#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
CRCT1	54544	broad.mit.edu	37	1	152487926	152487926	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr1:152487926C>T	ENST00000368790.3	+	2	140	c.67C>T	c.(67-69)Ccg>Tcg	p.P23S		NM_019060.2	NP_061933.1	Q9UGL9	CRCT1_HUMAN	cysteine-rich C-terminal 1	23										lung(1)|ovary(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGccccgctccgtgtcccgc	0.706																																						uc001ezz.2		NA																	0					0						c.(67-69)CCG>TCG		cysteine-rich C-terminal 1							10.0	12.0	11.0					1																	152487926		2195	4278	6473	SO:0001583	missense	54544							g.chr1:152487926C>T	AJ243662	CCDS1012.1	1q21	2008-02-05	2006-12-18	2006-12-18	ENSG00000169509	ENSG00000169509			29875	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 42"""	C1orf42		11230159	Standard	NM_019060		Approved	NICE-1	uc001ezz.3	Q9UGL9	OTTHUMG00000012391	ENST00000368790.3:c.67C>T	1.37:g.152487926C>T	ENSP00000357779:p.Pro23Ser						p.P23S	NM_019060	NP_061933	Q9UGL9	CRCT1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	140	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		23					A4QN00|Q6IAD7	Missense_Mutation	SNP	ENST00000368790.3	37	c.67C>T	CCDS1012.1	.	.	.	.	.	.	.	.	.	.	C	7.659	0.684580	0.14973	.	.	ENSG00000169509	ENST00000368790	T	0.78924	-1.22	4.15	2.06	0.26882	.	0.180281	0.27327	N	0.019869	T	0.51227	0.1662	.	.	.	0.09310	N	1	P	0.40180	0.705	B	0.38327	0.271	T	0.47548	-0.9109	9	0.87932	D	0	-19.3799	6.4707	0.22007	0.2101:0.5864:0.2036:0.0	.	23	Q9UGL9	CRCT1_HUMAN	S	23	ENSP00000357779:P23S	ENSP00000357779:P23S	P	+	1	0	CRCT1	150754550	0.888000	0.30383	0.039000	0.18376	0.560000	0.35617	1.830000	0.39131	1.040000	0.40099	-0.176000	0.13171	CCG		0.706	CRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034511.1	NM_019060		19	13	0	0	0	0	19	13				
KCNT2	343450	broad.mit.edu	37	1	196227545	196227545	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr1:196227545C>T	ENST00000294725.9	-	26	3905	c.2990G>A	c.(2989-2991)cGc>cAc	p.R997H	KCNT2_ENST00000609185.1_Missense_Mutation_p.R930H|KCNT2_ENST00000367433.5_Missense_Mutation_p.R973H|KCNT2_ENST00000367431.4_Missense_Mutation_p.R931H|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	997					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TGTTGAGTTGCGGTGGTTGCT	0.483																																						uc001gtd.1		NA																	0				ovary(5)|breast(1)|skin(1)	7						c.(2989-2991)CGC>CAC		potassium channel, subfamily T, member 2							197.0	163.0	174.0					1																	196227545		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196227545C>T	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2990G>A	1.37:g.196227545C>T	ENSP00000294725:p.Arg997His					KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.R930H|KCNT2_uc001gtf.1_Missense_Mutation_p.R973H|KCNT2_uc001gtg.1_RNA|KCNT2_uc001gth.1_Missense_Mutation_p.R501H	p.R997H	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			26	3050	-			997			Cytoplasmic (Potential).		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.2990G>A	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.652201	0.47362	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.22743	2.03;1.94;2.28	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000011	T	0.45796	0.1360	M	0.77616	2.38	0.80722	D	1	D;B;B;B	0.65815	0.995;0.023;0.021;0.007	P;B;B;B	0.56960	0.81;0.006;0.008;0.003	T	0.40646	-0.9552	10	0.59425	D	0.04	-11.3629	19.9118	0.97027	0.0:1.0:0.0:0.0	.	962;973;930;997	Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	H	973;931;997	ENSP00000356403:R973H;ENSP00000356401:R931H;ENSP00000294725:R997H	ENSP00000294725:R997H	R	-	2	0	KCNT2	194494168	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	7.140000	0.77322	2.710000	0.92621	0.643000	0.83706	CGC		0.483	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		74	100	0	0	0	0	74	100				
ARMC3	219681	broad.mit.edu	37	10	23270411	23270411	+	Missense_Mutation	SNP	C	C	G	rs146538646		TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr10:23270411C>G	ENST00000298032.5	+	9	1143	c.1059C>G	c.(1057-1059)ttC>ttG	p.F353L	ARMC3_ENST00000409049.3_Missense_Mutation_p.F353L|ARMC3_ENST00000409983.3_Missense_Mutation_p.F353L|ARMC3_ENST00000376528.4_Missense_Mutation_p.F90L	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	353						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AAGATTTTTTCAATAATCAGG	0.363																																						uc001irm.3		NA																	0					0						c.(1057-1059)TTC>TTG		armadillo repeat containing 3																																				SO:0001583	missense	219681						binding	g.chr10:23270411C>G	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1059C>G	10.37:g.23270411C>G	ENSP00000298032:p.Phe353Leu					ARMC3_uc010qcv.1_Missense_Mutation_p.F353L|ARMC3_uc010qcw.1_Missense_Mutation_p.F90L	p.F353L	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN			9	1142	+			353			ARM 9.		A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	c.1059C>G	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.870774	0.51695	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000376528	T;T;T;T	0.61742	0.08;0.08;1.49;1.01	5.05	5.05	0.67936	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.46502	0.1396	L	0.42245	1.32	0.58432	D	0.999996	B;P	0.34977	0.184;0.478	B;B	0.33254	0.16;0.129	T	0.43097	-0.9412	10	0.33940	T	0.23	-25.4605	10.1066	0.42537	0.0:0.8758:0.0:0.1242	.	353;353	Q5W041-4;Q5W041	.;ARMC3_HUMAN	L	353;353;289;353;90	ENSP00000298032:F353L;ENSP00000386943:F353L;ENSP00000387288:F353L;ENSP00000365711:F90L	ENSP00000298032:F353L	F	+	3	2	ARMC3	23310417	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	2.547000	0.45786	2.503000	0.84419	0.561000	0.74099	TTC		0.363	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		57	62	0	0	0	0	57	62				
AP2A2	161	broad.mit.edu	37	11	994108	994108	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr11:994108C>T	ENST00000448903.2	+	14	1960	c.1819C>T	c.(1819-1821)Cgg>Tgg	p.R607W	AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000332231.5_Missense_Mutation_p.R608W	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	607					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		ATTCCCGGAGCGGGAGTCCTC	0.622																																						uc001lss.2		NA																	0					0						c.(1819-1821)CGG>TGG		adaptor-related protein complex 2, alpha 2							57.0	68.0	64.0					11																	994108		1961	4130	6091	SO:0001583	missense	161				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity	g.chr11:994108C>T	AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"""alpha-adaptin C; Huntingtin interacting protein J"", ""adaptin, alpha B"", ""clathrin-associated/assembly/adaptor protein, large, alpha 2"""	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.1819C>T	11.37:g.994108C>T	ENSP00000413234:p.Arg607Trp					AP2A2_uc001lst.1_Missense_Mutation_p.R608W|AP2A2_uc009yco.1_RNA	p.R607W	NM_012305	NP_036437	O94973	AP2A2_HUMAN		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)	14	2000	+		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	607					O75403|Q53ET1|Q96SI8	Missense_Mutation	SNP	ENST00000448903.2	37	c.1819C>T	CCDS44512.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.038776	0.35989	.	.	ENSG00000183020	ENST00000448903;ENST00000332231;ENST00000448757;ENST00000529125;ENST00000452310	T;T	0.20881	2.04;2.04	3.16	3.16	0.36331	Armadillo-like helical (1);	0.119241	0.53938	D	0.000060	T	0.21550	0.0519	M	0.74647	2.275	0.80722	D	1	B;B	0.32283	0.027;0.362	B;B	0.17979	0.002;0.02	T	0.17228	-1.0376	10	0.87932	D	0	-48.5231	10.5502	0.45083	0.2447:0.7553:0.0:0.0	.	608;607	O94973-2;O94973	.;AP2A2_HUMAN	W	607;608;608;344;347	ENSP00000413234:R607W;ENSP00000327694:R608W	ENSP00000327694:R608W	R	+	1	2	AP2A2	984108	1.000000	0.71417	0.977000	0.42913	0.936000	0.57629	1.746000	0.38288	2.080000	0.62538	0.561000	0.74099	CGG		0.622	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	NM_012305		68	111	0	0	0	0	68	111				
MUC5B	727897	broad.mit.edu	37	11	1263410	1263410	+	Missense_Mutation	SNP	C	C	T	rs377489931	byFrequency	TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr11:1263410C>T	ENST00000529681.1	+	31	5358	c.5300C>T	c.(5299-5301)aCg>aTg	p.T1767M	MUC5B_ENST00000447027.1_Missense_Mutation_p.T1770M|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1767	7 X Cys-rich subdomain repeats.|Thr-rich.				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)		AGGACAGAGACGACAATGAGC	0.617													c|||	5	0.000998403	0.0	0.0	5008	,	,		17427	0.0		0.0	False		,,,				2504	0.0051					uc009ycr.1		NA																	0					0						c.(7378-7380)ACG>ATG		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;			MET/THR	1,4369		0,1,2184	43.0	51.0	48.0		5300	2.2	0.0	11		48	0,8522		0,0,4261	no	missense	MUC5B	NM_002458.2	81	0,1,6445	TT,TC,CC		0.0,0.0229,0.0078	probably-damaging	1767/5763	1263410	1,12891	2185	4261	6446	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1263410C>T	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.5300C>T	11.37:g.1263410C>T	ENSP00000436812:p.Thr1767Met					MUC5B_uc001ltb.2_Missense_Mutation_p.T1770M	p.T2460M	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)	47	7505	+		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)	1767			7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.7379C>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	9.775	1.173833	0.21704	2.29E-4	0.0	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.25579	1.79;1.96	3.11	2.15	0.27550	.	.	.	.	.	T	0.27313	0.0670	N	0.14661	0.345	0.09310	N	1	D;D	0.89917	1.0;1.0	P;P	0.60415	0.874;0.848	T	0.13575	-1.0504	9	0.87932	D	0	.	9.1564	0.36996	0.0:0.7749:0.225:0.0	.	2460;1770	A7Y9J9;E9PBJ0	.;.	M	1767;1770;1768;1837	ENSP00000436812:T1767M;ENSP00000415793:T1770M	ENSP00000343037:T1768M	T	+	2	0	MUC5B	1219986	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	-0.559000	0.05971	0.384000	0.24942	0.306000	0.20318	ACG		0.617	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		31	41	0	0	0	0	31	41				
TMEM86A	144110	broad.mit.edu	37	11	18723189	18723189	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr11:18723189G>T	ENST00000280734.2	+	3	452	c.356G>T	c.(355-357)cGg>cTg	p.R119L	TMEM86A_ENST00000527002.1_3'UTR	NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	119						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						CTGGCTCTTCGGACAGGTCTG	0.612																																						uc001moz.1		NA																	0				ovary(1)	1						c.(355-357)CGG>CTG		transmembrane protein 86A							97.0	87.0	90.0					11																	18723189		2199	4293	6492	SO:0001583	missense	144110					integral to membrane		g.chr11:18723189G>T	BC035692	CCDS7844.1	11p15.1	2005-10-28				ENSG00000151117			26890	protein-coding gene	gene with protein product							Standard	NM_153347		Approved	FLJ90119	uc001moz.1	Q8N2M4		ENST00000280734.2:c.356G>T	11.37:g.18723189G>T	ENSP00000280734:p.Arg119Leu						p.R119L	NM_153347	NP_699178	Q8N2M4	TM86A_HUMAN			3	439	+			119					Q96AJ0	Missense_Mutation	SNP	ENST00000280734.2	37	c.356G>T	CCDS7844.1	.	.	.	.	.	.	.	.	.	.	G	7.449	0.642378	0.14451	.	.	ENSG00000151117	ENST00000535380;ENST00000280734	T	0.18960	2.18	5.03	5.03	0.67393	.	0.420322	0.24134	N	0.041226	T	0.14313	0.0346	L	0.35854	1.095	0.36815	D	0.886083	B	0.18013	0.025	B	0.14023	0.01	T	0.09465	-1.0673	10	0.09084	T	0.74	-18.2471	9.8566	0.41090	0.1224:0.0:0.8776:0.0	.	119	Q8N2M4	TM86A_HUMAN	L	119	ENSP00000280734:R119L	ENSP00000280734:R119L	R	+	2	0	TMEM86A	18679765	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.038000	0.49783	2.771000	0.95319	0.561000	0.74099	CGG		0.612	TMEM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387812.1	NM_153347		58	73	1	0	2.57e-57	2.94e-57	58	73				
DAGLA	747	broad.mit.edu	37	11	61488167	61488167	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr11:61488167G>A	ENST00000257215.5	+	3	228	c.112G>A	c.(112-114)Gtg>Atg	p.V38M		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	38					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GATCCTGTCCGTGGTGCTCTT	0.637																																						uc001nsa.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(112-114)GTG>ATG		neural stem cell-derived dendrite regulator							84.0	77.0	80.0					11																	61488167		2202	4299	6501	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61488167G>A	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.112G>A	11.37:g.61488167G>A	ENSP00000257215:p.Val38Met						p.V38M	NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	3	223	+			38			Helical; (Potential).		A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.112G>A	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446832	0.84101	.	.	ENSG00000134780	ENST00000257215	T	0.29397	1.57	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.54822	0.1882	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.61163	-0.7118	10	0.87932	D	0	-26.7494	17.4538	0.87600	0.0:0.0:1.0:0.0	.	38	Q9Y4D2	DGLA_HUMAN	M	38	ENSP00000257215:V38M	ENSP00000257215:V38M	V	+	1	0	DAGLA	61244743	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	9.131000	0.94446	2.175000	0.68902	0.561000	0.74099	GTG		0.637	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		48	60	0	0	0	0	48	60				
CATSPER1	117144	broad.mit.edu	37	11	65793355	65793355	+	Missense_Mutation	SNP	C	C	T	rs543744984		TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr11:65793355C>T	ENST00000312106.5	-	1	633	c.496G>A	c.(496-498)Gtg>Atg	p.V166M		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	166	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)	p.V166M(2)		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						TGGTGGGGCACGCCAGAGGAA	0.582																																						uc001ogt.2		NA																	2	Substitution - Missense(2)	p.V166M(1)	ovary(1)|endometrium(1)	ovary(2)	2						c.(496-498)GTG>ATG		sperm-associated cation channel 1							57.0	53.0	54.0					11																	65793355		2201	4296	6497	SO:0001583	missense	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65793355C>T	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.496G>A	11.37:g.65793355C>T	ENSP00000309052:p.Val166Met						p.V166M	NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN			1	634	-			166			His-rich.|Cytoplasmic (Potential).		Q96P76	Missense_Mutation	SNP	ENST00000312106.5	37	c.496G>A	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	C	4.959	0.178073	0.09443	.	.	ENSG00000175294	ENST00000312106	D	0.96940	-4.18	3.43	1.5	0.22942	.	.	.	.	.	D	0.84556	0.5498	N	0.03115	-0.41	0.09310	N	1	D	0.56287	0.975	B	0.32090	0.14	T	0.79339	-0.1844	9	0.22706	T	0.39	2.3962	8.0048	0.30319	0.0:0.7774:0.0:0.2226	.	166	Q8NEC5	CTSR1_HUMAN	M	166	ENSP00000309052:V166M	ENSP00000309052:V166M	V	-	1	0	CATSPER1	65549931	0.996000	0.38824	0.000000	0.03702	0.049000	0.14656	0.009000	0.13219	0.228000	0.21019	-0.657000	0.03884	GTG		0.582	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		71	75	0	0	0	0	71	75				
PKNOX2	63876	broad.mit.edu	37	11	125301145	125301145	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr11:125301145G>A	ENST00000298282.9	+	13	1547	c.1276G>A	c.(1276-1278)Gat>Aat	p.D426N	PKNOX2_ENST00000542175.1_Missense_Mutation_p.D362N|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	426	Asp/Glu-rich (acidic).				regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		GGCTGCACACGATGACTCATT	0.552																																						uc001qbu.2		NA																	0				ovary(3)	3						c.(1276-1278)GAT>AAT		PBX/knotted 1 homeobox 2							52.0	54.0	53.0					11																	125301145		2166	4271	6437	SO:0001583	missense	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125301145G>A	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.1276G>A	11.37:g.125301145G>A	ENSP00000298282:p.Asp426Asn					PKNOX2_uc010saz.1_Missense_Mutation_p.D397N|PKNOX2_uc010sba.1_Missense_Mutation_p.D397N|PKNOX2_uc010sbb.1_Missense_Mutation_p.D362N|PKNOX2_uc001qbv.2_Missense_Mutation_p.D191N	p.D426N	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	13	1590	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	426			Asp/Glu-rich (acidic).		B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Missense_Mutation	SNP	ENST00000298282.9	37	c.1276G>A	CCDS41730.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824122	0.71143	.	.	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000542175	D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.88	4.56	4.56	0.56223	.	0.182060	0.45126	D	0.000391	T	0.74199	0.3685	N	0.22421	0.69	0.54753	D	0.999989	P;P;P	0.47106	0.89;0.836;0.825	B;B;B	0.34652	0.187;0.185;0.091	T	0.76694	-0.2865	10	0.33940	T	0.23	-8.2133	17.8767	0.88827	0.0:0.0:1.0:0.0	.	362;397;426	F5GZ15;B7Z3G7;Q96KN3	.;.;PKNX2_HUMAN	N	397;397;426;362	ENSP00000434732:D397N;ENSP00000433971:D397N;ENSP00000298282:D426N;ENSP00000441470:D362N	ENSP00000298282:D426N	D	+	1	0	PKNOX2	124806355	1.000000	0.71417	0.956000	0.39512	0.956000	0.61745	5.540000	0.67205	2.517000	0.84864	0.655000	0.94253	GAT		0.552	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			18	29	0	0	0	0	18	29				
MAP3K12	7786	broad.mit.edu	37	12	53877172	53877172	+	Missense_Mutation	SNP	T	T	C	rs140537763		TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr12:53877172T>C	ENST00000267079.2	-	11	1700	c.1475A>G	c.(1474-1476)aAg>aGg	p.K492R	MAP3K12_ENST00000547035.1_Missense_Mutation_p.K525R|MAP3K12_ENST00000547488.1_Missense_Mutation_p.K525R	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	492					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CACATTCCTCTTCTTGATAAG	0.532																																						uc001sdm.1		NA																	0				lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(1474-1476)AAG>AGG		mitogen-activated protein kinase kinase kinase		T	ARG/LYS,ARG/LYS	1,4405	2.1+/-5.4	0,1,2202	169.0	165.0	166.0		1574,1475	5.4	1.0	12	dbSNP_134	166	8,8592	6.4+/-24.3	0,8,4292	yes	missense,missense	MAP3K12	NM_001193511.1,NM_006301.3	26,26	0,9,6494	CC,CT,TT		0.093,0.0227,0.0692	benign,benign	525/893,492/860	53877172	9,12997	2203	4300	6503	SO:0001583	missense	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53877172T>C	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.1475A>G	12.37:g.53877172T>C	ENSP00000267079:p.Lys492Arg					MAP3K12_uc001sdn.1_Missense_Mutation_p.K525R	p.K492R	NM_006301	NP_006292	Q12852	M3K12_HUMAN			11	1573	-			492					B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	c.1475A>G	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	T	14.57	2.575410	0.45902	2.27E-4	9.3E-4	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	T;T;T	0.12672	2.66;2.66;2.66	5.42	5.42	0.78866	.	0.000000	0.47852	D	0.000205	T	0.11965	0.0291	L	0.33189	0.99	0.58432	D	0.999995	B;B	0.29862	0.259;0.169	B;B	0.33568	0.166;0.08	T	0.08391	-1.0724	10	0.09084	T	0.74	.	14.7585	0.69588	0.0:0.0:0.0:1.0	.	525;492	G3V1Y2;Q12852	.;M3K12_HUMAN	R	492;525;525	ENSP00000267079:K492R;ENSP00000449038:K525R;ENSP00000448689:K525R	ENSP00000267079:K492R	K	-	2	0	MAP3K12	52163439	0.988000	0.35896	1.000000	0.80357	0.998000	0.95712	2.040000	0.41203	2.196000	0.70406	0.533000	0.62120	AAG		0.532	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		127	162	0	0	0	0	127	162				
ACTN1	87	broad.mit.edu	37	14	69349260	69349260	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr14:69349260G>A	ENST00000193403.6	-	16	2251	c.1868C>T	c.(1867-1869)gCc>gTc	p.A623V	ACTN1_ENST00000376839.3_Missense_Mutation_p.A558V|ACTN1_ENST00000394419.4_Missense_Mutation_p.A623V|ACTN1_ENST00000438964.2_Missense_Mutation_p.A623V|ACTN1_ENST00000538545.2_Missense_Mutation_p.A623V	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	623	Interaction with DDN.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)	p.A623V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CTGCTGTCGGGCATGCTCCTC	0.612																																						uc001xkl.2		NA																	1	Substitution - Missense(1)		kidney(1)	central_nervous_system(1)	1						c.(1867-1869)GCC>GTC		actinin, alpha 1 isoform b							84.0	57.0	66.0					14																	69349260		2203	4300	6503	SO:0001583	missense	87				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding	g.chr14:69349260G>A	M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"""EF-hand domain containing"""	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.1868C>T	14.37:g.69349260G>A	ENSP00000193403:p.Ala623Val					ACTN1_uc001xkk.2_Missense_Mutation_p.A219V|ACTN1_uc010ttb.1_Missense_Mutation_p.A558V|ACTN1_uc001xkm.2_Missense_Mutation_p.A623V|ACTN1_uc001xkn.2_Missense_Mutation_p.A623V|ACTN1_uc010ttc.1_Missense_Mutation_p.A208V	p.A623V	NM_001102	NP_001093	P12814	ACTN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	16	2178	-			623			Interaction with DDN.		B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Missense_Mutation	SNP	ENST00000193403.6	37	c.1868C>T	CCDS9792.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.68|18.68	3.675668|3.675668	0.67928|0.67928	.|.	.|.	ENSG00000072110|ENSG00000072110	ENST00000193403;ENST00000394419;ENST00000438964;ENST00000376839;ENST00000538545|ENST00000555075	T;T;T;T;T|.	0.68181|.	-0.31;-0.31;-0.31;-0.31;-0.31|.	5.5|5.5	4.57|4.57	0.56435|0.56435	.|.	0.175028|.	0.49305|.	D|.	0.000151|.	T|T	0.68165|0.68165	0.2971|0.2971	L|L	0.49699|0.49699	1.58|1.58	0.80722|0.80722	D|D	1|1	B;B;B;B;B|.	0.19073|.	0.033;0.001;0.002;0.0;0.003|.	B;B;B;B;B|.	0.21917|.	0.037;0.003;0.001;0.002;0.002|.	T|T	0.64419|0.64419	-0.6412|-0.6412	10|5	0.46703|.	T|.	0.11|.	.|.	16.5388|16.5388	0.84380|0.84380	0.0:0.1299:0.8701:0.0|0.0:0.1299:0.8701:0.0	.|.	254;623;623;623;270|.	B7Z2W3;P12814-2;Q1HE25;P12814;B4DFY0|.	.;.;.;ACTN1_HUMAN;.|.	V|S	623;623;623;558;623|9	ENSP00000193403:A623V;ENSP00000377941:A623V;ENSP00000414272:A623V;ENSP00000366035:A558V;ENSP00000439828:A623V|.	ENSP00000193403:A623V|.	A|P	-|-	2|1	0|0	ACTN1|ACTN1	68419013|68419013	1.000000|1.000000	0.71417|0.71417	0.921000|0.921000	0.36526|0.36526	0.970000|0.970000	0.65996|0.65996	7.792000|7.792000	0.85828|0.85828	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GCC|CCC		0.612	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3	NM_001102		5	129	0	0	0	0	5	129				
TRAF3	7187	broad.mit.edu	37	14	103363706	103363706	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr14:103363706C>T	ENST00000560371.1	+	9	1145	c.928C>T	c.(928-930)Cga>Tga	p.R310*	TRAF3_ENST00000539721.1_Nonsense_Mutation_p.R227*|TRAF3_ENST00000347662.4_Nonsense_Mutation_p.R285*|TRAF3_ENST00000392745.2_Nonsense_Mutation_p.R310*|TRAF3_ENST00000351691.5_Nonsense_Mutation_p.R285*	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	310					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R310*(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		GGAAATGCTTCGAAATAATGA	0.378																																						uc001ymc.1		NA																	1	Substitution - Nonsense(1)		haematopoietic_and_lymphoid_tissue(1)	ovary(1)|lung(1)|breast(1)	3						c.(928-930)CGA>TGA		TNF receptor-associated factor 3 isoform 1							60.0	56.0	57.0					14																	103363706		2203	4300	6503	SO:0001587	stop_gained	7187				apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:103363706C>T	U21092	CCDS9975.1, CCDS9976.1, CCDS55946.1	14q32.32	2014-09-17				ENSG00000131323			12033	protein-coding gene	gene with protein product		601896				7530216, 7859281	Standard	NM_145725		Approved	CAP-1, CD40bp, CRAF1, LAP1	uc001ymd.2	Q13114		ENST00000560371.1:c.928C>T	14.37:g.103363706C>T	ENSP00000454207:p.Arg310*					TRAF3_uc001yme.1_Nonsense_Mutation_p.R285*|TRAF3_uc001ymd.1_Nonsense_Mutation_p.R310*|TRAF3_uc010txy.1_Nonsense_Mutation_p.R227*	p.R310*	NM_145725	NP_663777	Q13114	TRAF3_HUMAN		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)	10	1281	+		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)	310			Potential.		B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Nonsense_Mutation	SNP	ENST00000560371.1	37	c.928C>T	CCDS9975.1	.	.	.	.	.	.	.	.	.	.	C	38	6.716640	0.97784	.	.	ENSG00000131323	ENST00000392745;ENST00000347662;ENST00000351691;ENST00000539721	.	.	.	5.67	5.67	0.87782	.	0.249006	0.42172	D	0.000744	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-8.9547	15.7027	0.77555	0.1374:0.8626:0.0:0.0	.	.	.	.	X	310;285;310;227	.	ENSP00000328003:R285X	R	+	1	2	TRAF3	102433459	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.594000	0.54008	2.823000	0.97156	0.591000	0.81541	CGA		0.378	TRAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415735.1	NM_145725		27	7	0	0	0	0	27	7				
ZFYVE19	84936	broad.mit.edu	37	15	41102895	41102895	+	Silent	SNP	C	C	T			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr15:41102895C>T	ENST00000355341.4	+	6	1267	c.766C>T	c.(766-768)Ctg>Ttg	p.L256L	ZFYVE19_ENST00000570108.1_Silent_p.L233L|ZFYVE19_ENST00000336455.5_Silent_p.L246L|ZFYVE19_ENST00000564258.1_Silent_p.L81L|ZFYVE19_ENST00000299173.10_Silent_p.L256L	NM_001077268.1	NP_001070736.1	Q96K21	ANCHR_HUMAN	zinc finger, FYVE domain containing 19	256					abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis checkpoint (GO:0031565)|negative regulation of cytokinesis (GO:0032466)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|midbody (GO:0030496)	phosphatidylinositol-3-phosphate binding (GO:0032266)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GACACAGGATCTGCTAACGCA	0.592																																						uc001zmt.1		NA																	0					0						c.(766-768)CTG>TTG		zinc finger, FYVE domain containing 19							27.0	33.0	31.0					15																	41102895		2063	4196	6259	SO:0001819	synonymous_variant	84936						zinc ion binding	g.chr15:41102895C>T	AK027746	CCDS42025.1, CCDS58353.1, CCDS58354.1, CCDS58355.1	15q14	2008-05-02				ENSG00000166140		"""Zinc fingers, FYVE domain containing"""	20758	protein-coding gene	gene with protein product							Standard	NM_001077268		Approved	FLJ14840	uc031qrk.1	Q96K21		ENST00000355341.4:c.766C>T	15.37:g.41102895C>T						ZFYVE19_uc001zmu.1_Silent_p.L256L|ZFYVE19_uc001zmv.1_Silent_p.L81L|ZFYVE19_uc001zmw.1_Silent_p.L81L|ZFYVE19_uc001zmx.1_Silent_p.L81L|ZFYVE19_uc010bcc.1_Silent_p.L81L	p.L256L	NM_001077268	NP_001070736	Q96K21	ZFY19_HUMAN		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)	6	1280	+		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	256					B3KVB2|C9JNF4|H3BUF9|Q86WC2|Q8WU96	Silent	SNP	ENST00000355341.4	37	c.766C>T	CCDS42025.1																																																																																				0.592	ZFYVE19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418996.1	NM_032850		2	8	0	0	0	0	2	8				
ADAL	161823	broad.mit.edu	37	15	43641114	43641114	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr15:43641114C>T	ENST00000562188.1	+	8	659	c.643C>T	c.(643-645)Caa>Taa	p.Q215*	ADAL_ENST00000422466.2_Nonsense_Mutation_p.Q215*|ADAL_ENST00000389651.4_Nonsense_Mutation_p.Q215*|ADAL_ENST00000428046.3_Nonsense_Mutation_p.Q188*			Q6DHV7	ADAL_HUMAN	adenosine deaminase-like	215					adenosine catabolic process (GO:0006154)|drug metabolic process (GO:0017144)|inosine biosynthetic process (GO:0046103)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	adenosine deaminase activity (GO:0004000)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		GATTCCAAACCAAAAAAAAGA	0.453																																						uc010udo.1		NA																	0					0						c.(562-564)CAA>TAA		adenosine deaminase-like isoform 1							68.0	68.0	68.0					15																	43641114		2201	4299	6500	SO:0001587	stop_gained	161823				adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding	g.chr15:43641114C>T		CCDS32214.1, CCDS53936.1	15q15.3	2014-08-08			ENSG00000168803	ENSG00000168803			31853	protein-coding gene	gene with protein product							Standard	NM_001012969		Approved		uc010udo.2	Q6DHV7	OTTHUMG00000176646	ENST00000562188.1:c.643C>T	15.37:g.43641114C>T	ENSP00000456242:p.Gln215*					ADAL_uc001zrh.2_Nonsense_Mutation_p.Q215*|ADAL_uc001zri.1_Nonsense_Mutation_p.Q100*	p.Q188*	NM_001159280	NP_001152752	Q6DHV7	ADAL_HUMAN		GBM - Glioblastoma multiforme(94;9.31e-07)	10	1136	+		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)	215					A6NHZ3|B4DQM8	Nonsense_Mutation	SNP	ENST00000562188.1	37	c.562C>T		.	.	.	.	.	.	.	.	.	.	C	38	6.992311	0.97987	.	.	ENSG00000168803	ENST00000422466;ENST00000428046;ENST00000389651	.	.	.	4.39	3.44	0.39384	.	0.231912	0.46145	D	0.000316	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-0.3083	11.245	0.48991	0.1915:0.8085:0.0:0.0	.	.	.	.	X	215;188;215	.	ENSP00000374302:Q215X	Q	+	1	0	ADAL	41428406	1.000000	0.71417	0.551000	0.28230	0.686000	0.39977	2.615000	0.46368	1.137000	0.42214	0.655000	0.94253	CAA		0.453	ADAL-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432960.1	XM_091156		36	61	0	0	0	0	36	61				
ITGAL	3683	broad.mit.edu	37	16	30522385	30522385	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr16:30522385C>G	ENST00000356798.6	+	24	2894	c.2714C>G	c.(2713-2715)tCa>tGa	p.S905*	ITGAL_ENST00000358164.5_Nonsense_Mutation_p.S821*|ITGAL_ENST00000433423.2_Nonsense_Mutation_p.S139*	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	905					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	AATGAGGACTCAGACCTCCTG	0.567																																					NSCLC(110;1462 1641 3311 33990 49495)	uc002dyi.3		NA																	0				ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10						c.(2713-2715)TCA>TGA		integrin alpha L isoform a precursor	Efalizumab(DB00095)						190.0	165.0	173.0					16																	30522385		2197	4300	6497	SO:0001587	stop_gained	3683				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30522385C>G		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.2714C>G	16.37:g.30522385C>G	ENSP00000349252:p.Ser905*					ITGAL_uc002dyj.3_Nonsense_Mutation_p.S821*|ITGAL_uc010vev.1_Nonsense_Mutation_p.S139*	p.S905*	NM_002209	NP_002200	P20701	ITAL_HUMAN			24	2890	+			905			Extracellular (Potential).		O43746|Q45H73|Q96HB1|Q9UBC8	Nonsense_Mutation	SNP	ENST00000356798.6	37	c.2714C>G	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.642045	0.67244	.	.	ENSG00000005844	ENST00000356798;ENST00000358164;ENST00000433423	.	.	.	5.0	3.03	0.35002	.	0.803259	0.10586	N	0.657251	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	7.6691	0.28449	0.0:0.8031:0.0:0.1969	.	.	.	.	X	905;821;139	.	ENSP00000349252:S905X	S	+	2	0	ITGAL	30429886	0.001000	0.12720	0.002000	0.10522	0.799000	0.45148	0.925000	0.28791	0.524000	0.28502	0.555000	0.69702	TCA		0.567	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			53	72	0	0	0	0	53	72				
ITGAL	3683	broad.mit.edu	37	16	30525152	30525152	+	Silent	SNP	C	C	T			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr16:30525152C>T	ENST00000356798.6	+	25	3027	c.2847C>T	c.(2845-2847)gtC>gtT	p.V949V	ITGAL_ENST00000358164.5_Silent_p.V865V|ITGAL_ENST00000433423.2_Silent_p.V183V	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	949					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	TCCACCAAGTCAAGCACATGT	0.507																																					NSCLC(110;1462 1641 3311 33990 49495)	uc002dyi.3		NA																	0				ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10						c.(2845-2847)GTC>GTT		integrin alpha L isoform a precursor	Efalizumab(DB00095)						181.0	144.0	157.0					16																	30525152		2197	4300	6497	SO:0001819	synonymous_variant	3683				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30525152C>T		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.2847C>T	16.37:g.30525152C>T						ITGAL_uc002dyj.3_Silent_p.V865V|ITGAL_uc010vev.1_Silent_p.V183V	p.V949V	NM_002209	NP_002200	P20701	ITAL_HUMAN			25	3023	+			949			Extracellular (Potential).		O43746|Q45H73|Q96HB1|Q9UBC8	Silent	SNP	ENST00000356798.6	37	c.2847C>T	CCDS32433.1																																																																																				0.507	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			57	74	0	0	0	0	57	74				
EFCAB5	374786	broad.mit.edu	37	17	28417554	28417554	+	Missense_Mutation	SNP	G	G	A	rs562656184		TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr17:28417554G>A	ENST00000394835.3	+	20	3991	c.3799G>A	c.(3799-3801)Gat>Aat	p.D1267N	EFCAB5_ENST00000320856.5_Missense_Mutation_p.D1143N|RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000394832.2_Intron	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1267							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GGGAGTCCTCGATTTTAACAT	0.428													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19800	0.0		0.0	False		,,,				2504	0.0					uc002het.2		NA																	0				ovary(1)|skin(1)	2						c.(3799-3801)GAT>AAT		EF-hand calcium binding domain 5 isoform a							138.0	135.0	136.0					17																	28417554		1857	4089	5946	SO:0001583	missense	374786						calcium ion binding	g.chr17:28417554G>A	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.3799G>A	17.37:g.28417554G>A	ENSP00000378312:p.Asp1267Asn					EFCAB5_uc010cse.2_Missense_Mutation_p.D1022N|EFCAB5_uc010csf.2_Intron	p.D1267N	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN			20	3991	+			1267					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.3799G>A	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259980	0.80246	.	.	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000419434	T;T;T	0.40756	1.02;1.13;1.1	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000001	T	0.66645	0.2810	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.69978	-0.4998	10	0.87932	D	0	-16.2111	18.2723	0.90072	0.0:0.0:1.0:0.0	.	1143;1267	E7EVS9;A4FU69	.;EFCB5_HUMAN	N	1267;1143;949	ENSP00000378312:D1267N;ENSP00000322003:D1143N;ENSP00000417009:D949N	ENSP00000322003:D1143N	D	+	1	0	EFCAB5	25441680	1.000000	0.71417	0.834000	0.33040	0.569000	0.35902	7.154000	0.77437	2.535000	0.85469	0.655000	0.94253	GAT		0.428	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		90	109	0	0	0	0	90	109				
CCDC40	55036	broad.mit.edu	37	17	78013852	78013852	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr17:78013852C>T	ENST00000397545.4	+	3	362	c.335C>T	c.(334-336)aCg>aTg	p.T112M	CCDC40_ENST00000374877.3_Missense_Mutation_p.T112M|CCDC40_ENST00000374876.4_Missense_Mutation_p.T112M|CCDC40_ENST00000269318.5_Missense_Mutation_p.T112M	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	112					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCTGCAGATACGACTTACCCG	0.527																																						uc010dht.2		NA																	0				ovary(3)	3						c.(334-336)ACG>ATG		coiled-coil domain containing 40							80.0	84.0	83.0					17																	78013852		1948	4141	6089	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78013852C>T	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.335C>T	17.37:g.78013852C>T	ENSP00000380679:p.Thr112Met					CCDC40_uc010wub.1_Missense_Mutation_p.T112M	p.T112M	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		3	362	+	all_neural(118;0.167)		112					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.335C>T	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	C	3.915	-0.019386	0.07634	.	.	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000374876;ENST00000397545	T;T;T;T	0.49720	0.78;0.77;0.78;0.82	2.73	-3.83	0.04269	.	.	.	.	.	T	0.23806	0.0576	N	0.14661	0.345	0.09310	N	1	B;B	0.15473	0.013;0.003	B;B	0.08055	0.003;0.0	T	0.12863	-1.0531	9	0.32370	T	0.25	0.026	5.1934	0.15223	0.0:0.4902:0.1942:0.3156	.	112;112	Q4G0X9-5;Q4G0X9	.;CCD40_HUMAN	M	112	ENSP00000364011:T112M;ENSP00000269318:T112M;ENSP00000364010:T112M;ENSP00000380679:T112M	ENSP00000269318:T112M	T	+	2	0	CCDC40	75628447	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.560000	0.05964	-1.001000	0.03434	-1.197000	0.01672	ACG		0.527	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		89	115	0	0	0	0	89	115				
ASPSCR1	79058	broad.mit.edu	37	17	79966949	79966949	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr17:79966949G>T	ENST00000306739.4	+	8	1067	c.970G>T	c.(970-972)Gtg>Ttg	p.V324L	ASPSCR1_ENST00000306729.7_Missense_Mutation_p.V324L|ASPSCR1_ENST00000580534.1_Missense_Mutation_p.V247L	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	324	Interaction with GLUT4. {ECO:0000250}.				glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)			ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GGAGCCGGTGGTGTGCCACCC	0.721			T	TFE3	alveolar soft part sarcoma																																	uc002kcx.2		NA		Dom	yes		17	17q25	79058	T	"""alveolar soft part sarcoma chromosome region, candidate 1"""			M	TFE3		alveolar soft part sarcoma	ASPSCR1/TFE3(161)	0				soft_tissue(118)|kidney(43)|breast(1)	162						c.(970-972)GTG>TTG		alveolar soft part sarcoma chromosome region,							22.0	22.0	22.0					17																	79966949		2168	4281	6449	SO:0001583	missense	79058						protein binding	g.chr17:79966949G>T	AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"""UBX domain containing"""	13825	protein-coding gene	gene with protein product	"""UBX domain protein 9"""	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.970G>T	17.37:g.79966949G>T	ENSP00000302176:p.Val324Leu					ASPSCR1_uc002kcw.1_Missense_Mutation_p.V324L|ASPSCR1_uc002kcy.2_Missense_Mutation_p.V324L|ASPSCR1_uc002kcz.2_Missense_Mutation_p.V218L|ASPSCR1_uc002kda.2_Missense_Mutation_p.V247L|ASPSCR1_uc002kdb.1_Missense_Mutation_p.V247L	p.V324L	NM_024083	NP_076988	Q9BZE9	ASPC1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		8	1067	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		324			Interaction with GLUT4 (By similarity).		A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Missense_Mutation	SNP	ENST00000306739.4	37	c.970G>T	CCDS11796.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282474	0.40394	.	.	ENSG00000169696	ENST00000306739;ENST00000306729;ENST00000344865	T;T	0.10005	2.92;2.92	5.3	4.31	0.51392	.	0.271852	0.35615	N	0.003084	T	0.09512	0.0234	L	0.37850	1.14	0.39016	D	0.959659	P;P;P;B;P	0.40619	0.724;0.487;0.487;0.355;0.724	B;B;B;B;B	0.35470	0.183;0.122;0.203;0.057;0.183	T	0.14504	-1.0470	10	0.46703	T	0.11	-24.1334	13.5103	0.61508	0.0:0.2979:0.7021:0.0	.	247;247;324;324;247	Q9BZE9-3;Q9BZE9-4;Q9BZE9-2;Q9BZE9;C9JAL9	.;.;.;ASPC1_HUMAN;.	L	324;324;247	ENSP00000302176:V324L;ENSP00000306625:V324L	ENSP00000306625:V324L	V	+	1	0	ASPSCR1	77560238	0.999000	0.42202	0.986000	0.45419	0.523000	0.34469	1.979000	0.40608	1.192000	0.43071	0.655000	0.94253	GTG		0.721	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441972.1	NM_024083		10	3	1	0	3.07e-06	3.28e-06	10	3				
AES	166	broad.mit.edu	37	19	3054133	3054133	+	Silent	SNP	C	C	T			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr19:3054133C>T	ENST00000327141.4	-	6	713	c.357G>A	c.(355-357)ctG>ctA	p.L119L	AC005944.2_ENST00000592758.1_RNA|AES_ENST00000586839.1_Silent_p.L63L|AES_ENST00000221561.8_Silent_p.L186L|AES_ENST00000592330.1_Intron	NM_001130.5|NM_198970.1	NP_001121.2|NP_945321.1	Q08117	AES_HUMAN	amino-terminal enhancer of split	119	Gln-rich (Q domain).				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of gene expression (GO:0010629)|negative regulation of protein binding (GO:0032091)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of anoikis (GO:2000210)|response to interleukin-1 (GO:0070555)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			lung(8)	8		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)		TGATAGAGTTCAGCTCGGGAG	0.657																																					Pancreas(11;265 407 11814 26840 35326)	uc002lwy.1		NA																	0					0						c.(355-357)CTG>CTA		amino-terminal enhancer of split isoform b							29.0	27.0	28.0					19																	3054133		2199	4296	6495	SO:0001819	synonymous_variant	166				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	g.chr19:3054133C>T	AK094591	CCDS12101.1, CCDS12102.1	19p13.3	2008-02-05							307	protein-coding gene	gene with protein product		600188				8365415	Standard	NM_001130		Approved	GRG5, TLE5	uc002lwx.1	Q08117		ENST00000327141.4:c.357G>A	19.37:g.3054133C>T						AES_uc002lwx.1_3'UTR|AES_uc002lwz.1_Silent_p.L119L|AES_uc002lxa.1_Silent_p.L63L|AES_uc002lxb.1_Silent_p.L186L|AES_uc002lxc.2_Silent_p.L186L	p.L119L	NM_001130	NP_001121	Q08117	AES_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)	6	530	-		Hepatocellular(1079;0.137)	119			Gln-rich (Q domain).		B2RBL0|Q12808|Q14CJ1|Q96TG9|Q9UDY9	Silent	SNP	ENST00000327141.4	37	c.357G>A	CCDS12102.1																																																																																				0.657	AES-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452154.1	NM_198969		14	17	0	0	0	0	14	17				
ACER1	125981	broad.mit.edu	37	19	6309770	6309770	+	Silent	SNP	G	G	A	rs368558992		TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr19:6309770G>A	ENST00000301452.4	-	4	503	c.426C>T	c.(424-426)aaC>aaT	p.N142N		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	142					cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|ceramide catabolic process (GO:0046514)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|regulation of lipid metabolic process (GO:0019216)|response to alkaline pH (GO:0010446)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ceramidase activity (GO:0017040)|dihydroceramidase activity (GO:0071633)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						GGGCGTAGGCGTTGACCGTGG	0.607																																						uc002mel.2		NA																	0					0						c.(424-426)AAC>AAT		alkaline ceramidase 1		G		0,4406		0,0,2203	147.0	107.0	121.0		426	-2.3	0.3	19		121	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ACER1	NM_133492.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		142/265	6309770	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	125981					endoplasmic reticulum membrane|integral to membrane	ceramidase activity	g.chr19:6309770G>A	AF347024	CCDS12161.1	19p13.3	2013-01-25	2008-12-19	2008-12-19	ENSG00000167769	ENSG00000167769	3.5.1.23	"""Alkaline ceramidase"""	18356	protein-coding gene	gene with protein product		613491	"""N-acylsphingosine amidohydrolase (alkaline ceramidase) 3"""	ASAH3		12783875	Standard	NM_133492		Approved		uc002mel.2	Q8TDN7		ENST00000301452.4:c.426C>T	19.37:g.6309770G>A							p.N142N	NM_133492	NP_597999	Q8TDN7	ACER1_HUMAN			4	504	-			142			Helical; (Potential).			Silent	SNP	ENST00000301452.4	37	c.426C>T	CCDS12161.1																																																																																				0.607	ACER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452982.1	NM_133492		81	109	0	0	0	0	81	109				
DMWD	1762	broad.mit.edu	37	19	46289911	46289911	+	Silent	SNP	C	C	T	rs375340062		TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr19:46289911C>T	ENST00000270223.6	-	3	888	c.843G>A	c.(841-843)gcG>gcA	p.A281A	AC011530.4_ENST00000593999.1_5'Flank|DMWD_ENST00000377735.3_Silent_p.A281A|DMWD_ENST00000601370.1_5'Flank	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	281										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		CCTCACCCACCGCCCACTTGG	0.677																																						uc002pdj.1		NA																	0					0						c.(841-843)GCG>GCA		dystrophia myotonica-containing WD repeat motif		C		1,4405	2.1+/-5.4	0,1,2202	28.0	33.0	31.0		843	-6.1	1.0	19		31	0,8598		0,0,4299	no	coding-synonymous	DMWD	NM_004943.1		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		281/675	46289911	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	1762				meiosis			g.chr19:46289911C>T	L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"""WD repeat domain containing"""	2936	protein-coding gene	gene with protein product		609857	"""dystrophia myotonica-containing WD repeat motif"""			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.843G>A	19.37:g.46289911C>T						DMWD_uc002pdk.1_Silent_p.A281A|DMWD_uc010eko.1_5'UTR	p.A281A	NM_004943	NP_004934	Q09019	DMWD_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)	3	889	-		Ovarian(192;0.0308)|all_neural(266;0.112)	281						Silent	SNP	ENST00000270223.6	37	c.843G>A	CCDS33054.1																																																																																				0.677	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402063.1	NM_004943		41	54	0	0	0	0	41	54				
ZIM2	23619	broad.mit.edu	37	19	57286109	57286109	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr19:57286109G>T	ENST00000391708.3	-	12	2073	c.1531C>A	c.(1531-1533)Caa>Aaa	p.Q511K	ZIM2_ENST00000601070.1_Missense_Mutation_p.Q511K|ZIM2_ENST00000599935.1_Missense_Mutation_p.Q511K|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000221722.5_Missense_Mutation_p.Q511K|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.Q511K|AC006115.3_ENST00000597946.1_RNA	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	511					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		TGATAATGTTGAGTGAGGTAT	0.423																																						uc002qnr.2		NA																	0				ovary(3)	3						c.(1531-1533)CAA>AAA		zinc finger, imprinted 2							109.0	103.0	105.0					19																	57286109		2203	4300	6503	SO:0001583	missense	23619				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57286109G>T	AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"""Zinc fingers, C2H2-type"""	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.1531C>A	19.37:g.57286109G>T	ENSP00000375589:p.Gln511Lys					uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Missense_Mutation_p.Q307K|ZIM2_uc010ygr.1_Missense_Mutation_p.Q307K|ZIM2_uc002qnq.2_Missense_Mutation_p.Q511K|ZIM2_uc010etp.2_Missense_Mutation_p.Q511K|ZIM2_uc010ygs.1_Missense_Mutation_p.Q511K	p.Q511K	NM_015363	NP_056178	Q9NZV7	ZIM2_HUMAN		GBM - Glioblastoma multiforme(193;0.0314)	11	1913	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	511			C2H2-type 5.		Q2M3K1	Missense_Mutation	SNP	ENST00000391708.3	37	c.1531C>A	CCDS33123.1	.	.	.	.	.	.	.	.	.	.	G	9.267	1.044781	0.19748	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.14640	2.49;2.49	4.96	3.9	0.45041	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06142	0.0159	N	0.05414	-0.055	.	.	.	B	0.31485	0.325	B	0.25405	0.06	T	0.26224	-1.0109	8	0.15952	T	0.53	.	10.2694	0.43475	0.0:0.0:0.6406:0.3594	.	511	Q9NZV7	ZIM2_HUMAN	K	511	ENSP00000375589:Q511K;ENSP00000221722:Q511K	ENSP00000221722:Q511K	Q	-	1	0	ZIM2	61977921	0.000000	0.05858	0.259000	0.24435	0.910000	0.53928	-0.515000	0.06290	1.273000	0.44346	0.655000	0.94253	CAA		0.423	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2			64	66	1	0	4.84e-39	5.39e-39	64	66				
COL3A1	1281	broad.mit.edu	37	2	189854843	189854843	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr2:189854843C>T	ENST00000304636.3	+	9	882	c.712C>T	c.(712-714)Cga>Tga	p.R238*	COL3A1_ENST00000317840.5_Nonsense_Mutation_p.R238*	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	238	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.R238*(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TAGACCCGGACGACCTGGAGA	0.383																																						uc002uqj.1		NA																	1	Substitution - Nonsense(1)		large_intestine(1)	central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(712-714)CGA>TGA		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						71.0	73.0	72.0					2																	189854843		2203	4300	6503	SO:0001587	stop_gained	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189854843C>T	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.712C>T	2.37:g.189854843C>T	ENSP00000304408:p.Arg238*					COL3A1_uc010frw.1_5'Flank	p.R238*	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		9	829	+			238			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Nonsense_Mutation	SNP	ENST00000304636.3	37	c.712C>T	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	37	6.349121	0.97494	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	.	.	.	5.68	2.7	0.31948	.	0.000000	0.42420	D	0.000707	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	15.3924	0.74755	0.6901:0.3099:0.0:0.0	.	.	.	.	X	238	.	ENSP00000304408:R238X	R	+	1	2	COL3A1	189563088	0.432000	0.25554	0.966000	0.40874	0.935000	0.57460	1.056000	0.30480	0.328000	0.23435	0.591000	0.81541	CGA		0.383	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		35	73	0	0	0	0	35	73				
STK35	140901	broad.mit.edu	37	20	2097996	2097996	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr20:2097996G>A	ENST00000381482.3	+	3	1848	c.1577G>A	c.(1576-1578)aGa>aAa	p.R526K	STK35_ENST00000246032.3_Missense_Mutation_p.R393K|STK35_ENST00000400064.3_Intron			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	526	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						CTTGAAACCAGAATGGACCAG	0.438																																						uc010gak.2		NA																	0				ovary(1)	1						c.(1576-1578)AGA>AAA		serine/threonine kinase 35							73.0	67.0	69.0					20																	2097996		2203	4300	6503	SO:0001583	missense	140901					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr20:2097996G>A	AL359916	CCDS13024.1, CCDS13024.2	20p13	2008-07-02			ENSG00000125834	ENSG00000125834			16254	protein-coding gene	gene with protein product	"""CLP-36 interacting kinase"""	609370				11973348	Standard	NM_080836		Approved	bA550O8.2, CLIK1	uc002wfw.4	Q8TDR2	OTTHUMG00000031688	ENST00000381482.3:c.1577G>A	20.37:g.2097996G>A	ENSP00000370891:p.Arg526Lys					STK35_uc010zpu.1_Intron|STK35_uc002wfw.3_Missense_Mutation_p.R393K	p.R526K	NM_080836	NP_543026	Q8TDR2	STK35_HUMAN			3	1577	+			526			Protein kinase.		B2RBM3|C7ENV8|Q2NKW6|Q5T3R1|Q5T3R2|Q96AB4|Q9BZ06	Missense_Mutation	SNP	ENST00000381482.3	37	c.1577G>A	CCDS13024.2	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558365	0.86231	.	.	ENSG00000125834	ENST00000381482;ENST00000246032	T;T	0.71103	-0.27;-0.54	5.5	5.5	0.81552	Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.65154	0.2664	L	0.35723	1.085	0.80722	D	1	B	0.34103	0.437	B	0.37091	0.241	T	0.63620	-0.6596	10	0.39692	T	0.17	-8.5183	16.94	0.86215	0.0:0.0:1.0:0.0	.	526	Q8TDR2	STK35_HUMAN	K	526;393	ENSP00000370891:R526K;ENSP00000246032:R393K	ENSP00000246032:R393K	R	+	2	0	STK35	2045996	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.861000	0.98227	0.655000	0.94253	AGA		0.438	STK35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077574.3	NM_080836		65	10	0	0	0	0	65	10				
RIPK4	54101	broad.mit.edu	37	21	43161351	43161351	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr21:43161351A>G	ENST00000352483.2	-	9	2210	c.2146T>C	c.(2146-2148)Tca>Cca	p.S716P	RIPK4_ENST00000542057.1_Missense_Mutation_p.S605P|RIPK4_ENST00000332512.3_Missense_Mutation_p.S668P|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000544709.1_Missense_Mutation_p.S605P			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	716					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TAGCCGTCTGAGGTCATGGCC	0.687																																						uc002yzn.1		NA																	0				ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(2002-2004)TCA>CCA		ankyrin repeat domain 3							49.0	52.0	51.0					21																	43161351		2203	4299	6502	SO:0001583	missense	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161351A>G	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.2146T>C	21.37:g.43161351A>G	ENSP00000330161:p.Ser716Pro						p.S668P	NM_020639	NP_065690	P57078	RIPK4_HUMAN			8	2050	-			668					Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	37	c.2002T>C		.	.	.	.	.	.	.	.	.	.	A	1.912	-0.450488	0.04572	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057	T;T;T;T	0.16073	2.37;2.37;2.37;2.37	4.52	0.0522	0.14301	.	0.632580	0.14317	N	0.327276	T	0.11024	0.0269	L	0.31664	0.95	0.09310	N	1	B	0.29766	0.256	B	0.29176	0.099	T	0.25537	-1.0129	10	0.36615	T	0.2	-12.8065	7.7888	0.29108	0.5563:0.3622:0.0:0.0815	.	668	P57078-2	.	P	668;716;605;605	ENSP00000332454:S668P;ENSP00000330161:S716P;ENSP00000441754:S605P;ENSP00000442901:S605P	ENSP00000332454:S668P	S	-	1	0	RIPK4	42034420	0.000000	0.05858	0.007000	0.13788	0.025000	0.11179	-0.071000	0.11505	-0.036000	0.13669	-0.396000	0.06452	TCA		0.687	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		82	78	0	0	0	0	82	78				
ABCG1	9619	broad.mit.edu	37	21	43704767	43704767	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr21:43704767G>A	ENST00000361802.2	+	7	977	c.832G>A	c.(832-834)Gcc>Acc	p.A278T	ABCG1_ENST00000340588.4_Missense_Mutation_p.A386T|ABCG1_ENST00000398437.1_Missense_Mutation_p.A424T|ABCG1_ENST00000398449.3_Missense_Mutation_p.A278T|ABCG1_ENST00000347800.2_Missense_Mutation_p.A275T|ABCG1_ENST00000398457.2_Missense_Mutation_p.A280T|ABCG1_ENST00000343687.3_Missense_Mutation_p.A289T|ABCG1_ENST00000462050.1_3'UTR	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	278	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CCAGCCCAGCGCCAAACTCTT	0.637																																						uc002zaq.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(832-834)GCC>ACC		ATP-binding cassette sub-family G member 1	Adenosine triphosphate(DB00171)						81.0	80.0	80.0					21																	43704767		2203	4300	6503	SO:0001583	missense	9619				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	g.chr21:43704767G>A	U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.832G>A	21.37:g.43704767G>A	ENSP00000354995:p.Ala278Thr					ABCG1_uc002zan.2_Missense_Mutation_p.A280T|ABCG1_uc002zam.2_Missense_Mutation_p.A256T|ABCG1_uc002zao.2_Missense_Mutation_p.A275T|ABCG1_uc002zap.2_Missense_Mutation_p.A278T|ABCG1_uc002zar.2_Missense_Mutation_p.A289T|ABCG1_uc011aev.1_Missense_Mutation_p.A289T|ABCG1_uc010gpb.1_5'Flank	p.A278T	NM_004915	NP_004906	P45844	ABCG1_HUMAN			7	938	+			278			Cytoplasmic (Potential).|ABC transporter.		Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	ENST00000361802.2	37	c.832G>A	CCDS13682.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.332779|5.332779	0.95733|0.95733	.|.	.|.	ENSG00000160179|ENSG00000160179	ENST00000398457;ENST00000347800;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588|ENST00000489035;ENST00000469119;ENST00000482161	T;T;T;T;T;T;T|.	0.35421|.	1.31;1.31;1.31;1.31;1.31;1.31;1.31|.	4.22|4.22	4.22|4.22	0.49857|0.49857	ATPase, AAA+ type, core (1);ABC transporter-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.50343|0.50343	0.1610|0.1610	N|N	0.16903|0.16903	0.455|0.455	0.80722|0.80722	D|D	1|1	D;P;D;P;P;D|.	0.89917|.	0.998;0.758;1.0;0.582;0.758;0.999|.	P;B;D;B;B;D|.	0.80764|.	0.888;0.358;0.963;0.18;0.249;0.994|.	T|T	0.47724|0.47724	-0.9095|-0.9095	9|5	.|.	.|.	.|.	-33.3836|-33.3836	16.969|16.969	0.86294|0.86294	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	289;289;278;278;275;280|.	B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3|.	.;.;ABCG1_HUMAN;.;.;.|.	T|H	280;275;278;278;289;424;386|13	ENSP00000381475:A280T;ENSP00000291524:A275T;ENSP00000381467:A278T;ENSP00000354995:A278T;ENSP00000339744:A289T;ENSP00000381464:A424T;ENSP00000343820:A386T|.	.|.	A|R	+|+	1|2	0|0	ABCG1|ABCG1	42577836|42577836	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.991000|0.991000	0.79684|0.79684	9.328000|9.328000	0.96403|0.96403	2.065000|2.065000	0.61736|0.61736	0.591000|0.591000	0.81541|0.81541	GCC|CGC		0.637	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	NM_207174		7	209	0	0	0	0	7	209				
ZNRF3	84133	broad.mit.edu	37	22	29446410	29446410	+	Silent	SNP	T	T	G			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr22:29446410T>G	ENST00000544604.2	+	8	2416	c.2241T>G	c.(2239-2241)ggT>ggG	p.G747G	ZNRF3_ENST00000402174.1_Silent_p.G647G|ZNRF3_ENST00000332811.4_Silent_p.G647G|ZNRF3_ENST00000406323.3_Silent_p.G647G	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	747					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GCCCGGCGGGTGGGGAGCCCC	0.692																																						uc003aeg.2		NA																	0				ovary(1)	1						c.(1939-1941)GGT>GGG		zinc and ring finger 3							12.0	14.0	13.0					22																	29446410		1822	3920	5742	SO:0001819	synonymous_variant	84133					integral to membrane	zinc ion binding	g.chr22:29446410T>G	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.2241T>G	22.37:g.29446410T>G						ZNRF3_uc003aeh.1_Silent_p.G647G	p.G647G	NM_032173	NP_115549	Q9ULT6	ZNRF3_HUMAN			8	2106	+			747			Cytoplasmic (Potential).		B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Silent	SNP	ENST00000544604.2	37	c.1941T>G	CCDS56225.1																																																																																				0.692	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		9	43	0	0	0	0	9	43				
AP1B1	162	broad.mit.edu	37	22	29747175	29747175	+	Silent	SNP	G	G	A			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr22:29747175G>A	ENST00000405198.1	-	8	1171	c.1140C>T	c.(1138-1140)tgC>tgT	p.C380C	AP1B1_ENST00000357586.2_Silent_p.C380C|AP1B1_ENST00000432560.2_Silent_p.C380C|AP1B1_ENST00000356015.2_Silent_p.C380C|AP1B1_ENST00000402502.1_Silent_p.C380C|AP1B1_ENST00000317368.7_Silent_p.C380C|AP1B1_ENST00000415447.1_Silent_p.C380C			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	380					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CCTTGATGGCGCAGCGGCCAA	0.547																																						uc003afj.2		NA																	0				ovary(1)|skin(1)	2						c.(1138-1140)TGC>TGT		adaptor-related protein complex 1 beta 1 subunit							200.0	182.0	188.0					22																	29747175		2203	4300	6503	SO:0001819	synonymous_variant	162				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	g.chr22:29747175G>A	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.1140C>T	22.37:g.29747175G>A						AP1B1_uc003afi.2_Silent_p.C380C|AP1B1_uc003afk.2_Silent_p.C380C|AP1B1_uc003afl.2_Silent_p.C380C|AP1B1_uc011ako.1_5'Flank	p.C380C	NM_001127	NP_001118	Q10567	AP1B1_HUMAN			9	1324	-			380					C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Silent	SNP	ENST00000405198.1	37	c.1140C>T	CCDS13855.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.277688	0.23307	.	.	ENSG00000100280	ENST00000415756	.	.	.	5.86	-2.71	0.05986	.	.	.	.	.	T	0.63815	0.2543	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61242	-0.7102	4	.	.	.	-11.9966	13.8568	0.63531	0.473:0.0:0.527:0.0	.	.	.	.	C	93	.	.	R	-	1	0	AP1B1	28077175	0.010000	0.17322	0.975000	0.42487	0.982000	0.71751	-0.529000	0.06186	-0.672000	0.05266	-0.238000	0.12139	CGC		0.547	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127		13	482	0	0	0	0	13	482				
IFRD2	7866	broad.mit.edu	37	3	50326114	50326114	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr3:50326114C>T	ENST00000429673.2	-	10	1243	c.1244G>A	c.(1243-1245)cGc>cAc	p.R415H	IFRD2_ENST00000336089.4_Missense_Mutation_p.R517H|IFRD2_ENST00000484043.1_5'Flank|IFRD2_ENST00000436390.1_Missense_Mutation_p.R351H|IFRD2_ENST00000417626.2_Missense_Mutation_p.R351H			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	415						nucleus (GO:0005634)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AAAGCCGAAGCGCACTATCTC	0.597																																						uc011bdp.1		NA																	0				lung(2)|ovary(1)	3						c.(1243-1245)CGC>CAC		interferon-related developmental regulator 2							67.0	71.0	69.0					3																	50326114		2134	4235	6369	SO:0001583	missense	7866						binding	g.chr3:50326114C>T	U09585		3p21.3	2008-07-18			ENSG00000214706	ENSG00000214706			5457	protein-coding gene	gene with protein product	"""interferon-related protein"""	602725				9050919	Standard	NM_006764		Approved	SKMc15, SM15, IFNRP	uc011bdp.2	Q12894	OTTHUMG00000156935	ENST00000429673.2:c.1244G>A	3.37:g.50326114C>T	ENSP00000398971:p.Arg415His					IFRD2_uc003czb.2_Missense_Mutation_p.R517H	p.R415H	NM_006764	NP_006755	Q12894	IFRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	10	1373	-			415					Q9BVB4|Q9UJ88	Missense_Mutation	SNP	ENST00000429673.2	37	c.1244G>A	CCDS46831.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.010476	0.54361	.	.	ENSG00000214706	ENST00000417626;ENST00000436390;ENST00000336089;ENST00000429673	T;T;T;T	0.54071	0.63;0.63;0.59;0.6	5.53	4.43	0.53597	.	0.274156	0.36519	N	0.002553	T	0.34803	0.0910	L	0.47716	1.5	0.42227	D	0.991872	P;P	0.40250	0.456;0.709	B;B	0.23716	0.027;0.048	T	0.40289	-0.9571	10	0.66056	D	0.02	-22.1513	5.7883	0.18347	0.0:0.7761:0.0:0.2239	.	415;517	Q12894;Q9UJ88	IFRD2_HUMAN;.	H	351;351;517;415	ENSP00000402849:R351H;ENSP00000392316:R351H;ENSP00000336936:R517H;ENSP00000398971:R415H	ENSP00000336936:R517H	R	-	2	0	IFRD2	50301118	0.820000	0.29190	0.998000	0.56505	0.922000	0.55478	1.187000	0.32090	2.769000	0.95229	0.655000	0.94253	CGC		0.597	IFRD2-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006764		18	2	0	0	0	0	18	2				
MRPL3	11222	broad.mit.edu	37	3	131190031	131190031	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr3:131190031C>A	ENST00000264995.3	-	7	869	c.722G>T	c.(721-723)gGa>gTa	p.G241V	MRPL3_ENST00000425847.2_Missense_Mutation_p.G268V	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	241					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						TGCAACAGCTCCAGGTCTCCT	0.423																																						uc003eoh.2		NA																	0					0						c.(721-723)GGA>GTA		mitochondrial ribosomal protein L3							115.0	118.0	117.0					3																	131190031		2203	4300	6503	SO:0001583	missense	11222				translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr3:131190031C>A	X06323	CCDS3071.1	3q21-q23	2012-09-13			ENSG00000114686	ENSG00000114686		"""Mitochondrial ribosomal proteins / large subunits"""	10379	protein-coding gene	gene with protein product		607118		RPML3		2891103	Standard	NM_007208		Approved	MRL3	uc003eoh.3	P09001	OTTHUMG00000159607	ENST00000264995.3:c.722G>T	3.37:g.131190031C>A	ENSP00000264995:p.Gly241Val					MRPL3_uc011blo.1_Missense_Mutation_p.G136V|MRPL3_uc011blp.1_Missense_Mutation_p.G268V	p.G241V	NM_007208	NP_009139	P09001	RM03_HUMAN			7	886	-			241					Q6IBT2	Missense_Mutation	SNP	ENST00000264995.3	37	c.722G>T	CCDS3071.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.8|20.8	4.046062|4.046062	0.75846|0.75846	.|.	.|.	ENSG00000114686|ENSG00000114686	ENST00000264995;ENST00000425847;ENST00000507669|ENST00000511168	T;T;T|.	0.77750|.	-1.12;-1.12;-1.12|.	5.56|5.56	4.67|4.67	0.58626|0.58626	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.89329|0.89329	0.6684|0.6684	H|H	0.99487|0.99487	4.59|4.59	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.93048|0.93048	0.6463|0.6463	10|5	0.87932|.	D|.	0|.	-20.8817|-20.8817	13.8071|13.8071	0.63238|0.63238	0.0:0.9231:0.0:0.0769|0.0:0.9231:0.0:0.0769	.|.	268;241|.	E7ETU7;P09001|.	.;RM03_HUMAN|.	V|C	241;268;136|255	ENSP00000264995:G241V;ENSP00000398536:G268V;ENSP00000422419:G136V|.	ENSP00000264995:G241V|.	G|W	-|-	2|3	0|0	MRPL3|MRPL3	132672721|132672721	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	6.794000|6.794000	0.75135|0.75135	2.614000|2.614000	0.88457|0.88457	0.650000|0.650000	0.86243|0.86243	GGA|TGG		0.423	MRPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356471.3	NM_007208		8	148	1	0	0.00307968	0.00318098	8	148				
TBC1D14	57533	broad.mit.edu	37	4	7016236	7016236	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr4:7016236C>T	ENST00000409757.4	+	12	1833	c.1709C>T	c.(1708-1710)gCg>gTg	p.A570V	TBC1D14_ENST00000451522.2_Missense_Mutation_p.A290V|TBC1D14_ENST00000410031.1_Missense_Mutation_p.A342V|TBC1D14_ENST00000448507.1_Missense_Mutation_p.A570V|TBC1D14_ENST00000446947.2_Missense_Mutation_p.A217V	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	570	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						AAATTATTTGCGCATTTCAAG	0.358																																						uc011bwg.1		NA																	0				ovary(1)|pancreas(1)	2						c.(1708-1710)GCG>GTG		TBC1 domain family, member 14 isoform a							99.0	96.0	97.0					4																	7016236		2203	4299	6502	SO:0001583	missense	57533					intracellular	Rab GTPase activator activity	g.chr4:7016236C>T	AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.1709C>T	4.37:g.7016236C>T	ENSP00000386921:p.Ala570Val					TBC1D14_uc003gjs.3_Missense_Mutation_p.A570V|TBC1D14_uc010idh.2_Missense_Mutation_p.A290V|TBC1D14_uc011bwh.1_Missense_Mutation_p.A217V|TBC1D14_uc003gju.3_Missense_Mutation_p.A61V	p.A570V	NM_001113361	NP_001106832	Q9P2M4	TBC14_HUMAN			12	1788	+			570			Rab-GAP TBC.		B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Missense_Mutation	SNP	ENST00000409757.4	37	c.1709C>T	CCDS3394.2	.	.	.	.	.	.	.	.	.	.	C	15.57	2.871674	0.51695	.	.	ENSG00000132405	ENST00000448507;ENST00000409757;ENST00000410031;ENST00000451522;ENST00000446947	T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76	5.69	5.69	0.88448	Rab-GAP/TBC domain (5);	0.050890	0.85682	D	0.000000	T	0.11965	0.0291	L	0.48362	1.52	0.80722	D	1	B;B;B	0.29886	0.26;0.144;0.046	B;B;B	0.26416	0.063;0.025;0.069	T	0.13629	-1.0502	10	0.13853	T	0.58	-9.8499	18.8151	0.92073	0.0:1.0:0.0:0.0	.	217;290;570	F5GXK4;Q9P2M4-2;Q9P2M4	.;.;TBC14_HUMAN	V	570;570;342;290;217	ENSP00000404041:A570V;ENSP00000386921:A570V;ENSP00000386343:A342V;ENSP00000388886:A290V;ENSP00000405875:A217V	ENSP00000386921:A570V	A	+	2	0	TBC1D14	7067137	0.855000	0.29742	1.000000	0.80357	0.874000	0.50279	1.289000	0.33307	2.700000	0.92200	0.643000	0.83706	GCG		0.358	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	NM_020773		3	66	0	0	0	0	3	66				
FAT4	79633	broad.mit.edu	37	4	126372965	126372965	+	Silent	SNP	A	A	G			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr4:126372965A>G	ENST00000394329.3	+	9	10807	c.10794A>G	c.(10792-10794)ggA>ggG	p.G3598G	FAT4_ENST00000335110.5_Silent_p.G1896G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3598	Cadherin 34. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTTCCACAGGAACTGTGCATA	0.428																																						uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(10792-10794)GGA>GGG		FAT tumor suppressor homolog 4 precursor							86.0	86.0	86.0					4																	126372965		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126372965A>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.10794A>G	4.37:g.126372965A>G						FAT4_uc011cgp.1_Silent_p.G1896G|FAT4_uc003ifi.1_Silent_p.G1076G	p.G3598G	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			9	10794	+			3598			Cadherin 34.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.10794A>G	CCDS3732.3																																																																																				0.428	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		125	155	0	0	0	0	125	155				
FBXW7	55294	broad.mit.edu	37	4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	rs149680468		TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr4:153247289G>C	ENST00000281708.4	-	10	2742	c.1513C>G	c.(1513-1515)Cgc>Ggc	p.R505G	FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line). {ECO:0000269|PubMed:11565033, ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	uc003ims.2		NA		Rec	yes		4	4q31.3	55294	Mis|N|D|F	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			colorectal|endometrial|T-ALL		139	Substitution - Missense(138)|Unknown(1)	p.R505C(36)|p.R505L(6)|p.R505G(4)|p.R425C(2)|p.R425G(2)|p.R266G(2)|p.R505H(2)|p.R505S(1)|p.R505P(1)|p.R266C(1)	haematopoietic_and_lymphoid_tissue(44)|large_intestine(26)|endometrium(20)|urinary_tract(15)|lung(15)|upper_aerodigestive_tract(8)|skin(8)|ovary(2)|biliary_tract(1)	haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308						c.(1513-1515)CGC>GGC		F-box and WD repeat domain containing 7 isoform							167.0	156.0	160.0					4																	153247289		2203	4300	6503	SO:0001583	missense	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	g.chr4:153247289G>C	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1513C>G	4.37:g.153247289G>C	ENSP00000281708:p.Arg505Gly					FBXW7_uc011cii.1_Missense_Mutation_p.R505G|FBXW7_uc003imt.2_Missense_Mutation_p.R505G|FBXW7_uc011cih.1_Missense_Mutation_p.R329G|FBXW7_uc003imq.2_Missense_Mutation_p.R425G|FBXW7_uc003imr.2_Missense_Mutation_p.R387G	p.R505G	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			10	1662	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	505		R -> L (in an ovarian cancer cell line).	WD 4.		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1513C>G	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513685	0.64522	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.72	4.88	0.63580	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.101576	0.64402	D	0.000001	T	0.78679	0.4321	M	0.75085	2.285	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	T	0.81858	-0.0739	10	0.87932	D	0	-12.0024	15.0746	0.72066	0.0681:0.0:0.9319:0.0	.	329;505;387;425	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	G	505;387;425;329	ENSP00000281708:R505G;ENSP00000296555:R387G;ENSP00000263981:R425G;ENSP00000377528:R329G	ENSP00000263981:R425G	R	-	1	0	FBXW7	153466739	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	9.772000	0.98984	1.559000	0.49555	-0.145000	0.13849	CGC		0.468	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			100	120	0	0	0	0	100	120				
HMGCR	3156	broad.mit.edu	37	5	74651207	74651207	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr5:74651207C>A	ENST00000287936.4	+	14	1896	c.1740C>A	c.(1738-1740)agC>agA	p.S580R	HMGCR_ENST00000343975.5_Missense_Mutation_p.S527R|HMGCR_ENST00000511206.1_Missense_Mutation_p.S580R	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	580	Catalytic.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	GAGGTGCCAGCAGCCGAGTCC	0.493																																						uc003kdp.2		NA																	0				ovary(1)	1						c.(1738-1740)AGC>AGA		3-hydroxy-3-methylglutaryl-Coenzyme A reductase	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)						184.0	177.0	179.0					5																	74651207		2203	4300	6503	SO:0001583	missense	3156				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding	g.chr5:74651207C>A		CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"""hydroxymethylglutaryl-CoA reductase"", ""3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"""	142910	"""3-hydroxy-3-methylglutaryl-Coenzyme A reductase"""				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.1740C>A	5.37:g.74651207C>A	ENSP00000287936:p.Ser580Arg					HMGCR_uc011cst.1_Missense_Mutation_p.S600R|HMGCR_uc003kdq.2_Missense_Mutation_p.S527R	p.S580R	NM_000859	NP_000850	P04035	HMDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	14	1896	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	580			Catalytic.		B7Z3Y9|Q8N190	Missense_Mutation	SNP	ENST00000287936.4	37	c.1740C>A	CCDS4027.1	.	.	.	.	.	.	.	.	.	.	C	6.879	0.531621	0.13127	.	.	ENSG00000113161	ENST00000511206;ENST00000544469;ENST00000287936;ENST00000343975	T;T;T	0.40756	1.02;1.02;1.02	6.17	4.27	0.50696	Hydroxymethylglutaryl-CoA reductase, class I/II, catalytic domain (1);Hydroxymethylglutaryl-CoA reductase, class I/II, substrate-binding (1);	0.324055	0.46758	D	0.000272	T	0.18341	0.0440	N	0.08118	0	0.45087	D	0.998107	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.002;0.003	T	0.16600	-1.0397	10	0.30854	T	0.27	-18.0928	3.4188	0.07385	0.1152:0.5211:0.2155:0.1483	.	580;527;580	B2R649;P04035-2;P04035	.;.;HMDH_HUMAN	R	580;511;580;527	ENSP00000426745:S580R;ENSP00000287936:S580R;ENSP00000340816:S527R	ENSP00000287936:S580R	S	+	3	2	HMGCR	74686963	0.530000	0.26330	1.000000	0.80357	0.998000	0.95712	-0.050000	0.11904	2.941000	0.99782	0.655000	0.94253	AGC		0.493	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2			94	160	1	0	8.45e-40	9.48e-40	94	160				
PCDHA3	56145	broad.mit.edu	37	5	140181621	140181621	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr5:140181621C>G	ENST00000522353.2	+	1	839	c.839C>G	c.(838-840)tCt>tGt	p.S280C	PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.S280C	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	280	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)			ATCGCGTATTCTTTCAATACG	0.388																																						uc003lhf.2		NA																	0				ovary(6)|skin(2)	8						c.(838-840)TCT>TGT		protocadherin alpha 3 isoform 1 precursor							96.0	94.0	95.0					5																	140181621		2203	4300	6503	SO:0001583	missense	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140181621C>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.839C>G	5.37:g.140181621C>G	ENSP00000429808:p.Ser280Cys					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.S280C	p.S280C	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	839	+			280			Cadherin 3.|Extracellular (Potential).		O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.839C>G	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	c	6.109	0.388378	0.11581	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.56275	0.47;0.47	4.79	3.92	0.45320	Cadherin (4);Cadherin-like (1);	0.000000	0.39341	U	0.001390	T	0.79034	0.4378	H	0.98559	4.265	0.09310	N	0.999999	D;D	0.89917	1.0;0.999	D;D	0.77557	0.979;0.99	T	0.72030	-0.4413	10	0.87932	D	0	.	4.5601	0.12156	0.2753:0.5157:0.1334:0.0756	.	280;280	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	C	280	ENSP00000429808:S280C;ENSP00000434086:S280C	ENSP00000429808:S280C	S	+	2	0	PCDHA3	140161805	0.000000	0.05858	0.986000	0.45419	0.018000	0.09664	0.374000	0.20501	1.145000	0.42336	-0.470000	0.05040	TCT		0.388	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		69	78	0	0	0	0	69	78				
PIM1	5292	broad.mit.edu	37	6	37140830	37140830	+	Silent	SNP	G	G	A			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr6:37140830G>A	ENST00000373509.5	+	5	1039	c.666G>A	c.(664-666)tcG>tcA	p.S222S	PIM1_ENST00000468243.1_3'UTR	NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	313	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	ATGGCAGGTCGGCGGCAGTCT	0.522			T	BCL6	NHL																																	uc003onk.2		NA		Dom	yes		6	6p21.2	5292	T	pim-1 oncogene			L	BCL6		NHL		0				large_intestine(1)|central_nervous_system(1)	2						c.(664-666)TCG>TCA		non-specific serine/threonine protein kinase	Adenosine monophosphate(DB00131)						107.0	101.0	103.0					6																	37140830		2203	4300	6503	SO:0001819	synonymous_variant	5292				cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein binding|protein serine/threonine kinase activity|transcription factor binding	g.chr6:37140830G>A		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"""pim-1 oncogene"""	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.666G>A	6.37:g.37140830G>A						PIM1_uc011dtw.1_Missense_Mutation_p.R91Q	p.S222S	NM_002648	NP_002639	P11309	PIM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(102;0.241)		5	1096	+			313			Protein kinase.		Q38RT9|Q5T7H7|Q96RG3	Silent	SNP	ENST00000373509.5	37	c.666G>A	CCDS4830.1																																																																																				0.522	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			65	97	0	0	0	0	65	97				
SYNCRIP	10492	broad.mit.edu	37	6	86324547	86324547	+	Missense_Mutation	SNP	T	T	A	rs147197492		TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr6:86324547T>A	ENST00000369622.3	-	11	2299	c.1799A>T	c.(1798-1800)cAt>cTt	p.H600L	RP11-321N4.5_ENST00000503906.1_Intron|SYNCRIP_ENST00000355238.6_Intron	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	600					cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		GTTACCAGAATGATCACCACC	0.478																																						uc003pla.2		NA																	0				ovary(2)	2						c.(1798-1800)CAT>CTT		synaptotagmin binding, cytoplasmic RNA		T	LEU/HIS,LEU/HIS,,,,	0,4406		0,0,2203	102.0	102.0	102.0		1694,1799,,,,	5.3	1.0	6	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,intron,intron,intron,intron	SYNCRIP	NM_001159675.1,NM_006372.4,NM_001159673.1,NM_001159674.1,NM_001159676.1,NM_001159677.1	99,99,,,,	0,1,6502	AA,AT,TT		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,,,,	565/589,600/624,,,,	86324547	1,13005	2203	4300	6503	SO:0001583	missense	10492				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	g.chr6:86324547T>A	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.1799A>T	6.37:g.86324547T>A	ENSP00000358635:p.His600Leu					SYNCRIP_uc003pku.2_Intron|SYNCRIP_uc003pkw.2_Intron|SYNCRIP_uc003pky.2_Intron|SYNCRIP_uc003pkv.2_Intron|SYNCRIP_uc003pkx.2_Intron|SYNCRIP_uc003pkz.2_Missense_Mutation_p.H565L	p.H600L	NM_006372	NP_006363	O60506	HNRPQ_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0389)	11	2340	-		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)	600					E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Missense_Mutation	SNP	ENST00000369622.3	37	c.1799A>T	CCDS5005.1	.	.	.	.	.	.	.	.	.	.	T	13.02	2.113769	0.37339	0.0	1.16E-4	ENSG00000135316	ENST00000369622	T	0.26660	1.72	5.32	5.32	0.75619	.	0.097833	0.64402	D	0.000001	T	0.04952	0.0133	N	0.08118	0	0.58432	D	0.999997	P;P	0.42518	0.675;0.782	B;B	0.29077	0.045;0.098	T	0.26643	-1.0097	10	0.25106	T	0.35	.	15.277	0.73750	0.0:0.0:0.0:1.0	.	600;565	O60506;O60506-2	HNRPQ_HUMAN;.	L	600	ENSP00000358635:H600L	ENSP00000358635:H600L	H	-	2	0	SYNCRIP	86381266	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.222000	0.72249	2.013000	0.59113	0.533000	0.62120	CAT		0.478	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		90	113	0	0	0	0	90	113				
SOGA3	387104	broad.mit.edu	37	6	127796906	127796906	+	Silent	SNP	G	G	A			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr6:127796906G>A	ENST00000525778.1	-	6	3010	c.2265C>T	c.(2263-2265)agC>agT	p.S755S	SOGA3_ENST00000368268.2_Silent_p.S755S|SOGA3_ENST00000556132.1_Silent_p.S755S|SOGA3_ENST00000465909.2_Silent_p.S755S|SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000481848.2_Silent_p.S755S			Q5TF21	SOGA3_HUMAN	SOGA family member 3	755					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TGCCCGCGTCGCTCTCGGCGT	0.692																																						uc003qbd.2		NA																	0				breast(3)|ovary(2)|skin(1)	6						c.(2263-2265)AGC>AGT		hypothetical protein LOC387104 precursor							40.0	47.0	45.0					6																	127796906		2131	4232	6363	SO:0001819	synonymous_variant	387104					integral to membrane		g.chr6:127796906G>A	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.2265C>T	6.37:g.127796906G>A						C6orf174_uc003qbc.2_5'Flank	p.S755S	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)	6	3130	-			755						Silent	SNP	ENST00000525778.1	37	c.2265C>T	CCDS43505.1																																																																																				0.692	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		94	99	0	0	0	0	94	99				
FNDC1	84624	broad.mit.edu	37	6	159653589	159653589	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr6:159653589G>A	ENST00000297267.9	+	11	2245	c.2045G>A	c.(2044-2046)cGc>cAc	p.R682H	FNDC1_ENST00000340366.6_Missense_Mutation_p.R619H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	682	Ser-rich.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R682H(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGCGTTCTCCGCGACAGAAGC	0.716																																						uc010kjv.2		NA																	1	Substitution - Missense(1)	p.R682H(1)	large_intestine(1)	large_intestine(4)|ovary(3)|central_nervous_system(1)	8						c.(2044-2046)CGC>CAC		fibronectin type III domain containing 1							15.0	18.0	17.0					6																	159653589		1954	4109	6063	SO:0001583	missense	84624					extracellular region		g.chr6:159653589G>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2045G>A	6.37:g.159653589G>A	ENSP00000297267:p.Arg682His					FNDC1_uc010kjw.1_Missense_Mutation_p.R567H	p.R682H	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	2245	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	682			Ser-rich.		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.2045G>A	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.251546	0.39797	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.09445	2.98;3.86	4.87	0.863	0.19062	.	0.929336	0.09006	N	0.862294	T	0.02455	0.0075	L	0.34521	1.04	0.09310	N	1	B;B	0.13594	0.008;0.004	B;B	0.13407	0.009;0.002	T	0.45308	-0.9270	10	0.46703	T	0.11	-2.4532	4.2237	0.10570	0.2908:0.1701:0.5391:0.0	.	619;682	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	H	682;619	ENSP00000297267:R682H;ENSP00000342460:R619H	ENSP00000297267:R682H	R	+	2	0	FNDC1	159573579	0.029000	0.19370	0.000000	0.03702	0.070000	0.16714	2.496000	0.45346	0.488000	0.27723	-0.122000	0.15005	CGC		0.716	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		19	21	0	0	0	0	19	21				
PLG	5340	broad.mit.edu	37	6	161155067	161155067	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr6:161155067G>A	ENST00000308192.9	+	13	1691	c.1628G>A	c.(1627-1629)tGc>tAc	p.C543Y		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	543	Kringle 5. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GGTCCCTGGTGCTACACGACA	0.473																																						uc003qtm.3		NA																	0				skin(3)|ovary(1)	4						c.(1627-1629)TGC>TAC		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						253.0	174.0	201.0					6																	161155067		2203	4300	6503	SO:0001583	missense	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161155067G>A	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.1628G>A	6.37:g.161155067G>A	ENSP00000308938:p.Cys543Tyr						p.C543Y	NM_000301	NP_000292	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	13	1691	+			543			Kringle 5.		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	c.1628G>A	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	.	14.67	2.605133	0.46423	.	.	ENSG00000122194	ENST00000308192	D	0.84944	-1.92	3.98	3.98	0.46160	Kringle (4);Kringle-like fold (1);Kringle, conserved site (1);	0.000000	0.43260	U	0.000585	D	0.95446	0.8521	H	0.99659	4.685	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96683	0.9505	10	0.87932	D	0	.	13.0592	0.58997	0.0:0.0:1.0:0.0	.	543	P00747	PLMN_HUMAN	Y	543	ENSP00000308938:C543Y	ENSP00000308938:C543Y	C	+	2	0	PLG	161075057	1.000000	0.71417	1.000000	0.80357	0.293000	0.27360	7.687000	0.84139	2.037000	0.60232	0.462000	0.41574	TGC		0.473	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		30	31	0	0	0	0	30	31				
GNB2	2783	broad.mit.edu	37	7	100275401	100275401	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr7:100275401G>A	ENST00000303210.4	+	7	939	c.457G>A	c.(457-459)Gat>Aat	p.D153N	GNB2_ENST00000436220.1_Missense_Mutation_p.D109N|GNB2_ENST00000419828.1_Missense_Mutation_p.D53N|GNB2_ENST00000393926.1_Missense_Mutation_p.D153N|GNB2_ENST00000427895.1_Missense_Mutation_p.D53N|GNB2_ENST00000393924.1_Missense_Mutation_p.D153N|GNB2_ENST00000424361.1_Missense_Mutation_p.D109N	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	153					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	calcium channel regulator activity (GO:0005246)|GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				CCGCTTCCTGGATGACAACCA	0.627																																						uc003uwb.2		NA																	0				ovary(2)	2						c.(457-459)GAT>AAT		guanine nucleotide-binding protein, beta-2							66.0	55.0	58.0					7																	100275401		2203	4300	6503	SO:0001583	missense	2783				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr7:100275401G>A	M16514	CCDS5703.1	7q21.3-q22.1	2013-01-10			ENSG00000172354	ENSG00000172354		"""WD repeat domain containing"""	4398	protein-coding gene	gene with protein product	"""G protein, beta-2 subunit"", ""guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2"", ""signal-transducing guanine nucleotide-binding regulatory protein beta subunit"", ""transducin beta chain 2"""	139390				9799793	Standard	NM_005273		Approved		uc003uwb.3	P62879	OTTHUMG00000137419	ENST00000303210.4:c.457G>A	7.37:g.100275401G>A	ENSP00000305260:p.Asp153Asn					GNB2_uc003uwc.2_Missense_Mutation_p.D109N|GNB2_uc010lhd.2_Missense_Mutation_p.D109N|GNB2_uc010lhe.2_Missense_Mutation_p.D109N|GNB2_uc003uwd.2_Missense_Mutation_p.D53N|GNB2_uc010lhf.2_Missense_Mutation_p.D53N|GNB2_uc003uwe.2_Missense_Mutation_p.D153N|GNB2_uc003uwf.2_Missense_Mutation_p.D53N	p.D153N	NM_005273	NP_005264	P62879	GBB2_HUMAN			7	730	+	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)	153			WD 3.		B3KPU1|P11016|P54312	Missense_Mutation	SNP	ENST00000303210.4	37	c.457G>A	CCDS5703.1	.	.	.	.	.	.	.	.	.	.	.	13.58	2.280240	0.40294	.	.	ENSG00000172354	ENST00000303210;ENST00000451587;ENST00000436220;ENST00000424361;ENST00000419828;ENST00000427895;ENST00000393926;ENST00000431068;ENST00000393924	T;T;T;T;T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19;0.19;0.19;0.19;0.19	4.79	4.79	0.61399	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.35008	0.0917	N	0.11364	0.135	0.80722	D	1	B	0.10296	0.003	B	0.17979	0.02	T	0.24728	-1.0152	10	0.02654	T	1	-2.4305	15.3749	0.74596	0.0:0.0:1.0:0.0	.	153	P62879	GBB2_HUMAN	N	153;153;109;109;53;53;153;153;153	ENSP00000305260:D153N;ENSP00000399904:D153N;ENSP00000401873:D109N;ENSP00000389391:D109N;ENSP00000390543:D53N;ENSP00000400286:D53N;ENSP00000377503:D153N;ENSP00000390077:D153N;ENSP00000377501:D153N	ENSP00000305260:D153N	D	+	1	0	GNB2	100113337	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.497000	0.73674	2.489000	0.83994	0.462000	0.41574	GAT		0.627	GNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268391.2	NM_005273		46	42	0	0	0	0	46	42				
CSMD1	64478	broad.mit.edu	37	8	3245095	3245095	+	Silent	SNP	C	C	T	rs374751635		TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr8:3245095C>T	ENST00000520002.1	-	19	3261	c.2706G>A	c.(2704-2706)ccG>ccA	p.P902P	CSMD1_ENST00000539096.1_Silent_p.P901P|CSMD1_ENST00000602557.1_Silent_p.P902P|CSMD1_ENST00000400186.3_Silent_p.P902P|CSMD1_ENST00000602723.1_Silent_p.P902P|CSMD1_ENST00000542608.1_Silent_p.P901P|CSMD1_ENST00000537824.1_Silent_p.P901P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	902	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTGTGTACCCCGGGTCACAGC	0.607																																						uc011kwk.1		NA																	0				breast(20)|large_intestine(5)	25						c.(2704-2706)CCG>CCA		CUB and Sushi multiple domains 1 precursor		C		2,4216		0,2,2107	45.0	52.0	50.0		2703	-10.2	0.0	8		50	0,8424		0,0,4212	no	coding-synonymous	CSMD1	NM_033225.5		0,2,6319	TT,TC,CC		0.0,0.0474,0.0158		901/3565	3245095	2,12640	2109	4212	6321	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:3245095C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.2706G>A	8.37:g.3245095C>T						CSMD1_uc011kwj.1_Silent_p.P294P|CSMD1_uc003wqe.2_Silent_p.P58P	p.P902P	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	18	3096	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	902			Extracellular (Potential).|Sushi 5.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.2706G>A		.	.	.	.	.	.	.	.	.	.	C	0.072	-1.201070	0.01581	4.74E-4	0.0	ENSG00000183117	ENST00000335551	.	.	.	5.11	-10.2	0.00374	.	.	.	.	.	T	0.34395	0.0896	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56263	-0.8008	4	.	.	.	.	2.7969	0.05403	0.3001:0.2199:0.3679:0.1121	.	.	.	.	R	382	.	.	G	-	1	0	CSMD1	3232502	0.000000	0.05858	0.007000	0.13788	0.004000	0.04260	-3.486000	0.00455	-4.801000	0.00031	-2.303000	0.00259	GGG		0.607	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		14	18	0	0	0	0	14	18				
FZD3	7976	broad.mit.edu	37	8	28384970	28384970	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr8:28384970C>A	ENST00000240093.3	+	5	1171	c.693C>A	c.(691-693)ttC>ttA	p.F231L	RNA5SP259_ENST00000365541.1_RNA|FZD3_ENST00000537916.1_Missense_Mutation_p.F231L	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	231					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		TCACAAGATTCCGTTATCCTG	0.353																																						uc003xgx.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(691-693)TTC>TTA		frizzled 3 precursor							115.0	116.0	116.0					8																	28384970		2203	4300	6503	SO:0001583	missense	7976				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding	g.chr8:28384970C>A	AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"""GPCR / Class F : Frizzled receptors"""	4041	protein-coding gene	gene with protein product		606143	"""frizzled (Drosophila) homolog 3"", ""frizzled homolog 3 (Drosophila)"", ""frizzled 3, seven transmembrane spanning receptor"", ""frizzled family receptor 3"""			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.693C>A	8.37:g.28384970C>A	ENSP00000240093:p.Phe231Leu					FZD3_uc010lvb.2_Missense_Mutation_p.F231L	p.F231L	NM_017412	NP_059108	Q9NPG1	FZD3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)	5	1171	+		Ovarian(32;2.06e-05)	231			Cytoplasmic (Potential).		A8K615	Missense_Mutation	SNP	ENST00000240093.3	37	c.693C>A	CCDS6069.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230210	0.58777	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	D;D	0.84589	-1.87;-1.87	5.24	2.46	0.29980	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.91379	0.7280	M	0.86502	2.82	0.58432	D	0.99999	D	0.89917	1.0	D	0.97110	1.0	D	0.89109	0.3495	10	0.87932	D	0	.	6.9346	0.24459	0.0:0.6538:0.1271:0.2191	.	231	Q9NPG1	FZD3_HUMAN	L	231	ENSP00000437489:F231L;ENSP00000240093:F231L	ENSP00000240093:F231L	F	+	3	2	FZD3	28440889	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.736000	0.38187	0.214000	0.20742	0.655000	0.94253	TTC		0.353	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866		86	280	1	0	5.72e-32	6.33e-32	86	280				
ADAM2	2515	broad.mit.edu	37	8	39624556	39624556	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr8:39624556A>T	ENST00000265708.4	-	14	1421	c.1318T>A	c.(1318-1320)Tca>Aca	p.S440T	ADAM2_ENST00000347580.4_Missense_Mutation_p.S421T|ADAM2_ENST00000521880.1_Missense_Mutation_p.S440T|ADAM2_ENST00000379853.2_Missense_Mutation_p.S314T	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	440	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				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)		CTTTCTTTTGACATAAACTGA	0.343																																						uc003xnj.2		NA																	0				ovary(1)|lung(1)	2						c.(1318-1320)TCA>ACA		ADAM metallopeptidase domain 2 proprotein							120.0	110.0	114.0					8																	39624556		2203	4300	6503	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.chr8:39624556A>T	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.1318T>A	8.37:g.39624556A>T	ENSP00000265708:p.Ser440Thr					ADAM2_uc003xnk.2_Missense_Mutation_p.S421T|ADAM2_uc011lck.1_Missense_Mutation_p.S440T|ADAM2_uc003xnl.2_Missense_Mutation_p.S314T	p.S440T	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)	14	1393	-		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)	440			Extracellular (Potential).|Disintegrin.		P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	c.1318T>A	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	A	4.371	0.068359	0.08436	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.11604	2.76;2.76;2.76;2.76	4.56	-5.32	0.02722	Disintegrin, conserved site (1);Blood coagulation inhibitor, Disintegrin (6);	.	.	.	.	T	0.04770	0.0129	N	0.20530	0.585	0.09310	N	1	B;B;B;B	0.13145	0.006;0.007;0.005;0.006	B;B;B;B	0.22152	0.038;0.009;0.022;0.038	T	0.43343	-0.9397	8	.	.	.	.	1.282	0.02043	0.1462:0.2037:0.3415:0.3087	.	440;314;421;440	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	T	421;314;440;440	ENSP00000343854:S421T;ENSP00000369182:S314T;ENSP00000265708:S440T;ENSP00000429352:S440T	.	S	-	1	0	ADAM2	39743713	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.908000	0.04063	-1.210000	0.02627	-0.331000	0.08364	TCA		0.343	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		331	117	0	0	0	0	331	117				
PEX2	5828	broad.mit.edu	37	8	77896111	77896111	+	Missense_Mutation	SNP	G	G	T	rs200065382		TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr8:77896111G>T	ENST00000419564.2	-	4	768	c.304C>A	c.(304-306)Caa>Aaa	p.Q102K	PEX2_ENST00000522527.1_Missense_Mutation_p.Q102K|PEX2_ENST00000357039.4_Missense_Mutation_p.Q102K|PEX2_ENST00000520103.1_Missense_Mutation_p.Q102K	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	102					bile acid biosynthetic process (GO:0006699)|cholesterol homeostasis (GO:0042632)|fatty acid beta-oxidation (GO:0006635)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein destabilization (GO:0031648)|protein import into peroxisome matrix (GO:0016558)|regulation of cholesterol biosynthetic process (GO:0045540)|very long-chain fatty acid metabolic process (GO:0000038)	Cdc73/Paf1 complex (GO:0016593)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						CAGATTTTTTGATTTTTACTG	0.373																																						uc003yax.2		NA																	0				ovary(1)	1						c.(304-306)CAA>AAA		peroxin 2		G	LYS/GLN,LYS/GLN,LYS/GLN,LYS/GLN	0,4406		0,0,2203	51.0	49.0	49.0		304,304,304,304	5.0	0.9	8		49	1,8599		0,1,4299	yes	missense,missense,missense,missense	PEX2	NM_000318.2,NM_001079867.1,NM_001172086.1,NM_001172087.1	53,53,53,53	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	102/306,102/306,102/306,102/306	77896111	1,13005	2203	4300	6503	SO:0001583	missense	5828				peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding	g.chr8:77896111G>T	M86852	CCDS6221.1	8q21.11	2010-02-09	2010-01-25	2010-01-25		ENSG00000164751		"""RING-type (C3HC4) zinc fingers"""	9717	protein-coding gene	gene with protein product	"""Zellweger syndrome"", ""peroxin 2"""	170993	"""peroxisomal membrane protein 3 (35kD, Zellweger syndrome)"", ""peroxisomal membrane protein 3, 35kDa"""	PXMP3		1546315, 8858157	Standard	NM_000318		Approved	PMP35, PAF-1, RNF72, ZWS3	uc022awf.1	P28328		ENST00000419564.2:c.304C>A	8.37:g.77896111G>T	ENSP00000400984:p.Gln102Lys					PEX2_uc003yay.2_Missense_Mutation_p.Q102K|PEX2_uc003yaz.2_Missense_Mutation_p.Q102K	p.Q102K	NM_000318	NP_000309	P28328	PEX2_HUMAN			4	762	-			102					Q567S6|Q9BW41	Missense_Mutation	SNP	ENST00000419564.2	37	c.304C>A	CCDS6221.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489642	0.84962	0.0	1.16E-4	ENSG00000164751	ENST00000357039;ENST00000419564;ENST00000520103;ENST00000522527;ENST00000518986	D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83	5.04	5.04	0.67666	Pex, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92935	0.7752	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.91319	0.5080	10	0.25751	T	0.34	-13.8788	18.6359	0.91378	0.0:0.0:1.0:0.0	.	102	P28328	PEX2_HUMAN	K	102	ENSP00000349543:Q102K;ENSP00000400984:Q102K;ENSP00000428590:Q102K;ENSP00000428638:Q102K;ENSP00000429304:Q102K	ENSP00000349543:Q102K	Q	-	1	0	PEX2	78058666	1.000000	0.71417	0.850000	0.33497	0.935000	0.57460	9.017000	0.93651	2.625000	0.88918	0.558000	0.71614	CAA		0.373	PEX2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379122.1	NM_000318		115	57	1	0	4.36e-55	4.96e-55	115	57				
RENBP	5973	broad.mit.edu	37	X	153209359	153209359	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chrX:153209359C>T	ENST00000393700.3	-	4	357	c.277G>A	c.(277-279)Gca>Aca	p.A93T	RENBP_ENST00000412763.1_Missense_Mutation_p.A93T|RENBP_ENST00000462086.1_5'Flank|RENBP_ENST00000369997.3_Missense_Mutation_p.A79T	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	93					N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	GCTTTTGCTGCGTCCAGAAGC	0.577																																						uc004fjo.1		NA																	0				ovary(1)|pancreas(1)	2						c.(277-279)GCA>ACA		renin binding protein	N-Acetyl-D-glucosamine(DB00141)						70.0	50.0	57.0					X																	153209359		2174	4262	6436	SO:0001583	missense	5973				mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity	g.chrX:153209359C>T		CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032			9959	protein-coding gene	gene with protein product	"""N-acylglucosamine 2-epimerase"", ""GlcNAc 2-epimerase"", ""N-acetyl-D-glucosamine 2-epimerase"""	312420	"""renin-binding protein"""			1618798	Standard	NM_002910		Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.277G>A	X.37:g.153209359C>T	ENSP00000377303:p.Ala93Thr					RENBP_uc011mzh.1_Missense_Mutation_p.A93T	p.A93T	NM_002910	NP_002901	P51606	RENBP_HUMAN			4	447	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		93					B4DNZ3|Q96BI6	Missense_Mutation	SNP	ENST00000393700.3	37	c.277G>A	CCDS14738.2	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842592	0.51057	.	.	ENSG00000102032	ENST00000393700;ENST00000412763;ENST00000369997	T;T;T	0.33216	1.42;1.47;1.42	4.75	-9.51	0.00581	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.187348	0.44097	D	0.000483	T	0.53077	0.1774	M	0.89715	3.055	0.28793	N	0.899229	D;D	0.76494	0.999;0.999	P;D	0.64506	0.879;0.926	T	0.73852	-0.3852	10	0.40728	T	0.16	-0.0388	18.9495	0.92636	0.1031:0.8247:0.0:0.0721	.	93;93	P51606-2;P51606	.;RENBP_HUMAN	T	93;93;79	ENSP00000377303:A93T;ENSP00000387811:A93T;ENSP00000359014:A79T	ENSP00000359014:A79T	A	-	1	0	RENBP	152862553	0.022000	0.18835	0.000000	0.03702	0.094000	0.18550	0.279000	0.18771	-3.050000	0.00260	-0.364000	0.07487	GCA		0.577	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3	NM_002910		6	0	0	0	0	0	6	0				
SLC16A4	9122	broad.mit.edu	37	1	110906426	110906427	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr1:110906426_110906427insA	ENST00000369779.4	-	9	1674_1675	c.1425_1426insT	c.(1423-1428)tttgtafs	p.V476fs	SLC16A4_ENST00000437429.2_Frame_Shift_Ins_p.L372fs|SLC16A4_ENST00000472422.2_Frame_Shift_Ins_p.V428fs|SLC16A4_ENST00000369781.4_Frame_Shift_Ins_p.V308fs|SLC16A4_ENST00000541986.1_Frame_Shift_Ins_p.V414fs	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	476					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)	p.F475fs*12(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	GCCAATGGTACAAAAAAAAAGG	0.391																																						uc001dzo.1		NA																	1	Deletion - Frameshift(1)		large_intestine(1)	ovary(3)	3						c.(1423-1428)TTTGTAfs		solute carrier family 16, member 4	Pyruvic acid(DB00119)																																			SO:0001589	frameshift_variant	9122					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr1:110906426_110906427insA	U59185	CCDS823.1, CCDS55621.1, CCDS55622.1, CCDS55623.1, CCDS55624.1	1p13.3	2013-07-18	2013-07-18		ENSG00000168679	ENSG00000168679		"""Solute carriers"""	10925	protein-coding gene	gene with protein product		603878	"""solute carrier family 16 (monocarboxylic acid transporters), member 4"", ""solute carrier family 16, member 4 (monocarboxylic acid transporter 5)"""			9425115	Standard	NM_004696		Approved	MCT4, MCT5	uc001dzo.2	O15374	OTTHUMG00000011285	ENST00000369779.4:c.1426dupT	1.37:g.110906435_110906435dupA	ENSP00000358794:p.Val476fs					SLC16A4_uc009wfs.1_Frame_Shift_Ins_p.F427fs|SLC16A4_uc001dzp.1_Frame_Shift_Ins_p.F307fs|SLC16A4_uc010ovy.1_Frame_Shift_Ins_p.F413fs|SLC16A4_uc001dzq.1_Frame_Shift_Ins_p.F245fs|SLC16A4_uc010ovz.1_Frame_Shift_Ins_p.L372fs	p.F475fs	NM_004696	NP_004687	O15374	MOT5_HUMAN		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	9	1607_1608	-		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	475_476			Helical; (Potential).		A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Frame_Shift_Ins	INS	ENST00000369779.4	37	c.1425_1426insT	CCDS823.1																																																																																				0.391	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000031115.3	NM_004696		10	182	NA	NA	NA	NA	10	182	---	---	---	---
KPRP	448834	broad.mit.edu	37	1	152732518	152732520	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr1:152732518_152732520delAAC	ENST00000606109.1	+	1	482_484	c.454_456delAAC	c.(454-456)aacdel	p.N152del	KPRP_ENST00000368773.1_In_Frame_Del_p.N152del			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	152	Gln-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCAGTCCAGAACTATGTACCCT	0.507																																						uc001fal.1		NA																	0				ovary(4)|pancreas(1)	5						c.(454-456)AACdel		keratinocyte proline-rich protein																																				SO:0001651	inframe_deletion	448834					cytoplasm		g.chr1:152732518_152732520delAAC	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.454_456delAAC	1.37:g.152732518_152732520delAAC	ENSP00000475216:p.Asn152del						p.N152del	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	512_514	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		152			Gln-rich.			In_Frame_Del	DEL	ENST00000606109.1	37	c.454_456delAAC	CCDS30862.1																																																																																				0.507	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		96	129	NA	NA	NA	NA	96	129	---	---	---	---
IRF2BP2	359948	broad.mit.edu	37	1	234743346	234743348	+	In_Frame_Del	DEL	TTG	TTG	-	rs371352845		TCGA-BB-4228-01A-01D-1434-08	TCGA-BB-4228-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd93146-1026-4362-982b-d1fc70e3c65d	6905336e-7cc4-4b72-a515-fda1b8dd7006	g.chr1:234743346_234743348delTTG	ENST00000366609.3	-	2	1329_1331	c.1299_1301delCAA	c.(1297-1302)gacaat>gat	p.N434del	RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000491430.1_5'UTR|IRF2BP2_ENST00000366610.3_In_Frame_Del_p.N418del	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	434					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			GCCCCCTGCATTGTCTGCTACTA	0.581																																						uc001hwg.2		NA																	0					0						c.(1297-1302)GACAAT>GAT		interferon regulatory factor 2 binding protein 2																																				SO:0001651	inframe_deletion	359948				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr1:234743346_234743348delTTG	AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.1299_1301delCAA	1.37:g.234743346_234743348delTTG	ENSP00000355568:p.Asn434del					IRF2BP2_uc009xfw.2_In_Frame_Del_p.N44del|IRF2BP2_uc001hwf.2_In_Frame_Del_p.N418del	p.N434del	NM_182972	NP_892017	Q7Z5L9	I2BP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)		2	1330_1332	-	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	434					B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	In_Frame_Del	DEL	ENST00000366609.3	37	c.1299_1301delCAA	CCDS1602.1																																																																																				0.581	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092705.1	NM_182972		100	182	NA	NA	NA	NA	100	182	---	---	---	---
