS45396.1	16p13.3	2012-07-13	2011-08-02	2011-08-02	ENSG00000122390	ENSG00000122390	2.3.1.48, 2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	25875	protein-coding gene	gene with protein product		614246	"""N-acetyltransferase 15 (GCN5-related, putative)"""	NAT15		12975309, 21750686	Standard	NM_001083600		Approved	FLJ14154	uc010btm.3	Q9H7X0	OTTHUMG00000150268	ENST00000407558.4:c.503G>C	16.37:g.3533528G>C	ENSP00000385903:p.Arg168Pro					NAT15_uc010uxb.1_Missense_Mutation_p.R175P|NAT15_uc010btk.1_Missense_Mutation_p.R103P|NAT15_uc010btl.2_Intron|NAT15_uc010btm.2_Missense_Mutation_p.R168P|NAT15_uc010uxc.1_Missense_Mutation_p.R168P|NAT15_uc010uxd.1_Intron|NAT15_uc010uxe.1_Intron|NAT15_uc002cvg.1_Missense_Mutation_p.R168P	p.R168P	NM_001083601	NP_001077070	Q9H7X0	NAT15_HUMAN			6	749	+			168			N-acetyltransferase.		B3KRQ0|B4DLZ0|B4DPZ8|B4DYC4|D3DUC2|E7EQ65|Q6IA31|Q6UX26	Missense_Mutation	SNP	ENST00000407558.4	37	c.503G>C	CCDS45396.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544281	0.45280	.	.	ENSG00000122390	ENST00000424546;ENST00000407558;ENST00000414063;ENST00000360862	T;T;T;T	0.50001	0.76;0.79;0.79;1.02	5.47	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.43678	0.1258	L	0.52126	1.63	0.80722	D	1	B;B	0.18610	0.014;0.029	B;B	0.15870	0.014;0.012	T	0.40757	-0.9546	10	0.62326	D	0.03	-14.8744	13.696	0.62580	0.0747:0.0:0.9253:0.0	.	175;168	B4DLZ0;Q9H7X0	.;NAA60_HUMAN	P	175;168;168;103	ENSP00000401237:R175P;ENSP00000385903:R168P;ENSP00000393224:R168P;ENSP00000354108:R103P	ENSP00000354108:R103P	R	+	2	0	NAA60	3473529	1.000000	0.71417	0.972000	0.41901	0.938000	0.57974	9.368000	0.97152	1.452000	0.47756	-0.258000	0.10820	CGA		0.478	NAA60-001	KNOWN	NMD_exception|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317235.2	NM_024845		5	70	0	0	0	0	5	70				
ACSM5	54988	broad.mit.edu	37	16	20442541	20442541	+	Splice_Site	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr16:20442541G>A	ENST00000331849.4	+	10	1353		c.e10-1			NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5						fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TTCCTTACCAGATTGTGGATG	0.552																																						uc002dhe.2		NA																	0				ovary(2)	2						c.e10-1		acyl-CoA synthetase medium-chain family member 5							133.0	117.0	122.0					16																	20442541		2203	4300	6503	SO:0001630	splice_region_variant	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20442541G>A		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1207-1G>A	16.37:g.20442541G>A							p.I403_splice	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN			10	1354	+								Q96AV1|Q96CX8|Q9NWV3	Splice_Site	SNP	ENST00000331849.4	37	c.1207_splice	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.490559	0.26686	.	.	ENSG00000183549	ENST00000331849	.	.	.	4.37	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0686	0.80907	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACSM5	20350042	1.000000	0.71417	0.979000	0.43373	0.188000	0.23474	7.352000	0.79404	2.119000	0.64992	0.650000	0.86243	.		0.552	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888	Intron	23	102	0	0	0	0	23	102				
PALB2	79728	broad.mit.edu	37	16	23641719	23641719	+	Missense_Mutation	SNP	C	C	T	rs587781954		TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr16:23641719C>T	ENST00000261584.4	-	5	1908	c.1756G>A	c.(1756-1758)Gat>Aat	p.D586N		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	586					DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		GTGAAAGCATCATCATCCAAG	0.368			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																														uc002dlx.1		NA	yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	F|N|Mis	partner and localizer of BRCA2			"""L, O, E"""		Wilms tumor|medulloblastoma|AML ,breast			0				lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1)	11						c.(1756-1758)GAT>AAT	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	partner and localizer of BRCA2							59.0	51.0	54.0					16																	23641719		2197	4300	6497	SO:0001583	missense	79728	Fanconi_Anemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of			double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	g.chr16:23641719C>T		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.1756G>A	16.37:g.23641719C>T	ENSP00000261584:p.Asp586Asn						p.D586N	NM_024675	NP_078951	Q86YC2	PALB2_HUMAN		GBM - Glioblastoma multiforme(48;0.0167)	5	1956	-			586					A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	37	c.1756G>A	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.183007	0.57800	.	.	ENSG00000083093	ENST00000261584	T	0.18174	2.23	5.89	1.93	0.25924	.	0.573388	0.16767	N	0.200358	T	0.13072	0.0317	L	0.57536	1.79	0.09310	N	1	B	0.27700	0.186	B	0.25759	0.063	T	0.23048	-1.0199	10	0.23302	T	0.38	-2.459	2.5974	0.04857	0.2134:0.457:0.0:0.3296	.	586	Q86YC2	PALB2_HUMAN	N	586	ENSP00000261584:D586N	ENSP00000261584:D586N	D	-	1	0	PALB2	23549220	0.000000	0.05858	0.004000	0.12327	0.090000	0.18270	0.136000	0.15974	0.554000	0.29061	0.655000	0.94253	GAT		0.368	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		7	24	0	0	0	0	7	24				
ZNF423	23090	broad.mit.edu	37	16	49764716	49764716	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr16:49764716G>C	ENST00000561648.1	-	3	296	c.243C>G	c.(241-243)gaC>gaG	p.D81E	ZNF423_ENST00000562520.1_Missense_Mutation_p.D21E|ZNF423_ENST00000562871.1_Missense_Mutation_p.D21E|ZNF423_ENST00000563137.2_Missense_Mutation_p.D21E|ZNF423_ENST00000262383.2_Missense_Mutation_p.D81E	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	81					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGTCCGTCAGGTCTGCCAGAG	0.517																																						uc002efs.2		NA																	0				ovary(1)|lung(1)|kidney(1)|pancreas(1)	4						c.(241-243)GAC>GAG		zinc finger protein 423							237.0	192.0	208.0					16																	49764716		2198	4300	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49764716G>C	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.243C>G	16.37:g.49764716G>C	ENSP00000455426:p.Asp81Glu						p.D81E	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			4	541	-		all_cancers(37;0.0155)	81			C2H2-type 1; degenerate.		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.243C>G	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279196	0.40294	.	.	ENSG00000102935	ENST00000262383	T	0.29655	1.56	5.15	4.18	0.49190	Zinc finger, C2H2-like (1);	0.142736	0.44483	N	0.000459	T	0.18341	0.0440	N	0.17082	0.46	0.32298	N	0.565393	B	0.24258	0.1	B	0.24974	0.057	T	0.18053	-1.0349	9	.	.	.	.	10.9864	0.47525	0.0:0.1405:0.7135:0.146	.	81	Q2M1K9	ZN423_HUMAN	E	81	ENSP00000262383:D81E	.	D	-	3	2	ZNF423	48322217	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.585000	0.46111	1.286000	0.44565	0.313000	0.20887	GAC		0.517	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		5	105	0	0	0	0	5	105				
ALOX12	239	broad.mit.edu	37	17	6900305	6900305	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:6900305G>A	ENST00000251535.6	+	2	349	c.296G>A	c.(295-297)tGg>tAg	p.W99*	RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399541.2_Intron|RP11-589P10.5_ENST00000573222.1_lincRNA	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	99	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						TGCTACCGCTGGGTGCAGGGC	0.706																																						uc002gdx.3		NA																	0				central_nervous_system(1)	1						c.(295-297)TGG>TAG		arachidonate 12-lipoxygenase							22.0	16.0	18.0					17																	6900305		2192	4291	6483	SO:0001587	stop_gained	239				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr17:6900305G>A	M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"""Arachidonate lipoxygenases"""	429	protein-coding gene	gene with protein product	"""platelet 12-LOX"""	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.296G>A	17.37:g.6900305G>A	ENSP00000251535:p.Trp99*						p.W99*	NM_000697	NP_000688	P18054	LOX12_HUMAN			2	349	+			99			PLAT.		O95569|Q6ISF8|Q9UQM4	Nonsense_Mutation	SNP	ENST00000251535.6	37	c.296G>A	CCDS11084.1	.	.	.	.	.	.	.	.	.	.	G	38	6.721475	0.97788	.	.	ENSG00000108839	ENST00000251535	.	.	.	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8217	12.7946	0.57553	0.0:0.0:1.0:0.0	.	.	.	.	X	99	.	ENSP00000251535:W99X	W	+	2	0	ALOX12	6841029	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	7.109000	0.77062	2.482000	0.83794	0.467000	0.42956	TGG		0.706	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219922.2			5	3	0	0	0	0	5	3				
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)CGC>CAC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							50.0	50.0	50.0					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H	p.R175H	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	718	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		32	25	0	0	0	0	32	25				
MYH8	4626	broad.mit.edu	37	17	10302117	10302117	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:10302117C>T	ENST00000403437.2	-	29	4043	c.3949G>A	c.(3949-3951)Gag>Aag	p.E1317K	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1317					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGTTTCAGCTCTTCAATCTGC	0.388									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2		NA																	0				skin(6)|ovary(3)|breast(2)	11						c.(3949-3951)GAG>AAG		myosin, heavy chain 8, skeletal muscle,							92.0	84.0	87.0					17																	10302117		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10302117C>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3949G>A	17.37:g.10302117C>T	ENSP00000384330:p.Glu1317Lys					uc002gml.1_Intron	p.E1317K	NM_002472	NP_002463	P13535	MYH8_HUMAN			29	4044	-			1317			Potential.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.3949G>A	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	33	5.275526	0.95459	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.86956	-2.19	5.28	5.28	0.74379	Myosin tail (1);	0.000000	0.42053	U	0.000773	D	0.95557	0.8556	H	0.95114	3.625	0.58432	D	0.999999	D	0.63046	0.992	D	0.67548	0.952	D	0.96515	0.9381	10	0.87932	D	0	.	19.1054	0.93293	0.0:1.0:0.0:0.0	.	1317	P13535	MYH8_HUMAN	K	1317	ENSP00000384330:E1317K	ENSP00000252173:E1317K	E	-	1	0	MYH8	10242842	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.531000	0.81973	2.744000	0.94065	0.655000	0.94253	GAG		0.388	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		6	55	0	0	0	0	6	55				
ADPRM	56985	broad.mit.edu	37	17	10608466	10608466	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:10608466A>G	ENST00000379774.4	+	2	314	c.223A>G	c.(223-225)Atc>Gtc	p.I75V	ADPRM_ENST00000609540.1_Missense_Mutation_p.I75V	NM_020233.4	NP_064618.3	Q3LIE5	ADPRM_HUMAN	ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent	75							ADP-ribose diphosphatase activity (GO:0047631)|CDP-glycerol diphosphatase activity (GO:0047734)|metal ion binding (GO:0046872)										GCTTGGAGATATCATCGATGG	0.418																																						uc002gmt.2		NA																	0					0						c.(223-225)ATC>GTC		ADP-ribose/CDP-alcohol pyrophosphatase							159.0	148.0	152.0					17																	10608466		2203	4300	6503	SO:0001583	missense	56985						ADP-ribose diphosphatase activity|CDP-glycerol diphosphatase activity|metal ion binding	g.chr17:10608466A>G	BC070155	CCDS11159.2	17p13.1	2012-07-20	2012-07-20	2012-07-20	ENSG00000170222	ENSG00000170222	3.6.1.13, 3.6.1.16, 3.6.1.53		30925	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 48"""	C17orf48		18352857	Standard	XM_005256738		Approved	MDS006	uc002gmt.3	Q3LIE5	OTTHUMG00000130366	ENST00000379774.4:c.223A>G	17.37:g.10608466A>G	ENSP00000369099:p.Ile75Val					C17orf48_uc002gmu.2_RNA|C17orf48_uc002gmv.2_RNA|C17orf48_uc010vvg.1_Missense_Mutation_p.I75V	p.I75V	NM_020233	NP_064618	Q3LIE5	ADPRM_HUMAN			2	298	+			75					A8K9B4|D3DTS4|Q9BVD4|Q9NRU8	Missense_Mutation	SNP	ENST00000379774.4	37	c.223A>G	CCDS11159.2	.	.	.	.	.	.	.	.	.	.	A	7.354	0.623460	0.14193	.	.	ENSG00000170222	ENST00000379774	D	0.84944	-1.92	5.65	-4.55	0.03441	Metallophosphoesterase domain (1);	0.503587	0.21796	N	0.068985	T	0.70439	0.3224	L	0.41710	1.295	0.48830	D	0.999711	B	0.10296	0.003	B	0.13407	0.009	T	0.40739	-0.9547	10	0.35671	T	0.21	-11.3435	3.1829	0.06590	0.2779:0.2978:0.3272:0.0971	.	75	Q3LIE5	ADPRM_HUMAN	V	75	ENSP00000369099:I75V	ENSP00000369099:I75V	I	+	1	0	C17orf48	10549191	0.003000	0.15002	0.123000	0.21794	0.535000	0.34838	-0.007000	0.12810	-0.634000	0.05538	-0.290000	0.09829	ATC		0.418	ADPRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252732.2	NM_020233		20	95	0	0	0	0	20	95				
CCDC144A	9720	broad.mit.edu	37	17	16612243	16612243	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:16612243T>C	ENST00000360524.8	+	5	948	c.872T>C	c.(871-873)tTa>tCa	p.L291S	RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.L291S|CCDC144A_ENST00000443444.2_Missense_Mutation_p.L291S|CCDC144A_ENST00000456009.1_Intron|RN7SL620P_ENST00000580704.1_RNA|CCDC144A_ENST00000340621.5_Missense_Mutation_p.L290S|CCDC144A_ENST00000399273.1_Missense_Mutation_p.L291S	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	291																	AAAAACCAATTAAAACTCGTC	0.363																																						uc002gqk.1		NA																	0					0						c.(871-873)TTA>TCA		coiled-coil domain containing 144A							12.0	12.0	12.0					17																	16612243		1755	3983	5738	SO:0001583	missense	9720							g.chr17:16612243T>C	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.872T>C	17.37:g.16612243T>C	ENSP00000353717:p.Leu291Ser					CCDC144A_uc002gql.1_Intron|LOC162632_uc010cpj.1_5'Flank	p.L291S	NM_014695	NP_055510	A2RUR9	C144A_HUMAN			5	948	+			291					O60311|Q6ZU57	Missense_Mutation	SNP	ENST00000360524.8	37	c.872T>C	CCDS45621.1	.	.	.	.	.	.	.	.	.	.	.	12.71	2.019292	0.35606	.	.	ENSG00000170160	ENST00000340621;ENST00000399273;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000360495	T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97	1.71	1.71	0.24356	.	.	.	.	.	T	0.09905	0.0243	N	0.22421	0.69	0.21822	N	0.999526	P	0.41232	0.743	B	0.28385	0.089	T	0.18524	-1.0334	8	.	.	.	.	7.1288	0.25488	0.0:0.0:0.0:1.0	.	291	A2RUR9	C144A_HUMAN	S	290;291;291;291;291;291	ENSP00000344740:L290S;ENSP00000382215:L291S;ENSP00000439262:L291S;ENSP00000440655:L291S;ENSP00000353717:L291S;ENSP00000353685:L291S	.	L	+	2	0	CCDC144A	16552968	0.710000	0.27896	0.011000	0.14972	0.026000	0.11368	1.126000	0.31344	0.804000	0.34136	0.147000	0.16070	TTA		0.363	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			39	60	0	0	0	0	39	60				
SUPT6H	6830	broad.mit.edu	37	17	27017211	27017211	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:27017211A>G	ENST00000314616.6	+	26	3737	c.3454A>G	c.(3454-3456)Atg>Gtg	p.M1152V	SUPT6H_ENST00000347486.4_Missense_Mutation_p.M1152V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1152	Interaction with KDM6A. {ECO:0000250}.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GATCTTCAATATGTTAACCAA	0.458																																						uc002hby.2		NA																	0				ovary(2)|skin(1)	3						c.(3454-3456)ATG>GTG		suppressor of Ty 6 homolog							99.0	93.0	95.0					17																	27017211		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27017211A>G	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.3454A>G	17.37:g.27017211A>G	ENSP00000319104:p.Met1152Val					SUPT6H_uc010crt.2_Missense_Mutation_p.M1152V|SUPT6H_uc002hbz.1_Missense_Mutation_p.M84V	p.M1152V	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN			26	3544	+	Lung NSC(42;0.00431)		1152					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.3454A>G	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	A	14.79	2.641336	0.47153	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.78	5.78	0.91487	.	0.036133	0.85682	D	0.000000	T	0.67183	0.2866	M	0.65975	2.015	0.80722	D	1	B	0.17268	0.021	B	0.17433	0.018	T	0.64521	-0.6388	9	0.52906	T	0.07	-21.8474	16.3979	0.83621	1.0:0.0:0.0:0.0	.	1152	Q7KZ85	SPT6H_HUMAN	V	1152	.	ENSP00000319104:M1152V	M	+	1	0	SUPT6H	24041338	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.152000	0.50677	2.333000	0.79357	0.533000	0.62120	ATG		0.458	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		26	57	0	0	0	0	26	57				
ACACA	31	broad.mit.edu	37	17	35564685	35564685	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:35564685T>C	ENST00000394406.2	-	31	3816	c.3626A>G	c.(3625-3627)tAt>tGt	p.Y1209C	ACACA_ENST00000360679.3_Missense_Mutation_p.Y1151C|ACACA_ENST00000353139.5_Missense_Mutation_p.Y1246C|ACACA_ENST00000335166.5_Missense_Mutation_p.Y1131C	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1209					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GGTCATGCCATAGTGGTTGAG	0.473																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(3625-3627)TAT>TGT		acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)						151.0	122.0	132.0					17																	35564685		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35564685T>C	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.3626A>G	17.37:g.35564685T>C	ENSP00000377928:p.Tyr1209Cys					ACACA_uc002hnk.2_Missense_Mutation_p.Y1131C|ACACA_uc002hnl.2_Missense_Mutation_p.Y1151C|ACACA_uc002hnn.2_Missense_Mutation_p.Y1209C|ACACA_uc002hno.2_Missense_Mutation_p.Y1246C|ACACA_uc010cuy.2_5'Flank	p.Y1209C	NM_198836	NP_942133	Q13085	ACACA_HUMAN			31	3817	-		Breast(25;0.00157)|Ovarian(249;0.15)	1209					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.3626A>G	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	T	16.26	3.073893	0.55646	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	D;D;D;D	0.95103	-3.61;-3.61;-3.61;-3.61	5.51	5.51	0.81932	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	D	0.92205	0.7528	N	0.08118	0	0.80722	D	1	P;P;P	0.50943	0.94;0.89;0.867	P;B;B	0.57324	0.818;0.381;0.349	D	0.92849	0.6295	10	0.37606	T	0.19	-13.1554	15.9297	0.79648	0.0:0.0:0.0:1.0	.	1246;1209;1151	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	C	1246;1151;1209;1233;1131	ENSP00000344789:Y1246C;ENSP00000353898:Y1151C;ENSP00000377928:Y1209C;ENSP00000335323:Y1131C	ENSP00000335323:Y1131C	Y	-	2	0	ACACA	32638798	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.855000	0.62925	2.213000	0.71641	0.528000	0.53228	TAT		0.473	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		21	84	0	0	0	0	21	84				
KRT25	147183	broad.mit.edu	37	17	38906826	38906826	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:38906826C>G	ENST00000312150.4	-	6	1041	c.981G>C	c.(979-981)ttG>ttC	p.L327F		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CGGTCTCTGTCAAGGAGCACT	0.522																																						uc002hve.2		NA																	0				ovary(2)	2						c.(979-981)TTG>TTC		keratin 25							116.0	118.0	118.0					17																	38906826		2203	4300	6503	SO:0001583	missense	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38906826C>G	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.981G>C	17.37:g.38906826C>G	ENSP00000310573:p.Leu327Phe						p.L327F	NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN			6	1042	-		Breast(137;0.00526)	327			Rod.|Coil 2.			Missense_Mutation	SNP	ENST00000312150.4	37	c.981G>C	CCDS11373.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.819632	0.50633	.	.	ENSG00000204897	ENST00000394042;ENST00000312150	D	0.90620	-2.7	5.45	3.31	0.37934	Filament (1);	0.000000	0.46442	D	0.000296	D	0.96589	0.8887	H	0.97103	3.94	0.37414	D	0.91334	D	0.89917	1.0	D	0.91635	0.999	D	0.98446	1.0589	10	0.87932	D	0	.	12.1704	0.54155	0.1352:0.7348:0.13:0.0	.	327	Q7Z3Z0	K1C25_HUMAN	F	256;327	ENSP00000310573:L327F	ENSP00000310573:L327F	L	-	3	2	KRT25	36160352	0.014000	0.17966	0.903000	0.35520	0.580000	0.36256	0.450000	0.21762	1.209000	0.43321	0.655000	0.94253	TTG		0.522	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		18	216	0	0	0	0	18	216				
JUP	3728	broad.mit.edu	37	17	39912040	39912040	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:39912040C>T	ENST00000393931.3	-	14	2312	c.2194G>A	c.(2194-2196)Ggc>Agc	p.G732S	JUP_ENST00000540235.1_Intron|JUP_ENST00000310706.5_Missense_Mutation_p.G732S|JUP_ENST00000393930.1_Missense_Mutation_p.G732S	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	732					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GGCCTGAGGCCGTCGCTGTAG	0.632																																					Colon(16;42 520 6044 17852 28530)	uc002hxq.2		NA																	0				ovary(2)|lung(2)|breast(1)	5						c.(2194-2196)GGC>AGC		junction plakoglobin							78.0	72.0	74.0					17																	39912040		2203	4300	6503	SO:0001583	missense	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39912040C>T	AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"""Armadillo repeat containing"""	6207	protein-coding gene	gene with protein product		173325	"""catenin (cadherin-associated protein), gamma 80kDa"""	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.2194G>A	17.37:g.39912040C>T	ENSP00000377508:p.Gly732Ser					JUP_uc010wfs.1_Intron|JUP_uc002hxr.2_Missense_Mutation_p.G732S|JUP_uc002hxs.2_Missense_Mutation_p.G732S	p.G732S	NM_021991	NP_068831	P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	14	2471	-		Breast(137;0.000162)	732					Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Missense_Mutation	SNP	ENST00000393931.3	37	c.2194G>A	CCDS11407.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.742480	0.49151	.	.	ENSG00000173801	ENST00000393930;ENST00000310706;ENST00000393931	T;T;T	0.61040	0.14;0.14;0.14	4.93	3.97	0.46021	.	0.000000	0.48286	D	0.000198	T	0.44871	0.1314	L	0.40543	1.245	0.80722	D	1	B	0.18461	0.028	B	0.16289	0.015	T	0.37888	-0.9686	10	0.41790	T	0.15	-34.0242	7.8435	0.29412	0.0:0.7494:0.1632:0.0873	.	732	P14923	PLAK_HUMAN	S	732	ENSP00000377507:G732S;ENSP00000311113:G732S;ENSP00000377508:G732S	ENSP00000311113:G732S	G	-	1	0	JUP	37165566	0.994000	0.37717	0.967000	0.41034	0.844000	0.47949	3.250000	0.51445	1.290000	0.44636	0.655000	0.94253	GGC		0.632	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1			12	51	0	0	0	0	12	51				
BRCA1	672	broad.mit.edu	37	17	41244991	41244991	+	Missense_Mutation	SNP	C	C	T	rs397508978|rs397508979		TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:41244991C>T	ENST00000357654.3	-	10	2675	c.2557G>A	c.(2557-2559)Gat>Aat	p.D853N	BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.D806N|BRCA1_ENST00000471181.2_Missense_Mutation_p.D853N|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.D853N|BRCA1_ENST00000354071.3_Missense_Mutation_p.D853N|BRCA1_ENST00000309486.4_Missense_Mutation_p.D557N	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	853					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TACTGAGCATCAAGTTCACTT	0.393			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												uc002icq.2		NA	yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	D|Mis|N|F|S	familial breast/ovarian cancer gene 1			E		breast|ovarian	ovarian		0				ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52						c.(2557-2559)GAT>AAT	Homologous_recombination	breast cancer 1, early onset isoform 1							124.0	124.0	124.0					17																	41244991		2203	4300	6503	SO:0001583	missense	672	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41244991C>T	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.2557G>A	17.37:g.41244991C>T	ENSP00000350283:p.Asp853Asn	TCGA Ovarian(2;0.000030)				BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.D782N|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.D806N|BRCA1_uc002ict.2_Missense_Mutation_p.D853N|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.D853N|BRCA1_uc002ide.1_Missense_Mutation_p.D684N|BRCA1_uc010cyy.1_Missense_Mutation_p.D853N|BRCA1_uc010whs.1_Missense_Mutation_p.D853N|BRCA1_uc010cyz.2_Missense_Mutation_p.D806N|BRCA1_uc010cza.2_Missense_Mutation_p.D827N|BRCA1_uc010wht.1_Missense_Mutation_p.D557N	p.D853N	NM_007294	NP_009225	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	2789	-		Breast(137;0.000717)	853					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.2557G>A	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228306	0.79576	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795	T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	5.15	5.15	0.70609	.	0.000000	0.56097	D	0.000031	D	0.92306	0.7559	M	0.93420	3.415	0.43032	D	0.9946	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.998;0.999;0.999;0.997	D	0.94134	0.7391	10	0.87932	D	0	.	16.9824	0.86332	0.0:1.0:0.0:0.0	.	853;812;853;853;853;853	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	N	853;853;853;853;557;853;806	ENSP00000350283:D853N;ENSP00000326002:D853N;ENSP00000246907:D853N;ENSP00000310938:D557N;ENSP00000418960:D853N;ENSP00000418775:D806N	ENSP00000310938:D557N	D	-	1	0	BRCA1	38498517	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	4.864000	0.62990	2.670000	0.90874	0.484000	0.47621	GAT		0.393	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		50	133	0	0	0	0	50	133				
LUC7L3	51747	broad.mit.edu	37	17	48821155	48821155	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:48821155T>C	ENST00000505658.1	+	6	704	c.515T>C	c.(514-516)cTa>cCa	p.L172P	LUC7L3_ENST00000544170.1_Missense_Mutation_p.L96P|LUC7L3_ENST00000393227.2_Missense_Mutation_p.L172P|LUC7L3_ENST00000240304.1_Missense_Mutation_p.L172P			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	172					mRNA splice site selection (GO:0006376)|RNA splicing (GO:0008380)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U1 snRNP (GO:0005685)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						AGAGAACTGCTAAGGTCCACA	0.363																																						uc002isr.2		NA																	0					0						c.(514-516)CTA>CCA		LUC7-like 3							90.0	91.0	91.0					17																	48821155		2203	4300	6503	SO:0001583	missense	51747				apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding	g.chr17:48821155T>C		CCDS11573.1	17q21.33	2010-02-17			ENSG00000108848	ENSG00000108848			24309	protein-coding gene	gene with protein product	"""cisplatin resistance associated overexpressed protein"", ""CRE-associated protein"""	609434				10631324, 12565863	Standard	NM_016424		Approved	LUC7A, CROP, OA48-18, CREAP-1, FLJ11063, CRA, hLuc7A	uc002iss.3	O95232	OTTHUMG00000162257	ENST00000505658.1:c.515T>C	17.37:g.48821155T>C	ENSP00000425092:p.Leu172Pro					LUC7L3_uc002isp.1_Missense_Mutation_p.L96P|LUC7L3_uc010wmw.1_Missense_Mutation_p.L96P|LUC7L3_uc002isq.2_Missense_Mutation_p.L172P|LUC7L3_uc002iss.2_Missense_Mutation_p.L172P	p.L172P	NM_006107	NP_006098	O95232	LC7L3_HUMAN			6	632	+			172			Potential.		B3KN54|D3DTY1|Q6PHR9|Q9NUY0|Q9P2S7	Missense_Mutation	SNP	ENST00000505658.1	37	c.515T>C	CCDS11573.1	.	.	.	.	.	.	.	.	.	.	T	17.37	3.373667	0.61624	.	.	ENSG00000108848	ENST00000505658;ENST00000393227;ENST00000240304;ENST00000542316;ENST00000544170	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.62208	0.2409	M	0.89478	3.035	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.999	D;D;D	0.87578	0.997;0.995;0.998	T	0.67749	-0.5590	10	0.46703	T	0.11	-7.6718	15.8568	0.78983	0.0:0.0:0.0:1.0	.	96;172;172	B4DJ96;O95232;A8K3C5	.;LC7L3_HUMAN;.	P	172;172;172;172;96	ENSP00000425092:L172P;ENSP00000376919:L172P;ENSP00000240304:L172P;ENSP00000444253:L96P	ENSP00000240304:L172P	L	+	2	0	LUC7L3	46176154	1.000000	0.71417	1.000000	0.80357	0.185000	0.23345	7.997000	0.88414	2.198000	0.70561	0.455000	0.32223	CTA		0.363	LUC7L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368205.2	NM_016424		9	48	0	0	0	0	9	48				
SMURF2	64750	broad.mit.edu	37	17	62579622	62579622	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:62579622G>C	ENST00000262435.9	-	7	713	c.526C>G	c.(526-528)Cta>Gta	p.L176V	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	176	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				BMP signaling pathway (GO:0030509)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|SMAD binding (GO:0046332)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			ATATGGTTTAGATACTGGATT	0.413																																						uc002jep.1		NA																	0				skin(3)|lung(1)	4						c.(526-528)CTA>GTA		SMAD specific E3 ubiquitin protein ligase 2							180.0	144.0	156.0					17																	62579622		2203	4300	6503	SO:0001583	missense	64750				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity	g.chr17:62579622G>C	AF301463	CCDS32707.1	17q22-q23	2012-10-05			ENSG00000108854	ENSG00000108854			16809	protein-coding gene	gene with protein product		605532				11016919	Standard	XM_005257585		Approved		uc002jep.1	Q9HAU4	OTTHUMG00000179189	ENST00000262435.9:c.526C>G	17.37:g.62579622G>C	ENSP00000262435:p.Leu176Val					SMURF2_uc002jeq.1_Translation_Start_Site|SMURF2_uc002jer.1_Translation_Start_Site	p.L176V	NM_022739	NP_073576	Q9HAU4	SMUF2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;9.88e-12)		7	914	-	Breast(5;1.32e-14)		176			WW 1.		Q52LL1|Q9H260	Missense_Mutation	SNP	ENST00000262435.9	37	c.526C>G	CCDS32707.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304670	0.23736	.	.	ENSG00000108854	ENST00000262435	T	0.80393	-1.37	5.06	3.03	0.35002	WW/Rsp5/WWP (5);	0.000000	0.64402	D	0.000001	T	0.44074	0.1276	N	0.00473	-1.45	0.45883	D	0.99873	B	0.14805	0.011	B	0.17098	0.017	T	0.52563	-0.8559	10	0.02654	T	1	.	8.9559	0.35818	0.271:0.0:0.729:0.0	.	176	Q9HAU4	SMUF2_HUMAN	V	176	ENSP00000262435:L176V	ENSP00000262435:L176V	L	-	1	2	SMURF2	60010084	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.633000	0.37113	1.256000	0.44068	0.585000	0.79938	CTA		0.413	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445227.1	NM_022739		4	85	0	0	0	0	4	85				
CD300E	342510	broad.mit.edu	37	17	72619723	72619723	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:72619723G>C	ENST00000328630.3	-	1	78	c.38C>G	c.(37-39)tCa>tGa	p.S13*	CD300E_ENST00000426295.2_Nonsense_Mutation_p.S54*|CD300E_ENST00000392619.1_Nonsense_Mutation_p.S40*			Q496F6	CLM2_HUMAN	CD300e molecule	13					innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						CCACTCACCTGAGAGGCAGAG	0.547																																						uc002jlb.1		NA																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.(37-39)TCA>TGA		CD300e molecule precursor							115.0	108.0	111.0					17																	72619723		2203	4300	6503	SO:0001587	stop_gained	342510					integral to membrane|plasma membrane	receptor activity	g.chr17:72619723G>C	BX648376	CCDS11702.1	17q25.1	2013-01-11	2006-03-28	2006-02-22	ENSG00000186407	ENSG00000186407		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	28874	protein-coding gene	gene with protein product		609801	"""CD300 antigen like family member E"", ""CD300e antigen"""	CD300LE		15549731, 15557162	Standard	NM_181449		Approved	IREM2, CLM2	uc002jlb.2	Q496F6	OTTHUMG00000067605	ENST00000328630.3:c.38C>G	17.37:g.72619723G>C	ENSP00000329942:p.Ser13*						p.S13*	NM_181449	NP_852114	Q496F6	CLM2_HUMAN			1	79	-			13					B4DNS1|Q7Z7I3	Nonsense_Mutation	SNP	ENST00000328630.3	37	c.38C>G	CCDS11702.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.682405	0.47991	.	.	ENSG00000186407	ENST00000392619;ENST00000426295;ENST00000328630	.	.	.	3.87	0.522	0.17053	.	0.851351	0.09768	N	0.758361	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-16.4226	2.4247	0.04456	0.1141:0.1791:0.5073:0.1995	.	.	.	.	X	40;54;13	.	ENSP00000329942:S13X	S	-	2	0	CD300E	70131318	0.997000	0.39634	0.938000	0.37757	0.021000	0.10359	0.690000	0.25451	0.027000	0.15297	-0.436000	0.05848	TCA		0.547	CD300E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181449		4	152	0	0	0	0	4	152				
FHOD3	80206	broad.mit.edu	37	18	33935606	33935606	+	Silent	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr18:33935606C>T	ENST00000359247.4	+	2	270	c.270C>T	c.(268-270)gcC>gcT	p.A90A	FHOD3_ENST00000590592.1_Silent_p.A90A|FHOD3_ENST00000257209.4_Silent_p.A90A|FHOD3_ENST00000445677.1_Silent_p.A90A	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	90	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AGGATGACGCCGGGTAAGAGC	0.542																																						uc002kzt.1		NA																	0				skin(3)|large_intestine(2)|breast(2)|ovary(1)	8						c.(268-270)GCC>GCT		formin homology 2 domain containing 3							78.0	63.0	68.0					18																	33935606		2203	4300	6503	SO:0001819	synonymous_variant	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:33935606C>T	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.270C>T	18.37:g.33935606C>T						FHOD3_uc002kzr.1_Silent_p.A90A|FHOD3_uc002kzs.1_Silent_p.A90A	p.A90A	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN			2	367	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	90			GBD/FH3.		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Silent	SNP	ENST00000359247.4	37	c.270C>T																																																																																					0.542	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		15	13	0	0	0	0	15	13				
SMAD2	4087	broad.mit.edu	37	18	45371798	45371798	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr18:45371798A>G	ENST00000402690.2	-	10	1587	c.1193T>C	c.(1192-1194)gTt>gCt	p.V398A	SMAD2_ENST00000591214.1_Missense_Mutation_p.V368A|SMAD2_ENST00000356825.4_Missense_Mutation_p.V368A|SMAD2_ENST00000586040.1_Missense_Mutation_p.V368A|SMAD2_ENST00000262160.6_Missense_Mutation_p.V398A	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	398	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						ACCCTGATTAACAGACTGAGC	0.383																																						uc002lcy.2		NA																	0				large_intestine(3)|lung(1)|central_nervous_system(1)	5						c.(1192-1194)GTT>GCT		Sma- and Mad-related protein 2 isoform 1							83.0	82.0	83.0					18																	45371798		2203	4300	6503	SO:0001583	missense	4087				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr18:45371798A>G	U65019	CCDS11934.1	18q21	2006-11-06	2006-11-06	2004-05-26	ENSG00000175387	ENSG00000175387		"""SMADs"""	6768	protein-coding gene	gene with protein product		601366	"""MAD, mothers against decapentaplegic homolog 2 (Drosophila)"", ""SMAD, mothers against DPP homolog 2 (Drosophila)"""	MADH2		8752209, 8673135	Standard	NM_001003652		Approved	MADR2, JV18-1	uc002lcz.4	Q15796	OTTHUMG00000132652	ENST00000402690.2:c.1193T>C	18.37:g.45371798A>G	ENSP00000384449:p.Val398Ala					SMAD2_uc002lcz.2_Missense_Mutation_p.V398A|SMAD2_uc010xdc.1_Missense_Mutation_p.V368A|SMAD2_uc010xdd.1_Missense_Mutation_p.V368A	p.V398A	NM_005901	NP_005892	Q15796	SMAD2_HUMAN			10	1441	-			398	V->R: Increased binding to PPM1A.		MH2.			Missense_Mutation	SNP	ENST00000402690.2	37	c.1193T>C	CCDS11934.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.838799	0.91117	.	.	ENSG00000175387	ENST00000262160;ENST00000356825;ENST00000402690	D;D;D	0.97066	-4.23;-4.23;-4.23	5.78	5.78	0.91487	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.98012	0.9345	M	0.67953	2.075	0.80722	D	1	D;P;D	0.89917	1.0;0.86;0.995	D;P;D	0.87578	0.998;0.618;0.962	D	0.98104	1.0416	10	0.39692	T	0.17	.	16.1193	0.81336	1.0:0.0:0.0:0.0	.	368;368;398	B7Z5N5;Q15796-2;Q15796	.;.;SMAD2_HUMAN	A	398;368;398	ENSP00000262160:V398A;ENSP00000349282:V368A;ENSP00000384449:V398A	ENSP00000262160:V398A	V	-	2	0	SMAD2	43625796	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.204000	0.70986	0.528000	0.53228	GTT		0.383	SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450571.1	NM_005901		49	42	0	0	0	0	49	42				
AP3D1	8943	broad.mit.edu	37	19	2121203	2121203	+	Silent	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:2121203G>A	ENST00000345016.5	-	13	1440	c.1209C>T	c.(1207-1209)atC>atT	p.I403I	AP3D1_ENST00000356926.4_Silent_p.I312I|AP3D1_ENST00000590683.1_5'UTR|AP3D1_ENST00000350812.6_Silent_p.I234I|AP3D1_ENST00000355272.6_Silent_p.I403I	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	403					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTGGCTGCAGATGTCAATGA	0.587																																						uc002luz.2		NA																	0					0						c.(1207-1209)ATC>ATT		adaptor-related protein complex 3, delta 1							175.0	194.0	188.0					19																	2121203		2171	4268	6439	SO:0001819	synonymous_variant	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2121203G>A	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.1209C>T	19.37:g.2121203G>A						AP3D1_uc002luy.2_Silent_p.I312I|AP3D1_uc002lva.2_Silent_p.I403I	p.I403I	NM_003938	NP_003929	O14617	AP3D1_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)	13	1432	-		Hepatocellular(1079;0.137)	403			HEAT 8.		O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Silent	SNP	ENST00000345016.5	37	c.1209C>T	CCDS42459.1																																																																																				0.587	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			16	63	0	0	0	0	16	63				
DOT1L	84444	broad.mit.edu	37	19	2210666	2210666	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:2210666A>T	ENST00000398665.3	+	14	1199	c.1163A>T	c.(1162-1164)aAg>aTg	p.K388M	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	388					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCGTGAAGAAGCCGTCTCCC	0.607																																						uc002lvb.3		NA																	0				pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4						c.(1162-1164)AAG>ATG		DOT1-like, histone H3 methyltransferase							86.0	99.0	95.0					19																	2210666		1972	4139	6111	SO:0001583	missense	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2210666A>T	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.1163A>T	19.37:g.2210666A>T	ENSP00000381657:p.Lys388Met					DOT1L_uc002lvc.1_5'Flank	p.K388M	NM_032482	NP_115871	Q8TEK3	DOT1L_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)	14	1199	+		Hepatocellular(1079;0.137)	388					O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	c.1163A>T	CCDS42460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.61|15.61	2.883033|2.883033	0.51908|0.51908	.|.	.|.	ENSG00000104885|ENSG00000104885	ENST00000398665;ENST00000221482|ENST00000440640	T|.	0.27557|.	1.66|.	4.94|4.94	3.92|3.92	0.45320|0.45320	.|.	0.052977|.	0.64402|.	D|.	0.000001|.	T|T	0.63861|0.63861	0.2547|0.2547	M|M	0.68952|0.68952	2.095|2.095	0.43761|0.43761	D|D	0.996277|0.996277	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.60732|0.60732	-0.7205|-0.7205	10|5	0.87932|.	D|.	0|.	-26.9044|-26.9044	9.8242|9.8242	0.40901|0.40901	0.9184:0.0:0.0816:0.0|0.9184:0.0:0.0816:0.0	.|.	388|.	Q8TEK3-2|.	.|.	M|C	388|175	ENSP00000381657:K388M|.	ENSP00000221482:K388M|.	K|S	+|+	2|1	0|0	DOT1L|DOT1L	2161666|2161666	1.000000|1.000000	0.71417|0.71417	0.849000|0.849000	0.33467|0.33467	0.089000|0.089000	0.18198|0.18198	6.848000|6.848000	0.75409|0.75409	0.729000|0.729000	0.32403|0.32403	0.459000|0.459000	0.35465|0.35465	AAG|AGC		0.607	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		22	131	0	0	0	0	22	131				
DIRAS1	148252	broad.mit.edu	37	19	2717766	2717766	+	Silent	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:2717766G>A	ENST00000323469.4	-	2	222	c.39C>T	c.(37-39)ttC>ttT	p.F13F	DIRAS1_ENST00000585334.1_Silent_p.F13F|AC006538.4_ENST00000586572.1_Intron	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	13					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				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)		CGCCCGCCCCGAACACCACCA	0.692																																						uc002lwf.3		NA																	0				ovary(1)	1						c.(37-39)TTC>TTT		DIRAS family, GTP-binding RAS-like 1							44.0	43.0	43.0					19																	2717766		2203	4298	6501	SO:0001819	synonymous_variant	148252				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	g.chr19:2717766G>A	BC030660	CCDS12092.1	19p13.3	2014-05-09				ENSG00000176490			19127	protein-coding gene	gene with protein product		607862				12107278	Standard	NM_145173		Approved	Di-Ras1, GBTS1, RIG	uc002lwf.3	O95057		ENST00000323469.4:c.39C>T	19.37:g.2717766G>A							p.F13F	NM_145173	NP_660156	O95057	DIRA1_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)	2	197	-			13						Silent	SNP	ENST00000323469.4	37	c.39C>T	CCDS12092.1																																																																																				0.692	DIRAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451350.1			9	30	0	0	0	0	9	30				
SLC44A2	57153	broad.mit.edu	37	19	10745462	10745462	+	Missense_Mutation	SNP	G	G	A	rs369805313		TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:10745462G>A	ENST00000335757.5	+	11	1230	c.854G>A	c.(853-855)cGa>cAa	p.R285Q	SLC44A2_ENST00000586078.1_Missense_Mutation_p.R285Q|SLC44A2_ENST00000407327.4_Missense_Mutation_p.R283Q			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	285					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	GAGTACTCCCGACTGCGTGGT	0.557																																						uc002mpf.2		NA																	0				ovary(1)	1						c.(853-855)CGA>CAA		solute carrier family 44, member 2 isoform 1	Choline(DB00122)	G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	157.0	137.0	144.0		854,848	5.5	0.1	19		144	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SLC44A2	NM_020428.3,NM_001145056.1	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	285/707,283/705	10745462	1,13005	2203	4300	6503	SO:0001583	missense	57153				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity	g.chr19:10745462G>A	AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"""Solute carriers"""	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.854G>A	19.37:g.10745462G>A	ENSP00000336888:p.Arg285Gln					SLC44A2_uc002mpe.3_Missense_Mutation_p.R283Q|SLC44A2_uc002mpg.1_Missense_Mutation_p.R5Q|SLC44A2_uc002mph.2_5'Flank	p.R285Q	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		11	993	+			285			Extracellular (Potential).		B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Missense_Mutation	SNP	ENST00000335757.5	37	c.854G>A	CCDS12245.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.354717	0.24512	0.0	1.16E-4	ENSG00000129353	ENST00000407327;ENST00000335757;ENST00000380614	T;T	0.09538	2.97;2.97	5.46	5.46	0.80206	.	0.276243	0.38005	N	0.001842	T	0.10594	0.0259	L	0.56769	1.78	0.09310	N	0.999999	B;B;B	0.12013	0.005;0.003;0.005	B;B;B	0.13407	0.009;0.004;0.009	T	0.30679	-0.9970	10	0.14252	T	0.57	-32.5999	7.9837	0.30198	0.0847:0.1628:0.7524:0.0	.	285;285;283	Q8IWA5-2;Q8IWA5;Q8IWA5-3	.;CTL2_HUMAN;.	Q	283;285;285	ENSP00000385135:R283Q;ENSP00000336888:R285Q	ENSP00000336888:R285Q	R	+	2	0	SLC44A2	10606462	0.003000	0.15002	0.109000	0.21407	0.986000	0.74619	1.502000	0.35704	2.570000	0.86706	0.557000	0.71058	CGA		0.557	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452045.1			4	97	0	0	0	0	4	97				
EMR3	84658	broad.mit.edu	37	19	14736338	14736338	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:14736338G>A	ENST00000253673.5	-	15	1986	c.1886C>T	c.(1885-1887)tCc>tTc	p.S629F	EMR3_ENST00000344373.4_Missense_Mutation_p.S577F|EMR3_ENST00000443157.2_Missense_Mutation_p.S503F|EMR3_ENST00000599900.1_Missense_Mutation_p.S414F	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	629					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CATCTTGCTGGAAAGTGTGTA	0.393																																						uc002mzi.3		NA																	0				ovary(5)|skin(1)	6						c.(1885-1887)TCC>TTC		egf-like module-containing mucin-like receptor							235.0	209.0	218.0					19																	14736338		2203	4300	6503	SO:0001583	missense	84658				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14736338G>A	AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.1886C>T	19.37:g.14736338G>A	ENSP00000253673:p.Ser629Phe					EMR3_uc010dzp.2_Missense_Mutation_p.S577F|EMR3_uc010xnv.1_Missense_Mutation_p.S503F	p.S629F	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN			15	2034	-			629			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000253673.5	37	c.1886C>T	CCDS12315.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.155893	0.38021	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.37915	1.17;1.17;1.17	3.79	3.79	0.43588	.	.	.	.	.	T	0.39064	0.1064	L	0.45352	1.415	0.30306	N	0.788983	B;P;P	0.37038	0.443;0.579;0.521	B;P;B	0.44623	0.267;0.455;0.289	T	0.44590	-0.9318	9	0.87932	D	0	.	11.3354	0.49500	0.0:0.0:1.0:0.0	.	503;577;629	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	F	503;629;577	ENSP00000396208:S503F;ENSP00000253673:S629F;ENSP00000340758:S577F	ENSP00000253673:S629F	S	-	2	0	EMR3	14597338	1.000000	0.71417	1.000000	0.80357	0.357000	0.29423	1.860000	0.39428	2.117000	0.64856	0.557000	0.71058	TCC		0.393	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		17	95	0	0	0	0	17	95				
ZNF429	353088	broad.mit.edu	37	19	21720747	21720747	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:21720747C>A	ENST00000358491.4	+	4	2100	c.1892C>A	c.(1891-1893)aCc>aAc	p.T631N	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	631					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						AAAGCTTTTACCCGGTCTTCA	0.433																																						uc002nqd.1		NA																	0				ovary(2)	2						c.(1891-1893)ACC>AAC		zinc finger protein 429							64.0	68.0	67.0					19																	21720747		2058	4224	6282	SO:0001583	missense	353088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21720747C>A	AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1892C>A	19.37:g.21720747C>A	ENSP00000351280:p.Thr631Asn					ZNF429_uc010ecu.1_Intron	p.T631N	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN			4	2029	+			631			C2H2-type 18.		A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	c.1892C>A	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	0.014	-1.600684	0.00849	.	.	ENSG00000197013	ENST00000358491	T	0.07800	3.16	1.09	1.09	0.20402	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04907	0.0132	L	0.28014	0.82	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45891	-0.9230	9	0.14252	T	0.57	.	4.658	0.12628	0.0:0.7707:0.0:0.2292	.	631	Q86V71	ZN429_HUMAN	N	631	ENSP00000351280:T631N	ENSP00000351280:T631N	T	+	2	0	ZNF429	21512587	0.000000	0.05858	0.018000	0.16275	0.235000	0.25334	-4.383000	0.00243	0.553000	0.29044	0.298000	0.19748	ACC		0.433	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415		4	40	1	0	0.00198382	0.00207723	4	40				
ZNF429	353088	broad.mit.edu	37	19	21720754	21720754	+	Silent	SNP	T	T	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:21720754T>C	ENST00000358491.4	+	4	2107	c.1899T>C	c.(1897-1899)tcT>tcC	p.S633S	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	633					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TTACCCGGTCTTCAAGACTTA	0.433																																						uc002nqd.1		NA																	0				ovary(2)	2						c.(1897-1899)TCT>TCC		zinc finger protein 429							63.0	66.0	65.0					19																	21720754		2037	4216	6253	SO:0001819	synonymous_variant	353088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21720754T>C	AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1899T>C	19.37:g.21720754T>C						ZNF429_uc010ecu.1_Intron	p.S633S	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN			4	2036	+			633			C2H2-type 18.		A6NLV7|Q9BZE6	Silent	SNP	ENST00000358491.4	37	c.1899T>C	CCDS42537.1																																																																																				0.433	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415		4	36	0	0	0	0	4	36				
C19orf40	91442	broad.mit.edu	37	19	33464412	33464412	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:33464412G>A	ENST00000588258.1	+	3	297	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	CEP89_ENST00000590597.2_5'Flank|CEP89_ENST00000305768.5_5'Flank|C19orf40_ENST00000590281.1_Missense_Mutation_p.E63K|CEP89_ENST00000591863.1_5'Flank|C19orf40_ENST00000589646.1_5'UTR|C19orf40_ENST00000590179.1_Intron	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	63					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					TTATGTCACCGAAGCTGATTT	0.438								Direct reversal of damage																														uc002nud.3		NA																	0					0						c.(187-189)GAA>AAA	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia-associated protein, 24 kDa							155.0	145.0	148.0					19																	33464412		2203	4300	6503	SO:0001583	missense	91442				DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding	g.chr19:33464412G>A	AK128668	CCDS12426.1, CCDS74327.1	19q13.11	2011-11-24			ENSG00000131944	ENSG00000131944			28467	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 24kDa"""	610884				17289582	Standard	XM_005259393		Approved	FLJ46828, MGC32020, FAAP24	uc002nud.4	Q9BTP7		ENST00000588258.1:c.187G>A	19.37:g.33464412G>A	ENSP00000466121:p.Glu63Lys					CCDC123_uc002nty.2_5'Flank|CCDC123_uc010edg.2_5'Flank|CCDC123_uc002ntz.1_5'Flank|CCDC123_uc002nua.2_5'Flank|CCDC123_uc002nuc.1_5'Flank	p.E63K	NM_152266	NP_689479	Q9BTP7	FAP24_HUMAN			3	305	+	Esophageal squamous(110;0.137)		63					B3KY46|Q8WUJ7|Q96FX6	Missense_Mutation	SNP	ENST00000588258.1	37	c.187G>A	CCDS12426.1	.	.	.	.	.	.	.	.	.	.	G	32	5.143503	0.94603	.	.	ENSG00000131944	ENST00000254262	.	.	.	4.74	4.74	0.60224	.	0.044969	0.85682	D	0.000000	T	0.78735	0.4330	M	0.74258	2.255	0.54753	D	0.999983	D	0.89917	1.0	D	0.80764	0.994	T	0.79281	-0.1868	9	0.42905	T	0.14	-23.7769	17.7073	0.88312	0.0:0.0:1.0:0.0	.	63	Q9BTP7	FAP24_HUMAN	K	63	.	ENSP00000254262:E63K	E	+	1	0	C19orf40	38156252	1.000000	0.71417	0.993000	0.49108	0.959000	0.62525	8.389000	0.90172	2.338000	0.79540	0.585000	0.79938	GAA		0.438	C19orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450823.2	NM_152266		19	106	0	0	0	0	19	106				
ATP4A	495	broad.mit.edu	37	19	36051332	36051332	+	Silent	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:36051332G>A	ENST00000262623.3	-	6	748	c.720C>T	c.(718-720)ccC>ccT	p.P240P		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	240					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GCGTGCACTCGGGTGAGCGGG	0.657																																						uc002oal.1		NA																	0				ovary(1)	1						c.(718-720)CCC>CCT		hydrogen/potassium-exchanging ATPase 4A	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						82.0	81.0	81.0					19																	36051332		2203	4300	6503	SO:0001819	synonymous_variant	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36051332G>A		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.720C>T	19.37:g.36051332G>A						ATP4A_uc010eee.1_5'Flank	p.P240P	NM_000704	NP_000695	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		6	749	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		240			Cytoplasmic (Potential).		O00738	Silent	SNP	ENST00000262623.3	37	c.720C>T	CCDS12467.1																																																																																				0.657	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		15	81	0	0	0	0	15	81				
NUP62	23636	broad.mit.edu	37	19	50412137	50412137	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:50412137C>T	ENST00000596217.1	-	2	2815	c.928G>A	c.(928-930)Gtg>Atg	p.V310M	IL4I1_ENST00000341114.3_Intron|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000352066.3_Missense_Mutation_p.V310M|NUP62_ENST00000597723.1_Intron|NUP62_ENST00000413454.1_Missense_Mutation_p.V310M|NUP62_ENST00000600583.1_5'Flank|NUP62_ENST00000422090.2_Missense_Mutation_p.V310M|NUP62_ENST00000597029.1_Missense_Mutation_p.V310M			P37198	NUP62_HUMAN	nucleoporin 62kDa	310	Ala-rich.				carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GGAGCGGTCACGGCAGCTGCT	0.652																																						uc002pqx.2		NA																	0					0						c.(928-930)GTG>ATG		nucleoporin 62kDa							27.0	33.0	31.0					19																	50412137		2181	4269	6450	SO:0001583	missense	23636				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding	g.chr19:50412137C>T	X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"""nuclear pore glycoprotein p62"""	605815	"""nucleoporin 62kD"""			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.928G>A	19.37:g.50412137C>T	ENSP00000471191:p.Val310Met					IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Missense_Mutation_p.V310M|NUP62_uc002pqz.2_Missense_Mutation_p.V310M|NUP62_uc002pra.2_Missense_Mutation_p.V310M|NUP62_uc002prb.2_Missense_Mutation_p.V310M|NUP62_uc002prc.2_Intron	p.V310M	NM_153719	NP_714941	P37198	NUP62_HUMAN		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	2	1032	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	310			Ala-rich.		B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Missense_Mutation	SNP	ENST00000596217.1	37	c.928G>A	CCDS12788.1	.	.	.	.	.	.	.	.	.	.	C	8.664	0.901167	0.17760	.	.	ENSG00000213024	ENST00000352066;ENST00000422090;ENST00000413454	T;T;T	0.37058	1.22;1.22;1.22	5.33	1.91	0.25777	Nucleoporin, NSP1-like, C-terminal (1);	0.789577	0.09078	U	0.851748	T	0.14874	0.0359	N	0.08118	0	0.09310	N	1	B	0.30851	0.297	B	0.11329	0.006	T	0.20505	-1.0273	9	.	.	.	0.2965	4.9728	0.14125	0.1654:0.6468:0.0:0.1878	.	310	P37198	NUP62_HUMAN	M	310	ENSP00000305503:V310M;ENSP00000407331:V310M;ENSP00000387991:V310M	.	V	-	1	0	NUP62	55103949	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.115000	0.15540	0.399000	0.25367	-0.181000	0.13052	GTG		0.652	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1	NM_153719		9	49	0	0	0	0	9	49				
ZNF577	84765	broad.mit.edu	37	19	52376780	52376780	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:52376780C>G	ENST00000301399.5	-	7	828	c.463G>C	c.(463-465)Ggg>Cgg	p.G155R	ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000420592.1_Missense_Mutation_p.G96R|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000451628.2_Missense_Mutation_p.G96R	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	155					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGTGGTTTCCCTCCTGCACAA	0.448																																						uc010yde.1		NA																	0				ovary(1)	1						c.(463-465)GGG>CGG		zinc finger protein 577 isoform a							138.0	135.0	136.0					19																	52376780		2203	4300	6503	SO:0001583	missense	84765				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52376780C>G	AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"""Zinc fingers, C2H2-type"", ""-"""	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.463G>C	19.37:g.52376780C>G	ENSP00000301399:p.Gly155Arg					ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.3_Missense_Mutation_p.G96R|ZNF577_uc002pxv.2_Missense_Mutation_p.G148R|ZNF577_uc002pxw.2_Missense_Mutation_p.G89R	p.G155R	NM_032679	NP_116068	Q9BSK1	ZN577_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	7	854	-		all_neural(266;0.0602)	155					A8K0B4|A8K6Z7|C9JFB9	Missense_Mutation	SNP	ENST00000301399.5	37	c.463G>C	CCDS12842.2	.	.	.	.	.	.	.	.	.	.	.	2.937	-0.219653	0.06061	.	.	ENSG00000161551	ENST00000301399;ENST00000420592;ENST00000451628;ENST00000458390	T;T;T;T	0.15017	2.46;3.34;3.34;2.46	2.97	-0.686	0.11324	.	.	.	.	.	T	0.10895	0.0266	N	0.24115	0.695	0.19300	N	0.999979	B;B	0.16603	0.0;0.018	B;B	0.17979	0.0;0.02	T	0.30851	-0.9964	9	0.72032	D	0.01	.	7.1935	0.25839	0.0:0.6555:0.0:0.3445	.	155;96	Q9BSK1;Q9BSK1-2	ZN577_HUMAN;.	R	155;96;96;155	ENSP00000301399:G155R;ENSP00000413476:G96R;ENSP00000389652:G96R;ENSP00000404509:G155R	ENSP00000301399:G155R	G	-	1	0	ZNF577	57068592	0.004000	0.15560	0.004000	0.12327	0.058000	0.15608	1.201000	0.32259	-0.194000	0.10399	0.563000	0.77884	GGG		0.448	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679		7	120	0	0	0	0	7	120				
MBOAT7	79143	broad.mit.edu	37	19	54677830	54677830	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:54677830G>T	ENST00000245615.1	-	8	1807	c.1327C>A	c.(1327-1329)Ctg>Atg	p.L443M	MBOAT7_ENST00000338624.6_Missense_Mutation_p.L370M|TMC4_ENST00000301187.4_5'Flank|TMC4_ENST00000476013.2_5'Flank|MBOAT7_ENST00000431666.2_Missense_Mutation_p.L370M|TMC4_ENST00000376591.4_5'Flank	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	443					glycerophospholipid biosynthetic process (GO:0046474)|layer formation in cerebral cortex (GO:0021819)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|ventricular system development (GO:0021591)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipid acyltransferase activity (GO:0071617)			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCAGCCCCAGCCCCAGGGCT	0.652																																					NSCLC(97;826 2151 10470 22540)	uc002qdq.2		NA																	0					0						c.(1327-1329)CTG>ATG		membrane bound O-acyltransferase domain							39.0	39.0	39.0					19																	54677830		2203	4300	6503	SO:0001583	missense	79143				phospholipid biosynthetic process	integral to membrane	acyltransferase activity	g.chr19:54677830G>T	AF211969	CCDS12883.1, CCDS54315.1, CCDS54316.1	19q13.4	2008-12-15	2008-01-17	2008-01-17	ENSG00000125505	ENSG00000125505			15505	protein-coding gene	gene with protein product	"""lysophosphatidylinositol acyltransferase"""	606048	"""leukocyte receptor cluster (LRC) member 4"""	LENG4		10941842, 8702217, 18094042	Standard	NM_024298		Approved	BB1, hMBOA-7, LPIAT	uc002qdr.3	Q96N66	OTTHUMG00000066516	ENST00000245615.1:c.1327C>A	19.37:g.54677830G>T	ENSP00000245615:p.Leu443Met					TMC4_uc010erf.2_5'Flank|TMC4_uc002qdo.2_5'Flank|MBOAT7_uc010erg.2_Missense_Mutation_p.L127M|MBOAT7_uc010yem.1_Missense_Mutation_p.L425M|MBOAT7_uc002qdr.2_Missense_Mutation_p.L443M|MBOAT7_uc002qds.2_Missense_Mutation_p.L370M|MBOAT7_uc010yen.1_Missense_Mutation_p.L370M	p.L443M	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN			9	1593	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		443			Helical; (Potential).		A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	Missense_Mutation	SNP	ENST00000245615.1	37	c.1327C>A	CCDS12883.1	.	.	.	.	.	.	.	.	.	.	g	17.00	3.275859	0.59649	.	.	ENSG00000125505	ENST00000431666;ENST00000338624;ENST00000245615	T;T;T	0.24723	1.84;1.84;1.91	4.79	3.73	0.42828	.	2.172410	0.03030	N	0.151916	T	0.49643	0.1569	L	0.53249	1.67	0.32893	D	0.512082	P;D;D	0.63880	0.937;0.993;0.968	P;P;P	0.62740	0.501;0.906;0.652	T	0.28299	-1.0048	10	0.54805	T	0.06	-7.1185	14.2135	0.65779	0.0:0.1515:0.8485:0.0	.	425;370;443	B4DDH8;Q96N66-2;Q96N66	.;.;MBOA7_HUMAN	M	370;370;443	ENSP00000410503:L370M;ENSP00000344377:L370M;ENSP00000245615:L443M	ENSP00000245615:L443M	L	-	1	2	MBOAT7	59369642	0.923000	0.31300	0.997000	0.53966	0.807000	0.45602	1.686000	0.37669	1.130000	0.42092	0.480000	0.44947	CTG		0.652	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142203.1	NM_024298		8	33	1	0	5.18e-06	5.76e-06	8	33				
PEG3	5178	broad.mit.edu	37	19	57327434	57327434	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:57327434A>C	ENST00000326441.9	-	10	2739	c.2376T>G	c.(2374-2376)agT>agG	p.S792R	PEG3_ENST00000593695.1_Missense_Mutation_p.S666R|PEG3_ENST00000423103.2_Missense_Mutation_p.S792R|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.S668R|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	792					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GCCCTGCTACACTGTGACTTT	0.453																																						uc002qnu.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(2374-2376)AGT>AGG		paternally expressed 3 isoform 1							178.0	173.0	175.0					19																	57327434		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57327434A>C	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2376T>G	19.37:g.57327434A>C	ENSP00000326581:p.Ser792Arg					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.S763R|PEG3_uc002qnv.2_Missense_Mutation_p.S792R|PEG3_uc002qnw.2_Missense_Mutation_p.S668R|PEG3_uc002qnx.2_Missense_Mutation_p.S666R|PEG3_uc010etr.2_Missense_Mutation_p.S792R	p.S792R	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	2727	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	792					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.2376T>G	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	A	13.23	2.175856	0.38413	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.03689	3.84;3.84	3.9	-3.13	0.05266	.	0.472179	0.20068	N	0.099932	T	0.05364	0.0142	M	0.69823	2.125	.	.	.	P;P;D	0.54207	0.736;0.956;0.965	B;B;B	0.41860	0.282;0.361;0.368	T	0.06197	-1.0840	9	0.72032	D	0.01	-5.4277	11.0677	0.47985	0.3779:0.0:0.6221:0.0	.	668;792;727	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	R	792	ENSP00000326581:S792R;ENSP00000403051:S792R	ENSP00000326581:S792R	S	-	3	2	ZIM2	62019246	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-1.188000	0.03064	-0.856000	0.04120	-0.334000	0.08254	AGT		0.453	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			76	88	0	0	0	0	76	88				
ZBTB45	84878	broad.mit.edu	37	19	59028615	59028615	+	Silent	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:59028615C>T	ENST00000594051.1	-	2	906	c.426G>A	c.(424-426)ccG>ccA	p.P142P	ZBTB45_ENST00000600990.1_Silent_p.P142P|ZBTB45_ENST00000354590.3_Silent_p.P142P			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	142	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GTGCGAGTGGCGGGGGCACAG	0.706											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(164;1383 2017 5233 27540 46677)	uc002qtd.2		NA																	0					0						c.(424-426)CCG>CCA		zinc finger and BTB domain containing 45							6.0	9.0	8.0					19																	59028615		1784	3621	5405	SO:0001819	synonymous_variant	84878				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:59028615C>T	AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23715	protein-coding gene	gene with protein product			"""zinc finger protein 499"""	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.426G>A	19.37:g.59028615C>T			OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1035	ZBTB45_uc002qte.2_Silent_p.P142P|ZBTB45_uc002qtf.2_Silent_p.P142P	p.P142P	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)	2	718	-		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	142			Pro-rich.			Silent	SNP	ENST00000594051.1	37	c.426G>A	CCDS12984.1																																																																																				0.706	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1	NM_032792		3	13	0	0	0	0	3	13				
UBXN2A	165324	broad.mit.edu	37	2	24194165	24194165	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:24194165G>C	ENST00000309033.4	+	3	305	c.61G>C	c.(61-63)Gat>Cat	p.D21H	UBXN2A_ENST00000446425.2_3'UTR|UBXN2A_ENST00000535786.1_Missense_Mutation_p.D21H|UBXN2A_ENST00000404924.1_Missense_Mutation_p.D21H	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A	21					regulation of gene expression (GO:0010468)|regulation of protein catabolic process (GO:0042176)|regulation of protein ubiquitination (GO:0031396)	cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)				endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						AACAGGATCTGATAATCAACC	0.313																																						uc010exy.2		NA																	0					0						c.(61-63)GAT>CAT		UBX domain containing 4							135.0	145.0	142.0					2																	24194165		2203	4300	6503	SO:0001583	missense	165324							g.chr2:24194165G>C	BC037901	CCDS1704.1	2p24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000173960	ENSG00000173960		"""UBX domain containing"""	27265	protein-coding gene	gene with protein product			"""UBX domain containing 4"""	UBXD4		12477932	Standard	NM_181713		Approved		uc002ren.3	P68543	OTTHUMG00000125497	ENST00000309033.4:c.61G>C	2.37:g.24194165G>C	ENSP00000312107:p.Asp21His					UBXN2A_uc002rem.2_RNA|UBXN2A_uc002ren.2_Missense_Mutation_p.D21H|UBXN2A_uc010ykj.1_Missense_Mutation_p.D21H	p.D21H	NM_181713	NP_859064	P68543	UBX2A_HUMAN			4	529	+			21					A8K577|B7ZKP8|Q569G8	Missense_Mutation	SNP	ENST00000309033.4	37	c.61G>C	CCDS1704.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.181895	0.38511	.	.	ENSG00000173960	ENST00000404924;ENST00000309033;ENST00000535786	T;T;T	0.55052	0.66;0.66;0.54	4.53	1.68	0.24146	.	0.507684	0.21847	N	0.068222	T	0.33527	0.0866	N	0.19112	0.55	0.25563	N	0.986972	P;P	0.45569	0.861;0.664	B;B	0.40329	0.326;0.253	T	0.15178	-1.0446	10	0.46703	T	0.11	-0.2077	8.2071	0.31463	0.2708:0.0:0.7292:0.0	.	21;21	B7ZKP8;P68543	.;UBX2A_HUMAN	H	21	ENSP00000385525:D21H;ENSP00000312107:D21H;ENSP00000440533:D21H	ENSP00000312107:D21H	D	+	1	0	UBXN2A	24047669	0.993000	0.37304	0.995000	0.50966	0.974000	0.67602	0.366000	0.20365	0.234000	0.21139	0.644000	0.83932	GAT		0.313	UBXN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246824.2	NM_181713		8	102	0	0	0	0	8	102				
FOSL2	2355	broad.mit.edu	37	2	28626989	28626989	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:28626989A>G	ENST00000264716.4	+	2	981	c.118A>G	c.(118-120)Atg>Gtg	p.M40V	FOSL2_ENST00000379619.1_Missense_Mutation_p.M15V|FOSL2_ENST00000545753.1_Start_Codon_SNP_p.M1V|FOSL2_ENST00000460736.1_3'UTR	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	40					cell death (GO:0008219)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					CCGGGTAGATATGCCTGGCTC	0.463																																						uc002rma.2		NA																	0				ovary(2)|breast(1)	3						c.(118-120)ATG>GTG		FOS-like antigen 2							112.0	109.0	110.0					2																	28626989		2203	4300	6503	SO:0001583	missense	2355				cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:28626989A>G		CCDS1766.1	2p23.3	2013-01-10			ENSG00000075426	ENSG00000075426		"""basic leucine zipper proteins"""	3798	protein-coding gene	gene with protein product		601575					Standard	NM_005253		Approved	FRA2, FLJ23306	uc002rma.3	P15408	OTTHUMG00000097832	ENST00000264716.4:c.118A>G	2.37:g.28626989A>G	ENSP00000264716:p.Met40Val					FOSL2_uc010ymi.1_Missense_Mutation_p.M1V	p.M40V	NM_005253	NP_005244	P15408	FOSL2_HUMAN			2	927	+	Acute lymphoblastic leukemia(172;0.155)		40					B2RD58|B3KP27|B4DYV4|Q6FG46	Missense_Mutation	SNP	ENST00000264716.4	37	c.118A>G	CCDS1766.1	.	.	.	.	.	.	.	.	.	.	A	17.71	3.457088	0.63401	.	.	ENSG00000075426	ENST00000379619;ENST00000264716;ENST00000436647;ENST00000545753	T;T;T;T	0.78924	1.07;1.07;-1.21;-1.22	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.76564	0.4005	L	0.45228	1.405	0.80722	D	1	P	0.48764	0.915	P	0.47299	0.543	T	0.79654	-0.1713	10	0.66056	D	0.02	-19.2614	15.172	0.72881	1.0:0.0:0.0:0.0	.	40	P15408	FOSL2_HUMAN	V	15;40;1;1	ENSP00000368939:M15V;ENSP00000264716:M40V;ENSP00000396497:M1V;ENSP00000439303:M1V	ENSP00000264716:M40V	M	+	1	0	FOSL2	28480493	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.106000	0.57804	1.984000	0.57885	0.455000	0.32223	ATG		0.463	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215116.2	NM_005253		28	83	0	0	0	0	28	83				
RTN4	57142	broad.mit.edu	37	2	55252582	55252582	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:55252582A>C	ENST00000337526.6	-	3	2896	c.2653T>G	c.(2653-2655)Tta>Gta	p.L885V	RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.L679V|RTN4_ENST00000394611.2_Missense_Mutation_p.L679V|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000405240.1_Missense_Mutation_p.L679V|RTN4_ENST00000404909.1_Missense_Mutation_p.L679V|RTN4_ENST00000354474.6_Missense_Mutation_p.L653V	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	885					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TCCCTGGCTAATTTAGAAAAT	0.388																																						uc002rye.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(2653-2655)TTA>GTA		reticulon 4 isoform A							45.0	46.0	46.0					2																	55252582		2200	4296	6496	SO:0001583	missense	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55252582A>C	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.2653T>G	2.37:g.55252582A>C	ENSP00000337838:p.Leu885Val					RTN4_uc002ryd.2_Missense_Mutation_p.L679V|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron	p.L885V	NM_020532	NP_065393	Q9NQC3	RTN4_HUMAN			3	2951	-			885			Cytoplasmic (Potential).		O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	37	c.2653T>G	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	A	10.22	1.290299	0.23478	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.18960	2.2;2.2;2.18;2.2;2.2;2.21	5.51	-3.47	0.04753	.	0.770342	0.11042	N	0.605945	T	0.15955	0.0384	M	0.65975	2.015	0.09310	N	1	B	0.30406	0.278	B	0.27887	0.084	T	0.28267	-1.0049	10	0.51188	T	0.08	2.1098	1.1304	0.01744	0.4417:0.2211:0.1241:0.2131	.	885	Q9NQC3	RTN4_HUMAN	V	679;679;885;679;679;653	ENSP00000384471:L679V;ENSP00000349944:L679V;ENSP00000337838:L885V;ENSP00000378109:L679V;ENSP00000385650:L679V;ENSP00000346465:L653V	ENSP00000337838:L885V	L	-	1	2	RTN4	55106086	0.000000	0.05858	0.000000	0.03702	0.361000	0.29550	0.505000	0.22642	-0.534000	0.06315	0.533000	0.62120	TTA		0.388	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			34	19	0	0	0	0	34	19				
MCM6	4175	broad.mit.edu	37	2	136614422	136614422	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:136614422G>T	ENST00000264156.2	-	11	1562	c.1502C>A	c.(1501-1503)gCa>gAa	p.A501E	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	501	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		GTTTGCTGCTGCCAAAATGGA	0.383																																					Ovarian(196;141 2104 8848 24991 25939)	uc002tuw.2		NA																	0					0						c.(1501-1503)GCA>GAA		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						100.0	95.0	97.0					2																	136614422		2203	4300	6503	SO:0001583	missense	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136614422G>T		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.1502C>A	2.37:g.136614422G>T	ENSP00000264156:p.Ala501Glu						p.A501E	NM_005915	NP_005906	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	11	1578	-			501			MCM.		B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	c.1502C>A	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652466	0.88056	.	.	ENSG00000076003	ENST00000264156	T	0.12672	2.66	5.87	4.98	0.66077	.	0.047338	0.85682	D	0.000000	T	0.60274	0.2256	H	0.99650	4.68	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81057	-0.1105	10	0.87932	D	0	-15.1003	16.2691	0.82606	0.0:0.0:0.8664:0.1336	.	501	Q14566	MCM6_HUMAN	E	501	ENSP00000264156:A501E	ENSP00000264156:A501E	A	-	2	0	MCM6	136330892	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	9.694000	0.98686	1.443000	0.47586	0.591000	0.81541	GCA		0.383	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		16	31	1	0	0.000566183	0.000607833	16	31				
EPC2	26122	broad.mit.edu	37	2	149501231	149501231	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:149501231T>G	ENST00000258484.6	+	3	388	c.354T>G	c.(352-354)gaT>gaG	p.D118E		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	118					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		ATGATATGGATTCAGAAGATG	0.294																																						uc010zbt.1		NA																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(352-354)GAT>GAG		enhancer of polycomb homolog 2							48.0	46.0	47.0					2																	149501231		1810	4069	5879	SO:0001583	missense	26122				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:149501231T>G	AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.354T>G	2.37:g.149501231T>G	ENSP00000258484:p.Asp118Glu						p.D118E	NM_015630	NP_056445	Q52LR7	EPC2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0516)	3	381	+			118					B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Missense_Mutation	SNP	ENST00000258484.6	37	c.354T>G	CCDS46422.1	.	.	.	.	.	.	.	.	.	.	T	18.94	3.730546	0.69074	.	.	ENSG00000135999	ENST00000457184;ENST00000258484;ENST00000397424	T;T;T	0.69561	-0.41;-0.41;-0.41	5.17	0.0227	0.14134	Enhancer of polycomb-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.68467	0.3004	M	0.93150	3.385	0.80722	D	1	B	0.10296	0.003	B	0.10450	0.005	T	0.63778	-0.6560	10	0.87932	D	0	-5.426	4.8601	0.13579	0.0:0.4422:0.183:0.3748	.	118	Q52LR7	EPC2_HUMAN	E	94;118;47	ENSP00000415543:D94E;ENSP00000258484:D118E;ENSP00000380569:D47E	ENSP00000258484:D118E	D	+	3	2	EPC2	149217701	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	0.767000	0.26575	0.059000	0.16252	-0.449000	0.05564	GAT		0.294	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	NM_015630		9	14	0	0	0	0	9	14				
KIF5C	3800	broad.mit.edu	37	2	149868127	149868127	+	Silent	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:149868127G>A	ENST00000435030.1	+	25	3179	c.2811G>A	c.(2809-2811)acG>acA	p.T937T	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000397413.1_Silent_p.T705T|KIF5C_ENST00000414838.2_Silent_p.T842T			O60282	KIF5C_HUMAN	kinesin family member 5C	937	Globular.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CATCTCCAACGGCCGTCCATG	0.498																																						uc010zbu.1		NA																	0				skin(1)	1						c.(2809-2811)ACG>ACA		kinesin family member 5C							58.0	61.0	60.0					2																	149868127		1879	4114	5993	SO:0001819	synonymous_variant	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149868127G>A	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.2811G>A	2.37:g.149868127G>A						KIF5C_uc002tws.1_RNA|KIF5C_uc002twu.1_Silent_p.T219T	p.T937T	NM_004522	NP_004513	O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	25	3179	+			937			Globular.		O95079|Q2YDC5	Silent	SNP	ENST00000435030.1	37	c.2811G>A																																																																																					0.498	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		18	45	0	0	0	0	18	45				
SCN1A	6323	broad.mit.edu	37	2	166848067	166848067	+	Silent	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:166848067G>A	ENST00000303395.4	-	26	5717	c.5718C>T	c.(5716-5718)atC>atT	p.I1906I	AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Silent_p.I1878I|SCN1A_ENST00000423058.2_Silent_p.I1906I|SCN1A_ENST00000375405.3_Silent_p.I1895I|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1906					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAGTAGTAGTGATTGGCTGAT	0.443																																						uc010zcz.1		NA																	0				ovary(6)|skin(6)|large_intestine(1)	13						c.(5683-5685)ATC>ATT		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						100.0	95.0	97.0					2																	166848067		2203	4300	6503	SO:0001819	synonymous_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166848067G>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5718C>T	2.37:g.166848067G>A							p.I1895I	NM_006920	NP_008851	P35498	SCN1A_HUMAN			26	5703	-			1906					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	c.5685C>T	CCDS54413.1																																																																																				0.443	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		11	118	0	0	0	0	11	118				
XIRP2	129446	broad.mit.edu	37	2	168101809	168101809	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:168101809G>T	ENST00000409195.1	+	9	3996	c.3907G>T	c.(3907-3909)Gaa>Taa	p.E1303*	XIRP2_ENST00000409273.1_Nonsense_Mutation_p.E1081*|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.E1303*|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1128					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AATTACTGAAGAAGTAATACA	0.383																																						uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(3907-3909)GAA>TAA		xin actin-binding repeat containing 2 isoform 1							79.0	74.0	76.0					2																	168101809		1845	4092	5937	SO:0001587	stop_gained	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168101809G>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.3907G>T	2.37:g.168101809G>T	ENSP00000386840:p.Glu1303*					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Nonsense_Mutation_p.E1128*|XIRP2_uc010fpq.2_Nonsense_Mutation_p.E1081*|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.E1303*	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	3925	+			1128					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Nonsense_Mutation	SNP	ENST00000409195.1	37	c.3907G>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	41	9.038330	0.99044	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	.	.	.	5.78	5.78	0.91487	.	0.102783	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-14.9965	15.5118	0.75789	0.0:0.0:0.8611:0.1389	.	.	.	.	X	1303;1303;1081	.	ENSP00000295237:E1303X	E	+	1	0	XIRP2	167810055	1.000000	0.71417	0.993000	0.49108	0.607000	0.37147	6.400000	0.73252	2.744000	0.94065	0.563000	0.77884	GAA		0.383	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		17	65	1	0	1.57e-10	1.81e-10	17	65				
XIRP2	129446	broad.mit.edu	37	2	168105100	168105100	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:168105100G>A	ENST00000409195.1	+	9	7287	c.7198G>A	c.(7198-7200)Gaa>Aaa	p.E2400K	XIRP2_ENST00000409273.1_Missense_Mutation_p.E2178K|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2400K|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2225					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTCCCAAAAAGAAGCCTCGAA	0.473																																						uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(7198-7200)GAA>AAA		xin actin-binding repeat containing 2 isoform 1							58.0	61.0	60.0					2																	168105100		1915	4124	6039	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168105100G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7198G>A	2.37:g.168105100G>A	ENSP00000386840:p.Glu2400Lys					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E2225K|XIRP2_uc010fpq.2_Missense_Mutation_p.E2178K|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	p.E2400K	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	7216	+			2225					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.7198G>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814095	0.70912	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02472	4.28;4.28;4.28	5.67	3.8	0.43715	.	0.685631	0.14727	N	0.301988	T	0.04092	0.0114	M	0.63428	1.95	0.33069	D	0.535146	P;P;P	0.41848	0.483;0.617;0.763	B;B;B	0.33960	0.084;0.173;0.173	T	0.26780	-1.0093	10	0.42905	T	0.14	-10.2533	11.6671	0.51381	0.0:0.142:0.7237:0.1343	.	2225;2225;2178	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	K	2400;2400;2178	ENSP00000386840:E2400K;ENSP00000295237:E2400K;ENSP00000387255:E2178K	ENSP00000295237:E2400K	E	+	1	0	XIRP2	167813346	0.003000	0.15002	0.976000	0.42696	0.544000	0.35116	0.017000	0.13399	1.388000	0.46506	0.655000	0.94253	GAA		0.473	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		4	102	0	0	0	0	4	102				
LRP2	4036	broad.mit.edu	37	2	170065990	170065990	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:170065990G>A	ENST00000263816.3	-	38	6727	c.6442C>T	c.(6442-6444)Cgg>Tgg	p.R2148W		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2148					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GCAATACCCCGGACTCCATTT	0.398																																						uc002ues.2		NA																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(6442-6444)CGG>TGG		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						174.0	170.0	172.0					2																	170065990		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170065990G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.6442C>T	2.37:g.170065990G>A	ENSP00000263816:p.Arg2148Trp						p.R2148W	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	38	6655	-			2148			LDL-receptor class B 20.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.6442C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.254085	0.80135	.	.	ENSG00000081479	ENST00000263816	D	0.91295	-2.82	5.82	5.82	0.92795	Six-bladed beta-propeller, TolB-like (1);	0.108003	0.64402	D	0.000005	D	0.96364	0.8814	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96438	0.9324	10	0.87932	D	0	.	20.1092	0.97906	0.0:0.0:1.0:0.0	.	2148	P98164	LRP2_HUMAN	W	2148	ENSP00000263816:R2148W	ENSP00000263816:R2148W	R	-	1	2	LRP2	169774236	1.000000	0.71417	0.952000	0.39060	0.779000	0.44077	3.190000	0.50973	2.745000	0.94114	0.655000	0.94253	CGG		0.398	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		19	124	0	0	0	0	19	124				
KIAA1715	80856	broad.mit.edu	37	2	176794907	176794907	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:176794907G>A	ENST00000272748.4	-	13	1322	c.1075C>T	c.(1075-1077)Ctt>Ttt	p.L359F	KIAA1715_ENST00000535310.1_3'UTR|KIAA1715_ENST00000544803.1_Missense_Mutation_p.L390F	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	359					blood coagulation (GO:0007596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|limb development (GO:0060173)|regulation of chondrocyte differentiation (GO:0032330)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			TTATCATCAAGAACATCGTGT	0.353																																						uc002ukc.1		NA																	0				ovary(2)|skin(1)	3						c.(1075-1077)CTT>TTT		Lunapark							159.0	147.0	151.0					2																	176794907		2203	4300	6503	SO:0001583	missense	80856					integral to membrane	protein binding	g.chr2:176794907G>A	AB051502	CCDS33332.1	2q31	2014-06-27			ENSG00000144320	ENSG00000144320			21610	protein-coding gene	gene with protein product	"""lunapark"", ""limb and neural patterns"""	610236				11214970, 22729086	Standard	NM_030650		Approved	ulnaless, Ul, LNP1, LNP	uc002ukc.1	Q9C0E8	OTTHUMG00000154112	ENST00000272748.4:c.1075C>T	2.37:g.176794907G>A	ENSP00000272748:p.Leu359Phe					KIAA1715_uc010zer.1_Missense_Mutation_p.L390F|KIAA1715_uc010fqw.1_Missense_Mutation_p.L425F|KIAA1715_uc010zes.1_Missense_Mutation_p.L361F|KIAA1715_uc002ukd.1_Missense_Mutation_p.L236F|KIAA1715_uc010zet.1_RNA	p.L359F	NM_030650	NP_085153	Q9C0E8	LNP_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0793)		13	1268	-			359			Cytoplasmic (Potential).		B7ZLA8|Q2M2V8|Q2YD99|Q658W8|Q8N5V9|Q96MS5	Missense_Mutation	SNP	ENST00000272748.4	37	c.1075C>T	CCDS33332.1	.	.	.	.	.	.	.	.	.	.	g	4.958	0.177872	0.09443	.	.	ENSG00000144320	ENST00000272748;ENST00000536291;ENST00000409660;ENST00000544803	.	.	.	5.58	4.7	0.59300	.	0.335796	0.29126	N	0.013077	T	0.50888	0.1642	L	0.51422	1.61	0.80722	D	1	P;B;P;P	0.38078	0.617;0.294;0.483;0.61	B;B;B;B	0.37144	0.242;0.047;0.122;0.154	T	0.56232	-0.8013	9	0.87932	D	0	-12.792	10.3255	0.43790	0.0761:0.1448:0.7791:0.0	.	361;390;356;359	F5H2Y7;B7ZLA8;B7ZLA9;Q9C0E8	.;.;.;LNP_HUMAN	F	359;361;236;390	.	ENSP00000272748:L359F	L	-	1	0	KIAA1715	176503153	0.220000	0.23631	0.998000	0.56505	0.963000	0.63663	1.984000	0.40658	1.500000	0.48636	0.598000	0.82781	CTT		0.353	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333949.3	XM_042834		4	167	0	0	0	0	4	167				
OSBPL6	114880	broad.mit.edu	37	2	179213991	179213991	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:179213991C>T	ENST00000190611.4	+	12	1404	c.1028C>T	c.(1027-1029)tCc>tTc	p.S343F	OSBPL6_ENST00000359685.3_Missense_Mutation_p.S343F|OSBPL6_ENST00000357080.4_Missense_Mutation_p.S312F|OSBPL6_ENST00000392505.2_Missense_Mutation_p.S368F|OSBPL6_ENST00000315022.2_Missense_Mutation_p.S347F|OSBPL6_ENST00000409631.1_Missense_Mutation_p.S343F|OSBPL6_ENST00000409045.3_Missense_Mutation_p.S312F	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	343					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CGCTTGCATTCCTCCAACCCC	0.438																																						uc002ulx.2		NA																	0				pancreas(1)	1						c.(1027-1029)TCC>TTC		oxysterol-binding protein-like protein 6 isoform							259.0	247.0	251.0					2																	179213991		2203	4300	6503	SO:0001583	missense	114880				lipid transport		lipid binding	g.chr2:179213991C>T	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.1028C>T	2.37:g.179213991C>T	ENSP00000190611:p.Ser343Phe					OSBPL6_uc002ulw.2_Missense_Mutation_p.S312F|OSBPL6_uc002uly.2_Missense_Mutation_p.S368F|OSBPL6_uc010zfe.1_Missense_Mutation_p.S312F|OSBPL6_uc002ulz.2_Missense_Mutation_p.S343F|OSBPL6_uc002uma.2_Missense_Mutation_p.S347F	p.S343F	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		12	1406	+			343					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	c.1028C>T	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120074	0.77323	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000361154;ENST00000357080;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T;T	0.15017	2.6;2.46;2.57;2.64;2.54;2.46;2.61	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.36026	0.0952	L	0.50333	1.59	0.80722	D	1	P;D;P;D;P;D	0.60160	0.904;0.987;0.729;0.976;0.877;0.98	P;P;P;P;P;P	0.61003	0.789;0.882;0.555;0.882;0.548;0.837	T	0.03651	-1.1016	10	0.87932	D	0	-10.3876	19.3979	0.94614	0.0:1.0:0.0:0.0	.	312;347;343;368;343;312	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3;Q86V84	.;.;.;.;OSBL6_HUMAN;.	F	368;343;128;312;312;343;343;347	ENSP00000376293:S368F;ENSP00000352713:S343F;ENSP00000349591:S312F;ENSP00000387248:S312F;ENSP00000190611:S343F;ENSP00000386885:S343F;ENSP00000318723:S347F	ENSP00000190611:S343F	S	+	2	0	OSBPL6	178922237	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.298000	0.78815	2.595000	0.87683	0.655000	0.94253	TCC		0.438	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		17	271	0	0	0	0	17	271				
TTN	7273	broad.mit.edu	37	2	179403855	179403855	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:179403855C>T	ENST00000591111.1	-	303	94108	c.93884G>A	c.(93883-93885)cGc>cAc	p.R31295H	TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589842.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R23996H|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R23871H|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R24063H|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R32936H|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R30368H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31295	Fibronectin type-III 128. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTCTCTTTGCGTTCGATGTA	0.498																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(91102-91104)CGC>CAC		titin isoform N2-A							212.0	209.0	210.0					2																	179403855		2096	4227	6323	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179403855C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.93884G>A	2.37:g.179403855C>T	ENSP00000465570:p.Arg31295His					uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R24063H|TTN_uc010zfi.1_Missense_Mutation_p.R23996H|TTN_uc010zfj.1_Missense_Mutation_p.R23871H	p.R30368H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		302	91327	-			31295					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.91103G>A		.	.	.	.	.	.	.	.	.	.	C	23.3	4.402394	0.83230	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	6.05	6.05	0.98169	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71281	0.3321	L	0.53671	1.685	0.58432	D	0.999993	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.70784	-0.4778	9	0.87932	D	0	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	23871;23996;24063;31295	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	30368;23871;24063;23996;23868	ENSP00000343764:R30368H;ENSP00000434586:R23871H;ENSP00000340554:R24063H;ENSP00000352154:R23996H	ENSP00000340554:R24063H	R	-	2	0	TTN	179112101	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.023000	0.70848	2.878000	0.98634	0.650000	0.86243	CGC		0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	114	0	0	0	0	16	114				
TTN	7273	broad.mit.edu	37	2	179544334	179544334	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:179544334G>A	ENST00000591111.1	-	139	32929	c.32705C>T	c.(32704-32706)cCg>cTg	p.P10902L	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P11219L|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P9975L			Q8WZ42	TITIN_HUMAN	titin	11673	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTTTTGCCGGTGGAGCTTC	0.418																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(29923-29925)CCG>CTG		titin isoform N2-A							87.0	82.0	84.0					2																	179544334		1866	4088	5954	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179544334G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.32705C>T	2.37:g.179544334G>A	ENSP00000465570:p.Pro10902Leu					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6636L|TTN_uc010fre.1_Intron|TTN_uc002una.1_RNA|TTN_uc010frf.1_RNA	p.P9975L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		138	30148	-			10902					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.29924C>T		.	.	.	.	.	.	.	.	.	.	G	13.72	2.321020	0.41096	.	.	ENSG00000155657	ENST00000342992	T	0.72835	-0.69	5.93	5.93	0.95920	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.68943	0.3056	M	0.89095	3.005	0.80722	D	1	P	0.48998	0.918	B	0.26864	0.074	T	0.78661	-0.2117	9	0.87932	D	0	.	13.5241	0.61584	0.0709:0.0:0.9291:0.0	.	10902	Q8WZ42	TITIN_HUMAN	L	9975	ENSP00000343764:P9975L	ENSP00000343764:P9975L	P	-	2	0	TTN	179252579	0.858000	0.29795	1.000000	0.80357	0.872000	0.50106	3.030000	0.49720	2.805000	0.96524	0.655000	0.94253	CCG		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	31	0	0	0	0	8	31				
NCKAP1	10787	broad.mit.edu	37	2	183850902	183850902	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:183850902T>C	ENST00000361354.4	-	10	1373	c.1001A>G	c.(1000-1002)cAt>cGt	p.H334R	NCKAP1_ENST00000360982.2_Missense_Mutation_p.H340R	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	334					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TACTCACGCATGTGACACGGC	0.318																																						uc002upc.2		NA																	0				ovary(2)	2						c.(1000-1002)CAT>CGT		NCK-associated protein 1 isoform 1							72.0	73.0	72.0					2																	183850902		2203	4300	6503	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183850902T>C	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.1001A>G	2.37:g.183850902T>C	ENSP00000355348:p.His334Arg					NCKAP1_uc002upb.2_Missense_Mutation_p.H340R	p.H334R	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		10	1403	-			334					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.1001A>G	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	T	16.98	3.272154	0.59649	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.28895	1.59;1.59	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.28234	0.0697	N	0.24115	0.695	0.80722	D	1	P;P	0.47034	0.889;0.865	P;B	0.47015	0.534;0.399	T	0.02813	-1.1107	10	0.38643	T	0.18	.	14.5417	0.67999	0.0:0.0:0.0:1.0	.	334;340	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	R	334;340	ENSP00000355348:H334R;ENSP00000354251:H340R	ENSP00000354251:H340R	H	-	2	0	NCKAP1	183559147	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	7.446000	0.80609	2.037000	0.60232	0.402000	0.26972	CAT		0.318	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		6	12	0	0	0	0	6	12				
ERBB4	2066	broad.mit.edu	37	2	212488717	212488717	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:212488717C>A	ENST00000342788.4	-	18	2442	c.2132G>T	c.(2131-2133)cGt>cTt	p.R711L	ERBB4_ENST00000436443.1_Missense_Mutation_p.R711L|ERBB4_ENST00000402597.1_Missense_Mutation_p.R701L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	711					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	TTTCAAAATACGAAGTTGAGC	0.418										TSP Lung(8;0.080)																												uc002veg.1		NA																	0				lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(2131-2133)CGT>CTT		v-erb-a erythroblastic leukemia viral oncogene							101.0	99.0	100.0					2																	212488717		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212488717C>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2132G>T	2.37:g.212488717C>A	ENSP00000342235:p.Arg711Leu	TSP Lung(8;0.080)				ERBB4_uc002veh.1_Missense_Mutation_p.R711L|ERBB4_uc010zji.1_Missense_Mutation_p.R701L|ERBB4_uc010zjj.1_Missense_Mutation_p.R701L|ERBB4_uc010fut.1_Missense_Mutation_p.R711L	p.R711L	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	18	2230	-		Renal(323;0.06)|Lung NSC(271;0.197)	711			Cytoplasmic (Potential).		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.2132G>T	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.491149|5.491149	0.96339|0.96339	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597|ENST00000260943	T;T;T|.	0.76839|.	-1.05;-1.05;-1.05|.	5.74|5.74	5.74|5.74	0.90152|0.90152	Protein kinase-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78666|0.78666	0.4319|0.4319	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.62365|.	0.99;0.991;0.982;0.976|.	P;P;B;B|.	0.59221|.	0.664;0.854;0.43;0.394|.	T|T	0.77651|0.77651	-0.2508|-0.2508	9|5	.|.	.|.	.|.	.|.	19.9351|19.9351	0.97137|0.97137	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	701;701;711;711|.	Q15303-4;Q15303-2;Q15303-3;Q15303|.	.;.;.;ERBB4_HUMAN|.	L|L	711;711;701|701	ENSP00000342235:R711L;ENSP00000403204:R711L;ENSP00000385565:R701L|.	.|.	R|V	-|-	2|1	0|0	ERBB4|ERBB4	212196962|212196962	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.992000|0.992000	0.81027|0.81027	7.794000|7.794000	0.85869|0.85869	2.703000|2.703000	0.92315|0.92315	0.655000|0.655000	0.94253|0.94253	CGT|GTA		0.418	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		4	57	1	0	0.00909568	0.00937678	4	57				
ABCA12	26154	broad.mit.edu	37	2	215854110	215854110	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:215854110G>T	ENST00000272895.7	-	26	3991	c.3772C>A	c.(3772-3774)Cta>Ata	p.L1258I	ABCA12_ENST00000389661.4_Missense_Mutation_p.L940I	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1258					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAGTCAGCTAGGATTAGACAG	0.423																																					Ovarian(66;664 1488 5121 34295)	uc002vew.2		NA																	0				ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11						c.(3772-3774)CTA>ATA		ATP-binding cassette, sub-family A, member 12							95.0	92.0	93.0					2																	215854110		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215854110G>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.3772C>A	2.37:g.215854110G>T	ENSP00000272895:p.Leu1258Ile					ABCA12_uc002vev.2_Missense_Mutation_p.L940I|ABCA12_uc010zjn.1_Missense_Mutation_p.L185I	p.L1258I	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	26	3992	-		Renal(323;0.127)	1258			Helical; (Potential).		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.3772C>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392411	0.62066	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.87729	-2.29;-2.29	5.11	2.29	0.28610	.	0.000000	0.51477	D	0.000094	D	0.89836	0.6830	L	0.60957	1.885	0.80722	D	1	D;D	0.76494	0.999;0.994	D;D	0.70935	0.969;0.971	D	0.88302	0.2950	10	0.72032	D	0.01	.	8.0066	0.30329	0.3852:0.0:0.6148:0.0	.	1258;940	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	I	1258;940	ENSP00000272895:L1258I;ENSP00000374312:L940I	ENSP00000272895:L1258I	L	-	1	2	ABCA12	215562355	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	0.891000	0.28309	0.669000	0.31146	0.591000	0.81541	CTA		0.423	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		9	68	1	0	1.13e-05	1.25e-05	9	68				
TRIP12	9320	broad.mit.edu	37	2	230693917	230693917	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:230693917C>T	ENST00000283943.5	-	7	1476	c.1298G>A	c.(1297-1299)aGt>aAt	p.S433N	TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389045.3_Missense_Mutation_p.S136N|TRIP12_ENST00000389044.4_Missense_Mutation_p.S481N	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	433					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ACTAGCTCCACTTCCAATTGT	0.393																																						uc002vpw.1		NA																	0				ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9						c.(1297-1299)AGT>AAT		thyroid hormone receptor interactor 12							69.0	65.0	66.0					2																	230693917		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230693917C>T	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.1298G>A	2.37:g.230693917C>T	ENSP00000283943:p.Ser433Asn					TRIP12_uc002vpx.1_Missense_Mutation_p.S481N|TRIP12_uc002vpy.1_Missense_Mutation_p.S136N|TRIP12_uc010zlz.1_Intron|TRIP12_uc010fxh.1_Missense_Mutation_p.S439N	p.S433N	NM_004238	NP_004229	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	7	1407	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	433					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.1298G>A	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.404342	0.42613	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.54071	0.59;1.05;0.65	5.58	3.76	0.43208	.	0.077768	0.85682	D	0.000000	T	0.60560	0.2278	L	0.52905	1.665	0.80722	D	1	D;B;B;B	0.54601	0.967;0.0;0.0;0.064	P;B;B;B	0.57776	0.827;0.001;0.001;0.031	T	0.58323	-0.7656	10	0.44086	T	0.13	.	11.1678	0.48554	0.0:0.8017:0.1289:0.0693	.	439;136;481;433	D4HL82;Q14CF1;Q14CA3;Q14669	.;.;.;TRIPC_HUMAN	N	433;136;481	ENSP00000283943:S433N;ENSP00000373697:S136N;ENSP00000373696:S481N	ENSP00000283943:S433N	S	-	2	0	TRIP12	230402161	1.000000	0.71417	0.956000	0.39512	0.986000	0.74619	7.304000	0.78882	0.702000	0.31825	0.557000	0.71058	AGT		0.393	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		7	36	0	0	0	0	7	36				
PAK7	57144	broad.mit.edu	37	20	9561038	9561038	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr20:9561038C>G	ENST00000378429.3	-	5	1290	c.744G>C	c.(742-744)gaG>gaC	p.E248D	PAK7_ENST00000378423.1_Missense_Mutation_p.E248D|PAK7_ENST00000353224.5_Missense_Mutation_p.E248D|RP5-986I17.2_ENST00000428769.1_RNA	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	248	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ACGCCAGGCTCTCCTTGGAGC	0.537																																						uc002wnl.2		NA																	0				lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23						c.(742-744)GAG>GAC		p21-activated kinase 7							77.0	74.0	75.0					20																	9561038		2203	4300	6503	SO:0001583	missense	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9561038C>G	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.744G>C	20.37:g.9561038C>G	ENSP00000367686:p.Glu248Asp					PAK7_uc002wnk.2_Missense_Mutation_p.E248D|PAK7_uc002wnj.2_Missense_Mutation_p.E248D|PAK7_uc010gby.1_Missense_Mutation_p.E248D	p.E248D	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		5	1289	-			248			Linker.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	c.744G>C	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.183787	0.38609	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.31769	1.48;1.48;1.48	5.25	2.82	0.32997	.	0.099089	0.64402	D	0.000002	T	0.20536	0.0494	L	0.38531	1.155	0.42653	D	0.993455	B;B	0.26445	0.149;0.015	B;B	0.20384	0.029;0.01	T	0.05699	-1.0869	9	.	.	.	.	9.1039	0.36685	0.0:0.6934:0.0:0.3066	.	248;248	B0AZM9;Q9P286	.;PAK7_HUMAN	D	248;248;248;196	ENSP00000367686:E248D;ENSP00000322957:E248D;ENSP00000367679:E248D	.	E	-	3	2	PAK7	9509038	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	1.476000	0.35420	0.688000	0.31529	0.544000	0.68410	GAG		0.537	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			7	68	0	0	0	0	7	68				
RBL1	5933	broad.mit.edu	37	20	35717460	35717460	+	Silent	SNP	C	C	T	rs573841274		TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr20:35717460C>T	ENST00000373664.3	-	2	288	c.222G>A	c.(220-222)acG>acA	p.T74T	RBL1_ENST00000344359.3_Silent_p.T74T	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	74					chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CCTTTCCAACCGTGGGAATAA	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		14841	0.0		0.0	False		,,,				2504	0.001					uc002xgi.2		NA																	0				lung(5)|skin(3)|ovary(2)	10						c.(220-222)ACG>ACA		retinoblastoma-like protein 1 isoform a							108.0	95.0	100.0					20																	35717460		2203	4300	6503	SO:0001819	synonymous_variant	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35717460C>T	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.222G>A	20.37:g.35717460C>T						RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Silent_p.T74T|RBL1_uc010gfv.1_RNA	p.T74T	NM_002895	NP_002886	P28749	RBL1_HUMAN			2	301	-		Myeloproliferative disorder(115;0.00878)	74					A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Silent	SNP	ENST00000373664.3	37	c.222G>A	CCDS13289.1																																																																																				0.383	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		12	76	0	0	0	0	12	76				
LBP	3929	broad.mit.edu	37	20	36992694	36992694	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr20:36992694G>T	ENST00000217407.2	+	7	879	c.718G>T	c.(718-720)Gcc>Tcc	p.A240S		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	240					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TCGGGCAACAGCCCAGATGCT	0.562																																						uc002xic.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(718-720)GCC>TCC		lipopolysaccharide-binding protein precursor							69.0	67.0	68.0					20																	36992694		2203	4300	6503	SO:0001583	missense	3929				acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	g.chr20:36992694G>T		CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"""BPI fold containing"""	6517	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 2"""	151990	"""lipopolysaccharide-binding protein"""			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.718G>T	20.37:g.36992694G>T	ENSP00000217407:p.Ala240Ser						p.A240S	NM_004139	NP_004130	P18428	LBP_HUMAN			7	753	+		Myeloproliferative disorder(115;0.00878)	240					B2R938|O43438|Q92672|Q9H403|Q9UD66	Missense_Mutation	SNP	ENST00000217407.2	37	c.718G>T	CCDS13304.1	.	.	.	.	.	.	.	.	.	.	G	8.156	0.788465	0.16258	.	.	ENSG00000129988	ENST00000217407;ENST00000538599	T	0.04809	3.55	5.2	1.88	0.25563	Lipid-binding serum glycoprotein, N-terminal (1);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.626364	0.15567	N	0.255635	T	0.06005	0.0156	L	0.57536	1.79	0.09310	N	1	B	0.21688	0.059	B	0.25291	0.059	T	0.38134	-0.9675	10	0.18710	T	0.47	-9.9507	9.0782	0.36536	0.0:0.1325:0.5689:0.2985	.	240	P18428	LBP_HUMAN	S	240	ENSP00000217407:A240S	ENSP00000217407:A240S	A	+	1	0	LBP	36426108	0.014000	0.17966	0.058000	0.19502	0.463000	0.32649	1.903000	0.39858	0.731000	0.32448	-0.293000	0.09583	GCC		0.562	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139		6	44	1	0	0.00198382	0.00207723	6	44				
B4GALT5	9334	broad.mit.edu	37	20	48263615	48263615	+	Splice_Site	SNP	T	T	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr20:48263615T>C	ENST00000371711.4	-	3	438	c.251A>G	c.(250-252)gAt>gGt	p.D84G		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	84					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			AAGAGGATAATCTAGGGAGGT	0.413																																						uc002xuu.3		NA																	0				ovary(1)	1						c.(250-252)GAT>GGT		UDP-Gal:betaGlcNAc beta 1,4-							147.0	140.0	143.0					20																	48263615		2203	4300	6503	SO:0001630	splice_region_variant	9334				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding	g.chr20:48263615T>C	AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"""Beta 4-glycosyltransferases"""	928	protein-coding gene	gene with protein product	"""beta4-GalT IV"""	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.251-1A>G	20.37:g.48263615T>C							p.D84G	NM_004776	NP_004767	O43286	B4GT5_HUMAN	BRCA - Breast invasive adenocarcinoma(9;2.51e-06)		3	445	-			84			Lumenal (Potential).		E1P625|Q2M394|Q9UJQ8	Missense_Mutation	SNP	ENST00000371711.4	37	c.251A>G	CCDS13420.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.214110	0.79352	.	.	ENSG00000158470	ENST00000371711	T	0.51574	0.7	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.57592	0.2064	M	0.68593	2.085	0.80722	D	1	P	0.48230	0.907	P	0.49953	0.627	T	0.59616	-0.7421	10	0.46703	T	0.11	.	15.9343	0.79691	0.0:0.0:0.0:1.0	.	84	O43286	B4GT5_HUMAN	G	84	ENSP00000360776:D84G	ENSP00000360776:D84G	D	-	2	0	B4GALT5	47697022	1.000000	0.71417	1.000000	0.80357	0.503000	0.33858	7.370000	0.79589	2.225000	0.72522	0.455000	0.32223	GAT		0.413	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080543.3	NM_004776	Missense_Mutation	14	49	0	0	0	0	14	49				
ZNF512B	57473	broad.mit.edu	37	20	62626765	62626765	+	Intron	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr20:62626765G>T	ENST00000450537.1	-	2	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Missense_Mutation_p.G234V			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					ATGACACCTGGCACAGGTGAG	0.527																																						uc002yho.2		NA																	0				ovary(2)	2						c.(700-702)GGC>GTC		PRP6 pre-mRNA processing factor 6 homolog							125.0	104.0	111.0					20																	62626765		2203	4300	6503	SO:0001627	intron_variant	24148				assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity	g.chr20:62626765G>T	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.5-27457C>A	20.37:g.62626765G>T						PRPF6_uc002yhp.2_Missense_Mutation_p.G234V	p.G234V	NM_012469	NP_036601	O94906	PRP6_HUMAN			6	869	+	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)		234					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.701G>T	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305594	0.40795	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.77358	-1.06;-1.09	5.1	5.1	0.69264	.	0.051410	0.85682	D	0.000000	D	0.82572	0.5066	M	0.91196	3.185	0.80722	D	1	B;B	0.25105	0.118;0.008	B;B	0.29942	0.109;0.004	T	0.80674	-0.1277	10	0.11485	T	0.65	.	18.533	0.90999	0.0:0.0:1.0:0.0	.	234;234	O94906-2;O94906	.;PRP6_HUMAN	V	234	ENSP00000266079:G234V;ENSP00000446216:G234V	ENSP00000266079:G234V	G	+	2	0	PRPF6	62097209	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.237000	0.95368	2.382000	0.81193	0.650000	0.86243	GGC		0.527	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		11	51	1	0	5.51e-06	6.11e-06	11	51				
ZBTB21	49854	broad.mit.edu	37	21	43413679	43413679	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr21:43413679G>A	ENST00000310826.5	-	3	709	c.526C>T	c.(526-528)Ccc>Tcc	p.P176S	ZBTB21_ENST00000398511.3_Missense_Mutation_p.P176S|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398499.1_Missense_Mutation_p.P176S|ZBTB21_ENST00000398505.3_Missense_Mutation_p.P176S	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	176					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										CTAGGAGAGGGCCGGGAAGTA	0.418																																						uc002zab.3		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(526-528)CCC>TCC		zinc finger protein 295 isoform L							190.0	172.0	178.0					21																	43413679		2203	4300	6503	SO:0001583	missense	49854				negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding	g.chr21:43413679G>A	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.526C>T	21.37:g.43413679G>A	ENSP00000308759:p.Pro176Ser					ZNF295_uc002yzz.3_Missense_Mutation_p.P176S|ZNF295_uc002yzy.3_Missense_Mutation_p.P176S|ZNF295_uc002zaa.3_Missense_Mutation_p.P176S|ZNF295_uc010gov.1_Missense_Mutation_p.P176S|ZNF295_uc002zac.2_Missense_Mutation_p.P176S	p.P176S	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN			3	740	-			176					Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	c.526C>T	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974193	0.53720	.	.	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511	T;T;T;T	0.07216	3.46;3.21;3.21;3.21	5.81	2.87	0.33458	.	0.114326	0.37715	N	0.001971	T	0.10380	0.0254	L	0.60455	1.87	0.09310	N	1	P;B	0.36959	0.575;0.265	B;B	0.36845	0.234;0.08	T	0.10200	-1.0640	10	0.56958	D	0.05	-8.5069	11.2081	0.48782	0.0659:0.2463:0.6878:0.0	.	176;176	Q9ULJ3-2;Q9ULJ3	.;ZN295_HUMAN	S	176	ENSP00000381517:P176S;ENSP00000308759:P176S;ENSP00000381512:P176S;ENSP00000381523:P176S	ENSP00000308759:P176S	P	-	1	0	ZNF295	42286748	0.821000	0.29204	0.203000	0.23512	0.968000	0.65278	1.343000	0.33930	0.764000	0.33197	0.655000	0.94253	CCC		0.418	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		41	132	0	0	0	0	41	132				
KRTAP10-9	386676	broad.mit.edu	37	21	46047691	46047691	+	Silent	SNP	C	C	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr21:46047691C>G	ENST00000397911.3	+	1	652	c.603C>G	c.(601-603)gtC>gtG	p.V201V	KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	201	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						GTGTGCCTGTCTGCTCTGGGG	0.622																																						uc002zfp.3		NA																	0					0						c.(601-603)GTC>GTG		keratin associated protein 10-9							237.0	258.0	251.0					21																	46047691		2203	4300	6503	SO:0001819	synonymous_variant	386676					keratin filament		g.chr21:46047691C>G	AJ566386	CCDS42961.1	21q22.3	2007-10-05			ENSG00000221837	ENSG00000221837		"""Keratin associated proteins"""	22971	protein-coding gene	gene with protein product				KRTAP18-9			Standard	NM_198690		Approved	KAP10.9, KAP18.9	uc002zfp.4	P60411	OTTHUMG00000057637	ENST00000397911.3:c.603C>G	21.37:g.46047691C>G						C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.V201V	NM_198690	NP_941963	P60411	KR109_HUMAN			1	652	+			201			20.|25 X 5 AA repeats of C-C-X(3).		A2RRG1|A6NIR9|Q70LJ1	Silent	SNP	ENST00000397911.3	37	c.603C>G	CCDS42961.1																																																																																				0.622	KRTAP10-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128040.1			72	296	0	0	0	0	72	296				
PCNT	5116	broad.mit.edu	37	21	47783764	47783764	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr21:47783764G>C	ENST00000359568.5	+	14	2631	c.2524G>C	c.(2524-2526)Gag>Cag	p.E842Q	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	842					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.E842*(1)|p.E842K(1)|p.E842Q(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTGTGGGCGGGAGCCGCCCAC	0.662																																						uc002zji.3		NA																	3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(3)	ovary(4)|breast(2)|pancreas(2)	8						c.(2524-2526)GAG>CAG		pericentrin							69.0	81.0	77.0					21																	47783764		2193	4278	6471	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47783764G>C	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.2524G>C	21.37:g.47783764G>C	ENSP00000352572:p.Glu842Gln					PCNT_uc002zjj.2_Missense_Mutation_p.E724Q	p.E842Q	NM_006031	NP_006022	O95613	PCNT_HUMAN			14	2631	+	Breast(49;0.112)		842					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.2524G>C	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.039311	0.35989	.	.	ENSG00000160299	ENST00000359568	T	0.25414	1.8	4.43	3.52	0.40303	.	0.000000	0.33346	N	0.005003	T	0.42108	0.1188	M	0.64997	1.995	0.31989	N	0.604906	P;D	0.76494	0.773;0.999	B;D	0.64144	0.273;0.922	T	0.50591	-0.8810	10	0.30854	T	0.27	.	11.972	0.53069	0.0:0.3333:0.6667:0.0	.	724;842	O95613-2;O95613	.;PCNT_HUMAN	Q	842	ENSP00000352572:E842Q	ENSP00000352572:E842Q	E	+	1	0	PCNT	46608192	0.939000	0.31865	0.869000	0.34112	0.269000	0.26545	3.996000	0.57009	0.816000	0.34421	0.491000	0.48974	GAG		0.662	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		8	129	0	0	0	0	8	129				
MICAL3	57553	broad.mit.edu	37	22	18301236	18301236	+	Silent	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr22:18301236C>T	ENST00000441493.2	-	26	4543	c.4191G>A	c.(4189-4191)gaG>gaA	p.E1397E	MICAL3_ENST00000580469.1_5'Flank	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1397	Pro-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GGGACAACGGCTCGCCTTCCG	0.647																																						uc002zng.3		NA																	0					0						c.(4189-4191)GAG>GAA		microtubule associated monoxygenase, calponin							80.0	93.0	89.0					22																	18301236		1927	4116	6043	SO:0001819	synonymous_variant	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18301236C>T	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.4191G>A	22.37:g.18301236C>T						MICAL3_uc011agl.1_Silent_p.E1313E|MICAL3_uc010gre.1_5'Flank	p.E1397E	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	26	4544	-		all_epithelial(15;0.198)	1397			Pro-rich.		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Silent	SNP	ENST00000441493.2	37	c.4191G>A	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.660912	0.00772	.	.	ENSG00000093100	ENST00000252134	.	.	.	4.42	-5.41	0.02648	.	.	.	.	.	T	0.29882	0.0747	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.39542	-0.9609	4	.	.	.	.	10.0308	0.42099	0.0767:0.5992:0.2406:0.0835	.	.	.	.	N	379	.	.	S	-	2	0	XXbac-B461K10.4	16681236	0.502000	0.26107	0.000000	0.03702	0.000000	0.00434	0.129000	0.15830	-0.705000	0.05035	-0.519000	0.04390	AGC		0.647	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			34	94	0	0	0	0	34	94				
CABIN1	23523	broad.mit.edu	37	22	24463127	24463127	+	Silent	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr22:24463127C>T	ENST00000398319.2	+	16	2612	c.2227C>T	c.(2227-2229)Ctg>Ttg	p.L743L	CABIN1_ENST00000405822.2_Silent_p.L693L|CABIN1_ENST00000263119.5_Silent_p.L743L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	743					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCTGCTTCTTCTGCAGGTGTG	0.532																																						uc002zzi.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(2227-2229)CTG>TTG		calcineurin binding protein 1							50.0	50.0	50.0					22																	24463127		2203	4300	6503	SO:0001819	synonymous_variant	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24463127C>T	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.2227C>T	22.37:g.24463127C>T						CABIN1_uc002zzj.1_Silent_p.L693L|CABIN1_uc002zzl.1_Silent_p.L743L	p.L743L	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN			16	2354	+			743					G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	37	c.2227C>T	CCDS13823.1																																																																																				0.532	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		5	26	0	0	0	0	5	26				
TPST2	8459	broad.mit.edu	37	22	26928676	26928676	+	Silent	SNP	C	C	T	rs200249941		TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr22:26928676C>T	ENST00000338754.4	-	5	1347	c.1077G>A	c.(1075-1077)ctG>ctA	p.L359L	TPST2_ENST00000398110.2_Silent_p.L359L|TPST2_ENST00000403880.1_Silent_p.L359L	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	359					fusion of sperm to egg plasma membrane (GO:0007342)|peptidyl-tyrosine sulfation (GO:0006478)|prevention of polyspermy (GO:0060468)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			central_nervous_system(1)|large_intestine(1)|lung(5)	7						AATATCCTTTCAGATTGGCTG	0.378													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20257	0.0		0.0	False		,,,				2504	0.0					uc003acv.2		NA																	0				central_nervous_system(1)	1						c.(1075-1077)CTG>CTA		tyrosylprotein sulfotransferase 2							194.0	206.0	202.0					22																	26928676		2203	4300	6503	SO:0001819	synonymous_variant	8459				peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr22:26928676C>T	AF049891	CCDS13839.1	22q12.1	2012-12-13			ENSG00000128294	ENSG00000128294	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12021	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog B (Drosophila)"""	603126				9736702, 9733778	Standard	NM_003595		Approved	TANGO13B	uc003acx.3	O60704	OTTHUMG00000150987	ENST00000338754.4:c.1077G>A	22.37:g.26928676C>T						TPST2_uc003acw.2_Silent_p.L359L|TPST2_uc003acx.2_Silent_p.L359L	p.L359L	NM_003595	NP_003586	O60704	TPST2_HUMAN			4	1245	-			359			Lumenal (Potential).		B3KQA7|Q6FI98|Q9H0V4	Silent	SNP	ENST00000338754.4	37	c.1077G>A	CCDS13839.1																																																																																				0.378	TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320820.3	NM_003595		35	233	0	0	0	0	35	233				
SMC1B	27127	broad.mit.edu	37	22	45745620	45745620	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr22:45745620T>A	ENST00000357450.4	-	23	3483	c.3484A>T	c.(3484-3486)Aac>Tac	p.N1162Y	SMC1B_ENST00000404354.3_Intron	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	1162					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTGCCTATGTTAGTATTGTCT	0.333																																						uc003bgc.2		NA																	0				ovary(2)	2						c.(3484-3486)AAC>TAC		SMC1 structural maintenance of chromosomes							93.0	90.0	91.0					22																	45745620		1872	4110	5982	SO:0001583	missense	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45745620T>A	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.3484A>T	22.37:g.45745620T>A	ENSP00000350036:p.Asn1162Tyr					SMC1B_uc003bgd.2_Intron	p.N1162Y	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	23	3536	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1162					A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	c.3484A>T	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.096308	0.76870	.	.	ENSG00000077935	ENST00000357450	T	0.71103	-0.54	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000012	D	0.86879	0.6039	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89955	0.4082	10	0.87932	D	0	.	14.3957	0.67010	0.0:0.0:0.0:1.0	.	1162	Q8NDV3-3	.	Y	1162	ENSP00000350036:N1162Y	ENSP00000350036:N1162Y	N	-	1	0	SMC1B	44124284	1.000000	0.71417	0.996000	0.52242	0.908000	0.53690	7.583000	0.82559	1.876000	0.54355	0.377000	0.23210	AAC		0.333	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		17	26	0	0	0	0	17	26				
TRANK1	9881	broad.mit.edu	37	3	36873988	36873988	+	Silent	SNP	G	G	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr3:36873988G>C	ENST00000429976.2	-	21	7201	c.6954C>G	c.(6952-6954)ctC>ctG	p.L2318L	TRANK1_ENST00000428977.2_Silent_p.L1768L|TRANK1_ENST00000301807.6_Silent_p.L1768L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2318							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTAGAGCTTTGAGTTCCCTGT	0.512																																						uc003cgj.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(5302-5304)CTC>CTG		lupus brain antigen 1							112.0	111.0	111.0					3																	36873988		1889	4096	5985	SO:0001819	synonymous_variant	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36873988G>C	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.6954C>G	3.37:g.36873988G>C							p.L1768L	NM_014831	NP_055646	O15050	TRNK1_HUMAN			12	5606	-			2318			Potential.		Q8N8K0	Silent	SNP	ENST00000429976.2	37	c.5304C>G	CCDS46789.2																																																																																				0.512	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		7	75	0	0	0	0	7	75				
ULK4	54986	broad.mit.edu	37	3	41960008	41960008	+	Missense_Mutation	SNP	C	C	A	rs55840267		TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr3:41960008C>A	ENST00000301831.4	-	7	1130	c.668G>T	c.(667-669)aGt>aTt	p.S223I	ULK4_ENST00000420927.1_Missense_Mutation_p.S223I	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	223	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		S -> N (in dbSNP:rs55840267). {ECO:0000269|PubMed:17344846}.		cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TTCTGAAATACTTTCTGAGAA	0.279																																						uc003ckv.3		NA																	0					0						c.(667-669)AGT>ATT		unc-51-like kinase 4							64.0	64.0	64.0					3																	41960008		1816	4078	5894	SO:0001583	missense	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41960008C>A	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.668G>T	3.37:g.41960008C>A	ENSP00000301831:p.Ser223Ile					ULK4_uc003ckw.2_Missense_Mutation_p.S223I|ULK4_uc003ckx.1_Missense_Mutation_p.S223I	p.S223I	NM_017886	NP_060356	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	7	869	-			223			Protein kinase.		A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	c.668G>T	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.922094	0.33908	.	.	ENSG00000168038	ENST00000301831;ENST00000420927	T;T	0.76448	-1.02;1.65	5.4	0.362	0.16113	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.593971	0.19635	N	0.109585	T	0.78742	0.4331	M	0.78344	2.41	0.25377	N	0.988643	B;B	0.32396	0.369;0.369	B;B	0.43575	0.328;0.424	T	0.72371	-0.4314	10	0.87932	D	0	.	5.5461	0.17065	0.0:0.4511:0.2578:0.2911	.	223;223	B4E2M4;Q96C45	.;ULK4_HUMAN	I	223	ENSP00000301831:S223I;ENSP00000412187:S223I	ENSP00000301831:S223I	S	-	2	0	ULK4	41935012	0.194000	0.23325	0.014000	0.15608	0.729000	0.41735	-0.024000	0.12435	-0.243000	0.09653	0.585000	0.79938	AGT		0.279	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		3	64	1	0	0.00909568	0.00937678	3	64				
NKTR	4820	broad.mit.edu	37	3	42680530	42680530	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr3:42680530G>A	ENST00000232978.8	+	13	3522	c.3334G>A	c.(3334-3336)Gaa>Aaa	p.E1112K	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1112					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TCAGCACGTTGAAGAAAGTGT	0.408																																						uc003clo.2		NA																	0				ovary(2)|skin(1)	3						c.(3334-3336)GAA>AAA		natural killer-tumor recognition sequence							92.0	93.0	92.0					3																	42680530		2203	4300	6503	SO:0001583	missense	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42680530G>A		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.3334G>A	3.37:g.42680530G>A	ENSP00000232978:p.Glu1112Lys					NKTR_uc003clm.1_Missense_Mutation_p.E859K|NKTR_uc003clp.2_Missense_Mutation_p.E859K|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.E1002K|NKTR_uc003clr.1_Missense_Mutation_p.E859K|NKTR_uc003cls.2_Missense_Mutation_p.E812K	p.E1112K	NM_005385	NP_005376	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	3481	+			1112						Missense_Mutation	SNP	ENST00000232978.8	37	c.3334G>A	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.224141	0.58668	.	.	ENSG00000114857	ENST00000232978	T	0.12984	2.63	4.83	4.83	0.62350	.	0.495951	0.21974	N	0.066419	T	0.12518	0.0304	N	0.11341	0.13	0.80722	D	1	D;B	0.56035	0.974;0.079	P;B	0.48189	0.57;0.051	T	0.22941	-1.0202	10	0.36615	T	0.2	-8.4383	18.2763	0.90084	0.0:0.0:1.0:0.0	.	812;1112	Q6M1B8;P30414	.;NKTR_HUMAN	K	1112	ENSP00000232978:E1112K	ENSP00000232978:E1112K	E	+	1	0	NKTR	42655534	0.998000	0.40836	0.284000	0.24805	0.018000	0.09664	4.007000	0.57093	2.380000	0.81148	0.557000	0.71058	GAA		0.408	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		10	37	0	0	0	0	10	37				
PDE12	201626	broad.mit.edu	37	3	57542704	57542704	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr3:57542704G>A	ENST00000311180.8	+	1	701	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	PDE12_ENST00000487257.1_Missense_Mutation_p.E200K	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	200					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)		CTGGTATAAGGAAGCCAAGCC	0.607																																					Colon(125;308 1634 19198 50622 50717)	uc003diw.3		NA																	0					0						c.(598-600)GAA>AAA		phosphodiesterase 12							78.0	84.0	82.0					3																	57542704		2203	4300	6503	SO:0001583	missense	201626						hydrolase activity	g.chr3:57542704G>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.598G>A	3.37:g.57542704G>A	ENSP00000309142:p.Glu200Lys					PDE12_uc003div.2_Missense_Mutation_p.E200K	p.E200K	NM_177966	NP_808881	Q6L8Q7	PDE12_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)	1	724	+			200					B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Missense_Mutation	SNP	ENST00000311180.8	37	c.598G>A	CCDS33772.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961433	0.53400	.	.	ENSG00000174840	ENST00000487257;ENST00000311180	T;T	0.23552	1.9;1.93	5.3	4.4	0.53042	.	0.627172	0.17201	N	0.183120	T	0.28896	0.0717	L	0.59436	1.845	0.35661	D	0.812553	B;B	0.26002	0.086;0.139	B;B	0.30251	0.053;0.113	T	0.30794	-0.9966	10	0.54805	T	0.06	-13.7511	11.8089	0.52171	0.0:0.177:0.823:0.0	.	200;200	Q6L8Q7;F6T1Q0	PDE12_HUMAN;.	K	200	ENSP00000420626:E200K;ENSP00000309142:E200K	ENSP00000309142:E200K	E	+	1	0	PDE12	57517744	1.000000	0.71417	0.999000	0.59377	0.850000	0.48378	4.027000	0.57239	1.185000	0.42971	0.561000	0.74099	GAA		0.607	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351440.2	NM_177966		24	51	0	0	0	0	24	51				
NXPE3	91775	broad.mit.edu	37	3	101520115	101520115	+	Missense_Mutation	SNP	G	G	A	rs139375291		TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr3:101520115G>A	ENST00000491511.2	+	5	1086	c.130G>A	c.(130-132)Gac>Aac	p.D44N	NXPE3_ENST00000477909.1_Missense_Mutation_p.D44N|NXPE3_ENST00000422132.1_Missense_Mutation_p.D44N|NXPE3_ENST00000273347.5_Missense_Mutation_p.D44N	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	44						extracellular region (GO:0005576)											CACTTTCATCGACAGCAGTGG	0.458																																						uc003dvn.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(130-132)GAC>AAC		hypothetical protein LOC91775 precursor		G	ASN/ASP,ASN/ASP	0,4406		0,0,2203	134.0	132.0	133.0		130,130	5.8	0.9	3	dbSNP_134	133	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FAM55C	NM_001134456.1,NM_145037.2	23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	44/560,44/560	101520115	1,13005	2203	4300	6503	SO:0001583	missense	91775					extracellular region		g.chr3:101520115G>A	AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member C"""	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.130G>A	3.37:g.101520115G>A	ENSP00000417485:p.Asp44Asn					FAM55C_uc010hpn.2_Missense_Mutation_p.D44N	p.D44N	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN			5	767	+			44					A8K0X4|D3DN53|Q7Z2S8	Missense_Mutation	SNP	ENST00000491511.2	37	c.130G>A	CCDS2945.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.888006	0.72524	0.0	1.16E-4	ENSG00000144815	ENST00000273347;ENST00000474165;ENST00000491511;ENST00000477909;ENST00000422132	T;T;T;T	0.11604	2.76;2.76;2.76;2.76	5.82	5.82	0.92795	.	0.404288	0.27627	N	0.018525	T	0.08223	0.0205	N	0.24115	0.695	0.38046	D	0.93563	P	0.48640	0.913	B	0.36378	0.223	T	0.40608	-0.9554	10	0.17369	T	0.5	-20.1103	20.1001	0.97870	0.0:0.0:1.0:0.0	.	44	Q969Y0	FA55C_HUMAN	N	44	ENSP00000273347:D44N;ENSP00000417485:D44N;ENSP00000418369:D44N;ENSP00000396421:D44N	ENSP00000273347:D44N	D	+	1	0	FAM55C	103002805	1.000000	0.71417	0.945000	0.38365	0.989000	0.77384	5.489000	0.66875	2.760000	0.94817	0.655000	0.94253	GAC		0.458	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2	NM_145037		27	161	0	0	0	0	27	161				
KALRN	8997	broad.mit.edu	37	3	124207131	124207131	+	Silent	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr3:124207131C>T	ENST00000240874.3	+	29	4516	c.4359C>T	c.(4357-4359)gcC>gcT	p.A1453A	KALRN_ENST00000360013.3_Silent_p.A1453A|KALRN_ENST00000460856.1_Silent_p.A1444A	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1453	DH 1. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CAAAGAAAGCCAATGATGCCA	0.532																																						uc003ehg.2		NA																	0				large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(4357-4359)GCC>GCT		kalirin, RhoGEF kinase isoform 1							134.0	103.0	114.0					3																	124207131		2203	4300	6503	SO:0001819	synonymous_variant	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124207131C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.4359C>T	3.37:g.124207131C>T						KALRN_uc010hrv.1_Silent_p.A1444A|KALRN_uc003ehf.1_Silent_p.A1453A|KALRN_uc011bjy.1_Silent_p.A1444A|KALRN_uc003ehh.1_Silent_p.A799A	p.A1453A	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			29	4486	+			1453			DH 1.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000240874.3	37	c.4359C>T	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.308317	0.23821	.	.	ENSG00000160145	ENST00000354186	.	.	.	5.14	3.21	0.36854	.	.	.	.	.	T	0.57359	0.2048	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54002	-0.8358	4	.	.	.	.	8.561	0.33511	0.1297:0.716:0.0:0.1543	.	.	.	.	L	1422	.	.	P	+	2	0	KALRN	125689821	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.592000	0.23984	1.410000	0.46936	0.655000	0.94253	CCA		0.532	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		4	91	0	0	0	0	4	91				
ACAD9	28976	broad.mit.edu	37	3	128625055	128625055	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr3:128625055G>A	ENST00000308982.7	+	12	1322	c.1241G>A	c.(1240-1242)cGc>cAc	p.R414H	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	414						dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						CCGTACGAGCGCATACTGCGT	0.632																																						uc003ela.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1240-1242)CGC>CAC		acyl-Coenzyme A dehydrogenase family, member 9							121.0	111.0	115.0					3																	128625055		2203	4300	6503	SO:0001583	missense	28976					mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	g.chr3:128625055G>A	AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646		"""Mitochondrial respiratory chain complex assembly factors"""	21497	protein-coding gene	gene with protein product		611103	"""acyl-Coenzyme A dehydrogenase family, member 9"""			12359260, 21057504, 20816094	Standard	NM_014049		Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.1241G>A	3.37:g.128625055G>A	ENSP00000312618:p.Arg414His					ACAD9_uc010hsw.1_Missense_Mutation_p.R291H|ACAD9_uc011bks.1_Missense_Mutation_p.R291H|ACAD9_uc003elb.2_Missense_Mutation_p.R291H|ACAD9_uc003eld.1_RNA|ACAD9_uc003ele.2_Missense_Mutation_p.R66H	p.R414H	NM_014049	NP_054768	Q9H845	ACAD9_HUMAN			12	1443	+			414					D3DNB8|Q8WXX3	Missense_Mutation	SNP	ENST00000308982.7	37	c.1241G>A	CCDS3053.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491866	0.84962	.	.	ENSG00000177646	ENST00000308982;ENST00000334167	D	0.97378	-4.36	5.66	4.77	0.60923	Acyl-CoA dehydrogenase, conserved site (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.98713	0.9568	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.99494	1.0951	10	0.87932	D	0	.	14.2991	0.66334	0.0:0.1497:0.8503:0.0	.	291;414	Q9H9W4;Q9H845	.;ACAD9_HUMAN	H	414;281	ENSP00000312618:R414H	ENSP00000312618:R414H	R	+	2	0	ACAD9	130107745	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	9.033000	0.93741	1.354000	0.45846	0.655000	0.94253	CGC		0.632	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358405.1	NM_014049		4	115	0	0	0	0	4	115				
ZBTB38	253461	broad.mit.edu	37	3	141161426	141161426	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr3:141161426A>G	ENST00000514251.1	+	4	475	c.196A>G	c.(196-198)Aca>Gca	p.T66A	ZBTB38_ENST00000441582.2_Missense_Mutation_p.T66A|ZBTB38_ENST00000321464.5_Missense_Mutation_p.T67A					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TTGGAGCCATACAATCTGTAT	0.388																																						uc003etw.2		NA																	0				ovary(3)	3						c.(196-198)ACA>GCA		zinc finger and BTB domain containing 38							78.0	76.0	77.0					3																	141161426		1840	4092	5932	SO:0001583	missense	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141161426A>G	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.196A>G	3.37:g.141161426A>G	ENSP00000426387:p.Thr66Ala					ZBTB38_uc010hun.2_Missense_Mutation_p.T63A|ZBTB38_uc010huo.2_Missense_Mutation_p.T66A|ZBTB38_uc003ety.2_Missense_Mutation_p.T66A|ZBTB38_uc010hup.2_Missense_Mutation_p.T67A	p.T66A	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN			8	1178	+			66			BTB.			Missense_Mutation	SNP	ENST00000514251.1	37	c.196A>G	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	A	7.007	0.555957	0.13436	.	.	ENSG00000177311	ENST00000509842;ENST00000507722;ENST00000513258;ENST00000509883;ENST00000514251;ENST00000510338;ENST00000504673;ENST00000513570;ENST00000441582;ENST00000321464;ENST00000510726;ENST00000509813	T;T;T;T;T;T;T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	5.07	2.69	0.31865	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.322146	0.33419	N	0.004927	T	0.47021	0.1423	N	0.11284	0.12	0.09310	N	1	B;B	0.21821	0.061;0.061	B;B	0.20767	0.031;0.031	T	0.30707	-0.9969	10	0.27785	T	0.31	-25.4917	8.5248	0.33298	0.78:0.0:0.22:0.0	.	67;66	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	A	66;66;66;66;66;66;66;66;66;67;66;66	ENSP00000426931:T66A;ENSP00000421037:T66A;ENSP00000426288:T66A;ENSP00000424254:T66A;ENSP00000426387:T66A;ENSP00000425705:T66A;ENSP00000422347:T66A;ENSP00000422757:T66A;ENSP00000406955:T66A;ENSP00000372635:T67A;ENSP00000422081:T66A;ENSP00000422894:T66A	ENSP00000372635:T67A	T	+	1	0	ZBTB38	142644116	0.834000	0.29399	0.301000	0.25044	0.983000	0.72400	1.674000	0.37544	0.884000	0.36064	-0.346000	0.07831	ACA		0.388	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			16	81	0	0	0	0	16	81				
DVL3	1857	broad.mit.edu	37	3	183885832	183885832	+	Missense_Mutation	SNP	A	A	G	rs61758454	byFrequency	TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr3:183885832A>G	ENST00000313143.3	+	13	1725	c.1477A>G	c.(1477-1479)Atc>Gtc	p.I493V	DVL3_ENST00000431765.1_Missense_Mutation_p.I476V|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	493	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GTGCTACTACATCTTCGGTGA	0.592													A|||	44	0.00878594	0.0	0.0	5008	,	,		20380	0.0		0.0	False		,,,				2504	0.045					uc003fms.2		NA																	0				ovary(1)|lung(1)|breast(1)	3						c.(1477-1479)ATC>GTC		dishevelled 3							159.0	143.0	149.0					3																	183885832		2203	4300	6503	SO:0001583	missense	1857				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	g.chr3:183885832A>G	D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"""Dishevelled homologs"""	3087	protein-coding gene	gene with protein product		601368	"""dishevelled 3 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 3 (Drosophila)"""			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.1477A>G	3.37:g.183885832A>G	ENSP00000316054:p.Ile493Val					DVL3_uc011bqw.1_Missense_Mutation_p.I476V|DVL3_uc003fmt.2_Missense_Mutation_p.I164V|DVL3_uc003fmu.2_Missense_Mutation_p.I325V	p.I493V	NM_004423	NP_004414	Q92997	DVL3_HUMAN	Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)		13	1617	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		493			DEP.		B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Missense_Mutation	SNP	ENST00000313143.3	37	c.1477A>G	CCDS3253.1	.	.	.	.	.	.	.	.	.	.	A	2.727	-0.265178	0.05754	.	.	ENSG00000161202	ENST00000313143;ENST00000415612;ENST00000431765	T;T	0.21031	2.03;2.03	5.64	4.48	0.54585	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.052336	0.85682	D	0.000000	T	0.07143	0.0181	N	0.01284	-0.91	0.58432	D	0.999999	B;B;B;B	0.23316	0.041;0.032;0.012;0.083	B;B;B;B	0.31101	0.086;0.124;0.076;0.086	T	0.23547	-1.0185	10	0.02654	T	1	-6.0097	11.2691	0.49127	0.9288:0.0:0.0712:0.0	rs61758454	476;325;493;493	B4E3E5;Q9UG07;F5GWR8;Q92997	.;.;.;DVL3_HUMAN	V	493;493;476	ENSP00000316054:I493V;ENSP00000405885:I476V	ENSP00000316054:I493V	I	+	1	0	DVL3	185368526	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.147000	0.71783	0.986000	0.38683	0.533000	0.62120	ATC		0.592	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	NM_004423		16	102	0	0	0	0	16	102				
GC	2638	broad.mit.edu	37	4	72635073	72635073	+	Silent	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr4:72635073G>A	ENST00000273951.8	-	2	446	c.103C>T	c.(103-105)Ctg>Ttg	p.L35L	GC_ENST00000513476.1_Silent_p.L35L|GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Silent_p.L54L	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	35	Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	TCCTTTCCCAGATGGGAGAAT	0.408																																						uc003hge.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(103-105)CTG>TTG		vitamin D-binding protein precursor	Cholecalciferol(DB00169)						85.0	82.0	83.0					4																	72635073		2203	4300	6503	SO:0001819	synonymous_variant	2638				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	g.chr4:72635073G>A	L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.103C>T	4.37:g.72635073G>A						GC_uc003hgd.2_5'UTR|GC_uc010iie.2_Silent_p.L35L|GC_uc010iif.2_Silent_p.L54L	p.L35L	NM_000583	NP_000574	P02774	VTDB_HUMAN	Lung(101;0.148)		2	256	-		all_hematologic(202;0.107)	35			Albumin 1.		B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Silent	SNP	ENST00000273951.8	37	c.103C>T	CCDS3550.1																																																																																				0.408	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2			3	27	0	0	0	0	3	27				
ALB	213	broad.mit.edu	37	4	74274375	74274375	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr4:74274375C>T	ENST00000295897.4	+	4	424	c.335C>T	c.(334-336)gCt>gTt	p.A112V	ALB_ENST00000401494.3_Intron|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000503124.1_Intron|ALB_ENST00000415165.2_Intron|ALB_ENST00000509063.1_Missense_Mutation_p.A112V	NM_000477.5	NP_000468.1	Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGTGAAATGGCTGACTGCTGT	0.443																																						uc003hgs.3		NA																	0				ovary(3)|skin(3)	6						c.(334-336)GCT>GTT		albumin preproprotein	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)						95.0	88.0	91.0					4																	74274375		2203	4300	6503	SO:0001583	missense	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74274375C>T	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000295897.4:c.335C>T	4.37:g.74274375C>T	ENSP00000295897:p.Ala112Val					ALB_uc003hgw.3_Intron|ALB_uc011cbe.1_Intron|ALB_uc003hgt.3_Missense_Mutation_p.A112V|ALB_uc010iii.2_Intron|ALB_uc003hgu.3_Intron|ALB_uc003hgv.3_Intron|ALB_uc011cbf.1_Missense_Mutation_p.A2V|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_5'Flank	p.A112V	NM_000477	NP_000468	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		4	408	+	Breast(15;0.00102)		112			Albumin 1.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000295897.4	37	c.335C>T	CCDS3555.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.721675	0.89298	.	.	ENSG00000163631	ENST00000441319;ENST00000295897;ENST00000329326;ENST00000509063;ENST00000430202	T;T;T	0.74421	-0.84;-0.84;-0.84	6.04	6.04	0.98038	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.162076	0.41194	D	0.000933	D	0.86016	0.5832	M	0.83692	2.655	0.80722	D	1	D;D	0.64830	0.99;0.994	P;D	0.66602	0.88;0.945	D	0.87245	0.2269	10	0.87932	D	0	-19.1632	14.0479	0.64716	0.1508:0.8492:0.0:0.0	.	112;112	A6NBZ8;P02768	.;ALBU_HUMAN	V	114;112;112;112;121	ENSP00000392541:A114V;ENSP00000295897:A112V;ENSP00000422784:A112V	ENSP00000295897:A112V	A	+	2	0	ALB	74493239	0.994000	0.37717	1.000000	0.80357	0.865000	0.49528	1.571000	0.36450	2.873000	0.98535	0.563000	0.77884	GCT		0.443	ALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252173.3	NM_000477		6	27	0	0	0	0	6	27				
FAM47E-STBD1	100631383	broad.mit.edu	37	4	77231134	77231134	+	Missense_Mutation	SNP	C	C	A	rs527950885		TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr4:77231134C>A	ENST00000237642.6	+	2	1802	c.1058C>A	c.(1057-1059)gCa>gAa	p.A353E	FAM47E-STBD1_ENST00000539752.1_Missense_Mutation_p.A204E|FAM47E_ENST00000515604.1_3'UTR	NM_003943.4	NP_003934.1			FAM47E-STBD1 readthrough																		GTGGTTCACGCATGGTGGGGG	0.453													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20946	0.0		0.0	False		,,,				2504	0.0					uc003hka.2		NA																	0				ovary(1)	1						c.(1057-1059)GCA>GAA		starch binding domain 1							106.0	113.0	111.0					4																	77231134		2203	4300	6503	SO:0001583	missense	8987				carbohydrate metabolic process|muscle contraction	integral to plasma membrane|membrane fraction	carbohydrate binding|catalytic activity|protein binding	g.chr4:77231134C>A		CCDS58908.1	4q21.1	2013-04-23			ENSG00000118804	ENSG00000118804			44667	other	readthrough							Standard	NM_001242939		Approved				OTTHUMG00000160966	ENST00000237642.6:c.1058C>A	4.37:g.77231134C>A	ENSP00000237642:p.Ala353Glu					STBD1_uc003hjy.2_3'UTR|STBD1_uc011cbv.1_3'UTR|STBD1_uc011cbw.1_Missense_Mutation_p.A204E	p.A353E	NM_003943	NP_003934	O95210	STBD1_HUMAN	Lung(101;0.196)		2	1304	+			353			CBM20.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000237642.6	37	c.1058C>A	CCDS3578.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.650806	0.00785	.	.	ENSG00000118804	ENST00000539752;ENST00000237642	D;D	0.88354	-2.37;-2.37	5.37	1.79	0.24919	Carbohydrate-binding-like fold (1);Glycoside hydrolase, carbohydrate-binding (1);Immunoglobulin-like fold (1);	0.952048	0.08677	N	0.909944	T	0.69860	0.3158	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.58662	-0.7597	10	0.02654	T	1	-1.9886	0.979	0.01432	0.4661:0.183:0.209:0.1419	.	353	O95210	STBD1_HUMAN	E	204;353	ENSP00000442265:A204E;ENSP00000237642:A353E	ENSP00000237642:A353E	A	+	2	0	STBD1	77450158	0.982000	0.34865	0.392000	0.26245	0.002000	0.02628	1.976000	0.40579	0.139000	0.18822	-0.293000	0.09583	GCA		0.453	FAM47E-STBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252415.2			23	115	1	0	4.88e-14	5.65e-14	23	115				
HERC3	8916	broad.mit.edu	37	4	89627912	89627912	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr4:89627912C>A	ENST00000402738.1	+	26	3193	c.2954C>A	c.(2953-2955)aCa>aAa	p.T985K	HERC3_ENST00000264345.3_Missense_Mutation_p.T985K|HERC3_ENST00000543130.1_Missense_Mutation_p.T429K	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	985	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		GTGTTCCTGACAGGCAGCGAT	0.552											OREG0016265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003hrw.1		NA																	0				lung(2)|prostate(1)|skin(1)	4						c.(2953-2955)ACA>AAA		hect domain and RLD 3							72.0	57.0	62.0					4																	89627912		2203	4300	6503	SO:0001583	missense	8916				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity	g.chr4:89627912C>A	D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"""hect domain and RLD 3"""			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.2954C>A	4.37:g.89627912C>A	ENSP00000385684:p.Thr985Lys		OREG0016265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1268	HERC3_uc011cdn.1_Missense_Mutation_p.T867K|HERC3_uc011cdo.1_Missense_Mutation_p.T429K	p.T985K	NM_014606	NP_055421	Q15034	HERC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000319)	26	3120	+			985			HECT.		A8K1S5|Q8IXX3	Missense_Mutation	SNP	ENST00000402738.1	37	c.2954C>A	CCDS34028.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.754780	0.89843	.	.	ENSG00000138641	ENST00000402738;ENST00000264345;ENST00000543130	T;T;T	0.71103	-0.54;-0.54;-0.54	4.93	4.93	0.64822	HECT (4);	0.000000	0.85682	D	0.000000	D	0.91078	0.7192	H	0.98849	4.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94503	0.7711	10	0.87932	D	0	.	18.7107	0.91655	0.0:1.0:0.0:0.0	.	985	Q15034	HERC3_HUMAN	K	985;985;429	ENSP00000385684:T985K;ENSP00000264345:T985K;ENSP00000441703:T429K	ENSP00000264345:T985K	T	+	2	0	HERC3	89846935	1.000000	0.71417	0.962000	0.40283	0.850000	0.48378	7.609000	0.82925	2.713000	0.92767	0.655000	0.94253	ACA		0.552	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606		4	15	1	0	0.00024832	0.000267201	4	15				
CCDC110	256309	broad.mit.edu	37	4	186380147	186380147	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr4:186380147G>C	ENST00000307588.3	-	6	1669	c.1594C>G	c.(1594-1596)Ctt>Gtt	p.L532V	CCDC110_ENST00000393540.3_Missense_Mutation_p.L495V|CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000510617.1_Missense_Mutation_p.L532V	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	532						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TCTAAAGAAAGTTGTATATTT	0.269																																						uc003ixu.3		NA																	0				central_nervous_system(1)	1						c.(1594-1596)CTT>GTT		coiled-coil domain containing 110 isoform a							85.0	82.0	83.0					4																	186380147		2202	4294	6496	SO:0001583	missense	256309					nucleus		g.chr4:186380147G>C	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1594C>G	4.37:g.186380147G>C	ENSP00000306776:p.Leu532Val					CCDC110_uc003ixv.3_Missense_Mutation_p.L495V|CCDC110_uc011ckt.1_Missense_Mutation_p.L532V	p.L532V	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	6	1670	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	532			Potential.		Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	37	c.1594C>G	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	G	8.233	0.805201	0.16467	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.08807	3.06;3.05;3.05	5.85	5.0	0.66597	.	0.272361	0.26542	N	0.023786	T	0.21718	0.0523	M	0.65975	2.015	0.21841	N	0.999513	D;D;D	0.59767	0.986;0.986;0.986	P;P;P	0.58520	0.84;0.84;0.84	T	0.02167	-1.1202	10	0.52906	T	0.07	-11.1393	13.2341	0.59958	0.0755:0.0:0.9245:0.0	.	532;495;532	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	V	495;532;532	ENSP00000377172:L495V;ENSP00000306776:L532V;ENSP00000427246:L532V	ENSP00000306776:L532V	L	-	1	0	CCDC110	186617141	1.000000	0.71417	0.996000	0.52242	0.085000	0.17905	2.895000	0.48648	2.755000	0.94549	0.655000	0.94253	CTT		0.269	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		13	31	0	0	0	0	13	31				
DNAH5	1767	broad.mit.edu	37	5	13901525	13901525	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr5:13901525C>T	ENST00000265104.4	-	14	1992	c.1888G>A	c.(1888-1890)Gcc>Acc	p.A630T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	630	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGCTGGCGGGCCCACAAAATC	0.502									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(1888-1890)GCC>ACC		dynein, axonemal, heavy chain 5							52.0	51.0	52.0					5																	13901525		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13901525C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.1888G>A	5.37:g.13901525C>T	ENSP00000265104:p.Ala630Thr						p.A630T	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			14	1930	-	Lung NSC(4;0.00476)		630			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.1888G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	34	5.366017	0.95900	.	.	ENSG00000039139	ENST00000265104	T	0.59772	0.24	5.55	5.55	0.83447	Dynein heavy chain, domain-1 (1);	0.000000	0.85682	D	0.000000	T	0.68366	0.2993	M	0.82323	2.585	0.80722	D	1	P	0.42961	0.795	P	0.44673	0.457	T	0.70439	-0.4871	10	0.39692	T	0.17	.	19.4947	0.95067	0.0:1.0:0.0:0.0	.	630	Q8TE73	DYH5_HUMAN	T	630	ENSP00000265104:A630T	ENSP00000265104:A630T	A	-	1	0	DNAH5	13954525	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.801000	0.69115	2.622000	0.88805	0.491000	0.48974	GCC		0.502	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		7	30	0	0	0	0	7	30				
SEMA6A	57556	broad.mit.edu	37	5	115782551	115782551	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr5:115782551G>T	ENST00000343348.6	-	19	3638	c.2851C>A	c.(2851-2853)Cag>Aag	p.Q951K	CTB-118N6.3_ENST00000508424.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.Q951K|SEMA6A_ENST00000503865.1_Missense_Mutation_p.Q330K|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000282394.6_Missense_Mutation_p.Q428K|SEMA6A_ENST00000513137.1_Missense_Mutation_p.Q378K|CTB-118N6.3_ENST00000512128.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.Q968K|CTB-118N6.3_ENST00000508640.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	951					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CCAAAGCTCTGGTTTCTGGAG	0.607																																						uc010jck.2		NA																	0				ovary(2)	2						c.(2851-2853)CAG>AAG		sema domain, transmembrane domain (TM), and							37.0	41.0	40.0					5																	115782551		1993	4172	6165	SO:0001583	missense	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115782551G>T	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.2851C>A	5.37:g.115782551G>T	ENSP00000345512:p.Gln951Lys					SEMA6A_uc003krx.3_Missense_Mutation_p.Q968K|SEMA6A_uc011cwe.1_Missense_Mutation_p.Q330K|SEMA6A_uc003krv.3_Missense_Mutation_p.Q378K|SEMA6A_uc003krw.3_Missense_Mutation_p.Q428K|SEMA6A_uc010jcj.2_Missense_Mutation_p.Q495K	p.Q951K	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	19	3560	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	951			Cytoplasmic (Potential).		Q9P2H9	Missense_Mutation	SNP	ENST00000343348.6	37	c.2851C>A	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	G	9.953	1.220637	0.22457	.	.	ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000513137;ENST00000282394;ENST00000503865;ENST00000510263	T;T;T;T;T;T	0.42900	2.31;2.31;0.96;2.78;0.97;2.31	4.61	4.61	0.57282	.	1.517660	0.04074	N	0.308578	T	0.32102	0.0818	N	0.22421	0.69	0.49798	D	0.999825	B;B;B;B;B;B	0.31910	0.11;0.049;0.346;0.287;0.116;0.11	B;B;B;B;B;B	0.27608	0.056;0.046;0.081;0.074;0.034;0.056	T	0.30416	-0.9979	10	0.02654	T	1	.	17.2356	0.86998	0.0:0.0:1.0:0.0	.	330;951;495;968;428;378	E9PDV9;Q9H2E6;Q96SM8;Q9H2E6-2;E7ERF3;B3KU01	.;SEM6A_HUMAN;.;.;.;.	K	951;968;378;428;330;951	ENSP00000345512:Q951K;ENSP00000257414:Q968K;ENSP00000422997:Q378K;ENSP00000282394:Q428K;ENSP00000425364:Q330K;ENSP00000424388:Q951K	ENSP00000257414:Q968K	Q	-	1	0	SEMA6A	115810450	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.246000	0.95438	2.389000	0.81357	0.563000	0.77884	CAG		0.607	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		10	38	1	0	1.77e-08	1.99e-08	10	38				
FTMT	94033	broad.mit.edu	37	5	121188162	121188162	+	Missense_Mutation	SNP	G	G	C	rs568437715		TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr5:121188162G>C	ENST00000321339.1	+	1	513	c.504G>C	c.(502-504)aaG>aaC	p.K168N		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	168	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TCTTGGAAAAGAACGTGAACC	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		16069	0.0		0.0	False		,,,				2504	0.001					uc003kss.2		NA																	0				ovary(1)	1						c.(502-504)AAG>AAC		ferritin mitochondrial precursor							119.0	110.0	113.0					5																	121188162		2203	4300	6503	SO:0001583	missense	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121188162G>C	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.504G>C	5.37:g.121188162G>C	ENSP00000313691:p.Lys168Asn						p.K168N	NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	513	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	168			Ferritin-like diiron.			Missense_Mutation	SNP	ENST00000321339.1	37	c.504G>C	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867761	0.51588	.	.	ENSG00000181867	ENST00000321339	T	0.72505	-0.66	3.36	-0.048	0.13840	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.000000	0.85682	D	0.000000	T	0.81730	0.4884	M	0.89715	3.055	0.49687	D	0.99981	D	0.65815	0.995	D	0.69654	0.965	T	0.78135	-0.2322	10	0.87932	D	0	.	5.0374	0.14441	0.2388:0.1715:0.5896:0.0	.	168	Q8N4E7	FTMT_HUMAN	N	168	ENSP00000313691:K168N	ENSP00000313691:K168N	K	+	3	2	FTMT	121216061	1.000000	0.71417	0.011000	0.14972	0.978000	0.69477	2.173000	0.42472	-0.018000	0.14079	0.655000	0.94253	AAG		0.547	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		17	91	0	0	0	0	17	91				
HSPA4	3308	broad.mit.edu	37	5	132440096	132440096	+	Missense_Mutation	SNP	G	G	T	rs144576995		TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr5:132440096G>T	ENST00000304858.2	+	19	2780	c.2491G>T	c.(2491-2493)Gac>Tac	p.D831Y		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	831					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCGGATTCAGACAAGAAGCT	0.423																																					Colon(114;1299 1588 6063 12302 48757)	uc003kyj.2		NA																	0				lung(1)|breast(1)	2						c.(2491-2493)GAC>TAC		heat shock 70kDa protein 4							73.0	80.0	78.0					5																	132440096		2203	4300	6503	SO:0001583	missense	3308				cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding	g.chr5:132440096G>T	AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"""Heat shock proteins / HSP70"""	5237	protein-coding gene	gene with protein product	"""hsp70 RY"""	601113	"""heat shock 70kD protein 4"""			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.2491G>T	5.37:g.132440096G>T	ENSP00000302961:p.Asp831Tyr						p.D831Y	NM_002154	NP_002145	P34932	HSP74_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		19	2772	+			831					O95756|Q2TAL4|Q9BUK9	Missense_Mutation	SNP	ENST00000304858.2	37	c.2491G>T	CCDS4166.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766875	0.49574	.	.	ENSG00000170606	ENST00000304858;ENST00000321956	T	0.01295	5.04	5.92	5.92	0.95590	.	0.289998	0.42548	D	0.000693	T	0.01387	0.0045	N	0.08118	0	0.41784	D	0.989832	P	0.44090	0.826	B	0.37833	0.259	T	0.72440	-0.4293	10	0.72032	D	0.01	-11.4651	20.3088	0.98641	0.0:0.0:1.0:0.0	.	831	P34932	HSP74_HUMAN	Y	831;139	ENSP00000302961:D831Y	ENSP00000302961:D831Y	D	+	1	0	HSPA4	132467995	1.000000	0.71417	0.922000	0.36590	0.783000	0.44284	7.471000	0.80985	2.805000	0.96524	0.579000	0.79373	GAC		0.423	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431		14	64	1	0	6.72e-11	7.74e-11	14	64				
CD14	929	broad.mit.edu	37	5	140012362	140012362	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr5:140012362A>T	ENST00000302014.6	-	2	836	c.207T>A	c.(205-207)ttT>ttA	p.F69L	CD14_ENST00000401743.2_Missense_Mutation_p.F69L	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	69	Ligand-binding pocket rim.				apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|phagocytosis (GO:0006909)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endocytosis (GO:0045807)|positive regulation of tumor necrosis factor production (GO:0032760)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to magnesium ion (GO:0032026)|response to tumor necrosis factor (GO:0034612)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|opsonin receptor activity (GO:0001847)|peptidoglycan receptor activity (GO:0016019)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCTTTAGAAACGGCTCTA	0.632																																						uc003lgi.1		NA																	0					0						c.(205-207)TTT>TTA		CD14 antigen precursor							37.0	38.0	38.0					5																	140012362		2203	4300	6503	SO:0001583	missense	929				apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity	g.chr5:140012362A>T		CCDS4232.1	5q31.3	2012-09-20	2006-03-28		ENSG00000170458	ENSG00000170458		"""CD molecules"""	1628	protein-coding gene	gene with protein product		158120	"""CD14 antigen"""			2472171, 2462937	Standard	NM_000591		Approved		uc003lgi.2	P08571	OTTHUMG00000129507	ENST00000302014.6:c.207T>A	5.37:g.140012362A>T	ENSP00000304236:p.Phe69Leu					CD14_uc003lgj.1_Missense_Mutation_p.F69L	p.F69L	NM_000591	NP_000582	P08571	CD14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	561	-			69			LRR 1.		Q53XT5|Q96FR6|Q96L99|Q9UNS3	Missense_Mutation	SNP	ENST00000302014.6	37	c.207T>A	CCDS4232.1	.	.	.	.	.	.	.	.	.	.	A	14.60	2.583339	0.46006	.	.	ENSG00000170458	ENST00000302014;ENST00000401743;ENST00000498971;ENST00000519715	D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29	5.87	0.805	0.18703	.	0.213670	0.32868	N	0.005555	T	0.73353	0.3576	N	0.17631	0.505	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.57087	-0.7871	10	0.23302	T	0.38	-8.1843	7.6011	0.28077	0.6574:0.0:0.3426:0.0	.	69	P08571	CD14_HUMAN	L	69	ENSP00000304236:F69L;ENSP00000385519:F69L;ENSP00000426543:F69L;ENSP00000430884:F69L	ENSP00000304236:F69L	F	-	3	2	CD14	139992546	0.025000	0.19082	0.087000	0.20705	0.005000	0.04900	-0.119000	0.10676	0.127000	0.18452	-0.290000	0.09829	TTT		0.632	CD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251681.2	NM_000591		4	38	0	0	0	0	4	38				
PCDHA3	56145	broad.mit.edu	37	5	140181796	140181796	+	Silent	SNP	C	C	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr5:140181796C>G	ENST00000522353.2	+	1	1014	c.1014C>G	c.(1012-1014)ctC>ctG	p.L338L	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.L338L|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	338	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTTCTACTCGAAATTGTGG	0.398																																						uc003lhf.2		NA																	0				ovary(6)|skin(2)	8						c.(1012-1014)CTC>CTG		protocadherin alpha 3 isoform 1 precursor							172.0	171.0	172.0					5																	140181796		2203	4300	6503	SO:0001819	synonymous_variant	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140181796C>G	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1014C>G	5.37:g.140181796C>G						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.L338L	p.L338L	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1014	+			338			Cadherin 3.|Extracellular (Potential).		O75286	Silent	SNP	ENST00000522353.2	37	c.1014C>G	CCDS54915.1																																																																																				0.398	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		3	71	0	0	0	0	3	71				
RNF14	9604	broad.mit.edu	37	5	141363007	141363007	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr5:141363007G>T	ENST00000394520.2	+	7	1435	c.1126G>T	c.(1126-1128)Gat>Tat	p.D376Y	AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000356143.1_Missense_Mutation_p.D376Y|RNF14_ENST00000347642.3_Missense_Mutation_p.D376Y|RNF14_ENST00000394519.1_Missense_Mutation_p.D376Y|RNF14_ENST00000394514.2_Missense_Mutation_p.D250Y|RNF14_ENST00000394515.3_Missense_Mutation_p.D200Y|RNF14_ENST00000540015.1_Missense_Mutation_p.D73Y	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	376	Interaction with androgen receptor.				androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription, DNA-templated (GO:0045893)|protein ubiquitination (GO:0016567)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|small conjugating protein ligase activity (GO:0019787)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		AAGACTTTTGGATCAAAGGTA	0.378																																						uc003lly.2		NA																	0					0						c.(1126-1128)GAT>TAT		ring finger protein 14 isoform 1							81.0	81.0	81.0					5																	141363007		2203	4300	6503	SO:0001583	missense	9604				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding	g.chr5:141363007G>T	AF060544	CCDS4270.1, CCDS4271.1	5q23.3-q31.1	2008-02-05			ENSG00000013561	ENSG00000013561		"""RING-type (C3HC4) zinc fingers"""	10058	protein-coding gene	gene with protein product		605675				10085091, 10320776	Standard	NM_183399		Approved	ARA54, HFB30, TRIAD2	uc003lmc.3	Q9UBS8	OTTHUMG00000129660	ENST00000394520.2:c.1126G>T	5.37:g.141363007G>T	ENSP00000378028:p.Asp376Tyr					RNF14_uc003llz.2_Missense_Mutation_p.D376Y|RNF14_uc003lma.2_Missense_Mutation_p.D376Y|RNF14_uc003lmb.2_Missense_Mutation_p.D250Y|RNF14_uc003lmc.2_Missense_Mutation_p.D376Y|RNF14_uc011dbg.1_Missense_Mutation_p.D200Y|RNF14_uc011dbh.1_Missense_Mutation_p.D73Y|RNF14_uc003lmd.2_Missense_Mutation_p.D376Y	p.D376Y	NM_183399	NP_899646	Q9UBS8	RNF14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)	6	1165	+		all_hematologic(541;0.0536)|Ovarian(839;0.118)	376			Potential.|Interaction with androgen receptor.		A0AV26|A6NMR2|A8MTW5|B3KN72|B7ZLV2|D3DQE4|O94793|Q6IBV0	Missense_Mutation	SNP	ENST00000394520.2	37	c.1126G>T	CCDS4270.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.956964	0.73902	.	.	ENSG00000013561	ENST00000356143;ENST00000394520;ENST00000347642;ENST00000540015;ENST00000394514;ENST00000512565;ENST00000394515;ENST00000394519	D;D;D;D;D;D;D;D	0.91011	-2.36;-2.36;-2.36;-2.77;-2.35;-2.77;-1.95;-2.36	6.01	6.01	0.97437	.	0.088981	0.85682	D	0.000000	D	0.82802	0.5116	N	0.03608	-0.345	0.47374	D	0.999404	B;B;P	0.35714	0.009;0.019;0.517	B;B;B	0.36766	0.013;0.029;0.232	D	0.84463	0.0595	10	0.87932	D	0	.	20.5	0.99208	0.0:0.0:1.0:0.0	.	73;200;376	B7Z3J5;B7Z229;Q9UBS8	.;.;RNF14_HUMAN	Y	376;376;376;73;250;73;200;376	ENSP00000348462:D376Y;ENSP00000378028:D376Y;ENSP00000324956:D376Y;ENSP00000442490:D73Y;ENSP00000378022:D250Y;ENSP00000426832:D73Y;ENSP00000378023:D200Y;ENSP00000378027:D376Y	ENSP00000324956:D376Y	D	+	1	0	RNF14	141343191	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.582000	0.98214	2.851000	0.98039	0.650000	0.86243	GAT		0.378	RNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251860.2	NM_004290		3	22	1	0	0.004672	0.00487014	3	22				
PPARGC1B	133522	broad.mit.edu	37	5	149215963	149215963	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr5:149215963G>A	ENST00000309241.5	+	8	1977	c.1945G>A	c.(1945-1947)Ggg>Agg	p.G649R	PPARGC1B_ENST00000360453.4_Missense_Mutation_p.G610R|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.G649R|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.G585R	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	649					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGCCACCCCAGGGGCTGCCCA	0.602																																						uc003lrc.2		NA																	0					0						c.(1945-1947)GGG>AGG		peroxisome proliferator-activated receptor							67.0	71.0	69.0					5																	149215963		2203	4300	6503	SO:0001583	missense	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149215963G>A	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.1945G>A	5.37:g.149215963G>A	ENSP00000312649:p.Gly649Arg					PPARGC1B_uc003lrb.1_Missense_Mutation_p.G649R|PPARGC1B_uc003lrd.2_Missense_Mutation_p.G610R|PPARGC1B_uc003lrf.2_Missense_Mutation_p.G628R|PPARGC1B_uc003lre.1_Missense_Mutation_p.G628R	p.G649R	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		8	1987	+			649					A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	ENST00000309241.5	37	c.1945G>A	CCDS4298.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.015|0.015	-1.540875|-1.540875	0.00934|0.00934	.|.	.|.	ENSG00000155846|ENSG00000155846	ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750|ENST00000434684	T;T;T;T|.	0.08984|.	3.03;3.03;3.04;3.03|.	4.3|4.3	2.47|2.47	0.30058|0.30058	.|.	0.878706|.	0.09809|.	N|.	0.753086|.	T|T	0.37945|0.37945	0.1022|0.1022	L|L	0.39020|0.39020	1.185|1.185	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.15141|.	0.009;0.012;0.009;0.005;0.009|.	B;B;B;B;B|.	0.17433|.	0.014;0.018;0.014;0.006;0.016|.	T|T	0.23691|0.23691	-1.0181|-1.0181	10|5	0.15499|.	T|.	0.54|.	-7.7964|-7.7964	11.2273|11.2273	0.48890|0.48890	0.1605:0.0:0.8395:0.0|0.1605:0.0:0.8395:0.0	.|.	628;628;610;649;649|.	Q86YN6-2;Q86YN6-4;Q86YN6-5;Q86YN6;Q86YN6-3|.	.;.;.;PRGC2_HUMAN;.|.	R|K	610;649;649;585|335	ENSP00000353638:G610R;ENSP00000377855:G649R;ENSP00000312649:G649R;ENSP00000384403:G585R|.	ENSP00000312649:G649R|.	G|R	+|+	1|2	0|0	PPARGC1B|PPARGC1B	149196156|149196156	0.009000|0.009000	0.17119|0.17119	0.297000|0.297000	0.24988|0.24988	0.133000|0.133000	0.20885|0.20885	1.769000|1.769000	0.38522|0.38522	0.962000|0.962000	0.38057|0.38057	-0.366000|-0.366000	0.07423|0.07423	GGG|AGG		0.602	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		16	78	0	0	0	0	16	78				
ZBED8	63920	broad.mit.edu	37	5	159821116	159821116	+	Missense_Mutation	SNP	T	T	C	rs201215050		TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr5:159821116T>C	ENST00000408953.3	-	2	1889	c.1382A>G	c.(1381-1383)tAt>tGt	p.Y461C	C5orf54_ENST00000523213.1_Missense_Mutation_p.Y461C	NM_022090.3	NP_071373.2														breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						aatggaaaaatatccatggaa	0.303																																						uc003lye.1		NA																	0				pancreas(1)	1						c.(1381-1383)TAT>TGT		transposon-derived Buster3 transposase-like							76.0	78.0	77.0					5																	159821116		2203	4300	6503	SO:0001583	missense	63920							g.chr5:159821116T>C																												ENST00000408953.3:c.1382A>G	5.37:g.159821116T>C	ENSP00000386184:p.Tyr461Cys					C5orf54_uc003lyf.1_Missense_Mutation_p.Y461C	p.Y461C	NM_022090	NP_071373	Q8IZ13	CE054_HUMAN			2	1846	-			461						Missense_Mutation	SNP	ENST00000408953.3	37	c.1382A>G	CCDS34283.1	.	.	.	.	.	.	.	.	.	.	T	12.60	1.986386	0.35036	.	.	ENSG00000221886	ENST00000408953;ENST00000523213	T;T	0.22743	1.94;1.94	3.01	3.01	0.34805	.	.	.	.	.	T	0.35158	0.0922	L	0.49778	1.585	0.32892	D	0.511996	D	0.89917	1.0	D	0.87578	0.998	T	0.38351	-0.9665	9	0.40728	T	0.16	.	7.8388	0.29387	0.0:0.0:0.0:1.0	.	461	Q8IZ13	CE054_HUMAN	C	461	ENSP00000386184:Y461C;ENSP00000428831:Y461C	ENSP00000386184:Y461C	Y	-	2	0	C5orf54	159753694	0.994000	0.37717	0.997000	0.53966	0.912000	0.54170	2.327000	0.43858	1.629000	0.50426	0.533000	0.62120	TAT		0.303	C5orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374143.1			8	62	0	0	0	0	8	62				
CCNG1	900	broad.mit.edu	37	5	162866483	162866483	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr5:162866483C>T	ENST00000340828.2	+	2	445	c.221C>T	c.(220-222)tCt>tTt	p.S74F	CCNG1_ENST00000393929.1_Missense_Mutation_p.S74F|CCNG1_ENST00000511683.2_Intron|CCNG1_ENST00000504553.1_5'Flank|CCNG1_ENST00000512163.1_Intron|RP11-541P9.3_ENST00000458002.2_RNA|RP11-541P9.3_ENST00000503504.1_RNA|AC112205.1_ENST00000599797.1_Silent_p.E21E|CCNG1_ENST00000510664.1_Intron	NM_004060.3	NP_004051.1	P51959	CCNG1_HUMAN	cyclin G1	74					brain development (GO:0007420)|cell growth (GO:0016049)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to organonitrogen compound (GO:0010243)|syncytium formation (GO:0006949)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)		GAGACATTTTCTCTAGCTGTG	0.373																																						uc003lzb.2		NA																	0				lung(1)|kidney(1)	2						c.(220-222)TCT>TTT		cyclin G1							92.0	94.0	93.0					5																	162866483		2203	4300	6503	SO:0001583	missense	900				cell division|mitosis|regulation of cyclin-dependent protein kinase activity	nucleus		g.chr5:162866483C>T	D78341	CCDS4360.1	5q32-q34	2010-11-15			ENSG00000113328	ENSG00000113328			1592	protein-coding gene	gene with protein product		601578		CCNG		8954786, 8806701	Standard	NM_004060		Approved		uc003lzb.3	P51959	OTTHUMG00000130380	ENST00000340828.2:c.221C>T	5.37:g.162866483C>T	ENSP00000344635:p.Ser74Phe					CCNG1_uc011dek.1_Intron|CCNG1_uc011del.1_Intron|CCNG1_uc003lzc.2_RNA	p.S74F	NM_199246	NP_954854	P51959	CCNG1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)	3	355	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	74					B2R7B2|B4DLW7|D3DQK7|Q15757|Q96L32	Missense_Mutation	SNP	ENST00000340828.2	37	c.221C>T	CCDS4360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.5|22.5	4.301748|4.301748	0.81136|0.81136	.|.	.|.	ENSG00000113328|ENSG00000113328	ENST00000514590|ENST00000393929;ENST00000340828;ENST00000510097;ENST00000511490	.|T;T;T;T	.|0.14766	.|2.48;2.48;2.48;2.48	5.01|5.01	5.01|5.01	0.66863|0.66863	.|Cyclin, N-terminal (1);Cyclin-like (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.13157|0.13157	0.0319|0.0319	N|N	0.11313|0.11313	0.125|0.125	0.80722|0.80722	D|D	1|1	.|D	.|0.52996	.|0.957	.|P	.|0.52909	.|0.713	T|T	0.19516|0.19516	-1.0303|-1.0303	5|10	.|0.09590	.|T	.|0.72	-2.9316|-2.9316	18.3492|18.3492	0.90331|0.90331	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|74	.|P51959	.|CCNG1_HUMAN	F|F	34|74	.|ENSP00000377506:S74F;ENSP00000344635:S74F;ENSP00000423791:S74F;ENSP00000421132:S74F	.|ENSP00000344635:S74F	L|S	+|+	1|2	0|0	CCNG1|CCNG1	162799061|162799061	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	4.500000|4.500000	0.60387|0.60387	2.332000|2.332000	0.79248|0.79248	0.467000|0.467000	0.42956|0.42956	CTC|TCT		0.373	CCNG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252750.3	NM_004060		24	24	0	0	0	0	24	24				
FOXI1	2299	broad.mit.edu	37	5	169535531	169535531	+	Silent	SNP	T	T	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr5:169535531T>A	ENST00000306268.6	+	2	1114	c.1053T>A	c.(1051-1053)tcT>tcA	p.S351S	FOXI1_ENST00000449804.2_Silent_p.S256S			Q12951	FOXI1_HUMAN	forkhead box I1	351					embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATGGAGGATCTGTGCTCAGCC	0.582									Pendred syndrome																													uc003mai.3		NA																	0				breast(3)|central_nervous_system(1)	4						c.(1051-1053)TCT>TCA		forkhead box I1 isoform a							133.0	103.0	113.0					5																	169535531		2203	4300	6503	SO:0001819	synonymous_variant	2299	Pendred_syndrome	Familial Cancer Database	Goiter-Deafness syndrome	epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr5:169535531T>A	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"""Forkhead boxes"""	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.1053T>A	5.37:g.169535531T>A						FOXI1_uc003maj.3_Silent_p.S256S	p.S351S	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	1098	+	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	351					Q14518|Q66SR7|Q8N6L8	Silent	SNP	ENST00000306268.6	37	c.1053T>A	CCDS4372.1																																																																																				0.582	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	NM_144769, NM_012188		10	62	0	0	0	0	10	62				
TRIM10	10107	broad.mit.edu	37	6	30122152	30122152	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr6:30122152C>T	ENST00000449742.2	-	7	1115	c.1040G>A	c.(1039-1041)cGt>cAt	p.R347H	TRIM10_ENST00000376704.3_Missense_Mutation_p.R347H	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	347	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			ovary(1)	1						CCGGTCAAAACGTTGGGGGTT	0.602																																						uc003npo.3		NA																	0					0						c.(1039-1041)CGT>CAT		tripartite motif-containing 10 isoform 1							53.0	59.0	57.0					6																	30122152		1509	2707	4216	SO:0001583	missense	10107					cytoplasm	zinc ion binding	g.chr6:30122152C>T	Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10072	protein-coding gene	gene with protein product		605701	"""tripartite motif-containing 10"""	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.1040G>A	6.37:g.30122152C>T	ENSP00000397073:p.Arg347His					TRIM10_uc003npn.2_Missense_Mutation_p.R347H	p.R347H	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN			7	1116	-			347			B30.2/SPRY.		A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Missense_Mutation	SNP	ENST00000449742.2	37	c.1040G>A	CCDS34375.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322883	0.81580	.	.	ENSG00000204613	ENST00000449742;ENST00000376704;ENST00000376706	T;T	0.59638	0.25;0.25	6.01	5.15	0.70609	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.103441	0.44097	D	0.000488	T	0.77478	0.4136	H	0.98351	4.21	0.48040	D	0.999579	P;P	0.51057	0.919;0.941	B;P	0.55112	0.343;0.769	D	0.85959	0.1469	10	0.87932	D	0	.	13.1738	0.59615	0.0:0.9231:0.0:0.0769	.	347;347	Q9UDY6;Q9UDY6-2	TRI10_HUMAN;.	H	347	ENSP00000397073:R347H;ENSP00000365894:R347H	ENSP00000365894:R347H	R	-	2	0	TRIM10	30230131	0.255000	0.24002	0.995000	0.50966	0.567000	0.35839	4.570000	0.60872	1.547000	0.49401	0.643000	0.83706	CGT		0.602	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1			15	48	0	0	0	0	15	48				
MTCH1	23787	broad.mit.edu	37	6	36936732	36936732	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr6:36936732A>G	ENST00000373627.5	-	12	1241	c.1117T>C	c.(1117-1119)Tcc>Ccc	p.S373P	MTCH1_ENST00000373616.5_Missense_Mutation_p.S356P|MTCH1_ENST00000471737.1_5'UTR	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	373					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|neuronal ion channel clustering (GO:0045161)|positive regulation of apoptotic process (GO:0043065)|regulation of signal transduction (GO:0009966)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						AGCAGGCTGGAGCCTCGGAAG	0.562																																						uc003ond.1		NA																	0					0						c.(1117-1119)TCC>CCC		mitochondrial carrier homolog 1							78.0	70.0	73.0					6																	36936732		2203	4300	6503	SO:0001583	missense	23787				activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding	g.chr6:36936732A>G	AF151822	CCDS4828.1, CCDS64411.1	6p21.2	2013-05-22	2011-05-19		ENSG00000137409	ENSG00000137409		"""Solute carriers"""	17586	protein-coding gene	gene with protein product	"""solute carrier family 25, member 49"""	610449	"""mitochondrial carrier homolog 1 (C. elegans)"""			12377771	Standard	NM_014341		Approved	CGI-64, PSAP, SLC25A49	uc003ond.2	Q9NZJ7	OTTHUMG00000014614	ENST00000373627.5:c.1117T>C	6.37:g.36936732A>G	ENSP00000362730:p.Ser373Pro					MTCH1_uc003onc.1_Missense_Mutation_p.S356P|MTCH1_uc010jwo.1_RNA	p.S373P	NM_014341	NP_055156	Q9NZJ7	MTCH1_HUMAN			12	1117	-			373					A8KAX5|B2RCE3|Q6PK60|Q6UX45|Q7L465|Q9BW23|Q9NZR6|Q9UJZ5	Missense_Mutation	SNP	ENST00000373627.5	37	c.1117T>C		.	.	.	.	.	.	.	.	.	.	A	23.1	4.371049	0.82573	.	.	ENSG00000137409	ENST00000373616;ENST00000373627;ENST00000337855	T;T	0.78364	-1.17;-1.17	5.16	5.16	0.70880	Mitochondrial carrier domain (2);	2.951400	0.01758	N	0.030350	D	0.87071	0.6086	M	0.77103	2.36	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.75484	0.986;0.986	T	0.72843	-0.4170	10	0.72032	D	0.01	.	13.5751	0.61868	1.0:0.0:0.0:0.0	.	373;356	Q9NZJ7;Q9NZJ7-2	MTCH1_HUMAN;.	P	356;373;292	ENSP00000362718:S356P;ENSP00000362730:S373P	ENSP00000338712:S292P	S	-	1	0	MTCH1	37044710	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.964000	0.76061	1.955000	0.56771	0.533000	0.62120	TCC		0.562	MTCH1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040396.1	NM_014341		3	63	0	0	0	0	3	63				
DST	667	broad.mit.edu	37	6	56417926	56417926	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr6:56417926C>A	ENST00000361203.3	-	57	15038	c.15031G>T	c.(15031-15033)Gta>Tta	p.V5011L	DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.V5013L|DST_ENST00000370788.2_Missense_Mutation_p.V2925L|DST_ENST00000446842.2_Missense_Mutation_p.V4687L|DST_ENST00000244364.6_Missense_Mutation_p.V2599L|DST_ENST00000370754.5_Missense_Mutation_p.V5191L|DST_ENST00000421834.2_Missense_Mutation_p.V2925L			Q03001	DYST_HUMAN	dystonin	5011					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGTAATTCTACCATACCAAAG	0.403																																						uc003pdf.2		NA																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(9307-9309)GTA>TTA		dystonin isoform 2							160.0	158.0	158.0					6																	56417926		1872	4119	5991	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56417926C>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.15031G>T	6.37:g.56417926C>A	ENSP00000354508:p.Val5011Leu					DST_uc003pcz.3_Missense_Mutation_p.V2925L|DST_uc011dxj.1_Missense_Mutation_p.V2954L|DST_uc011dxk.1_Missense_Mutation_p.V2965L|DST_uc003pcy.3_Missense_Mutation_p.V2599L	p.V3103L	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		55	9335	-	Lung NSC(77;0.103)		5011					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.9307G>T		.	.	.	.	.	.	.	.	.	.	C	8.783	0.928722	0.18131	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39;1.39	5.76	3.92	0.45320	.	0.310516	0.22616	N	0.057768	T	0.04952	0.0133	N	0.10809	0.05	0.25322	N	0.989108	B;B;B;B;B	0.29988	0.264;0.002;0.002;0.0;0.001	B;B;B;B;B	0.20577	0.03;0.012;0.012;0.0;0.005	T	0.22208	-1.0223	9	0.05959	T	0.93	.	8.6274	0.33897	0.0:0.7297:0.1354:0.135	.	2925;5013;5191;5011;2599	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	L	2599;5191;5013;2925;4687;2925;5011	ENSP00000244364:V2599L;ENSP00000359790:V5191L;ENSP00000359805:V5013L;ENSP00000400883:V2925L;ENSP00000393645:V4687L;ENSP00000359824:V2925L;ENSP00000354508:V5011L	ENSP00000244364:V2599L	V	-	1	0	DST	56525885	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	0.774000	0.26675	1.534000	0.49203	0.655000	0.94253	GTA		0.403	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		86	204	1	0	4.25e-50	4.99e-50	86	204				
PRIM2	5558	broad.mit.edu	37	6	57472427	57472427	+	3'UTR	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr6:57472427G>T	ENST00000389488.2	+	0	1303				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		GATCTCTCCTGGAGGGATAAG	0.448																																						uc003pdx.2		NA																	0					0						c.(1216-1218)GGA>TGA		DNA primase polypeptide 2							177.0	165.0	169.0					6																	57472427		2019	4198	6217	SO:0001624	3_prime_UTR_variant	5558				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57472427G>T		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1300G>T	6.37:g.57472427G>T							p.G406*	NM_000947	NP_000938	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	13	1303	+			406					Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Nonsense_Mutation	SNP	ENST00000389488.2	37	c.1216G>T																																																																																					0.448	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	protein_coding	OTTHUMT00000043468.3	NM_000947		5	47	1	0	2.01e-06	2.25e-06	5	47				
TBX18	9096	broad.mit.edu	37	6	85472390	85472390	+	Silent	SNP	C	C	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr6:85472390C>G	ENST00000369663.5	-	2	706	c.369G>C	c.(367-369)gcG>gcC	p.A123A	TBX18_ENST00000606784.1_5'UTR|TBX18_ENST00000606521.1_5'UTR	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	123					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CCAGGGAGCGCGCCGGAGACC	0.697																																						uc003pkl.1		NA																	0				ovary(2)|pancreas(2)|lung(1)	5						c.(367-369)GCG>GCC		T-box 18							19.0	24.0	22.0					6																	85472390		2183	4282	6465	SO:0001819	synonymous_variant	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85472390C>G	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.369G>C	6.37:g.85472390C>G						TBX18_uc010kbq.1_5'UTR	p.A123A	NM_001080508	NP_001073977	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	2	369	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	123					A2RU13|Q7Z6U4|Q9UJI6	Silent	SNP	ENST00000369663.5	37	c.369G>C	CCDS34495.1																																																																																				0.697	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		7	35	0	0	0	0	7	35				
RRAGD	58528	broad.mit.edu	37	6	90097057	90097057	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr6:90097057A>T	ENST00000369415.4	-	2	677	c.401T>A	c.(400-402)aTc>aAc	p.I134N	RRAGD_ENST00000492783.1_5'UTR|RRAGD_ENST00000359203.3_Intron	NM_021244.4	NP_067067.1			Ras-related GTP binding D											breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		TCCCCGGAAGATCATCTCATA	0.498																																						uc003pnd.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(400-402)ATC>AAC		Ras-related GTP binding D							125.0	121.0	122.0					6																	90097057		2203	4300	6503	SO:0001583	missense	58528				cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity	g.chr6:90097057A>T	AF272036	CCDS5022.1	6q15-q16	2008-02-05			ENSG00000025039	ENSG00000025039			19903	protein-coding gene	gene with protein product		608268				11073942	Standard	NM_021244		Approved	DKFZP761H171, bA11D8.2.1	uc003pnd.4	Q9NQL2	OTTHUMG00000015200	ENST00000369415.4:c.401T>A	6.37:g.90097057A>T	ENSP00000358423:p.Ile134Asn					RRAGD_uc010kcc.2_Intron	p.I134N	NM_021244	NP_067067	Q9NQL2	RRAGD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0144)	2	684	-		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)	134						Missense_Mutation	SNP	ENST00000369415.4	37	c.401T>A	CCDS5022.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.331807	0.81801	.	.	ENSG00000025039	ENST00000369415	D	0.82526	-1.62	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.91355	0.7273	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93300	0.6676	10	0.87932	D	0	-20.86	15.197	0.73100	1.0:0.0:0.0:0.0	.	134	Q9NQL2	RRAGD_HUMAN	N	134	ENSP00000358423:I134N	ENSP00000358423:I134N	I	-	2	0	RRAGD	90153776	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.962000	0.93254	2.004000	0.58718	0.533000	0.62120	ATC		0.498	RRAGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041484.1	NM_021244		16	124	0	0	0	0	16	124				
GRM1	2911	broad.mit.edu	37	6	146351225	146351225	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr6:146351225A>T	ENST00000282753.1	+	1	807	c.572A>T	c.(571-573)gAc>gTc	p.D191V	GRM1_ENST00000361719.2_Missense_Mutation_p.D191V|GRM1_ENST00000392299.2_Missense_Mutation_p.D191V|GRM1_ENST00000492807.2_Missense_Mutation_p.D191V|GRM1_ENST00000507907.1_Missense_Mutation_p.D191V|GRM1_ENST00000355289.4_Missense_Mutation_p.D191V			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	191					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		ACAAGCATCGACCTGAGTGAC	0.507																																						uc010khw.1		NA																	0				lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(571-573)GAC>GTC		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						91.0	93.0	92.0					6																	146351225		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146351225A>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.572A>T	6.37:g.146351225A>T	ENSP00000282753:p.Asp191Val					GRM1_uc010khu.1_Missense_Mutation_p.D191V|GRM1_uc010khv.1_Missense_Mutation_p.D191V|GRM1_uc003qll.2_Missense_Mutation_p.D191V|GRM1_uc011edz.1_Missense_Mutation_p.D191V|GRM1_uc011eea.1_Missense_Mutation_p.D191V	p.D191V	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	2	1042	+		Ovarian(120;0.0387)	191			Extracellular (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.572A>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.159822	0.78226	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58;-1.58;-1.58	5.69	5.69	0.88448	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.86585	0.5968	L	0.48986	1.54	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.88594	0.3145	10	0.87932	D	0	.	15.5987	0.76609	1.0:0.0:0.0:0.0	.	191;191;186;191	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	V	191	ENSP00000354896:D191V;ENSP00000376119:D191V;ENSP00000424095:D191V;ENSP00000282753:D191V;ENSP00000347437:D191V;ENSP00000425599:D191V	ENSP00000282753:D191V	D	+	2	0	GRM1	146392918	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.339000	0.96797	2.163000	0.67991	0.459000	0.35465	GAC		0.507	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		49	65	0	0	0	0	49	65				
PLEKHG1	57480	broad.mit.edu	37	6	151054974	151054974	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr6:151054974A>C	ENST00000358517.2	+	2	368	c.157A>C	c.(157-159)Aaa>Caa	p.K53Q	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.K53Q			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	53							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		AGGGGCCATAAAACTGGAGCT	0.572																																						uc003qny.1		NA																	0				ovary(2)	2						c.(157-159)AAA>CAA		pleckstrin homology domain containing, family G							57.0	60.0	59.0					6																	151054974		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151054974A>C	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.157A>C	6.37:g.151054974A>C	ENSP00000351318:p.Lys53Gln					PLEKHG1_uc011eel.1_Missense_Mutation_p.K93Q|PLEKHG1_uc011eem.1_Missense_Mutation_p.K112Q|PLEKHG1_uc003qnz.2_Missense_Mutation_p.K53Q	p.K53Q	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	3	469	+			53					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.157A>C	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	A	16.41	3.114296	0.56505	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.61040	0.14;0.14	5.81	5.81	0.92471	.	0.097549	0.64402	D	0.000002	T	0.42471	0.1204	M	0.68317	2.08	0.20196	N	0.999928	P;P	0.43477	0.808;0.808	B;B	0.38458	0.274;0.274	T	0.47394	-0.9121	9	.	.	.	.	16.162	0.81727	1.0:0.0:0.0:0.0	.	53;53	Q5JYA6;Q9ULL1	.;PKHG1_HUMAN	Q	53	ENSP00000356297:K53Q;ENSP00000351318:K53Q	.	K	+	1	0	PLEKHG1	151096667	0.507000	0.26146	0.882000	0.34594	0.985000	0.73830	2.634000	0.46528	2.224000	0.72417	0.533000	0.62120	AAA		0.572	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			18	55	0	0	0	0	18	55				
RMND1	55005	broad.mit.edu	37	6	151766876	151766876	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr6:151766876C>A	ENST00000367303.4	-	2	193	c.71G>T	c.(70-72)aGa>aTa	p.R24I	RMND1_ENST00000336451.3_5'Flank|RMND1_ENST00000491268.1_5'UTR	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	24					translation (GO:0006412)	mitochondrion (GO:0005739)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		ATGACCGATTCTTCGGCACTG	0.403																																						uc003qoi.2		NA																	0					0						c.(70-72)AGA>ATA		required for meiotic nuclear division 1 homolog							63.0	56.0	58.0					6																	151766876		2203	4300	6503	SO:0001583	missense	55005							g.chr6:151766876C>A	AK000634	CCDS5232.1, CCDS75539.1	6q25.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000155906	ENSG00000155906			21176	protein-coding gene	gene with protein product		614917	"""chromosome 6 open reading frame 96"""	C6orf96			Standard	NM_001271937		Approved	bA351K16.3, FLJ20627, RMD1	uc003qoi.3	Q9NWS8	OTTHUMG00000015837	ENST00000367303.4:c.71G>T	6.37:g.151766876C>A	ENSP00000356272:p.Arg24Ile					RMND1_uc011eeq.1_5'Flank|RMND1_uc003qoj.2_Missense_Mutation_p.R24I|RMND1_uc011eer.1_Missense_Mutation_p.R24I	p.R24I	NM_017909	NP_060379	Q9NWS8	RMND1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)	2	251	-		Ovarian(120;0.125)	24					A8K8H4|Q0VDG6|Q5SZ48|Q5SZ83|Q6NSC5|Q96EN7	Missense_Mutation	SNP	ENST00000367303.4	37	c.71G>T	CCDS5232.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757776	0.49468	.	.	ENSG00000155906	ENST00000367303	T	0.51071	0.72	5.57	4.7	0.59300	.	0.121670	0.40908	D	0.000985	T	0.36331	0.0963	L	0.32530	0.975	0.26984	N	0.965291	D;P	0.57571	0.98;0.838	P;B	0.58331	0.837;0.364	T	0.25433	-1.0132	10	0.87932	D	0	-10.7679	9.798	0.40746	0.0:0.8399:0.0:0.1601	.	24;24	Q9NWS8-3;Q9NWS8	.;RMND1_HUMAN	I	24	ENSP00000356272:R24I	ENSP00000356272:R24I	R	-	2	0	RMND1	151808569	0.000000	0.05858	0.437000	0.26809	0.042000	0.13812	0.044000	0.13992	1.349000	0.45751	0.563000	0.77884	AGA		0.403	RMND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042718.2	NM_017909		14	34	1	0	4.37e-10	4.98e-10	14	34				
SNX8	29886	broad.mit.edu	37	7	2290629	2290629	+	IGR	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr7:2290629C>T	ENST00000222990.3	-	0	4727				NUDT1_ENST00000487426.1_3'UTR|NUDT1_ENST00000397046.1_Missense_Mutation_p.T155M|NUDT1_ENST00000397049.1_Missense_Mutation_p.T178M|NUDT1_ENST00000339737.2_Missense_Mutation_p.T155M|NUDT1_ENST00000397048.1_Missense_Mutation_p.T178M|NUDT1_ENST00000343985.4_Missense_Mutation_p.T178M|NUDT1_ENST00000356714.1_Missense_Mutation_p.T155M	NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8						early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)	early endosome membrane (GO:0031901)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)	p.T178M(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		GAGGTGGACACGGTCTAGCGG	0.602																																						uc003slp.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(532-534)ACG>ATG	Direct_reversal_of_damage|Modulation_of_nucleotide_pools	nudix-type motif 1 isoform p22							74.0	81.0	79.0					7																	2290629		2203	4300	6503	SO:0001628	intergenic_variant	4521				DNA protection|DNA repair|response to oxidative stress	cytoplasm	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding	g.chr7:2290629C>T	AF121858	CCDS5331.1	7p22.3	2010-08-05			ENSG00000106266	ENSG00000106266		"""Sorting nexins"""	14972	protein-coding gene	gene with protein product		614905					Standard	NM_013321		Approved	Mvp1	uc003slw.3	Q9Y5X2	OTTHUMG00000151512		7.37:g.2290629C>T						NUDT1_uc003slq.1_Missense_Mutation_p.T155M|NUDT1_uc003slr.1_Missense_Mutation_p.T155M|NUDT1_uc003sls.1_Missense_Mutation_p.T178M|NUDT1_uc003slt.1_Missense_Mutation_p.T155M|NUDT1_uc003slu.1_Missense_Mutation_p.T178M|NUDT1_uc003slv.1_Missense_Mutation_p.T155M	p.T178M	NM_198949	NP_945187	P36639	8ODP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)	5	635	+		Ovarian(82;0.0253)|Melanoma(862;0.155)	196					A4D207|Q96I67	Missense_Mutation	SNP	ENST00000222990.3	37	c.533C>T	CCDS5331.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.954134	0.34471	.	.	ENSG00000106268	ENST00000356714;ENST00000397049;ENST00000397046;ENST00000397048;ENST00000343985;ENST00000339737	T;T;T;T;T;T	0.33216	1.46;1.42;1.46;1.42;1.42;1.46	4.98	-6.51	0.01878	NUDIX hydrolase domain-like (1);	20.577700	0.00871	N	0.002027	T	0.24122	0.0584	L	0.47716	1.5	0.09310	N	1	P	0.44521	0.837	B	0.36719	0.231	T	0.48258	-0.9051	10	0.54805	T	0.06	-26.7378	9.1915	0.37202	0.5787:0.2741:0.0:0.1472	.	196	P36639	8ODP_HUMAN	M	155;178;155;178;178;155	ENSP00000349148:T155M;ENSP00000380242:T178M;ENSP00000380239:T155M;ENSP00000380241:T178M;ENSP00000339503:T178M;ENSP00000343439:T155M	ENSP00000343439:T155M	T	+	2	0	NUDT1	2257155	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.458000	0.06737	-1.146000	0.02854	0.462000	0.41574	ACG		0.602	SNX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322949.2			18	140	0	0	0	0	18	140				
SUGCT	79783	broad.mit.edu	37	7	40535977	40535977	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr7:40535977G>A	ENST00000335693.4	+	12	1125	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K	C7orf10_ENST00000309930.5_Missense_Mutation_p.E368K|C7orf10_ENST00000401647.2_Missense_Mutation_p.E320K	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		368					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						TGTATTTGCAGAACCTCAGGT	0.403																																						uc003thn.1		NA																	0				ovary(2)	2						c.(1081-1083)GAA>AAA		dermal papilla derived protein 13							101.0	96.0	97.0					7																	40535977		1863	4098	5961	SO:0001583	missense	79783						transferase activity	g.chr7:40535977G>A																												ENST00000335693.4:c.1102G>A	7.37:g.40535977G>A	ENSP00000338475:p.Glu368Lys					C7orf10_uc003thm.1_Missense_Mutation_p.E331K|C7orf10_uc003tho.1_Missense_Mutation_p.E313K	p.E361K	NM_024728	NP_079004	Q9HAC7	CG010_HUMAN			12	1126	+			368					A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	ENST00000335693.4	37	c.1081G>A	CCDS55105.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079402	0.76528	.	.	ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693	D;T;T	0.82711	-1.64;-0.07;-0.07	5.42	5.42	0.78866	CoA-transferase family III domain (1);	0.285780	0.37715	N	0.001965	T	0.81079	0.4748	L	0.39898	1.24	0.80722	D	1	B;B;P	0.35139	0.415;0.228;0.486	B;B;B	0.38225	0.098;0.098;0.268	T	0.82153	-0.0598	10	0.72032	D	0.01	-14.395	19.2243	0.93812	0.0:0.0:1.0:0.0	.	320;368;331	Q4KMW8;Q9HAC7;Q9HAC7-2	.;CG010_HUMAN;.	K	368;320;368	ENSP00000312054:E368K;ENSP00000385222:E320K;ENSP00000338475:E368K	ENSP00000312054:E368K	E	+	1	0	C7orf10	40502502	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.064000	0.76721	2.533000	0.85409	0.650000	0.86243	GAA		0.403	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1			4	27	0	0	0	0	4	27				
EGFR	1956	broad.mit.edu	37	7	55218998	55218998	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr7:55218998G>A	ENST00000275493.2	+	5	748	c.571G>A	c.(571-573)Gat>Aat	p.D191N	EGFR_ENST00000455089.1_Missense_Mutation_p.D146N|EGFR_ENST00000442591.1_Missense_Mutation_p.D191N|EGFR_ENST00000344576.2_Missense_Mutation_p.D191N|EGFR_ENST00000342916.3_Missense_Mutation_p.D191N|EGFR_ENST00000454757.2_Missense_Mutation_p.D138N|EGFR_ENST00000420316.2_Missense_Mutation_p.D191N	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	191			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CCAAAAGTGTGATCCAAGCTG	0.498		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		0		p.V30_R297>G(5)		lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(571-573)GAT>AAT		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						141.0	141.0	141.0					7																	55218998		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55218998G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.571G>A	7.37:g.55218998G>A	ENSP00000275493:p.Asp191Asn	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.2_Missense_Mutation_p.D191N|EGFR_uc003tqi.2_Missense_Mutation_p.D191N|EGFR_uc003tqj.2_Missense_Mutation_p.D191N|EGFR_uc010kzg.1_Missense_Mutation_p.D146N|EGFR_uc011kco.1_Missense_Mutation_p.D138N|EGFR_uc003tql.1_5'Flank	p.D191N	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		5	817	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		191			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.571G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.492147	0.26774	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757	T;D;D;D;D;D;D	0.82433	-0.07;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	6.03	5.15	0.70609	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.190695	0.53938	D	0.000055	T	0.79417	0.4442	M	0.64567	1.98	0.41672	D	0.989246	B;B;B;B;B	0.29590	0.002;0.0;0.25;0.022;0.003	B;B;B;B;B	0.32762	0.014;0.001;0.152;0.024;0.017	T	0.73940	-0.3824	10	0.19147	T	0.46	.	10.3657	0.44021	0.0735:0.1357:0.7908:0.0	.	146;191;191;191;191	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	N	146;191;61;191;191;191;191;138	ENSP00000415559:D146N;ENSP00000342376:D191N;ENSP00000345973:D191N;ENSP00000413843:D191N;ENSP00000275493:D191N;ENSP00000410031:D191N;ENSP00000395243:D138N	ENSP00000275493:D191N	D	+	1	0	EGFR	55186492	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	1.781000	0.38644	1.564000	0.49628	0.655000	0.94253	GAT		0.498	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		59	724	0	0	0	0	59	724				
AASS	10157	broad.mit.edu	37	7	121738533	121738533	+	Silent	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr7:121738533G>A	ENST00000393376.1	-	14	1721	c.1626C>T	c.(1624-1626)ttC>ttT	p.F542F	AASS_ENST00000417368.2_Silent_p.F542F|AASS_ENST00000473553.1_5'UTR			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	542	Saccharopine dehydrogenase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						TTGCCACCAAGAAGCCCAGCT	0.338																																						uc003vka.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1624-1626)TTC>TTT		aminoadipate-semialdehyde synthase precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						128.0	127.0	127.0					7																	121738533		2203	4300	6503	SO:0001819	synonymous_variant	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121738533G>A	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.1626C>T	7.37:g.121738533G>A						AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Silent_p.F542F|AASS_uc011knw.1_Silent_p.F30F	p.F542F	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN			14	1722	-			542			Saccharopine dehydrogenase.		O95462	Silent	SNP	ENST00000393376.1	37	c.1626C>T	CCDS5783.1																																																																																				0.338	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		13	48	0	0	0	0	13	48				
KIAA1549	57670	broad.mit.edu	37	7	138524925	138524926	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr7:138524925_138524926GC>TT	ENST00000422774.1	-	19	5598_5599	c.5550_5551GC>AA	c.(5548-5553)ggGCca>ggAAca	p.P1851T	KIAA1549_ENST00000242365.4_Missense_Mutation_p.P1801T|KIAA1549_ENST00000440172.1_Missense_Mutation_p.P1851T			Q9HCM3	K1549_HUMAN	KIAA1549	1851						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGCCAGCCTGGCCCCCCATACT	0.584			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	uc011kql.1		NA		Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(229)	0				central_nervous_system(229)|pancreas(1)	230						c.(5548-5553)GGGCCA>GGAACA		hypothetical protein LOC57670 isoform 1																																				SO:0001583	missense	57670					integral to membrane		g.chr7:138524925_138524926GC>TT		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.5550_5551delinsTT	7.37:g.138524925_138524926delinsTT	ENSP00000416040:p.Pro1851Thr					KIAA1549_uc011kqi.1_Missense_Mutation_p.P635T|KIAA1549_uc003vuk.3_Missense_Mutation_p.P1801T|KIAA1549_uc011kqj.1_Missense_Mutation_p.P1851T|KIAA1549_uc011kqk.1_Missense_Mutation_p.P635T	p.P1851T	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN			19	5599_5600	-			1851					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	DNP	ENST00000422774.1	37	c.5550_5551GC>AA	CCDS56513.1																																																																																				0.584	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			3	3	0	0	0	0	3	3				
CLCN1	1180	broad.mit.edu	37	7	143020479	143020479	+	Splice_Site	SNP	G	G	C			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr7:143020479G>C	ENST00000343257.2	+	6	861	c.774G>C	c.(772-774)gaG>gaC	p.E258D	CLCN1_ENST00000495612.1_Intron	NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	258					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GGGTATATGAGGTAAGGTTGA	0.602																																						uc003wcr.1		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(772-774)GAG>GAC		chloride channel 1, skeletal muscle							107.0	97.0	100.0					7																	143020479		2203	4300	6503	SO:0001630	splice_region_variant	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143020479G>C	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.774+1G>C	7.37:g.143020479G>C						CLCN1_uc011ktc.1_5'UTR|CLCN1_uc003wcs.1_RNA|CLCN1_uc010lox.1_Intron|CLCN1_uc010loy.1_Intron	p.E258D	NM_000083	NP_000074	P35523	CLCN1_HUMAN			6	861	+	Melanoma(164;0.205)		258					A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	c.774G>C	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	.	19.22	3.786326	0.70337	.	.	ENSG00000188037	ENST00000343257	D	0.92545	-3.06	4.27	4.27	0.50696	Chloride channel, core (2);	0.174805	0.49916	D	0.000121	D	0.90703	0.7083	L	0.43923	1.385	0.58432	D	0.99999	B	0.32467	0.372	B	0.39531	0.302	D	0.91387	0.5132	10	0.72032	D	0.01	.	16.9618	0.86274	0.0:0.0:1.0:0.0	.	258	P35523	CLCN1_HUMAN	D	258	ENSP00000339867:E258D	ENSP00000339867:E258D	E	+	3	2	CLCN1	142730601	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	9.512000	0.98008	2.219000	0.72066	0.650000	0.86243	GAG		0.602	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083	Missense_Mutation	16	63	0	0	0	0	16	63				
ZNF746	155061	broad.mit.edu	37	7	149191396	149191396	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr7:149191396C>A	ENST00000340622.3	-	2	503	c.223G>T	c.(223-225)Ggg>Tgg	p.G75W	ZNF746_ENST00000458143.2_Missense_Mutation_p.G75W|ZNF746_ENST00000461958.2_Missense_Mutation_p.G75W			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	75					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TGCAGCAGCCCGTACTCCTGC	0.652																																						uc003wfw.2		NA																	0				ovary(2)|breast(1)	3						c.(223-225)GGG>TGG		zinc finger protein 746 isoform 2							61.0	76.0	71.0					7																	149191396		2203	4298	6501	SO:0001583	missense	155061				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr7:149191396C>A	AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"""Zinc fingers, C2H2-type"", ""-"""	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.223G>T	7.37:g.149191396C>A	ENSP00000345140:p.Gly75Trp					ZNF746_uc010lpi.2_Missense_Mutation_p.G75W	p.G75W	NM_152557	NP_689770	Q6NUN9	ZN746_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		2	494	-	Melanoma(164;0.165)		75			Potential.		A8K6Z9|Q6ZRF9	Missense_Mutation	SNP	ENST00000340622.3	37	c.223G>T	CCDS5897.1	.	.	.	.	.	.	.	.	.	.	.	15.38	2.817582	0.50633	.	.	ENSG00000181220	ENST00000340622;ENST00000458143;ENST00000461958	T;T	0.24538	1.85;1.85	4.68	3.57	0.40892	.	0.148530	0.31519	N	0.007513	T	0.40423	0.1116	L	0.52905	1.665	0.30401	N	0.780007	D;D	0.89917	0.999;1.0	D;D	0.79108	0.992;0.992	T	0.31364	-0.9946	10	0.87932	D	0	-23.057	7.2536	0.26162	0.0:0.7832:0.0:0.2168	.	75;75	Q6NUN9-2;Q6NUN9	.;ZN746_HUMAN	W	75;75;62	ENSP00000345140:G75W;ENSP00000395007:G75W	ENSP00000345140:G75W	G	-	1	0	ZNF746	148822329	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	2.469000	0.45110	2.143000	0.66587	0.514000	0.50259	GGG		0.652	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352730.1	NM_152557		4	166	1	0	0.00909568	0.00937678	4	166				
MICU3	286097	broad.mit.edu	37	8	16963031	16963031	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr8:16963031A>G	ENST00000318063.5	+	11	1237	c.1195A>G	c.(1195-1197)Aca>Gca	p.T399A	MICU3_ENST00000519866.1_3'UTR	NM_181723.2	NP_859074.1	Q86XE3	MICU3_HUMAN	mitochondrial calcium uptake family, member 3	399						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)										TTTACGATATACAAATGTGGA	0.303																																						uc003wxd.2		NA																	0				skin(1)	1						c.(1195-1197)ACA>GCA		EF-hand domain family, member A2							61.0	63.0	63.0					8																	16963031		2201	4298	6499	SO:0001583	missense	286097					integral to membrane	calcium ion binding	g.chr8:16963031A>G	BC032868	CCDS5999.1	8p22	2013-03-26	2013-03-26	2013-03-14	ENSG00000155970	ENSG00000155970		"""EF-hand domain containing"""	27820	protein-coding gene	gene with protein product		610633	"""EF hand domain family A2"", ""EF-hand domain family, member A2"""	EFHA2		23409044	Standard	NM_181723		Approved	DKFZp313A0139	uc003wxd.2	Q86XE3	OTTHUMG00000096965	ENST00000318063.5:c.1195A>G	8.37:g.16963031A>G	ENSP00000321455:p.Thr399Ala						p.T399A	NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN		Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)	11	1237	+			399					Q8IYZ3	Missense_Mutation	SNP	ENST00000318063.5	37	c.1195A>G	CCDS5999.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.3|22.3	4.274163|4.274163	0.80580|0.80580	.|.	.|.	ENSG00000155970|ENSG00000155970	ENST00000519044|ENST00000318063	.|T	.|0.79749	.|-1.3	4.99|4.99	4.99|4.99	0.66335|0.66335	.|EF-hand-like domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80696|0.80696	0.4672|0.4672	L|L	0.28054|0.28054	0.825|0.825	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.70935	.|0.971	T|T	0.75116|0.75116	-0.3431|-0.3431	5|10	.|0.07030	.|T	.|0.85	-17.0456|-17.0456	15.4079|15.4079	0.74893|0.74893	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|399	.|Q86XE3	.|EFHA2_HUMAN	M|A	243|399	.|ENSP00000321455:T399A	.|ENSP00000321455:T399A	I|T	+|+	3|1	3|0	EFHA2|EFHA2	17007402|17007402	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.910000|8.910000	0.92685|0.92685	2.171000|2.171000	0.68590|0.68590	0.528000|0.528000	0.53228|0.53228	ATA|ACA		0.303	MICU3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214031.1	NM_181723		4	19	0	0	0	0	4	19				
ADAM2	2515	broad.mit.edu	37	8	39613286	39613286	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr8:39613286C>G	ENST00000265708.4	-	16	1861	c.1758G>C	c.(1756-1758)aaG>aaC	p.K586N	ADAM2_ENST00000379853.2_Missense_Mutation_p.K430N|ADAM2_ENST00000521880.1_Intron|AC136365.1_ENST00000408091.1_RNA|ADAM2_ENST00000347580.4_Missense_Mutation_p.K567N	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	586	Cys-rich.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TTATCCACATCTTTTGGCTGT	0.348																																						uc003xnj.2		NA																	0				ovary(1)|lung(1)	2						c.(1756-1758)AAG>AAC		ADAM metallopeptidase domain 2 proprotein							94.0	90.0	92.0					8																	39613286		2202	4300	6502	SO:0001583	missense	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39613286C>G	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1758G>C	8.37:g.39613286C>G	ENSP00000265708:p.Lys586Asn					ADAM2_uc003xnk.2_Missense_Mutation_p.K567N|ADAM2_uc011lck.1_Intron|ADAM2_uc003xnl.2_Missense_Mutation_p.K430N	p.K586N	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	16	1833	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	586			Extracellular (Potential).|Cys-rich.		P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	c.1758G>C	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	C	6.171	0.399664	0.11696	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708	T;T;T	0.22743	1.94;4.4;1.94	4.39	-8.79	0.00820	ADAM, cysteine-rich (2);	.	.	.	.	T	0.14442	0.0349	M	0.72479	2.2	0.36540	D	0.871255	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.18263	0.005;0.012;0.021	T	0.30416	-0.9979	8	.	.	.	.	0.4487	0.00497	0.3983:0.1549:0.2004:0.2464	.	430;567;586	Q6P2G0;Q99965-2;Q99965	.;.;ADAM2_HUMAN	N	567;430;586	ENSP00000343854:K567N;ENSP00000369182:K430N;ENSP00000265708:K586N	.	K	-	3	2	ADAM2	39732443	0.000000	0.05858	0.002000	0.10522	0.018000	0.09664	-2.836000	0.00740	-1.453000	0.01928	-0.844000	0.03045	AAG		0.348	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		25	10	0	0	0	0	25	10				
POTEA	340441	broad.mit.edu	37	8	43147924	43147924	+	RNA	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr8:43147924G>T	ENST00000522175.2	+	0	299							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACAAGAAGAAGAGGTAACCGG	0.627																																						uc003xpz.1		NA																	0				ovary(1)	1						c.(295-297)AAG>AAT		POTE ankyrin domain family, member A isoform 2							34.0	40.0	38.0					8																	43147924		2187	4292	6479			340441							g.chr8:43147924G>T	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43147924G>T						POTEA_uc003xqa.1_Missense_Mutation_p.K99N	p.K99N	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN			1	340	+			99			ANK 1.		A6ND17|A6ND71|Q6S8J6	Missense_Mutation	SNP	ENST00000522175.2	37	c.297G>T																																																																																					0.627	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		9	23	1	0	0.000673444	0.000718033	9	23				
ZFHX4	79776	broad.mit.edu	37	8	77763747	77763747	+	Silent	SNP	G	G	C	rs372556648		TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr8:77763747G>C	ENST00000521891.2	+	10	5038	c.4590G>C	c.(4588-4590)acG>acC	p.T1530T	ZFHX4_ENST00000518282.1_Silent_p.T1504T|ZFHX4_ENST00000050961.6_Silent_p.T1485T|ZFHX4_ENST00000455469.2_Silent_p.T1485T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1485					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCAATTTTACGATGGAAAAAT	0.403										HNSCC(33;0.089)																												uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(4453-4455)ACG>ACC		zinc finger homeodomain 4							46.0	44.0	45.0					8																	77763747		1879	4116	5995	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77763747G>C		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4590G>C	8.37:g.77763747G>C		HNSCC(33;0.089)				ZFHX4_uc003yau.1_Silent_p.T1530T|ZFHX4_uc003yaw.1_Silent_p.T1485T	p.T1485T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	4842	+			1485					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.4455G>C	CCDS47878.2																																																																																				0.403	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		4	45	0	0	0	0	4	45				
MMP16	4325	broad.mit.edu	37	8	89128802	89128802	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr8:89128802T>G	ENST00000286614.6	-	6	1298	c.1017A>C	c.(1015-1017)aaA>aaC	p.K339N	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	339					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	AGATGTTGGGTTTGGCTCCGG	0.483																																						uc003yeb.3		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						c.(1015-1017)AAA>AAC		matrix metalloproteinase 16 isoform 1							124.0	122.0	123.0					8																	89128802		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89128802T>G	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.1017A>C	8.37:g.89128802T>G	ENSP00000286614:p.Lys339Asn					MMP16_uc003yec.2_Missense_Mutation_p.K339N	p.K339N	NM_005941	NP_005932	P51512	MMP16_HUMAN			6	1299	-			339			Extracellular (Potential).		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.1017A>C	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	T	15.61	2.884819	0.51908	.	.	ENSG00000156103	ENST00000286614	T	0.07800	3.16	5.79	1.94	0.25998	Hemopexin/matrixin (1);	0.041417	0.85682	D	0.000000	T	0.22936	0.0554	M	0.77820	2.39	0.58432	D	0.999999	D;P	0.76494	0.999;0.91	D;P	0.78314	0.991;0.536	T	0.05099	-1.0906	10	0.17832	T	0.49	.	9.7976	0.40744	0.0:0.3685:0.0:0.6315	.	339;339	P51512-2;P51512	.;MMP16_HUMAN	N	339	ENSP00000286614:K339N	ENSP00000286614:K339N	K	-	3	2	MMP16	89197918	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.545000	0.23268	0.090000	0.17273	0.455000	0.32223	AAA		0.483	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		44	56	0	0	0	0	44	56				
CSMD3	114788	broad.mit.edu	37	8	113256689	113256689	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr8:113256689C>T	ENST00000297405.5	-	65	10580	c.10336G>A	c.(10336-10338)Ggt>Agt	p.G3446S	CSMD3_ENST00000455883.2_Missense_Mutation_p.G3277S|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3406S|CSMD3_ENST00000352409.3_Missense_Mutation_p.G3376S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3446	Sushi 28. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCTGTTCCACCTGCTAAGAAG	0.428										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(10336-10338)GGT>AGT		CUB and Sushi multiple domains 3 isoform 1							132.0	116.0	122.0					8																	113256689		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113256689C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10336G>A	8.37:g.113256689C>T	ENSP00000297405:p.Gly3446Ser	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.G2648S|CSMD3_uc003ynt.2_Missense_Mutation_p.G3406S|CSMD3_uc011lhx.1_Missense_Mutation_p.G3277S	p.G3446S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			65	10495	-			3446			Extracellular (Potential).|Sushi 28.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10336G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	35	5.451423	0.96205	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59	5.37	5.37	0.77165	Complement control module (2);Sushi/SCR/CCP (3);	0.154736	0.42053	D	0.000780	D	0.86748	0.6007	M	0.86805	2.84	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.97110	0.993;1.0;0.99	D	0.87631	0.2516	10	0.56958	D	0.05	.	19.3052	0.94158	0.0:1.0:0.0:0.0	.	3277;3446;3406	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	S	3406;3446;2716;3277;3376	ENSP00000345799:G3406S;ENSP00000297405:G3446S;ENSP00000341558:G2716S;ENSP00000412263:G3277S;ENSP00000343124:G3376S	ENSP00000297405:G3446S	G	-	1	0	CSMD3	113325865	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.458000	0.80787	2.793000	0.96121	0.591000	0.81541	GGT		0.428	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		12	59	0	0	0	0	12	59				
CSMD3	114788	broad.mit.edu	37	8	113317029	113317029	+	Silent	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr8:113317029A>G	ENST00000297405.5	-	52	8431	c.8187T>C	c.(8185-8187)taT>taC	p.Y2729Y	CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000343508.3_Silent_p.Y2689Y|CSMD3_ENST00000352409.3_Silent_p.Y2659Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2729	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTAGTCCATGATAACCAGGGT	0.408										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(8185-8187)TAT>TAC		CUB and Sushi multiple domains 3 isoform 1							130.0	113.0	119.0					8																	113317029		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113317029A>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8187T>C	8.37:g.113317029A>G		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.Y1931Y|CSMD3_uc003ynt.2_Silent_p.Y2689Y|CSMD3_uc011lhx.1_Intron	p.Y2729Y	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			52	8346	-			2729			Extracellular (Potential).|Sushi 16.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.8187T>C	CCDS6315.1																																																																																				0.408	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		9	47	0	0	0	0	9	47				
TRMT12	55039	broad.mit.edu	37	8	125463385	125463385	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr8:125463385G>A	ENST00000328599.3	+	1	338	c.217G>A	c.(217-219)Gag>Aag	p.E73K	TRMT12_ENST00000521443.1_3'UTR	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	73					tRNA processing (GO:0008033)		transferase activity (GO:0016740)			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GCACCTGCAGGAGCTGAGGAA	0.592																																						uc003yra.3		NA																	0				upper_aerodigestive_tract(1)	1						c.(217-219)GAG>AAG		homolog of yeast tRNA methyltransferase 12							46.0	46.0	46.0					8																	125463385		2203	4300	6503	SO:0001583	missense	55039				tRNA processing		methyltransferase activity	g.chr8:125463385G>A	AF313041	CCDS6349.1	8q24.13	2011-05-09	2006-11-16		ENSG00000183665	ENSG00000183665			26091	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 2"""	611244	"""tRNA methyltranferase 12 homolog (S. cerevisiae)"""			16005430, 17150819	Standard	NM_017956		Approved	FLJ20772, Trm12, TYW2	uc003yra.4	Q53H54	OTTHUMG00000165022	ENST00000328599.3:c.217G>A	8.37:g.125463385G>A	ENSP00000329858:p.Glu73Lys						p.E73K	NM_017956	NP_060426	Q53H54	TYW2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		1	338	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		73					Q6PKB9|Q96F21|Q9NWK6	Missense_Mutation	SNP	ENST00000328599.3	37	c.217G>A	CCDS6349.1	.	.	.	.	.	.	.	.	.	.	G	6.836	0.523398	0.13066	.	.	ENSG00000183665	ENST00000328599	T	0.45668	0.89	4.87	3.04	0.35103	.	0.261589	0.39615	N	0.001301	T	0.30792	0.0776	L	0.60455	1.87	0.28040	N	0.9338	B	0.23442	0.085	B	0.14023	0.01	T	0.27054	-1.0085	10	0.07644	T	0.81	-12.8108	7.3595	0.26737	0.0938:0.1696:0.7366:0.0	.	73	Q53H54	TYW2_HUMAN	K	73	ENSP00000329858:E73K	ENSP00000329858:E73K	E	+	1	0	TRMT12	125532566	0.716000	0.27956	0.948000	0.38648	0.149000	0.21700	1.951000	0.40333	0.711000	0.32018	-0.300000	0.09419	GAG		0.592	TRMT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381465.1	NM_017956		8	44	0	0	0	0	8	44				
CDKN2A	1029	broad.mit.edu	37	9	21970971	21970971	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr9:21970971G>T	ENST00000304494.5	-	2	657	c.387C>A	c.(385-387)taC>taA	p.Y129*	CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.Y78*|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.Y78*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.Y129*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.Y78*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.Y129*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579122.1_Intron|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.Y78*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.Y78*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	129					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(13)|p.Y129*(7)|p.R128fs*12(3)|p.R128fs*9(2)|p.0(1)|p.A118fs*10(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCGCGCGCAGGTACCGTGCGA	0.682		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1342	Whole gene deletion(1316)|Unknown(13)|Substitution - Nonsense(7)|Deletion - Frameshift(6)	p.0?(1112)|p.?(13)|p.Y129*(5)|p.R128fs*12(3)|p.Y129C(2)|p.R128fs*9(2)|p.Y129H(1)|p.A118fs*10(1)	haematopoietic_and_lymphoid_tissue(279)|skin(169)|central_nervous_system(164)|lung(143)|urinary_tract(90)|bone(73)|soft_tissue(57)|upper_aerodigestive_tract(53)|pleura(51)|oesophagus(50)|ovary(34)|kidney(30)|pancreas(30)|breast(30)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CI034363	CDKN2A	I		c.(385-387)TAC>TAA		cyclin-dependent kinase inhibitor 2A isoform 1							29.0	31.0	31.0					9																	21970971		2203	4300	6503	SO:0001587	stop_gained	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21970971G>T	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.387C>A	9.37:g.21970971G>T	ENSP00000307101:p.Tyr129*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_3'UTR	p.Y129*	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	599	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	129			ANK 4.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.387C>A	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.917035	0.92249	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	.	.	.	5.77	0.0236	0.14138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.9364	9.3841	0.38331	0.4052:0.0:0.5948:0.0	.	.	.	.	X	129	.	ENSP00000307101:Y129X	Y	-	3	2	CDKN2A	21960971	1.000000	0.71417	0.964000	0.40570	0.387000	0.30353	1.714000	0.37961	-0.027000	0.13873	0.655000	0.94253	TAC		0.682	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		20	12	1	0	1.56e-14	1.81e-14	20	12				
REPS2	9185	broad.mit.edu	37	X	17047658	17047658	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chrX:17047658A>G	ENST00000357277.3	+	5	854	c.683A>G	c.(682-684)gAa>gGa	p.E228G	REPS2_ENST00000380064.4_Missense_Mutation_p.E88G|REPS2_ENST00000303843.7_Missense_Mutation_p.E227G	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	228					epidermal growth factor receptor signaling pathway (GO:0007173)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					GCACCTTATGAAGCTAGGCAG	0.483																																						uc004cxv.1		NA																	0				skin(2)|central_nervous_system(1)	3						c.(682-684)GAA>GGA		RALBP1 associated Eps domain containing 2							86.0	77.0	80.0					X																	17047658		2203	4300	6503	SO:0001583	missense	9185				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding	g.chrX:17047658A>G	AF010233	CCDS14180.2, CCDS43919.1	Xp22.2	2013-01-10			ENSG00000169891	ENSG00000169891		"""EF-hand domain containing"""	9963	protein-coding gene	gene with protein product		300317				9422736, 9928989	Standard	NM_001080975		Approved	POB1	uc004cxv.1	Q8NFH8	OTTHUMG00000021199	ENST00000357277.3:c.683A>G	X.37:g.17047658A>G	ENSP00000349824:p.Glu228Gly					REPS2_uc004cxw.1_Missense_Mutation_p.E227G|REPS2_uc011miw.1_Missense_Mutation_p.E87G	p.E228G	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN			5	854	+	Hepatocellular(33;0.183)		228					A6PWZ6|O43428|Q5JNZ8|Q8NFI5	Missense_Mutation	SNP	ENST00000357277.3	37	c.683A>G	CCDS14180.2	.	.	.	.	.	.	.	.	.	.	A	13.65	2.299055	0.40694	.	.	ENSG00000169891	ENST00000357277;ENST00000380063;ENST00000303843;ENST00000380064	T;T;T	0.34275	1.42;1.39;1.37	5.72	5.72	0.89469	.	0.086842	0.49916	D	0.000138	T	0.34774	0.0909	L	0.29908	0.895	0.47037	D	0.99929	P;P;P	0.48694	0.518;0.911;0.914	B;P;P	0.49561	0.147;0.615;0.51	T	0.05616	-1.0874	10	0.22109	T	0.4	-7.3182	13.2698	0.60153	1.0:0.0:0.0:0.0	.	88;227;228	B4DQQ8;Q8NFH8-4;Q8NFH8	.;.;REPS2_HUMAN	G	228;228;227;88	ENSP00000349824:E228G;ENSP00000306033:E227G;ENSP00000369404:E88G	ENSP00000306033:E227G	E	+	2	0	REPS2	16957579	1.000000	0.71417	1.000000	0.80357	0.377000	0.30045	5.191000	0.65110	1.930000	0.55929	0.441000	0.28932	GAA		0.483	REPS2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316778.1	NM_004726		3	57	0	0	0	0	3	57				
CDKL5	6792	broad.mit.edu	37	X	18646534	18646534	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chrX:18646534C>T	ENST00000379989.3	+	19	2825	c.2540C>T	c.(2539-2541)tCg>tTg	p.S847L	CDKL5_ENST00000379996.3_Missense_Mutation_p.S847L	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	847					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CATCTCTCTTCGGCCTCAAAT	0.483																																						uc004cym.2		NA																	0				ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6						c.(2539-2541)TCG>TTG		cyclin-dependent kinase-like 5							249.0	260.0	256.0					X																	18646534		2203	4300	6503	SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18646534C>T	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.2540C>T	X.37:g.18646534C>T	ENSP00000369325:p.Ser847Leu					CDKL5_uc004cyn.2_Missense_Mutation_p.S847L	p.S847L	NM_003159	NP_003150	O76039	CDKL5_HUMAN			18	2793	+	Hepatocellular(33;0.183)		847					G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.2540C>T	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.073373	0.36566	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.74632	-0.86;-0.86	5.73	5.73	0.89815	.	0.123818	0.56097	D	0.000027	T	0.63486	0.2515	L	0.27053	0.805	0.38937	D	0.958075	P	0.42161	0.772	B	0.35114	0.196	T	0.71849	-0.4468	10	0.87932	D	0	-12.5107	17.4831	0.87679	0.0:1.0:0.0:0.0	.	847	O76039	CDKL5_HUMAN	L	847	ENSP00000369332:S847L;ENSP00000369325:S847L	ENSP00000369325:S847L	S	+	2	0	CDKL5	18556455	1.000000	0.71417	0.936000	0.37596	0.274000	0.26718	6.868000	0.75516	2.398000	0.81561	0.594000	0.82650	TCG		0.483	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		63	93	0	0	0	0	63	93				
GABRQ	55879	broad.mit.edu	37	X	151818953	151818953	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chrX:151818953C>T	ENST00000370306.2	+	7	831	c.811C>T	c.(811-813)Caa>Taa	p.Q271*		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	271					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTACCTTGTGCAAGTCTACTG	0.488																																						uc004ffp.1		NA																	0				ovary(2)|pancreas(1)	3						c.(811-813)CAA>TAA		gamma-aminobutyric acid (GABA) receptor, theta							364.0	295.0	318.0					X																	151818953		2203	4300	6503	SO:0001587	stop_gained	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	g.chrX:151818953C>T	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.811C>T	X.37:g.151818953C>T	ENSP00000359329:p.Gln271*						p.Q271*	NM_018558	NP_061028	Q9UN88	GBRT_HUMAN			7	831	+	Acute lymphoblastic leukemia(192;6.56e-05)		271			Helical; (Potential).		A6NFN1|Q32MB4|Q9NZK8	Nonsense_Mutation	SNP	ENST00000370306.2	37	c.811C>T	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.706868	0.89018	.	.	ENSG00000147402	ENST00000370306	.	.	.	6.01	6.01	0.97437	.	0.136054	0.34531	N	0.003900	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.607	0.84832	0.0:1.0:0.0:0.0	.	.	.	.	X	271	.	ENSP00000359329:Q271X	Q	+	1	0	GABRQ	151569609	1.000000	0.71417	0.345000	0.25642	0.271000	0.26615	6.052000	0.71080	2.530000	0.85305	0.556000	0.70494	CAA		0.488	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		209	67	0	0	0	0	209	67				
PCDH15	65217	broad.mit.edu	37	10	55955582	55955594	+	Frame_Shift_Del	DEL	TTTTCATCCAGTA	TTTTCATCCAGTA	-			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr10:55955582_55955594delTTTTCATCCAGTA	ENST00000320301.6	-	11	1548_1560	c.1154_1166delTACTGGATGAAAA	c.(1153-1167)atactggatgaaaacfs	p.ILDEN385fs	PCDH15_ENST00000437009.1_Frame_Shift_Del_p.ILDEN385fs|PCDH15_ENST00000361849.3_Frame_Shift_Del_p.ILDEN385fs|PCDH15_ENST00000395440.1_Frame_Shift_Del_p.ILDEN385fs|PCDH15_ENST00000395445.1_Frame_Shift_Del_p.ILDEN385fs|PCDH15_ENST00000409834.1_5'UTR|PCDH15_ENST00000395432.2_Frame_Shift_Del_p.ILDEN348fs|PCDH15_ENST00000395446.1_Frame_Shift_Del_p.ILDEN385fs|PCDH15_ENST00000395430.1_Frame_Shift_Del_p.ILDEN385fs|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Frame_Shift_Del_p.ILDEN385fs|PCDH15_ENST00000373957.3_Frame_Shift_Del_p.ILDEN363fs|PCDH15_ENST00000414778.1_Frame_Shift_Del_p.ILDEN390fs|PCDH15_ENST00000373955.1_Frame_Shift_Del_p.ILDEN385fs|PCDH15_ENST00000395433.1_Frame_Shift_Del_p.ILDEN363fs|PCDH15_ENST00000373965.2_Frame_Shift_Del_p.ILDEN385fs	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	385	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.E393K(2)|p.E388K(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACTTTGATTGTTTTCATCCAGTATTTCAATGTG	0.39										HNSCC(58;0.16)																												uc001jju.1		NA																	4	Substitution - Missense(4)		cervix(4)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(1153-1167)ATACTGGATGAAAACfs		protocadherin 15 isoform CD1-4 precursor																																				SO:0001589	frameshift_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55955582_55955594delTTTTCATCCAGTA	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1154_1166delTACTGGATGAAAA	10.37:g.55955582_55955594delTTTTCATCCAGTA	ENSP00000322604:p.Ile385fs	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Frame_Shift_Del_p.I390fs|PCDH15_uc010qhr.1_Frame_Shift_Del_p.I385fs|PCDH15_uc010qhs.1_Frame_Shift_Del_p.I390fs|PCDH15_uc010qht.1_Frame_Shift_Del_p.I385fs|PCDH15_uc010qhu.1_Frame_Shift_Del_p.I385fs|PCDH15_uc001jjv.1_Frame_Shift_Del_p.I363fs|PCDH15_uc010qhv.1_Frame_Shift_Del_p.I385fs|PCDH15_uc010qhw.1_Frame_Shift_Del_p.I348fs|PCDH15_uc010qhx.1_Frame_Shift_Del_p.I385fs|PCDH15_uc010qhy.1_Frame_Shift_Del_p.I390fs|PCDH15_uc010qhz.1_Frame_Shift_Del_p.I385fs|PCDH15_uc010qia.1_Frame_Shift_Del_p.I363fs|PCDH15_uc010qib.1_Frame_Shift_Del_p.I363fs|PCDH15_uc001jjw.2_Frame_Shift_Del_p.I385fs	p.I385fs	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			11	1549_1561	-		Melanoma(3;0.117)|Lung SC(717;0.238)	385_389			Cadherin 3.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Frame_Shift_Del	DEL	ENST00000320301.6	37	c.1154_1166delTACTGGATGAAAA	CCDS7248.1																																																																																				0.390	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		7	47	NA	NA	NA	NA	7	47	---	---	---	---
OCA2	4948	broad.mit.edu	37	15	28200305	28200305	+	Splice_Site	DEL	T	T	-			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr15:28200305delT	ENST00000354638.3	-	17	1996	c.1841delA	c.(1840-1842)aag>ag	p.K614fs	OCA2_ENST00000382996.2_Splice_Site_p.K614fs|OCA2_ENST00000353809.5_Splice_Site_p.K590fs	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	614			K -> E (in OCA2). {ECO:0000269|PubMed:10987646}.|K -> N (in OCA2).		cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GCTGGGTACCTTTTTTTGGAG	0.443									Oculocutaneous Albinism																													uc001zbh.3		NA																	0				ovary(3)|breast(1)|pancreas(1)	5	GRCh37	CD000269	OCA2	D		c.(1840-1842)AAGfs		oculocutaneous albinism II							224.0	217.0	219.0					15																	28200305		2203	4300	6503	SO:0001630	splice_region_variant	4948	Oculocutaneous_Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28200305delT		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1842+1A>-	15.37:g.28200305delT						OCA2_uc010ayv.2_Frame_Shift_Del_p.K590fs	p.K614fs	NM_000275	NP_000266	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	17	1951	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	614		K -> N (in OCA2).|K -> E (in OCA2).	Cytoplasmic (Potential).		Q15211|Q15212|Q96EN1|Q9UMI5	Frame_Shift_Del	DEL	ENST00000354638.3	37	c.1841delA	CCDS10020.1																																																																																				0.443	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275	Frame_Shift_Del	8	177	NA	NA	NA	NA	8	177	---	---	---	---
MAP1A	4130	broad.mit.edu	37	15	43815715	43815716	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr15:43815715_43815716insA	ENST00000300231.5	+	4	2494_2495	c.2044_2045insA	c.(2044-2046)caafs	p.Q682fs	MAP1A_ENST00000399453.1_Frame_Shift_Ins_p.Q682fs|MAP1A_ENST00000382031.1_Frame_Shift_Ins_p.Q920fs			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	682				Q -> P (in Ref. 1; AAB41132/AAB41133). {ECO:0000305}.	microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGGTTTTTACCAAAAACATATG	0.515																																						uc001zrt.2		NA																	0				ovary(3)|breast(3)|pancreas(2)|skin(1)	9						c.(2044-2046)CAAfs		microtubule-associated protein 1A	Estramustine(DB01196)																																			SO:0001589	frameshift_variant	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43815715_43815716insA	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.2049dupA	15.37:g.43815720_43815720dupA	ENSP00000300231:p.Gln682fs						p.Q682fs	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	4	2511_2512	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	682	Q -> P (in Ref. 1; AAB41132/AAB41133).				O95643|Q12973|Q15882|Q9UJT4	Frame_Shift_Ins	INS	ENST00000300231.5	37	c.2044_2045insA	CCDS42031.1																																																																																				0.515	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		7	26	NA	NA	NA	NA	7	26	---	---	---	---
IQGAP1	8826	broad.mit.edu	37	15	90934059	90934060	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr15:90934059_90934060insA	ENST00000268182.5	+	2	233_234	c.109_110insA	c.(109-111)cagfs	p.Q37fs	IQGAP1_ENST00000560738.1_Intron|RP11-154B12.3_ENST00000560578.1_RNA	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	37					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAGGAGACGTCAGAACGTGGCT	0.426																																						uc002bpl.1		NA																	0				ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8						c.(109-111)CAGfs		IQ motif containing GTPase activating protein 1																																				SO:0001589	frameshift_variant	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:90934059_90934060insA	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.110dupA	15.37:g.90934060_90934060dupA	ENSP00000268182:p.Gln37fs						p.Q37fs	NM_003870	NP_003861	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		2	210_211	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		37					A7MBM3	Frame_Shift_Ins	INS	ENST00000268182.5	37	c.109_110insA	CCDS10362.1																																																																																				0.426	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		18	65	NA	NA	NA	NA	18	65	---	---	---	---
PLCG2	5336	broad.mit.edu	37	16	81957192	81957192	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr16:81957192delG	ENST00000359376.3	+	22	2624	c.2410delG	c.(2410-2412)gggfs	p.G805fs		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	805	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CAAGGAGCCCGGGGGCTGGTA	0.582																																						uc002fgt.2		NA																	0				large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						c.(2410-2412)GGGfs		phospholipase C, gamma 2							34.0	38.0	36.0					16																	81957192		1978	4156	6134	SO:0001589	frameshift_variant	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81957192delG		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.2410delG	16.37:g.81957192delG	ENSP00000352336:p.Gly805fs						p.G804fs	NM_002661	NP_002652	P16885	PLCG2_HUMAN			22	2562	+			804			SH3.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Frame_Shift_Del	DEL	ENST00000359376.3	37	c.2410delG	CCDS42204.1																																																																																				0.582	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			14	30	NA	NA	NA	NA	14	30	---	---	---	---
HEXIM1	10614	broad.mit.edu	37	17	43226740	43226743	+	Frame_Shift_Del	DEL	GGAG	GGAG	-	rs539194359		TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr17:43226740_43226743delGGAG	ENST00000332499.2	+	1	2057_2060	c.183_186delGGAG	c.(181-186)ccggagfs	p.PE61fs	AC002117.1_ENST00000589950.1_RNA|AC002117.1_ENST00000452741.1_RNA	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	61					heart development (GO:0007507)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GTCCGGGGCCGGAGGGGGAAGGGA	0.676											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002iig.2		NA																	0				ovary(1)	1						c.(181-186)CCGGAGfs		hexamethylene bis-acetamide inducible 1																																				SO:0001589	frameshift_variant	10614				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding	g.chr17:43226740_43226743delGGAG	AB021179	CCDS11495.1	17q21.31	2006-03-28				ENSG00000186834			24953	protein-coding gene	gene with protein product		607328				12119119, 12832472	Standard	NM_006460		Approved	CLP-1, HIS1, MAQ1, EDG1	uc002iig.3	O94992		ENST00000332499.2:c.183_186delGGAG	17.37:g.43226740_43226743delGGAG	ENSP00000328773:p.Pro61fs		OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	914		p.P61fs	NM_006460	NP_006451	O94992	HEXI1_HUMAN			1	2057_2060	+			61_62					B2R8Y5	Frame_Shift_Del	DEL	ENST00000332499.2	37	c.183_186delGGAG	CCDS11495.1																																																																																				0.676	HEXIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449821.2	NM_006460		9	49	NA	NA	NA	NA	9	49	---	---	---	---
ZNF320	162967	broad.mit.edu	37	19	53384531	53384539	+	In_Frame_Del	DEL	GCGAAGGTC	GCGAAGGTC	-			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr19:53384531_53384539delGCGAAGGTC	ENST00000595635.1	-	8	1341_1349	c.840_848delGACCTTCGC	c.(838-849)aagaccttcgct>aat	p.280_283KTFA>N	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000391781.2_In_Frame_Del_p.280_283KTFA>N	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	280					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TGAATTTCGAGCGAAGGTCTTGCCACACT	0.416																																						uc002qag.2		NA																	0					0						c.(838-849)AAGACCTTCGCT>AAT		zinc finger protein 320																																				SO:0001651	inframe_deletion	162967				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53384531_53384539delGCGAAGGTC	AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.840_848delGACCTTCGC	19.37:g.53384531_53384539delGCGAAGGTC	ENSP00000473091:p.Lys280_Ala283delinsAsn					ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_In_Frame_Del_p.226_229KTFA>N|ZNF320_uc002qai.2_In_Frame_Del_p.280_283KTFA>N	p.280_283KTFA>N	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN		GBM - Glioblastoma multiforme(134;0.0534)	4	1031_1039	-			280_283			C2H2-type 5.		Q8NDR6	In_Frame_Del	DEL	ENST00000595635.1	37	c.840_848delGACCTTCGC	CCDS33095.1																																																																																				0.416	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1	NM_207333		17	89	NA	NA	NA	NA	17	89	---	---	---	---
SCRN3	79634	broad.mit.edu	37	2	175292478	175292479	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr2:175292478_175292479delTG	ENST00000272732.6	+	8	1212_1213	c.1130_1131delTG	c.(1129-1131)ctgfs	p.L377fs	SCRN3_ENST00000409673.3_Frame_Shift_Del_p.L370fs|SCRN3_ENST00000548921.1_3'UTR	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	377							dipeptidase activity (GO:0016805)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			ATGAGGAAACTGGAGAAAGAAC	0.297																																						uc002uiq.2		NA																	0				ovary(1)	1						c.(1129-1131)CTGfs		secernin 3																																				SO:0001589	frameshift_variant	79634				proteolysis		dipeptidase activity	g.chr2:175292478_175292479delTG	AF279776	CCDS2258.1, CCDS54420.1	2q31	2008-02-05			ENSG00000144306	ENSG00000144306			30382	protein-coding gene	gene with protein product		614967				12221138	Standard	NM_024583		Approved	FLJ23142	uc002uiq.3	Q0VDG4	OTTHUMG00000132332	ENST00000272732.6:c.1130_1131delTG	2.37:g.175292478_175292479delTG	ENSP00000272732:p.Leu377fs					SCRN3_uc010zen.1_Frame_Shift_Del_p.L370fs|SCRN3_uc010zeo.1_Frame_Shift_Del_p.L175fs|SCRN3_uc002uis.2_Frame_Shift_Del_p.L119fs	p.L377fs	NM_024583	NP_078859	Q0VDG4	SCRN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.229)		8	1218_1219	+			377					B4DI11|C9JPC1|D3DPE0|Q7L1C5|Q9H5R5	Frame_Shift_Del	DEL	ENST00000272732.6	37	c.1130_1131delTG	CCDS2258.1																																																																																				0.297	SCRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255451.2	NM_024583		11	111	NA	NA	NA	NA	11	111	---	---	---	---
SRRD	402055	broad.mit.edu	37	22	26886165	26886168	+	Splice_Site	DEL	GTAA	GTAA	-	rs368040628		TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr22:26886165_26886168delGTAA	ENST00000215917.7	+	5	778		c.e5+1			NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN	SRR1 domain containing						rhythmic process (GO:0048511)					endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						TTGAGGAGAGGTAAGTCTGAGAAT	0.461																																						uc010gve.2		NA																	0					0						c.e5+1		SRR1 domain containing																																				SO:0001630	splice_region_variant	402055				rhythmic process			g.chr22:26886165_26886168delGTAA	BC066962	CCDS42995.1	22q12.1	2008-10-31			ENSG00000100104	ENSG00000100104			33910	protein-coding gene	gene with protein product	"""hepatocellular carcinoma complicating hemochromatosis"""	602254					Standard	NM_001013694		Approved	HC/HCC, SRR1L	uc010gve.3	Q9UH36	OTTHUMG00000150885	ENST00000215917.7:c.764+1GTAA>-	22.37:g.26886165_26886168delGTAA						SRRD_uc003acp.3_Splice_Site_p.R248_splice|uc003acu.1_5'Flank	p.R255_splice	NM_001013694	NP_001013716	Q9UH36	SRR1L_HUMAN			5	771	+								Q6NXP8	Splice_Site	DEL	ENST00000215917.7	37	c.764_splice	CCDS42995.1																																																																																				0.461	SRRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320423.2	NM_001013694	Intron	7	37	NA	NA	NA	NA	7	37	---	---	---	---
CRIPAK	285464	broad.mit.edu	37	4	1388441	1388442	+	Frame_Shift_Ins	INS	-	-	CG	rs144787346		TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr4:1388441_1388442insCG	ENST00000324803.4	+	1	3102_3103	c.142_143insCG	c.(142-144)atgfs	p.M48fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	48					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CTGCTCACACATGCCCATGTGG	0.644																																						uc003gdf.2		NA																	0					0						c.(142-144)ATGfs		cysteine-rich PAK1 inhibitor																																				SO:0001589	frameshift_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1388441_1388442insCG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	Exception_encountered	4.37:g.1388441_1388442insCG	ENSP00000323978:p.Met48fs						p.M48fs	NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3102_3103	+			48			1		Q8NB03	Frame_Shift_Ins	INS	ENST00000324803.4	37	c.142_143insCG	CCDS3349.1																																																																																				0.644	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		7	634	NA	NA	NA	NA	7	634	---	---	---	---
CC2D2A	57545	broad.mit.edu	37	4	15589466	15589468	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr4:15589466_15589468delGAA	ENST00000503292.1	+	33	4273_4275	c.4093_4095delGAA	c.(4093-4095)gaadel	p.E1367del	CC2D2A_ENST00000424120.1_In_Frame_Del_p.E1367del|CC2D2A_ENST00000389652.5_In_Frame_Del_p.E1259del|CC2D2A_ENST00000413206.1_In_Frame_Del_p.E1367del	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1367					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GGCAGGGGATGAAGAAGAACATG	0.399																																						uc010idv.2		NA																	0				pancreas(2)|ovary(1)	3						c.(4093-4095)GAAdel		coiled-coil and C2 domain containing 2A isoform																																				SO:0001651	inframe_deletion	57545				cell projection organization	cilium|microtubule basal body		g.chr4:15589466_15589468delGAA	AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.4093_4095delGAA	4.37:g.15589472_15589474delGAA	ENSP00000421809:p.Glu1367del					CC2D2A_uc003gnx.2_In_Frame_Del_p.E1259del|CC2D2A_uc003gnz.1_RNA|CC2D2A_uc003goa.1_RNA	p.E1367del	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN			33	4338_4340	+			1367					A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	In_Frame_Del	DEL	ENST00000503292.1	37	c.4093_4095delGAA	CCDS47026.1																																																																																				0.399	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522		14	49	NA	NA	NA	NA	14	49	---	---	---	---
INTS12	57117	broad.mit.edu	37	4	106604428	106604428	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr4:106604428delG	ENST00000451321.2	-	7	1330	c.851delC	c.(850-852)tcgfs	p.S285fs	INTS12_ENST00000394735.1_Frame_Shift_Del_p.S285fs|INTS12_ENST00000340139.5_Frame_Shift_Del_p.S285fs	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	285	Ser-rich.				snRNA processing (GO:0016180)	integrator complex (GO:0032039)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		AGTTACTGACGAGGAAACGCT	0.378																																						uc003hxw.2		NA																	0					0						c.(850-852)TCGfs		integrator complex subunit 12							40.0	42.0	42.0					4																	106604428		2202	4299	6501	SO:0001589	frameshift_variant	57117				snRNA processing	integrator complex	protein binding|zinc ion binding	g.chr4:106604428delG		CCDS3671.1	4q24	2013-01-28	2006-03-15	2006-03-15	ENSG00000138785	ENSG00000138785		"""Zinc fingers, PHD-type"""	25067	protein-coding gene	gene with protein product	"""hypothetical nuclear factor SBBI22"""	611355	"""PHD finger protein 22"""	PHF22		16239144	Standard	NM_020395		Approved	SBBI22, INT12	uc010ilr.3	Q96CB8	OTTHUMG00000131215	ENST00000451321.2:c.851delC	4.37:g.106604428delG	ENSP00000415433:p.Ser285fs					INTS12_uc010ilr.2_Frame_Shift_Del_p.S284fs	p.S284fs	NM_020395	NP_065128	Q96CB8	INT12_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)	8	1109	-			284			Ser-rich.		B2RC48|Q3B6Z3|Q9HD71	Frame_Shift_Del	DEL	ENST00000451321.2	37	c.851delC	CCDS3671.1																																																																																				0.378	INTS12-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318624.1	NM_020395		8	30	NA	NA	NA	NA	8	30	---	---	---	---
STC1	6781	broad.mit.edu	37	8	23702493	23702493	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-6872-01A-11D-1870-08	TCGA-BA-6872-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	182b2a39-4881-402a-a907-b51aa114584a	1f4ec99a-77d9-437c-b7d0-d67a65109078	g.chr8:23702493delG	ENST00000290271.2	-	4	817	c.534delC	c.(532-534)atcfs	p.I178fs	STC1_ENST00000524323.1_Frame_Shift_Del_p.I109fs	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	178					bone development (GO:0060348)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cAMP (GO:0071320)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hypoxia (GO:0071456)|chondrocyte proliferation (GO:0035988)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endothelial cell morphogenesis (GO:0001886)|growth plate cartilage axis specification (GO:0003421)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of renal phosphate excretion (GO:1903403)|ossification (GO:0001503)|positive regulation of calcium ion import (GO:0090280)|regulation of anion transport (GO:0044070)|regulation of cardiac muscle cell contraction (GO:0086004)|response to vitamin D (GO:0033280)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GGCTGTCTCTGATTGTGCTGA	0.502																																						uc003xdw.1		NA																	0				skin(3)|upper_aerodigestive_tract(1)	4						c.(532-534)ATCfs		stanniocalcin 1 precursor							178.0	159.0	165.0					8																	23702493		2203	4300	6503	SO:0001589	frameshift_variant	6781				cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity	g.chr8:23702493delG		CCDS6043.1	8p22-p12	2008-06-23			ENSG00000159167	ENSG00000159167			11373	protein-coding gene	gene with protein product		601185		STC		9480753	Standard	NM_003155		Approved		uc003xdw.1	P52823	OTTHUMG00000097853	ENST00000290271.2:c.534delC	8.37:g.23702493delG	ENSP00000290271:p.Ile178fs						p.I178fs	NM_003155	NP_003146	P52823	STC1_HUMAN		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	4	818	-		Prostate(55;0.055)|Breast(100;0.116)	178					B4DN22|Q71UE5	Frame_Shift_Del	DEL	ENST00000290271.2	37	c.534delC	CCDS6043.1																																																																																				0.502	STC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215143.1			50	41	NA	NA	NA	NA	50	41	---	---	---	---
