#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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
MRPL20	55052	broad.mit.edu	37	1	1337499	1337499	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:1337499A>G	ENST00000344843.7	-	4	509	c.414T>C	c.(412-414)ccT>ccC	p.P138P	MRPL20_ENST00000493287.1_5'UTR|CCNL2_ENST00000400809.3_5'Flank|CCNL2_ENST00000408918.4_5'Flank	NM_017971.3	NP_060441.2	Q9BYC9	RM20_HUMAN	mitochondrial ribosomal protein L20	138					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		AAATGCCTTCAGGTTCCTTCC	0.463																																						uc001afo.3		NaN																	0					0						c.(412-414)CCT>CCC		mitochondrial ribosomal protein L20 precursor							155.0	146.0	149.0					1																	1337499		2203	4296	6499	SO:0001819	synonymous_variant	55052						protein binding|rRNA binding	g.chr1:1337499A>G	AB049644	CCDS26.1	1p36.3-p36.2	2012-09-13			ENSG00000242485	ENSG00000242485		"""Mitochondrial ribosomal proteins / large subunits"""	14478	protein-coding gene	gene with protein product		611833					Standard	NM_017971		Approved	FLJ10024	uc001afo.4	Q9BYC9	OTTHUMG00000002916	ENST00000344843.7:c.414T>C	1.37:g.1337499A>G						CCNL2_uc001afh.2_5'Flank|CCNL2_uc001afj.2_5'Flank|CCNL2_uc001afk.2_5'Flank|CCNL2_uc001afi.2_5'Flank|LOC148413_uc001afn.1_RNA	p.P138P	NM_017971	NP_060441	Q9BYC9	RM20_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	4	510	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	138					B2RE41|B7Z746	Silent	SNP	ENST00000344843.7	37	c.414T>C	CCDS26.1																																																																																				0.463	MRPL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008139.1		NM_017971		32	215	0	0	0	0.007835	0	32	215		
CEP104	9731	broad.mit.edu	37	1	3740058	3740058	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:3740058C>A	ENST00000378230.3	-	19	2757	c.2433G>T	c.(2431-2433)aaG>aaT	p.K811N		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	811						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						AACGGTAACACTTTCCAAACC	0.507																																						uc001aky.2		NaN																	0					0						c.(2431-2433)AAG>AAT		glycine-, glutamate-,							193.0	168.0	177.0					1																	3740058		2203	4300	6503	SO:0001583	missense	9731					centriole	binding	g.chr1:3740058C>A	AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.2433G>T	1.37:g.3740058C>A	ENSP00000367476:p.Lys811Asn					KIAA0562_uc010nzm.1_RNA	p.K811N	NM_014704	NP_055519	O60308	CE104_HUMAN		Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137)	19	2792	-	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212)	811					Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	ENST00000378230.3	37	c.2433G>T	CCDS30571.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.24|16.24	3.066927|3.066927	0.55539|0.55539	.|.	.|.	ENSG00000116198|ENSG00000116198	ENST00000378230|ENST00000438539	T|.	0.32515|.	1.45|.	5.68|5.68	3.81|3.81	0.43845|0.43845	.|.	0.192007|.	0.46145|.	D|.	0.000307|.	T|T	0.65933|0.65933	0.2739|0.2739	M|M	0.73598|0.73598	2.24|2.24	0.80722|0.80722	D|D	1|1	P|.	0.35272|.	0.493|.	B|.	0.41988|.	0.372|.	T|T	0.65738|0.65738	-0.6095|-0.6095	10|5	0.37606|.	T|.	0.19|.	.|.	9.1822|9.1822	0.37149|0.37149	0.0:0.7768:0.0:0.2232|0.0:0.7768:0.0:0.2232	.|.	811|.	O60308|.	CE104_HUMAN|.	N|I	811|108	ENSP00000367476:K811N|.	ENSP00000367476:K811N|.	K|S	-|-	3|2	2|0	CEP104|CEP104	3729918|3729918	0.993000|0.993000	0.37304|0.37304	0.656000|0.656000	0.29637|0.29637	0.549000|0.549000	0.35272|0.35272	0.435000|0.435000	0.21510|0.21510	1.403000|1.403000	0.46800|0.46800	0.655000|0.655000	0.94253|0.94253	AAG|AGT		0.507	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3		NM_014704		10	114	1	0	0.000978159	0.010729	0.000997898	10	114		
CASZ1	54897	broad.mit.edu	37	1	10705093	10705093	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:10705093T>C	ENST00000377022.3	-	18	4066	c.3749A>G	c.(3748-3750)tAt>tGt	p.Y1250C	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1250					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGTCACAAAATAGCAGCCGGT	0.592																																						uc001aro.2		NaN																	0				skin(1)	1						c.(3748-3750)TAT>TGT		castor homolog 1, zinc finger isoform a							86.0	98.0	94.0					1																	10705093		2116	4243	6359	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10705093T>C	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.3749A>G	1.37:g.10705093T>C	ENSP00000366221:p.Tyr1250Cys						p.Y1250C	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	18	4069	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	1250					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.3749A>G	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	T	13.41	2.229063	0.39399	.	.	ENSG00000130940	ENST00000377022	.	.	.	5.15	5.15	0.70609	Zinc finger, C2H2-like (1);	0.000000	0.43919	U	0.000511	T	0.54791	0.1880	L	0.36672	1.1	0.80722	D	1	D	0.67145	0.996	P	0.56216	0.794	T	0.57027	-0.7881	9	0.54805	T	0.06	-22.659	10.8415	0.46718	0.1412:0.0:0.0:0.8588	.	1250	Q86V15	CASZ1_HUMAN	C	1250	.	ENSP00000366221:Y1250C	Y	-	2	0	CASZ1	10627680	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.605000	0.36815	1.943000	0.56356	0.459000	0.35465	TAT		0.592	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2		NM_017766		27	205	0	0	0	0.004289	0	27	205		
VPS13D	55187	broad.mit.edu	37	1	12405437	12405437	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:12405437C>T	ENST00000358136.3	+	43	9022	c.8892C>T	c.(8890-8892)acC>acT	p.T2964T	VPS13D_ENST00000356315.4_Silent_p.T2939T	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACAGACACACCCATGACCTCC	0.438																																						uc001atv.2		NaN																	0				ovary(4)|pancreas(1)	5						c.(8890-8892)ACC>ACT		vacuolar protein sorting 13D isoform 1							147.0	147.0	147.0					1																	12405437		2203	4300	6503	SO:0001819	synonymous_variant	55187				protein localization			g.chr1:12405437C>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.8892C>T	1.37:g.12405437C>T						VPS13D_uc001atw.2_Silent_p.T2939T|VPS13D_uc001atx.2_Silent_p.T2151T	p.T2964T	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	43	9033	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2963						Silent	SNP	ENST00000358136.3	37	c.8892C>T	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	9.476	1.096867	0.20552	.	.	ENSG00000048707	ENST00000011700	.	.	.	5.48	2.39	0.29439	.	.	.	.	.	T	0.45558	0.1348	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35549	-0.9784	4	.	.	.	.	3.6559	0.08221	0.1122:0.4928:0.2392:0.1557	.	.	.	.	L	1786	.	.	P	+	2	0	VPS13D	12328024	0.990000	0.36364	1.000000	0.80357	0.993000	0.82548	0.261000	0.18442	1.292000	0.44672	0.655000	0.94253	CCC		0.438	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2		NM_015378		23	166	0	0	0	0.00333	0	23	166		
PADI2	11240	broad.mit.edu	37	1	17395638	17395638	+	Silent	SNP	G	G	A	rs61731909	byFrequency	TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:17395638G>A	ENST00000375486.4	-	16	1962	c.1899C>T	c.(1897-1899)gaC>gaT	p.D633D	PADI2_ENST00000444885.2_Silent_p.D517D|PADI2_ENST00000466151.1_5'UTR	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	633					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CAGAAATGTCGTCGATGAAGG	0.597													G|||	2	0.000399361	0.0	0.0	5008	,	,		21555	0.001		0.0	False		,,,				2504	0.001					uc001baf.2		NaN																	0				ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6						c.(1897-1899)GAC>GAT		peptidyl arginine deiminase, type II	L-Citrulline(DB00155)	G		2,4404	4.2+/-10.8	0,2,2201	115.0	105.0	108.0		1899	-8.4	0.4	1	dbSNP_129	108	0,8600		0,0,4300	no	coding-synonymous	PADI2	NM_007365.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		633/666	17395638	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	11240				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17395638G>A	AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"""Peptidyl arginine deiminases"""	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.1899C>T	1.37:g.17395638G>A						PADI2_uc010ocm.1_Silent_p.D517D	p.D633D	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	16	1981	-		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)	633					Q96DA7|Q9UPN2	Silent	SNP	ENST00000375486.4	37	c.1899C>T	CCDS177.1																																																																																				0.597	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1				19	173	0	0	0	0.003954	0	19	173		
PADI1	29943	broad.mit.edu	37	1	17552329	17552329	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:17552329G>C	ENST00000375471.4	+	5	524	c.432G>C	c.(430-432)gaG>gaC	p.E144D		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	144					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GGGGCCCTGAGGGCTATGGGG	0.602																																					Esophageal Squamous(80;414 1257 4580 27746 50832)	uc001bah.1		NaN																	0					0						c.(430-432)GAG>GAC		peptidylarginine deiminase type I	L-Citrulline(DB00155)						84.0	90.0	88.0					1																	17552329		2203	4300	6503	SO:0001583	missense	29943				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17552329G>C	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.432G>C	1.37:g.17552329G>C	ENSP00000364620:p.Glu144Asp						p.E144D	NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	5	524	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	144					A1L4K6|Q70SX6	Missense_Mutation	SNP	ENST00000375471.4	37	c.432G>C	CCDS178.1	.	.	.	.	.	.	.	.	.	.	G	7.973	0.749467	0.15778	.	.	ENSG00000142623	ENST00000375471	T	0.17213	2.29	4.91	3.98	0.46160	Protein-arginine deiminase (PAD), central domain (2);	0.318960	0.33753	N	0.004589	T	0.08313	0.0207	N	0.19112	0.55	0.80722	D	1	B	0.11235	0.004	B	0.12156	0.007	T	0.24835	-1.0149	10	0.12766	T	0.61	-30.5594	4.3978	0.11372	0.0882:0.1501:0.6074:0.1543	.	144	Q9ULC6	PADI1_HUMAN	D	144	ENSP00000364620:E144D	ENSP00000364620:E144D	E	+	3	2	PADI1	17424916	0.103000	0.21917	0.999000	0.59377	0.855000	0.48748	-0.221000	0.09202	2.274000	0.75844	0.305000	0.20034	GAG		0.602	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1		NM_013358		18	150	0	0	0	0.010504	0	18	150		
ZBTB40	9923	broad.mit.edu	37	1	22816495	22816495	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:22816495C>T	ENST00000375647.4	+	2	261	c.54C>T	c.(52-54)tgC>tgT	p.C18C	ZBTB40_ENST00000374651.4_Silent_p.C18C|ZBTB40_ENST00000404138.1_Silent_p.C18C	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	18					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		ACACTCTGTGCAAGGAGCAGC	0.547																																						uc001bft.2		NaN																	0				ovary(1)	1						c.(52-54)TGC>TGT		zinc finger and BTB domain containing 40							82.0	80.0	81.0					1																	22816495		2203	4300	6503	SO:0001819	synonymous_variant	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22816495C>T	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.54C>T	1.37:g.22816495C>T						ZBTB40_uc001bfu.2_Silent_p.C18C|ZBTB40_uc009vqi.1_Silent_p.C18C	p.C18C	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	3	565	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	18					O75066|Q5TFU5|Q8N1R1	Silent	SNP	ENST00000375647.4	37	c.54C>T	CCDS224.1																																																																																				0.547	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1		NM_014870		13	126	0	0	0	0.004007	0	13	126		
EPHB2	2048	broad.mit.edu	37	1	23233202	23233202	+	Splice_Site	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:23233202G>C	ENST00000400191.3	+	11	1906		c.e11-1		EPHB2_ENST00000374630.3_Splice_Site|EPHB2_ENST00000374632.3_Splice_Site|EPHB2_ENST00000374627.1_Splice_Site	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2						angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TTCTCTCTCAGGGGAGTTTGG	0.567																																						uc009vqj.1		NaN																	0				ovary(3)|lung(1)|pancreas(1)	5						c.e11-1		ephrin receptor EphB2 isoform 1 precursor							46.0	39.0	41.0					1																	23233202		2203	4300	6503	SO:0001630	splice_region_variant	2048	Hereditary_Prostate_Cancer			axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23233202G>C	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.1889-1G>C	1.37:g.23233202G>C						EPHB2_uc001bge.2_Splice_Site_p.G631_splice|EPHB2_uc001bgf.2_Splice_Site_p.G630_splice|EPHB2_uc010odu.1_Splice_Site_p.G572_splice	p.G630_splice	NM_017449	NP_059145	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	11	2034	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)						O43477|Q5T0U6|Q5T0U7|Q5T0U8	Splice_Site	SNP	ENST00000400191.3	37	c.1889_splice		.	.	.	.	.	.	.	.	.	.	G	17.81	3.479904	0.63849	.	.	ENSG00000133216	ENST00000374625;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5937	0.88005	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EPHB2	23105789	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	9.657000	0.98554	2.730000	0.93505	0.650000	0.86243	.		0.567	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2		NM_017449	Intron	7	48	0	0	0	0.00308	0	7	48		
PAQR7	164091	broad.mit.edu	37	1	26189908	26189908	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:26189908C>T	ENST00000374296.3	-	2	1089	c.423G>A	c.(421-423)ctG>ctA	p.L141L	RP1-125I3.2_ENST00000455431.1_RNA	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	141					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		CCACATAGTCCAGGAAGAAGA	0.547																																					Esophageal Squamous(111;1206 1556 18433 19151 38418)	uc001bkx.2		NaN																	0				breast(3)	3						c.(421-423)CTG>CTA		progestin and adipoQ receptor family member VII							91.0	94.0	93.0					1																	26189908		2203	4300	6503	SO:0001819	synonymous_variant	164091				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr1:26189908C>T		CCDS267.1	1p35.3	2012-08-10			ENSG00000182749	ENSG00000182749			23146	protein-coding gene	gene with protein product	"""membrane progestin receptor alpha"""	607779					Standard	NM_178422		Approved	mSR, MPRA	uc001bkx.3	Q86WK9	OTTHUMG00000007373	ENST00000374296.3:c.423G>A	1.37:g.26189908C>T							p.L141L	NM_178422	NP_848509	Q86WK9	MPRA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)	2	1090	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	141			Helical; Name=3; (Potential).		A2A2D3|Q5XKF9|Q86VE4	Silent	SNP	ENST00000374296.3	37	c.423G>A	CCDS267.1																																																																																				0.547	PAQR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019312.1		NM_178422		36	181	0	0	0	0.010771	0	36	181		
MACF1	23499	broad.mit.edu	37	1	39801743	39801743	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:39801743A>G	ENST00000372915.3	+	36	9585	c.9498A>G	c.(9496-9498)caA>caG	p.Q3166Q	MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Silent_p.Q1601Q|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Silent_p.Q3198Q|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Silent_p.Q3161Q|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3166					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAAACATCAAATTTCCTCAT	0.373																																						uc010oiu.1		NaN																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(4801-4803)CAA>CAG		microfilament and actin filament cross-linker							60.0	63.0	62.0					1																	39801743		2202	4299	6501	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39801743A>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.9498A>G	1.37:g.39801743A>G						MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	p.Q1601Q	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	4934	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	3166					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.4803A>G																																																																																					0.373	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		NM_033044		20	102	0	0	0	0.010504	0	20	102		
PLK3	1263	broad.mit.edu	37	1	45266717	45266717	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:45266717G>C	ENST00000372201.4	+	3	567	c.328G>C	c.(328-330)Gag>Cag	p.E110Q	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	110	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GATCCTAAATGAGATTGAGCT	0.587																																						uc001cmn.2		NaN																	0					0						c.(328-330)GAG>CAG		polo-like kinase 3							71.0	70.0	70.0					1																	45266717		2203	4300	6503	SO:0001583	missense	1263					membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:45266717G>C	AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"""cytokine-inducible kinase"", ""polo-like kinase 3 (Drosophila)"""	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.328G>C	1.37:g.45266717G>C	ENSP00000361275:p.Glu110Gln					PLK3_uc001cmo.2_RNA	p.E110Q	NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN			3	428	+	Acute lymphoblastic leukemia(166;0.155)		110			Protein kinase.		Q15767|Q5JR99|Q96CV1	Missense_Mutation	SNP	ENST00000372201.4	37	c.328G>C	CCDS515.1	.	.	.	.	.	.	.	.	.	.	g	35	5.495460	0.96355	.	.	ENSG00000173846	ENST00000372201;ENST00000543983	T	0.64618	-0.11	4.86	4.86	0.63082	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.87059	0.6083	H	0.97783	4.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92234	0.5795	9	0.87932	D	0	-18.3489	17.0188	0.86428	0.0:0.0:1.0:0.0	.	110	Q9H4B4	PLK3_HUMAN	Q	110;85	ENSP00000361275:E110Q	ENSP00000361275:E110Q	E	+	1	0	PLK3	45039304	1.000000	0.71417	0.974000	0.42286	0.974000	0.67602	9.854000	0.99522	2.270000	0.75569	0.550000	0.68814	GAG		0.587	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1		NM_004073		5	113	0	0	0	0.001168	0	5	113		
STIL	6491	broad.mit.edu	37	1	47746122	47746122	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:47746122C>G	ENST00000360380.3	-	13	2371	c.2008G>C	c.(2008-2010)Gat>Cat	p.D670H	STIL_ENST00000396221.2_Missense_Mutation_p.D670H|STIL_ENST00000243182.6_Missense_Mutation_p.D670H|STIL_ENST00000337817.5_Missense_Mutation_p.D670H|STIL_ENST00000371877.3_Missense_Mutation_p.D670H	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	670	PIN1-binding. {ECO:0000250}.				cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CTGCCCATATCTCCCTGAGGT	0.473																																						uc001crc.1		NaN																	0				lung(2)|skin(1)	3						c.(2008-2010)GAT>CAT		SCL/TAL1 interrupting locus isoform 2							175.0	155.0	162.0					1																	47746122		2203	4300	6503	SO:0001583	missense	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47746122C>G	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.2008G>C	1.37:g.47746122C>G	ENSP00000353544:p.Asp670His					TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.D623H|STIL_uc010omo.1_Missense_Mutation_p.D670H|STIL_uc001crd.1_Missense_Mutation_p.D670H|STIL_uc001cre.1_Missense_Mutation_p.D670H|STIL_uc001crf.1_Missense_Mutation_p.D283H|STIL_uc001crg.1_Missense_Mutation_p.D623H	p.D670H	NM_003035	NP_003026	Q15468	STIL_HUMAN			12	2163	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	670			PIN1-binding (By similarity).		Q5T0C5|Q68CN9	Missense_Mutation	SNP	ENST00000360380.3	37	c.2008G>C	CCDS548.1	.	.	.	.	.	.	.	.	.	.	C	5.556	0.287408	0.10513	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475	T;T;T;T;T;T	0.43294	2.27;2.27;2.27;2.27;2.27;0.95	5.54	1.17	0.20885	.	0.946213	0.08976	N	0.866519	T	0.21631	0.0521	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.33512	0.005;0.415;0.005;0.259;0.259	B;B;B;B;B	0.28139	0.004;0.086;0.004;0.086;0.086	T	0.14868	-1.0457	10	0.46703	T	0.11	0.5814	8.7851	0.34816	0.0:0.3488:0.0:0.6512	.	670;623;670;670;670	E9PSF2;Q5T0C7;B7ZLW5;Q15468-2;Q15468	.;.;.;.;STIL_HUMAN	H	670;670;670;670;670;623	ENSP00000353544:D670H;ENSP00000337367:D670H;ENSP00000360944:D670H;ENSP00000379523:D670H;ENSP00000243182:D670H;ENSP00000411664:D623H	ENSP00000243182:D670H	D	-	1	0	STIL	47518709	0.083000	0.21467	0.399000	0.26333	0.303000	0.27691	0.198000	0.17217	0.204000	0.20548	-0.142000	0.14014	GAT		0.473	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2		NM_003035		50	135	0	0	0	0.01441	0	50	135		
TMEM61	199964	broad.mit.edu	37	1	55457707	55457707	+	Silent	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:55457707T>C	ENST00000371268.3	+	3	838	c.564T>C	c.(562-564)tcT>tcC	p.S188S	RP11-12C17.2_ENST00000436960.1_RNA	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	188						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						ATGCCGTTTCTGCGGAGACGA	0.612																																						uc001cyd.2		NaN																	0					0						c.(562-564)TCT>TCC		transmembrane protein 61							112.0	109.0	110.0					1																	55457707		2203	4300	6503	SO:0001819	synonymous_variant	199964					integral to membrane		g.chr1:55457707T>C	BC029775	CCDS601.1	1p32.3	2008-02-05			ENSG00000143001	ENSG00000143001			27296	protein-coding gene	gene with protein product						12477932	Standard	NM_182532		Approved		uc001cyd.3	Q8N0U2	OTTHUMG00000009991	ENST00000371268.3:c.564T>C	1.37:g.55457707T>C							p.S188S	NM_182532	NP_872338	Q8N0U2	TMM61_HUMAN			3	838	+			188						Silent	SNP	ENST00000371268.3	37	c.564T>C	CCDS601.1																																																																																				0.612	TMEM61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027683.1		NM_182532		93	209	0	0	0	0.01441	0	93	209		
LHX8	431707	broad.mit.edu	37	1	75622729	75622729	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:75622729C>T	ENST00000294638.5	+	9	1626	c.962C>T	c.(961-963)aCg>aTg	p.T321M	LHX8_ENST00000356261.3_Missense_Mutation_p.T311M	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	321					female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CAAGATGGAACGATGTTAACT	0.478																																						uc001dgo.2		NaN																	0				ovary(3)	3						c.(961-963)ACG>ATG		LIM homeobox 8							213.0	187.0	196.0					1																	75622729		2203	4300	6503	SO:0001583	missense	431707					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:75622729C>T	AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"""Homeoboxes / LIM class"""	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.962C>T	1.37:g.75622729C>T	ENSP00000294638:p.Thr321Met					LHX8_uc001dgq.2_Missense_Mutation_p.T260M	p.T321M	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN			9	1626	+			321					E9PGE3	Missense_Mutation	SNP	ENST00000294638.5	37	c.962C>T	CCDS30756.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.664875	0.88251	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.86769	-2.17;-2.15	5.14	5.14	0.70334	.	0.178868	0.52532	D	0.000073	T	0.81866	0.4913	L	0.29908	0.895	0.46260	D	0.998954	D	0.54047	0.964	P	0.47744	0.556	D	0.84657	0.0704	10	0.62326	D	0.03	.	18.9963	0.92813	0.0:1.0:0.0:0.0	.	321	Q68G74	LHX8_HUMAN	M	321;311	ENSP00000294638:T321M;ENSP00000348597:T311M	ENSP00000294638:T321M	T	+	2	0	LHX8	75395317	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.121000	0.77160	2.569000	0.86673	0.557000	0.71058	ACG		0.478	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1		NM_001001933		18	84	0	0	0	0.00278	0	18	84		
NEXN	91624	broad.mit.edu	37	1	78383288	78383288	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:78383288A>G	ENST00000334785.7	+	3	249	c.65A>G	c.(64-66)tAt>tGt	p.Y22C	NEXN_ENST00000457030.1_Missense_Mutation_p.Y22C|NEXN_ENST00000330010.8_Intron|NEXN_ENST00000294624.8_Missense_Mutation_p.Y22C	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		CCAAAAACCTATGTACCAAAA	0.348																																						uc001dic.3		NaN																	0				ovary(2)	2						c.(64-66)TAT>TGT		nexilin (F actin binding protein)							75.0	67.0	70.0					1																	78383288		1818	4086	5904	SO:0001583	missense	91624				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle	g.chr1:78383288A>G	AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"""Immunoglobulin superfamily / I-set domain containing"""	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.65A>G	1.37:g.78383288A>G	ENSP00000333938:p.Tyr22Cys					NEXN_uc001dia.3_Missense_Mutation_p.Y22C|NEXN_uc009wcb.1_Intron|NEXN_uc001dib.3_Intron|NEXN_uc001did.1_5'Flank|NEXN_uc001dif.1_5'Flank	p.Y22C	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN		Colorectal(170;0.114)	3	362	+			22						Missense_Mutation	SNP	ENST00000334785.7	37	c.65A>G	CCDS41351.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.982460	0.74474	.	.	ENSG00000162614	ENST00000457030;ENST00000294624;ENST00000334785;ENST00000440324	T;T;T;T	0.76316	-0.6;-1.01;-0.62;-0.79	5.51	5.51	0.81932	.	0.000000	0.47093	D	0.000246	D	0.84492	0.5484	M	0.67397	2.05	0.50039	D	0.999841	D	0.89917	1.0	D	0.87578	0.998	D	0.86693	0.1924	10	0.87932	D	0	-11.4621	15.9178	0.79535	1.0:0.0:0.0:0.0	.	22	Q0ZGT2	NEXN_HUMAN	C	22	ENSP00000388048:Y22C;ENSP00000294624:Y22C;ENSP00000333938:Y22C;ENSP00000411902:Y22C	ENSP00000294624:Y22C	Y	+	2	0	NEXN	78155876	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.752000	0.91632	2.216000	0.71823	0.533000	0.62120	TAT		0.348	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1		NM_144573		10	51	0	0	0	0.013537	0	10	51		
COL24A1	255631	broad.mit.edu	37	1	86304318	86304318	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:86304318G>C	ENST00000370571.2	-	43	3997	c.3631C>G	c.(3631-3633)Cca>Gca	p.P1211A	COL24A1_ENST00000436319.1_Missense_Mutation_p.P1211A	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1211	Collagen-like 13.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TCCCCCACTGGACCCTACAGA	0.408																																						uc001dlj.2		NaN																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(3631-3633)CCA>GCA		collagen, type XXIV, alpha 1 precursor							124.0	121.0	122.0					1																	86304318		1860	4104	5964	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86304318G>C	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.3631C>G	1.37:g.86304318G>C	ENSP00000359603:p.Pro1211Ala					COL24A1_uc001dli.2_Missense_Mutation_p.P347A|COL24A1_uc010osd.1_Missense_Mutation_p.P511A|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	p.P1211A	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	43	3673	-			1211			Collagen-like 13.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.3631C>G	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	G	9.032	0.987641	0.18966	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;D	0.97642	1.29;-4.47	5.14	3.25	0.37280	.	1.286170	0.05642	N	0.583640	D	0.92971	0.7763	M	0.64676	1.99	0.58432	D	0.999991	B;B	0.29766	0.149;0.256	B;B	0.32583	0.148;0.138	D	0.88808	0.3290	10	0.42905	T	0.14	.	5.9401	0.19187	0.161:0.0:0.6844:0.1546	.	1211;1211	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	A	1211	ENSP00000359603:P1211A;ENSP00000392531:P1211A	ENSP00000359603:P1211A	P	-	1	0	COL24A1	86076906	1.000000	0.71417	0.579000	0.28588	0.992000	0.81027	3.280000	0.51677	0.654000	0.30846	0.563000	0.77884	CCA		0.408	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4		NM_152890		25	133	0	0	0	0.003271	0	25	133		
GBP1	2633	broad.mit.edu	37	1	89525999	89525999	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:89525999G>T	ENST00000370473.4	-	3	418	c.199C>A	c.(199-201)Ctg>Atg	p.L67M		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	67	GB1/RHD3-type G.|GTPase domain (Globular).				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		GTGGAGCCCAGAGAGAAGCCT	0.517																																						uc001dmx.2		NaN																	0				ovary(1)|skin(1)	2						c.(199-201)CTG>ATG		guanylate binding protein 1,							76.0	76.0	76.0					1																	89525999		2203	4300	6503	SO:0001583	missense	2633				interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89525999G>T	BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"""guanylate binding protein 1, interferon-inducible, 67kDa"""			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.199C>A	1.37:g.89525999G>T	ENSP00000359504:p.Leu67Met						p.L67M	NM_002053	NP_002044	P32455	GBP1_HUMAN		all cancers(265;0.0156)|Epithelial(280;0.0291)	3	419	-		Lung NSC(277;0.123)	67					D3DT26|Q5T8M1	Missense_Mutation	SNP	ENST00000370473.4	37	c.199C>A	CCDS718.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298830	0.60195	.	.	ENSG00000117228	ENST00000370473;ENST00000542693	T	0.78595	-1.19	4.23	3.29	0.37713	Guanylate-binding protein, N-terminal (1);	0.091151	0.44285	N	0.000470	T	0.82157	0.4976	M	0.89414	3.03	0.40409	D	0.979735	P	0.51537	0.946	P	0.55391	0.775	D	0.84670	0.0711	10	0.66056	D	0.02	.	11.6387	0.51220	0.0:0.1817:0.8183:0.0	.	67	P32455	GBP1_HUMAN	M	67;30	ENSP00000359504:L67M	ENSP00000359504:L67M	L	-	1	2	GBP1	89298587	0.941000	0.31946	0.999000	0.59377	0.771000	0.43674	1.257000	0.32932	0.740000	0.32651	0.313000	0.20887	CTG		0.517	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029289.3		NM_002053		14	112	1	0	1.99824e-07	0.00499	2.12429e-07	14	112		
LRIG2	9860	broad.mit.edu	37	1	113655277	113655277	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:113655277G>A	ENST00000361127.5	+	14	2173	c.1975G>A	c.(1975-1977)Gtc>Atc	p.V659I	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	659	Ig-like C2-type 2.				innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CGAGGATGACGTCTTCTTTAT	0.483																																						uc001edf.1		NaN																	0				ovary(3)	3						c.(1975-1977)GTC>ATC		leucine-rich repeats and immunoglobulin-like							125.0	115.0	118.0					1																	113655277		2203	4300	6503	SO:0001583	missense	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113655277G>A	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.1975G>A	1.37:g.113655277G>A	ENSP00000355396:p.Val659Ile					LRIG2_uc009wgn.1_Missense_Mutation_p.V556I	p.V659I	NM_014813	NP_055628	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	14	2173	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	659			Ig-like C2-type 2.|Extracellular (Potential).		Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	c.1975G>A	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.911130	0.72983	.	.	ENSG00000198799	ENST00000361127	T	0.67171	-0.25	5.45	5.45	0.79879	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.059619	0.64402	D	0.000002	T	0.51975	0.1706	N	0.26042	0.785	0.40344	D	0.979069	P	0.46706	0.883	P	0.44772	0.46	T	0.60031	-0.7342	10	0.59425	D	0.04	.	19.2881	0.94087	0.0:0.0:1.0:0.0	.	659	O94898	LRIG2_HUMAN	I	659	ENSP00000355396:V659I	ENSP00000355396:V659I	V	+	1	0	LRIG2	113456800	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.159000	0.64923	2.560000	0.86352	0.591000	0.81541	GTC		0.483	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2		NM_014813		10	56	0	0	0	0.006214	0	10	56		
FMO5	2330	broad.mit.edu	37	1	146658516	146658516	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:146658516G>A	ENST00000254090.4	-	9	1953	c.1565C>T	c.(1564-1566)gCt>gTt	p.A522V	FMO5_ENST00000369272.3_3'UTR|RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.10_ENST00000606856.1_RNA|FMO5_ENST00000441068.2_Intron|RP11-337C18.8_ENST00000607149.1_RNA	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	522						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					GAAGGCAAGAGCTAGCATAAA	0.403																																						uc001epi.2		NaN																	0				ovary(3)	3						c.(1564-1566)GCT>GTT		flavin containing monooxygenase 5 isoform 1							99.0	95.0	96.0					1																	146658516		2203	4300	6503	SO:0001583	missense	2330					integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:146658516G>A	Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.1565C>T	1.37:g.146658516G>A	ENSP00000254090:p.Ala522Val					FMO5_uc001eph.3_Intron|FMO5_uc001epj.2_3'UTR	p.A522V	NM_001461	NP_001452	P49326	FMO5_HUMAN			9	1954	-	all_hematologic(923;0.0487)		522					B2RBG1|C9JJD1|Q8IV22	Missense_Mutation	SNP	ENST00000254090.4	37	c.1565C>T	CCDS926.1	.	.	.	.	.	.	.	.	.	.	.	2.865	-0.235204	0.05983	.	.	ENSG00000131781	ENST00000254090	T	0.52057	0.68	5.27	3.41	0.39046	.	0.702903	0.14452	N	0.318727	T	0.15176	0.0366	L	0.29908	0.895	0.42266	D	0.992039	B	0.15473	0.013	B	0.20955	0.032	T	0.07654	-1.0761	10	0.10636	T	0.68	-4.3943	9.7025	0.40196	0.1655:0.0:0.8345:0.0	.	522	P49326	FMO5_HUMAN	V	522	ENSP00000254090:A522V	ENSP00000254090:A522V	A	-	2	0	FMO5	145125140	0.460000	0.25776	0.022000	0.16811	0.051000	0.14879	2.498000	0.45363	0.800000	0.34041	0.655000	0.94253	GCT		0.403	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040373.2		NM_001461		9	76	0	0	0	0.008291	0	9	76		
TCHHL1	126637	broad.mit.edu	37	1	152059640	152059640	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:152059640G>C	ENST00000368806.1	-	3	582	c.518C>G	c.(517-519)tCt>tGt	p.S173C		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	173							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ATTGTGTTCAGATGCTTCTCC	0.438																																						uc001ezo.1		NaN																	0				ovary(1)|skin(1)	2						c.(517-519)TCT>TGT		trichohyalin-like 1							147.0	134.0	138.0					1																	152059640		2203	4300	6503	SO:0001583	missense	126637						calcium ion binding	g.chr1:152059640G>C		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.518C>G	1.37:g.152059640G>C	ENSP00000357796:p.Ser173Cys						p.S173C	NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	583	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		173					B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	c.518C>G	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	13.99	2.403175	0.42613	.	.	ENSG00000182898	ENST00000368806	T	0.30182	1.54	5.39	4.28	0.50868	.	0.186191	0.26594	N	0.023513	T	0.34048	0.0884	L	0.56769	1.78	0.09310	N	1	D	0.76494	0.999	D	0.64595	0.927	T	0.05241	-1.0897	10	0.66056	D	0.02	-0.1298	9.8956	0.41316	0.1088:0.0:0.8912:0.0	.	173	Q5QJ38	TCHL1_HUMAN	C	173	ENSP00000357796:S173C	ENSP00000357796:S173C	S	-	2	0	TCHHL1	150326264	0.001000	0.12720	0.016000	0.15963	0.043000	0.13939	0.820000	0.27323	2.513000	0.84729	0.563000	0.77884	TCT		0.438	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2		XM_060104		9	127	0	0	0	0.008291	0	9	127		
TCHHL1	126637	broad.mit.edu	37	1	152060608	152060608	+	Silent	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:152060608G>C	ENST00000368806.1	-	2	76	c.12C>G	c.(10-12)ctC>ctG	p.L4L		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	4							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CATTTCTCAGGAGCTGAGGCA	0.458																																						uc001ezo.1		NaN																	0				ovary(1)|skin(1)	2						c.(10-12)CTC>CTG		trichohyalin-like 1							84.0	81.0	82.0					1																	152060608		2203	4300	6503	SO:0001819	synonymous_variant	126637						calcium ion binding	g.chr1:152060608G>C		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.12C>G	1.37:g.152060608G>C							p.L4L	NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		2	77	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		4					B2RPK8|Q5VTJ9	Silent	SNP	ENST00000368806.1	37	c.12C>G	CCDS30857.1																																																																																				0.458	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2		XM_060104		7	105	0	0	0	0.004482	0	7	105		
HRNR	388697	broad.mit.edu	37	1	152185716	152185716	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:152185716C>G	ENST00000368801.2	-	3	8464	c.8389G>C	c.(8389-8391)Ggt>Cgt	p.G2797R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2797					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACTATAACCAGAGGACTGT	0.537																																						uc001ezt.1		NaN																	0				skin(2)|ovary(1)	3						c.(8389-8391)GGT>CGT		hornerin							106.0	109.0	108.0					1																	152185716		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152185716C>G	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.8389G>C	1.37:g.152185716C>G	ENSP00000357791:p.Gly2797Arg						p.G2797R	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	8465	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2797			30.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.8389G>C	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	6.138	0.393739	0.11638	.	.	ENSG00000197915	ENST00000368801	T	0.02103	4.45	2.94	-1.99	0.07457	.	.	.	.	.	T	0.00496	0.0016	N	0.14661	0.345	0.09310	N	1	B	0.24963	0.115	B	0.20767	0.031	T	0.41161	-0.9524	9	0.35671	T	0.21	.	8.6493	0.34025	0.0:0.6728:0.0:0.3272	.	2797	Q86YZ3	HORN_HUMAN	R	2797	ENSP00000357791:G2797R	ENSP00000357791:G2797R	G	-	1	0	HRNR	150452340	0.000000	0.05858	0.000000	0.03702	0.115000	0.19883	0.083000	0.14871	-0.336000	0.08438	0.205000	0.17691	GGT		0.537	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1		XM_373868		21	166	0	0	0	0.00333	0	21	166		
TPM3	7170	broad.mit.edu	37	1	154141837	154141837	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:154141837C>T	ENST00000368530.2	-	9	990	c.798G>A	c.(796-798)ctG>ctA	p.L266L	TPM3_ENST00000341372.3_Intron|TPM3_ENST00000341485.5_Intron|TPM3_ENST00000330188.9_Intron|TPM3_ENST00000323144.7_Intron|TPM3_ENST00000469717.1_Intron|TPM3_ENST00000271850.7_Intron|TPM3_ENST00000302206.5_Intron|TPM3_ENST00000328159.4_Silent_p.L229L|TPM3_ENST00000368531.2_Intron|RN7SL431P_ENST00000582918.1_RNA|TPM3_ENST00000368533.3_Intron	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3	266					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle thin filament tropomyosin (GO:0005862)|stress fiber (GO:0001725)			TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					CCTTGTACTTCAGTTTCTGGG	0.517			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""																																	uc001fec.1		NaN		Dom	yes		1	1q22-q23	7170	T	tropomyosin 3			"""E, L"""	NTRK1|ALK		papillary thyroid|ALCL	TPM3/ALK(33)	0				haematopoietic_and_lymphoid_tissue(22)|soft_tissue(11)|skin(1)	34						c.(796-798)CTG>CTA		tropomyosin 3 isoform 1							166.0	150.0	156.0					1																	154141837		2203	4300	6503	SO:0001819	synonymous_variant	7170				cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding	g.chr1:154141837C>T	BC008425	CCDS1060.1, CCDS41400.1, CCDS41401.1, CCDS41402.1, CCDS41403.1, CCDS60274.1, CCDS60275.1, CCDS72922.1	1q21.2	2014-09-17			ENSG00000143549	ENSG00000143549		"""Tropomyosins"""	12012	protein-coding gene	gene with protein product		191030		NEM1		1829807	Standard	NM_153649		Approved	TRK	uc001fec.2	P06753	OTTHUMG00000035853	ENST00000368530.2:c.798G>A	1.37:g.154141837C>T						TPM3_uc001fdx.1_Intron|TPM3_uc010pei.1_Intron|TPM3_uc001fdy.1_Intron|TPM3_uc001fdz.1_Intron|TPM3_uc001fea.1_Intron|TPM3_uc001feb.1_Intron|TPM3_uc010pej.1_Intron|TPM3_uc009wor.2_Intron|TPM3_uc001fed.1_Silent_p.L229L	p.L266L	NM_152263	NP_689476	P06753	TPM3_HUMAN			9	913	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		265			By similarity.		D3DV71|P12324|Q2QD06|Q5VU58|Q5VU63|Q5VU66|Q5VU71|Q5VU72|Q8TCG3|Q969Q2|Q9NQH8	Silent	SNP	ENST00000368530.2	37	c.798G>A	CCDS41403.1																																																																																				0.517	TPM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087271.2		NM_152263		8	131	0	0	0	0.008291	0	8	131		
SMG5	23381	broad.mit.edu	37	1	156230278	156230278	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:156230278A>G	ENST00000361813.5	-	15	2391	c.2247T>C	c.(2245-2247)ttT>ttC	p.F749F	SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	749					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					GATCCGTGTCAAAGTTAAAGC	0.547																																						uc001foc.3		NaN																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(2245-2247)TTT>TTC		SMG5 homolog nonsense mediated mRNA decay							104.0	102.0	103.0					1																	156230278		2203	4300	6503	SO:0001819	synonymous_variant	23381				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	g.chr1:156230278A>G	AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.2247T>C	1.37:g.156230278A>G						SMG5_uc009wrv.2_Silent_p.F234F	p.F749F	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN			15	2396	-	Hepatocellular(266;0.158)		749					D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Silent	SNP	ENST00000361813.5	37	c.2247T>C	CCDS1137.1																																																																																				0.547	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1		NM_015327		24	179	0	0	0	0.010818	0	24	179		
POGK	57645	broad.mit.edu	37	1	166818806	166818806	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:166818806C>G	ENST00000367875.1	+	5	1350	c.990C>G	c.(988-990)caC>caG	p.H330Q	POGK_ENST00000536514.1_Missense_Mutation_p.H245Q|POGK_ENST00000537173.1_Missense_Mutation_p.H212Q|POGK_ENST00000367876.4_Missense_Mutation_p.H330Q			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	330					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						TGCCCCAGCACCTGCCGGAAG	0.547																																					GBM(76;192 1530 30153 48742)	uc001gdt.1		NaN																	0				ovary(1)	1						c.(988-990)CAC>CAG		pogo transposable element with KRAB domain							77.0	80.0	79.0					1																	166818806		2203	4300	6503	SO:0001583	missense	57645				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr1:166818806C>G	AB040946	CCDS1254.1	1q23.2	2013-01-08			ENSG00000143157	ENSG00000143157		"""-"""	18800	protein-coding gene	gene with protein product	"""KRAB box domain containing 2"""						Standard	NM_017542		Approved	KIAA15131, LST003, BASS2, KRBOX2	uc001gdt.1	Q9P215	OTTHUMG00000034325	ENST00000367875.1:c.990C>G	1.37:g.166818806C>G	ENSP00000356849:p.His330Gln					POGK_uc010ple.1_Missense_Mutation_p.H245Q|POGK_uc010plf.1_Missense_Mutation_p.H212Q	p.H330Q	NM_017542	NP_060012	Q9P215	POGK_HUMAN			5	1110	+			330					Q5TIJ1|Q8TE07	Missense_Mutation	SNP	ENST00000367875.1	37	c.990C>G	CCDS1254.1	.	.	.	.	.	.	.	.	.	.	C	1.691	-0.503985	0.04261	.	.	ENSG00000143157	ENST00000537173;ENST00000536514;ENST00000367876;ENST00000367875	T;T;T;T	0.29397	1.58;1.57;4.81;4.81	5.5	2.47	0.30058	.	0.123226	0.36893	N	0.002356	T	0.04227	0.0117	N	0.14661	0.345	0.27475	N	0.952746	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.32798	-0.9893	8	.	.	.	-31.0426	1.3536	0.02177	0.1563:0.3456:0.3155:0.1825	.	212;245;330	G3V1P0;B4DS22;Q9P215	.;.;POGK_HUMAN	Q	212;245;330;330	ENSP00000442763:H212Q;ENSP00000441187:H245Q;ENSP00000356850:H330Q;ENSP00000356849:H330Q	.	H	+	3	2	POGK	165085430	0.983000	0.35010	1.000000	0.80357	0.988000	0.76386	0.078000	0.14761	0.902000	0.36520	0.655000	0.94253	CAC		0.547	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082888.1		NM_017542		35	118	0	0	0	0.007835	0	35	118		
FMO4	2329	broad.mit.edu	37	1	171310693	171310693	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:171310693A>G	ENST00000367749.3	+	10	1722	c.1392A>G	c.(1390-1392)ggA>ggG	p.G464G		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	464					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TTTTCTTTGGACCATGTACTC	0.498																																					Pancreas(24;816 862 7754 7993 32832)	uc001gho.2		NaN																	0				kidney(2)|skin(1)	3						c.(1390-1392)GGA>GGG		flavin containing monooxygenase 4							121.0	101.0	108.0					1																	171310693		2203	4300	6503	SO:0001819	synonymous_variant	2329				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171310693A>G	BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.1392A>G	1.37:g.171310693A>G							p.G464G	NM_002022	NP_002013	P31512	FMO4_HUMAN			10	1609	+	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		464					Q53XR0	Silent	SNP	ENST00000367749.3	37	c.1392A>G	CCDS1295.1																																																																																				0.498	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086223.1		NM_002022		14	113	0	0	0	0.00499	0	14	113		
DNM3	26052	broad.mit.edu	37	1	172017833	172017833	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:172017833G>C	ENST00000355305.5	+	10	1435	c.1278G>C	c.(1276-1278)aaG>aaC	p.K426N	DNM3_ENST00000358155.4_Missense_Mutation_p.K426N|DNM3_ENST00000367733.2_Missense_Mutation_p.K426N|DNM3_ENST00000367731.1_Missense_Mutation_p.K426N|DNM3_ENST00000520906.1_Missense_Mutation_p.K426N			Q9UQ16	DYN3_HUMAN	dynamin 3	426					endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CTTCCTTGAAGAGTGTGGATC	0.383																																						uc001gie.2		NaN																	0				breast(1)	1						c.(1276-1278)AAG>AAC		dynamin 3 isoform a							131.0	127.0	129.0					1																	172017833		1869	4113	5982	SO:0001583	missense	26052				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	g.chr1:172017833G>C	AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.1278G>C	1.37:g.172017833G>C	ENSP00000347457:p.Lys426Asn					DNM3_uc001gid.3_Missense_Mutation_p.K426N|DNM3_uc009wwb.2_Missense_Mutation_p.K426N|DNM3_uc001gif.2_Missense_Mutation_p.K426N	p.K426N	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN			10	1454	+			426					A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	ENST00000355305.5	37	c.1278G>C		.	.	.	.	.	.	.	.	.	.	G	17.08	3.298441	0.60195	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000367733;ENST00000355305;ENST00000367731;ENST00000520906;ENST00000523513	T;T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8;-0.8	5.63	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.64821	0.2633	M	0.84773	2.715	0.51233	D	0.999917	B;P;B;B	0.35192	0.022;0.489;0.318;0.022	B;B;B;B	0.36289	0.049;0.221;0.221;0.072	T	0.70809	-0.4771	10	0.54805	T	0.06	.	7.2736	0.26271	0.2578:0.0:0.7422:0.0	.	426;426;426;426	E5RHK8;Q9UQ16-2;Q9UQ16-3;Q6P2G1	.;.;.;.	N	426;426;426;426;426;426;316	ENSP00000350876:K426N;ENSP00000356707:K426N;ENSP00000347457:K426N;ENSP00000356705:K426N;ENSP00000429701:K426N;ENSP00000429416:K316N	ENSP00000347457:K426N	K	+	3	2	DNM3	170284456	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	1.119000	0.31258	1.379000	0.46325	0.563000	0.77884	AAG		0.383	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1		NM_015569		7	150	0	0	0	0.00308	0	7	150		
SOAT1	6646	broad.mit.edu	37	1	179320559	179320559	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:179320559C>G	ENST00000367619.3	+	15	1701	c.1558C>G	c.(1558-1560)Caa>Gaa	p.Q520E	SOAT1_ENST00000540564.1_Missense_Mutation_p.Q462E|SOAT1_ENST00000539888.1_Missense_Mutation_p.Q455E|SOAT1_ENST00000535686.1_Missense_Mutation_p.Q256E	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	520					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	CTTTTATTCTCAAGAATGGTA	0.418																																						uc001gml.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1558-1560)CAA>GAA		sterol O-acyltransferase 1	Ezetimibe(DB00973)|Hesperetin(DB01094)						213.0	197.0	202.0					1																	179320559		2203	4300	6503	SO:0001583	missense	6646				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr1:179320559C>G	L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"""acyl-Coenzyme A: cholesterol acyltransferase"""	102642	"""sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"""	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.1558C>G	1.37:g.179320559C>G	ENSP00000356591:p.Gln520Glu					SOAT1_uc010pni.1_Missense_Mutation_p.Q455E|SOAT1_uc001gmm.2_Missense_Mutation_p.Q462E|SOAT1_uc010pnj.1_Missense_Mutation_p.Q256E|SOAT1_uc010pnk.1_Missense_Mutation_p.Q455E	p.Q520E	NM_003101	NP_003092	P35610	SOAT1_HUMAN			15	1621	+			520					A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Missense_Mutation	SNP	ENST00000367619.3	37	c.1558C>G	CCDS1330.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626307	0.87560	.	.	ENSG00000057252	ENST00000539888;ENST00000540564;ENST00000535686;ENST00000367619	T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8	5.58	5.58	0.84498	.	0.050835	0.85682	D	0.000000	D	0.84579	0.5503	M	0.85710	2.77	0.80722	D	1	P;P	0.50156	0.932;0.866	P;P	0.53649	0.731;0.686	D	0.86806	0.1995	10	0.66056	D	0.02	-28.0227	17.0671	0.86562	0.0:1.0:0.0:0.0	.	462;520	A8K3P4;P35610	.;SOAT1_HUMAN	E	455;462;256;520	ENSP00000441356:Q455E;ENSP00000445315:Q462E;ENSP00000442503:Q256E;ENSP00000356591:Q520E	ENSP00000356591:Q520E	Q	+	1	0	SOAT1	177587182	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.451000	0.80668	2.618000	0.88619	0.563000	0.77884	CAA		0.418	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2		NM_003101		10	249	0	0	0	0.013537	0	10	249		
CACNA1E	777	broad.mit.edu	37	1	181759626	181759626	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:181759626G>T	ENST00000367573.2	+	44	5832	c.5832G>T	c.(5830-5832)caG>caT	p.Q1944H	CACNA1E_ENST00000357570.5_Missense_Mutation_p.Q1895H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.Q1551H|CACNA1E_ENST00000526775.1_Missense_Mutation_p.Q1925H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.Q1876H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.Q1925H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.Q1944H	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1944					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCTCTCCCCAGGATATATTCC	0.493																																						uc001gow.2		NaN																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(5830-5832)CAG>CAT		calcium channel, voltage-dependent, R type,							90.0	100.0	97.0					1																	181759626		1925	4113	6038	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181759626G>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.5832G>T	1.37:g.181759626G>T	ENSP00000356545:p.Gln1944His					CACNA1E_uc009wxs.2_Missense_Mutation_p.Q1832H|CACNA1E_uc009wxt.2_Missense_Mutation_p.Q1170H	p.Q1944H	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			44	5997	+			1944			Cytoplasmic (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.5832G>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.186387	0.57909	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96651	-3.93;-3.93;-4.08;-3.93;-4.0;-4.08;-4.08	5.42	3.12	0.35913	.	0.750922	0.13444	N	0.387439	D	0.93631	0.7966	L	0.41492	1.28	0.48830	D	0.999717	B;P	0.47677	0.1;0.899	B;P	0.44990	0.05;0.466	D	0.89842	0.4003	10	0.66056	D	0.02	.	7.6522	0.28354	0.3911:0.0:0.6089:0.0	.	1925;1944	Q15878-2;Q15878-3	.;.	H	1944;1925;1895;1876;1551;1925;1944	ENSP00000356542:Q1944H;ENSP00000434814:Q1925H;ENSP00000350183:Q1895H;ENSP00000351101:Q1876H;ENSP00000356539:Q1551H;ENSP00000353222:Q1925H;ENSP00000356545:Q1944H	ENSP00000350183:Q1895H	Q	+	3	2	CACNA1E	180026249	1.000000	0.71417	0.996000	0.52242	0.814000	0.46013	1.660000	0.37397	0.406000	0.25560	0.655000	0.94253	CAG		0.493	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2		NM_000721		52	106	1	0	2.18419e-29	0.01441	2.50962e-29	52	106		
CFH	3075	broad.mit.edu	37	1	196659330	196659330	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:196659330G>A	ENST00000359637.2	+	8	1167	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K	CFH_ENST00000439155.2_Missense_Mutation_p.E433K|CFH_ENST00000367429.4_Missense_Mutation_p.E433K			P08603	CFAH_HUMAN	complement factor H	433	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TACATGTATGGAGAATGGCTG	0.433																																						uc001gtj.3		NaN																	0				skin(4)|ovary(1)|breast(1)	6						c.(1297-1299)GAG>AAG		complement factor H isoform a precursor							109.0	92.0	98.0					1																	196659330		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196659330G>A	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.1105G>A	1.37:g.196659330G>A	ENSP00000352658:p.Glu369Lys					CFH_uc001gti.3_Missense_Mutation_p.E433K|CFH_uc009wyw.2_Missense_Mutation_p.E408K|CFH_uc009wyx.2_Missense_Mutation_p.E369K	p.E433K	NM_000186	NP_000177	P08603	CFAH_HUMAN			9	1537	+			433			Sushi 7.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37	c.1297G>A		.	.	.	.	.	.	.	.	.	.	G	14.91	2.674995	0.47781	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.64803	-0.12;-0.12;-0.12	4.69	4.69	0.59074	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.70281	0.3206	L	0.43646	1.37	0.33181	D	0.549574	P;D;D;P	0.89917	0.556;0.998;1.0;0.953	B;D;D;P	0.79784	0.364;0.974;0.993;0.793	T	0.69950	-0.5006	9	0.27082	T	0.32	.	13.4323	0.61062	0.0:0.0:1.0:0.0	.	369;433;433;433	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	K	433;433;433;369	ENSP00000356399:E433K;ENSP00000402656:E433K;ENSP00000352658:E369K	ENSP00000352658:E369K	E	+	1	0	CFH	194925953	1.000000	0.71417	0.964000	0.40570	0.127000	0.20565	3.034000	0.49751	2.894000	0.99253	0.655000	0.94253	GAG		0.433	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1		NM_000186		5	112	0	0	0	0.001984	0	5	112		
DDX59	83479	broad.mit.edu	37	1	200617674	200617674	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:200617674C>T	ENST00000331314.6	-	7	1702	c.1489G>A	c.(1489-1491)Gaa>Aaa	p.E497K	DDX59_ENST00000447706.2_Missense_Mutation_p.E497K|DDX59_ENST00000367348.3_Missense_Mutation_p.E497K	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	497	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						ACTACAACTTCATAGTCTCCT	0.363																																						uc009wzk.2		NaN																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(1489-1491)GAA>AAA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 59							137.0	132.0	134.0					1																	200617674		2203	4300	6503	SO:0001583	missense	83479					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding	g.chr1:200617674C>T	BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"""Zinc fingers, HIT-type"", ""DEAD-boxes"""	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.1489G>A	1.37:g.200617674C>T	ENSP00000330460:p.Glu497Lys					DDX59_uc010ppl.1_Missense_Mutation_p.E497K	p.E497K	NM_001031725	NP_001026895	Q5T1V6	DDX59_HUMAN			7	1732	-			497			Helicase C-terminal.		Q6PJL2|Q8IVW3|Q9H0W3	Missense_Mutation	SNP	ENST00000331314.6	37	c.1489G>A	CCDS30964.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313785	0.60414	.	.	ENSG00000118197	ENST00000447706;ENST00000413408;ENST00000367348;ENST00000367346;ENST00000331314;ENST00000433235	T;T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78;-0.78	5.5	5.5	0.81552	Helicase, C-terminal (3);	0.196581	0.53938	D	0.000054	T	0.56514	0.1990	N	0.01535	-0.81	0.80722	D	1	P;P	0.45634	0.863;0.775	B;B	0.43990	0.438;0.428	T	0.70200	-0.4937	10	0.54805	T	0.06	-18.6157	19.4047	0.94643	0.0:1.0:0.0:0.0	.	497;497	B7Z5N6;Q5T1V6	.;DDX59_HUMAN	K	497;135;497;83;497;140	ENSP00000394367:E497K;ENSP00000394304:E135K;ENSP00000356317:E497K;ENSP00000330460:E497K;ENSP00000409954:E140K	ENSP00000330460:E497K	E	-	1	0	DDX59	198884297	1.000000	0.71417	0.202000	0.23494	0.298000	0.27526	7.802000	0.85969	2.577000	0.86979	0.643000	0.83706	GAA		0.363	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2		NM_001031725.4		10	235	0	0	0	0.010729	0	10	235		
KIF21B	23046	broad.mit.edu	37	1	200967639	200967639	+	Missense_Mutation	SNP	G	G	C	rs368106761		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:200967639G>C	ENST00000422435.2	-	14	2266	c.1950C>G	c.(1948-1950)atC>atG	p.I650M	KIF21B_ENST00000461742.2_Missense_Mutation_p.I650M|KIF21B_ENST00000332129.2_Missense_Mutation_p.I650M|KIF21B_ENST00000360529.5_Missense_Mutation_p.I650M	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	650					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.I650I(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCAGCTCGTCGATCAGCTTCT	0.562																																						uc001gvs.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|skin(3)	6						c.(1948-1950)ATC>ATG		kinesin family member 21B							100.0	93.0	95.0					1																	200967639		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200967639G>C	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.1950C>G	1.37:g.200967639G>C	ENSP00000411831:p.Ile650Met					KIF21B_uc001gvr.1_Missense_Mutation_p.I650M|KIF21B_uc009wzl.1_Missense_Mutation_p.I650M|KIF21B_uc010ppn.1_Missense_Mutation_p.I650M	p.I650M	NM_017596	NP_060066	O75037	KI21B_HUMAN			14	2267	-			650			Potential.		B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.1950C>G	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.313615	0.23908	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.31	-9.81	0.00487	.	0.169751	0.49305	D	0.000142	T	0.54983	0.1892	M	0.86028	2.79	0.30929	N	0.72717	P;P;D;P	0.76494	0.477;0.477;0.999;0.612	B;B;D;B	0.81914	0.054;0.054;0.995;0.115	T	0.72843	-0.4170	10	0.48119	T	0.1	.	16.8935	0.86094	0.7419:0.0:0.1837:0.0744	.	650;650;650;650	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	M	650	ENSP00000328494:I650M;ENSP00000353724:I650M;ENSP00000433808:I650M;ENSP00000411831:I650M	ENSP00000328494:I650M	I	-	3	3	KIF21B	199234262	0.000000	0.05858	0.121000	0.21740	0.940000	0.58332	-2.393000	0.01055	-2.321000	0.00641	-1.007000	0.02485	ATC		0.562	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1		XM_371332		23	235	0	0	0	0.004656	0	23	235		
KDM5B	10765	broad.mit.edu	37	1	202743773	202743773	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:202743773T>C	ENST00000367265.3	-	3	1537	c.373A>G	c.(373-375)Agg>Ggg	p.R125G	KDM5B_ENST00000367264.2_Missense_Mutation_p.R125G	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	125	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AAGATCTTCCTCTCCACATGT	0.358																																						uc001gyf.2		NaN																	0				ovary(2)|breast(2)|urinary_tract(1)	5						c.(373-375)AGG>GGG		jumonji, AT rich interactive domain 1B							94.0	93.0	93.0					1																	202743773		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202743773T>C	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.373A>G	1.37:g.202743773T>C	ENSP00000356234:p.Arg125Gly					KDM5B_uc009xag.2_Missense_Mutation_p.R125G|KDM5B_uc001gyg.1_5'UTR	p.R125G	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN			3	489	-			125			ARID.		O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.373A>G	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.756460	0.69648	.	.	ENSG00000117139	ENST00000367265;ENST00000367264	T;T	0.58060	0.36;0.36	5.36	5.36	0.76844	ARID/BRIGHT DNA-binding domain (5);	0.000000	0.85682	D	0.000000	T	0.56016	0.1957	N	0.17278	0.47	0.58432	D	0.999999	D;B	0.89917	1.0;0.439	D;P	0.91635	0.999;0.573	T	0.62120	-0.6921	10	0.87932	D	0	-22.5035	11.3707	0.49697	0.0:0.0:0.1515:0.8485	.	125;125	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	G	125	ENSP00000356234:R125G;ENSP00000356233:R125G	ENSP00000356233:R125G	R	-	1	2	KDM5B	201010396	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.039000	0.41193	2.026000	0.59711	0.455000	0.32223	AGG		0.358	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2		NM_006618		17	68	0	0	0	0.012319	0	17	68		
C4BPA	722	broad.mit.edu	37	1	207300065	207300065	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:207300065C>T	ENST00000367070.3	+	7	908	c.714C>T	c.(712-714)acC>acT	p.T238T		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	238	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TAGAAATCACCTGTCGCAAGC	0.373																																						uc001hfo.2		NaN																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(712-714)ACC>ACT		complement component 4 binding protein, alpha							99.0	97.0	98.0					1																	207300065		2203	4300	6503	SO:0001819	synonymous_variant	722				complement activation, classical pathway|innate immune response	extracellular region	protein binding	g.chr1:207300065C>T	M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"""complement component 4-binding protein, alpha"""	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.714C>T	1.37:g.207300065C>T							p.T238T	NM_000715	NP_000706	P04003	C4BPA_HUMAN			7	908	+			238			Sushi 4.		Q5VVQ8	Silent	SNP	ENST00000367070.3	37	c.714C>T	CCDS1477.1																																																																																				0.373	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3				21	100	0	0	0	0.004656	0	21	100		
WDR26	80232	broad.mit.edu	37	1	224588738	224588738	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:224588738G>A	ENST00000414423.2	-	9	1526	c.1333C>T	c.(1333-1335)Cat>Tat	p.H445Y	MIR4742_ENST00000581069.1_RNA|WDR26_ENST00000366852.2_3'UTR|WDR26_ENST00000295024.6_Missense_Mutation_p.H298Y|WDR26_ENST00000479727.1_5'Flank	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	445						cytoplasm (GO:0005737)|nucleus (GO:0005634)				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		CTGTCTTCATGAGACTGGCTC	0.418																																						uc001hop.3		NaN																	0					0						c.(892-894)CAT>TAT		WD repeat domain 26 isoform a							96.0	82.0	87.0					1																	224588738		2203	4300	6503	SO:0001583	missense	80232					cytoplasm|nucleus		g.chr1:224588738G>A	AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"""WD repeat domain containing"""	21208	protein-coding gene	gene with protein product	"""GID complex subunit 7 homolog (S. cerevisiae)"""						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.1333C>T	1.37:g.224588738G>A	ENSP00000408108:p.His445Tyr					WDR26_uc001hoq.3_Missense_Mutation_p.H282Y|WDR26_uc010pvh.1_Missense_Mutation_p.H5Y	p.H298Y	NM_025160	NP_079436	Q9H7D7	WDR26_HUMAN		GBM - Glioblastoma multiforme(131;0.0104)	9	1258	-			445			WD 3.		A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Missense_Mutation	SNP	ENST00000414423.2	37	c.892C>T	CCDS31037.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.66|14.66	2.600844|2.600844	0.46423|0.46423	.|.	.|.	ENSG00000162923|ENSG00000162923	ENST00000414423;ENST00000295024|ENST00000480676	T;T|T	0.81415|0.60424	-1.49;-1.49|0.19	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71204|0.71204	0.3312|0.3312	L|L	0.60012|0.60012	1.86|1.86	0.80722|0.80722	D|D	1|1	P|.	0.52842|.	0.956|.	P|.	0.49421|.	0.61|.	T|T	0.70332|0.70332	-0.4901|-0.4901	10|7	0.37606|0.54805	T|T	0.19|0.06	.|.	19.9534|19.9534	0.97211|0.97211	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	429|.	Q9H7D7-2|.	.|.	Y|L	445;298|78	ENSP00000408108:H445Y;ENSP00000295024:H298Y|ENSP00000424784:S78L	ENSP00000295024:H298Y|ENSP00000424784:S78L	H|S	-|-	1|2	0|0	WDR26|WDR26	222655361|222655361	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.789000|9.789000	0.99068|0.99068	2.725000|2.725000	0.93324|0.93324	0.586000|0.586000	0.80456|0.80456	CAT|TCA		0.418	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091760.2		NM_025160		9	55	0	0	0	0.008291	0	9	55		
TMEM63A	9725	broad.mit.edu	37	1	226053628	226053628	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:226053628C>T	ENST00000366835.3	-	10	985	c.715G>A	c.(715-717)Gcc>Acc	p.A239T	TMEM63A_ENST00000474478.1_5'UTR|TMEM63A_ENST00000537914.1_5'UTR	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	239					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					TCCTTCCTGGCATCTCTGGGG	0.627																																						uc001hpm.1		NaN																	0				ovary(1)|breast(1)	2						c.(715-717)GCC>ACC		transmembrane protein 63A							65.0	53.0	57.0					1																	226053628		2203	4300	6503	SO:0001583	missense	9725					integral to membrane|lysosomal membrane	nucleotide binding	g.chr1:226053628C>T		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.715G>A	1.37:g.226053628C>T	ENSP00000355800:p.Ala239Thr						p.A239T	NM_014698	NP_055513	O94886	TM63A_HUMAN			10	965	-	Breast(184;0.197)		239					Q53GI7|Q5TE96|Q8N2U2	Missense_Mutation	SNP	ENST00000366835.3	37	c.715G>A	CCDS31042.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.899833	0.33535	.	.	ENSG00000196187	ENST00000366835	T	0.40225	1.04	5.7	-0.16	0.13375	Nucleotide-binding, alpha-beta plait (1);	0.488004	0.25099	N	0.033158	T	0.23926	0.0579	N	0.17838	0.53	0.22412	N	0.999126	B	0.14438	0.01	B	0.20577	0.03	T	0.23440	-1.0188	10	0.16420	T	0.52	-14.5086	11.1907	0.48683	0.0:0.6066:0.0:0.3934	.	239	O94886	TM63A_HUMAN	T	239	ENSP00000355800:A239T	ENSP00000355800:A239T	A	-	1	0	TMEM63A	224120251	0.925000	0.31364	0.001000	0.08648	0.975000	0.68041	1.872000	0.39549	0.054000	0.16065	0.561000	0.74099	GCC		0.627	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2		NM_014698		14	36	0	0	0	0.010504	0	14	36		
OR13G1	441933	broad.mit.edu	37	1	247835472	247835472	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:247835472T>A	ENST00000359688.2	-	1	893	c.872A>T	c.(871-873)aAt>aTt	p.N291I	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CATCTCCCTATTCTGGAAGCT	0.448																																						uc001idi.1		NaN																	0				skin(1)	1						c.(871-873)AAT>ATT		olfactory receptor, family 13, subfamily G,							107.0	114.0	112.0					1																	247835472		2203	4300	6503	SO:0001583	missense	441933				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247835472T>A	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"""GPCR / Class A : Olfactory receptors"""	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.872A>T	1.37:g.247835472T>A	ENSP00000352717:p.Asn291Ile						p.N291I	NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	872	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		291			Cytoplasmic (Potential).		B2RN80|Q5T2T2|Q6IF86	Missense_Mutation	SNP	ENST00000359688.2	37	c.872A>T	CCDS31094.1	.	.	.	.	.	.	.	.	.	.	T	11.35	1.613325	0.28712	.	.	ENSG00000197437	ENST00000359688	T	0.48836	0.8	4.2	4.2	0.49525	.	0.000000	0.46145	D	0.000301	T	0.78483	0.4290	H	0.98178	4.165	0.30121	N	0.805705	D	0.89917	1.0	D	0.97110	1.0	T	0.80872	-0.1188	10	0.87932	D	0	-55.215	11.5555	0.50745	0.0:0.0:0.0:1.0	.	291	Q8NGZ3	O13G1_HUMAN	I	291	ENSP00000352717:N291I	ENSP00000352717:N291I	N	-	2	0	OR13G1	245902095	0.992000	0.36948	0.025000	0.17156	0.009000	0.06853	2.678000	0.46900	1.888000	0.54679	0.460000	0.39030	AAT		0.448	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1		NM_001005487		6	152	0	0	0	0.00308	0	6	152		
TRIM58	25893	broad.mit.edu	37	1	248039733	248039733	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:248039733A>G	ENST00000366481.3	+	6	1451	c.1403A>G	c.(1402-1404)aAt>aGt	p.N468S	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	468						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGGTCAGGAAATTGGGCATCC	0.448																																						uc001ido.2		NaN																	0				skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7						c.(1402-1404)AAT>AGT		tripartite motif-containing 58							94.0	89.0	91.0					1																	248039733		2203	4300	6503	SO:0001583	missense	25893					intracellular	zinc ion binding	g.chr1:248039733A>G	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.1403A>G	1.37:g.248039733A>G	ENSP00000355437:p.Asn468Ser					OR2W3_uc001idp.1_Intron	p.N468S	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		6	1451	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	468					Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	c.1403A>G	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	A	2.579	-0.297965	0.05532	.	.	ENSG00000162722	ENST00000366481	T	0.59772	0.24	3.63	-1.47	0.08772	.	0.334684	0.21745	N	0.069773	T	0.21022	0.0506	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.09618	-1.0666	10	0.13108	T	0.6	.	0.4006	0.00425	0.4163:0.1877:0.2144:0.1816	.	468	Q8NG06	TRI58_HUMAN	S	468	ENSP00000355437:N468S	ENSP00000355437:N468S	N	+	2	0	TRIM58	246106356	.	.	0.000000	0.03702	0.005000	0.04900	.	.	-0.287000	0.09064	0.528000	0.53228	AAT		0.448	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1		NM_015431		26	81	0	0	0	0.009535	0	26	81		
OR2T1	26696	broad.mit.edu	37	1	248570047	248570047	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:248570047T>C	ENST00000366474.1	+	1	752	c.752T>C	c.(751-753)gTg>gCg	p.V251A		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTGATGTATGTGTGCTGTGTT	0.507																																						uc010pzm.1		NaN																	0				pancreas(1)	1						c.(751-753)GTG>GCG		olfactory receptor, family 2, subfamily T,							260.0	220.0	234.0					1																	248570047		2203	4300	6503	SO:0001583	missense	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248570047T>C	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.752T>C	1.37:g.248570047T>C	ENSP00000355430:p.Val251Ala						p.V251A	NM_030904	NP_112166	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	752	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		251			Helical; Name=5; (Potential).		Q6IEZ9	Missense_Mutation	SNP	ENST00000366474.1	37	c.752T>C	CCDS31115.1	.	.	.	.	.	.	.	.	.	.	t	7.380	0.628619	0.14257	.	.	ENSG00000175143	ENST00000366474	T	0.00183	8.6	4.75	-0.175	0.13315	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33364	U	0.004988	T	0.00109	0.0003	L	0.31294	0.92	0.09310	N	1	B	0.13594	0.008	B	0.15484	0.013	T	0.23726	-1.0180	10	0.30078	T	0.28	.	8.9453	0.35756	0.0:0.4373:0.0:0.5627	.	251	O43869	OR2T1_HUMAN	A	251	ENSP00000355430:V251A	ENSP00000355430:V251A	V	+	2	0	OR2T1	246636670	0.000000	0.05858	0.643000	0.29450	0.614000	0.37383	-0.332000	0.07904	-0.192000	0.10432	-0.263000	0.10527	GTG		0.507	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2				26	89	0	0	0	0.007291	0	26	89		
SLC39A12	221074	broad.mit.edu	37	10	18289692	18289692	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:18289692C>T	ENST00000377369.2	+	11	1970	c.1697C>T	c.(1696-1698)tCa>tTa	p.S566L	SLC39A12_ENST00000539911.1_Missense_Mutation_p.S432L|SLC39A12-AS1_ENST00000439319.1_RNA|SLC39A12_ENST00000377371.3_Missense_Mutation_p.S565L|SLC39A12_ENST00000377374.4_Missense_Mutation_p.S529L|SLC39A12-AS1_ENST00000445287.1_RNA	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	566	Poly-Ser.				regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TTCTCATCATCATCCGAGTCA	0.443																																						uc001ipo.2		NaN																	0				ovary(1)|breast(1)	2						c.(1696-1698)TCA>TTA		solute carrier family 39 (zinc transporter),							153.0	130.0	138.0					10																	18289692		2203	4300	6503	SO:0001583	missense	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18289692C>T		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1697C>T	10.37:g.18289692C>T	ENSP00000366586:p.Ser566Leu					SLC39A12_uc001ipn.2_Missense_Mutation_p.S529L|SLC39A12_uc001ipp.2_Missense_Mutation_p.S565L|SLC39A12_uc010qck.1_Missense_Mutation_p.S432L	p.S566L	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN			11	1970	+			566			Poly-Ser.|Cytoplasmic (Potential).		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	c.1697C>T	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711592	0.68730	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.79370	0.4434	H	0.94345	3.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.994;0.999	D	0.84025	0.0356	10	0.87932	D	0	-15.0383	20.3668	0.98882	0.0:1.0:0.0:0.0	.	565;566;529	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	L	566;529;565;432;486	ENSP00000366586:S566L;ENSP00000366591:S529L;ENSP00000366588:S565L;ENSP00000440445:S432L	ENSP00000366586:S566L	S	+	2	0	SLC39A12	18329698	1.000000	0.71417	0.225000	0.23894	0.008000	0.06430	7.776000	0.85560	2.894000	0.99253	0.655000	0.94253	TCA		0.443	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_152725		5	75	0	0	0	0.000602	0	5	75		
KIAA1217	56243	broad.mit.edu	37	10	24822144	24822144	+	Missense_Mutation	SNP	A	A	G	rs369880903		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:24822144A>G	ENST00000376454.3	+	16	3422	c.3392A>G	c.(3391-3393)gAc>gGc	p.D1131G	KIAA1217_ENST00000307544.6_Missense_Mutation_p.D814G|KIAA1217_ENST00000376462.1_Missense_Mutation_p.D1051G|KIAA1217_ENST00000396445.1_Missense_Mutation_p.D814G|KIAA1217_ENST00000376452.3_Missense_Mutation_p.D1095G|KIAA1217_ENST00000376451.2_Missense_Mutation_p.D814G|KIAA1217_ENST00000458595.1_Missense_Mutation_p.D1096G|KIAA1217_ENST00000396446.1_Missense_Mutation_p.D814G	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1131					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GAAGAAGGAGACAAAATAATG	0.537																																						uc001iru.3		NaN																	0				ovary(5)|skin(2)	7						c.(3391-3393)GAC>GGC		sickle tail isoform 1							63.0	66.0	65.0					10																	24822144		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24822144A>G	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.3392A>G	10.37:g.24822144A>G	ENSP00000365637:p.Asp1131Gly					KIAA1217_uc001irs.2_Missense_Mutation_p.D1051G|KIAA1217_uc001irt.3_Missense_Mutation_p.D1096G|KIAA1217_uc010qcy.1_Missense_Mutation_p.D1095G|KIAA1217_uc010qcz.1_Missense_Mutation_p.D1096G|KIAA1217_uc001irw.2_Missense_Mutation_p.D814G|KIAA1217_uc001irz.2_Missense_Mutation_p.D814G|KIAA1217_uc001irx.2_Missense_Mutation_p.D814G|KIAA1217_uc001iry.2_Missense_Mutation_p.D814G	p.D1131G	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN			16	3795	+			1131					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.3392A>G	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.980224	0.74474	.	.	ENSG00000120549	ENST00000376462;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58	5.8	5.8	0.92144	.	0.291322	0.36854	N	0.002378	T	0.66655	0.2811	M	0.69823	2.125	0.44214	D	0.997042	D;D;D;P;D;D;D;P	0.61080	0.962;0.989;0.971;0.863;0.971;0.971;0.989;0.51	P;P;P;P;P;P;P;B	0.58820	0.597;0.754;0.783;0.496;0.641;0.641;0.846;0.273	T	0.70835	-0.4764	10	0.87932	D	0	.	12.0542	0.53524	0.8563:0.1437:0.0:0.0	.	1096;1095;814;814;814;814;1131;1131	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	G	1051;1096;814;1131;1095;814;814;814;814;814	ENSP00000365645:D1051G;ENSP00000392625:D1096G;ENSP00000365637:D1131G;ENSP00000365635:D1095G;ENSP00000302343:D814G;ENSP00000379722:D814G;ENSP00000365634:D814G;ENSP00000379723:D814G	ENSP00000302343:D814G	D	+	2	0	KIAA1217	24862150	1.000000	0.71417	1.000000	0.80357	0.664000	0.39144	5.517000	0.67061	2.226000	0.72624	0.459000	0.35465	GAC		0.537	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2		NM_019590		9	72	0	0	0	0.010729	0	9	72		
PTCHD3	374308	broad.mit.edu	37	10	27703135	27703135	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:27703135C>T	ENST00000438700.3	-	1	162	c.45G>A	c.(43-45)aaG>aaA	p.K15K		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	15					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TGAGCTTGGGCTTCTGCTCCG	0.642																																						uc001itu.2		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(43-45)AAG>AAA		patched domain containing 3							50.0	61.0	58.0					10																	27703135		2203	4299	6502	SO:0001819	synonymous_variant	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27703135C>T	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.45G>A	10.37:g.27703135C>T							p.K15K	NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN			1	163	-			15					I3L499|Q6ZU28	Silent	SNP	ENST00000438700.3	37	c.45G>A	CCDS31173.1																																																																																				0.642	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3		XM_370541		36	188	0	0	0	0.007835	0	36	188		
TMEM72	643236	broad.mit.edu	37	10	45430459	45430459	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:45430459C>T	ENST00000544540.1	+	4	835	c.351C>T	c.(349-351)ctC>ctT	p.L117L	RP11-285G1.9_ENST00000425541.2_lincRNA|TMEM72-AS1_ENST00000450287.2_RNA			A0PK05	TMM72_HUMAN	transmembrane protein 72	235						integral component of membrane (GO:0016021)				breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						TCCCCTCCCTCGCCGAAGGTC	0.602																																						uc001jbn.2		NaN																	0					0						c.(703-705)CTC>CTT		transmembrane protein 72							116.0	118.0	117.0					10																	45430459		1568	3582	5150	SO:0001819	synonymous_variant	643236					integral to membrane		g.chr10:45430459C>T	AB235418	CCDS41504.1	10q11.21	2008-10-24	2008-08-21	2008-08-21	ENSG00000187783	ENSG00000187783			31658	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 127"""	C10orf127			Standard	NM_001123376		Approved	bA285G1.3, KSP37	uc001jbn.2	A0PK05	OTTHUMG00000018067	ENST00000544540.1:c.351C>T	10.37:g.45430459C>T						uc001jbk.1_Intron|uc001jbl.2_Intron|TMEM72_uc009xmm.1_Silent_p.L117L	p.L235L	NM_001123376	NP_001116848	A0PK05	TMM72_HUMAN			5	902	+			235					A1L181|Q5T740	Silent	SNP	ENST00000544540.1	37	c.705C>T																																																																																					0.602	TMEM72-201	KNOWN	basic	protein_coding	protein_coding			NM_001123376		9	176	0	0	0	0.008291	0	9	176		
OGDHL	55753	broad.mit.edu	37	10	50957813	50957813	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:50957813T>A	ENST00000374103.4	-	8	1031	c.946A>T	c.(946-948)Atc>Ttc	p.I316F	OGDHL_ENST00000419399.1_Missense_Mutation_p.I259F|OGDHL_ENST00000432695.1_Missense_Mutation_p.I107F	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	316					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TGGCAGAAGATCTGCTCCAGG	0.662																																						uc001jie.2		NaN																	0				pancreas(1)	1						c.(946-948)ATC>TTC		oxoglutarate dehydrogenase-like isoform a							57.0	50.0	52.0					10																	50957813		2202	4299	6501	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50957813T>A	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.946A>T	10.37:g.50957813T>A	ENSP00000363216:p.Ile316Phe					OGDHL_uc009xog.2_Missense_Mutation_p.I343F|OGDHL_uc010qgt.1_Missense_Mutation_p.I259F|OGDHL_uc010qgu.1_Missense_Mutation_p.I107F|OGDHL_uc009xoh.2_Missense_Mutation_p.I107F	p.I316F	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN			8	1088	-			316					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.946A>T	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.813679	0.90790	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	D;D;D	0.96491	-4.03;-4.03;-4.03	5.3	5.3	0.74995	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.98710	0.9567	H	0.96301	3.8	0.80722	D	1	D;D;D	0.69078	0.996;0.989;0.997	D;D;D	0.76071	0.97;0.949;0.987	D	0.99744	1.1016	10	0.87932	D	0	.	15.2481	0.73521	0.0:0.0:0.0:1.0	.	259;107;316	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	F	316;259;107	ENSP00000363216:I316F;ENSP00000401356:I259F;ENSP00000390240:I107F	ENSP00000363216:I316F	I	-	1	0	OGDHL	50627819	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.984000	0.63838	2.015000	0.59207	0.533000	0.62120	ATC		0.662	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1		NM_018245		4	26	0	0	0	0.000602	0	4	26		
ARID5B	84159	broad.mit.edu	37	10	63850916	63850916	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:63850916C>T	ENST00000279873.7	+	10	2104	c.1694C>T	c.(1693-1695)aCc>aTc	p.T565I	ARID5B_ENST00000309334.5_Missense_Mutation_p.T322I	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	565					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CAGCCACTCACCTCTCCTAGT	0.562																																						uc001jlt.1		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4						c.(1693-1695)ACC>ATC		AT rich interactive domain 5B (MRF1-like)							60.0	61.0	61.0					10																	63850916		2203	4300	6503	SO:0001583	missense	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63850916C>T	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.1694C>T	10.37:g.63850916C>T	ENSP00000279873:p.Thr565Ile						p.T565I	NM_032199	NP_115575	Q14865	ARI5B_HUMAN			10	1720	+	Prostate(12;0.016)|all_hematologic(501;0.215)		565					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	c.1694C>T	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	C	8.599	0.886514	0.17540	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.47177	0.86;0.85	5.87	4.02	0.46733	.	1.021410	0.07728	N	0.944683	T	0.34019	0.0883	N	0.19112	0.55	0.29274	N	0.870496	B	0.12630	0.006	B	0.09377	0.004	T	0.27905	-1.0060	10	0.40728	T	0.16	-4.2894	8.2204	0.31539	0.0:0.7347:0.1298:0.1355	.	565	Q14865	ARI5B_HUMAN	I	565;322	ENSP00000279873:T565I;ENSP00000308862:T322I	ENSP00000279873:T565I	T	+	2	0	ARID5B	63520922	0.338000	0.24775	0.836000	0.33094	0.470000	0.32858	1.472000	0.35376	0.817000	0.34445	0.655000	0.94253	ACC		0.562	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1		XM_084482		14	62	0	0	0	0.004007	0	14	62		
EGR2	1959	broad.mit.edu	37	10	64573654	64573654	+	Silent	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:64573654G>C	ENST00000242480.3	-	2	1069	c.744C>G	c.(742-744)ccC>ccG	p.P248P	EGR2_ENST00000439032.1_Silent_p.P248P|EGR2_ENST00000493899.2_5'Flank|EGR2_ENST00000411732.1_Silent_p.P198P	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	248					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGCAGGGAAAGGGCTTACGGT	0.597																																						uc010qim.1		NaN																	0				ovary(2)	2						c.(742-744)CCC>CCG		early growth response 2 protein isoform a							62.0	63.0	63.0					10																	64573654		2203	4300	6503	SO:0001819	synonymous_variant	1959				fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr10:64573654G>C	BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"""Zinc fingers, C2H2-type"""	3239	protein-coding gene	gene with protein product	"""Krox-20 homolog, Drosophila"""	129010	"""early growth response 2 (Krox-20 homolog, Drosophila)"""	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.744C>G	10.37:g.64573654G>C						EGR2_uc010qin.1_Silent_p.P198P|EGR2_uc001jmi.2_Silent_p.P248P|EGR2_uc010qio.1_Silent_p.P261P|EGR2_uc009xph.2_Silent_p.P248P	p.P248P	NM_001136177	NP_001129649	P11161	EGR2_HUMAN			3	898	-	Prostate(12;0.0297)|all_hematologic(501;0.228)		248					B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Silent	SNP	ENST00000242480.3	37	c.744C>G	CCDS7267.1																																																																																				0.597	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2		NM_000399		16	95	0	0	0	0.007413	0	16	95		
EGR2	1959	broad.mit.edu	37	10	64575748	64575748	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:64575748G>A	ENST00000242480.3	-	1	367	c.42C>T	c.(40-42)ctC>ctT	p.L14L	EGR2_ENST00000439032.1_Silent_p.L14L|EGR2_ENST00000493899.2_Intron|EGR2_ENST00000411732.1_Intron	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	14					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					CAAAACCACTGAGAGTTACTG	0.572																																						uc010qim.1		NaN																	0				ovary(2)	2						c.(40-42)CTC>CTT		early growth response 2 protein isoform a							216.0	198.0	204.0					10																	64575748		2203	4300	6503	SO:0001819	synonymous_variant	1959				fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr10:64575748G>A	BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"""Zinc fingers, C2H2-type"""	3239	protein-coding gene	gene with protein product	"""Krox-20 homolog, Drosophila"""	129010	"""early growth response 2 (Krox-20 homolog, Drosophila)"""	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.42C>T	10.37:g.64575748G>A						EGR2_uc010qin.1_Intron|EGR2_uc001jmi.2_Silent_p.L14L|EGR2_uc010qio.1_Intron|EGR2_uc009xph.2_Silent_p.L14L	p.L14L	NM_001136177	NP_001129649	P11161	EGR2_HUMAN			2	196	-	Prostate(12;0.0297)|all_hematologic(501;0.228)		14					B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Silent	SNP	ENST00000242480.3	37	c.42C>T	CCDS7267.1																																																																																				0.572	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2		NM_000399		21	369	0	0	0	0.00632	0	21	369		
REEP3	221035	broad.mit.edu	37	10	65369972	65369972	+	Nonsense_Mutation	SNP	T	T	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:65369972T>G	ENST00000373758.4	+	6	626	c.443T>G	c.(442-444)tTa>tGa	p.L148*	REEP3_ENST00000298249.4_Nonsense_Mutation_p.L133*	NM_001001330.2	NP_001001330.1	Q6NUK4	REEP3_HUMAN	receptor accessory protein 3	148					mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|nuclear envelope organization (GO:0006998)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)				endometrium(1)|large_intestine(2)|lung(3)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					ACTGAACGTTTAAGAAGCTTC	0.353																																						uc001jmt.2		NaN																	0					0						c.(442-444)TTA>TGA		receptor accessory protein 3							91.0	83.0	85.0					10																	65369972		1860	4108	5968	SO:0001587	stop_gained	221035					integral to membrane		g.chr10:65369972T>G	BC057832	CCDS44411.1	10q21.3	2011-01-05	2006-02-07	2006-02-07	ENSG00000165476	ENSG00000165476		"""Receptor accessory proteins"""	23711	protein-coding gene	gene with protein product		609348	"""chromosome 10 open reading frame 74"""	C10orf74		16271481, 15550249	Standard	NM_001001330		Approved		uc001jmt.3	Q6NUK4	OTTHUMG00000018318	ENST00000373758.4:c.443T>G	10.37:g.65369972T>G	ENSP00000362863:p.Leu148*						p.L148*	NM_001001330	NP_001001330	Q6NUK4	REEP3_HUMAN			6	626	+	Prostate(12;0.0119)|all_hematologic(501;0.191)		148					Q5JQR5|Q5QGT2|Q6PEW8|Q6PJY4	Nonsense_Mutation	SNP	ENST00000373758.4	37	c.443T>G	CCDS44411.1	.	.	.	.	.	.	.	.	.	.	T	37	6.336421	0.97485	.	.	ENSG00000165476	ENST00000373758;ENST00000298249;ENST00000438249	.	.	.	6.03	6.03	0.97812	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0814	0.64925	0.0:0.0:0.0:1.0	.	.	.	.	X	148;133;150	.	ENSP00000298249:L133X	L	+	2	0	REEP3	65039978	1.000000	0.71417	0.983000	0.44433	0.986000	0.74619	5.533000	0.67160	2.308000	0.77769	0.533000	0.62120	TTA		0.353	REEP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001001330		3	10	0	0	0	0.004672	0	3	10		
DNA2	1763	broad.mit.edu	37	10	70182518	70182518	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:70182518G>A	ENST00000358410.3	-	15	2388	c.2338C>T	c.(2338-2340)Cgg>Tgg	p.R780W	DNA2_ENST00000399180.2_Missense_Mutation_p.R866W|DNA2_ENST00000399179.2_Intron	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	780	Helicase activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						ACAAATCTCCGTGAAAAAAAA	0.408																																						uc001jof.2		NaN																	0					0						c.(2596-2598)CGG>TGG		DNA replication helicase 2 homolog							31.0	32.0	31.0					10																	70182518		1799	4065	5864	SO:0001583	missense	1763				base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base	g.chr10:70182518G>A	D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.2338C>T	10.37:g.70182518G>A	ENSP00000351185:p.Arg780Trp					DNA2_uc001jog.1_Intron|DNA2_uc001joh.1_RNA	p.R866W	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN			15	2596	-			780					Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	ENST00000358410.3	37	c.2596C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.18|17.18	3.324739|3.324739	0.60634|0.60634	.|.	.|.	ENSG00000138346|ENSG00000138346	ENST00000399180;ENST00000358410|ENST00000440722	D;D|.	0.84146|.	-1.81;-1.81|.	5.66|5.66	1.06|1.06	0.20224|0.20224	.|.	0.922870|.	0.09284|.	N|.	0.823343|.	T|T	0.57607|0.57607	0.2065|0.2065	M|M	0.86178|0.86178	2.8|2.8	0.09310|0.09310	N|N	1|1	D|.	0.71674|.	0.998|.	P|.	0.53185|.	0.72|.	T|T	0.51228|0.51228	-0.8732|-0.8732	10|5	0.72032|.	D|.	0.01|.	.|.	5.6548|5.6548	0.17637|0.17637	0.0732:0.1049:0.4731:0.3489|0.0732:0.1049:0.4731:0.3489	.|.	780|.	P51530|.	DNA2L_HUMAN|.	W|M	866;780|101	ENSP00000382133:R866W;ENSP00000351185:R780W|.	ENSP00000351185:R780W|.	R|T	-|-	1|2	2|0	DNA2|DNA2	69852524|69852524	0.000000|0.000000	0.05858|0.05858	0.651000|0.651000	0.29564|0.29564	0.989000|0.989000	0.77384|0.77384	0.450000|0.450000	0.21762|0.21762	0.684000|0.684000	0.31448|0.31448	0.585000|0.585000	0.79938|0.79938	CGG|ACG		0.408	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2				8	22	0	0	0	0.00308	0	8	22		
SYNPO2L	79933	broad.mit.edu	37	10	75407279	75407279	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:75407279G>C	ENST00000394810.2	-	4	2280	c.2131C>G	c.(2131-2133)Ccc>Gcc	p.P711A	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.P487A	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	711	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GGGGTCTTGGGAGCCATTGGA	0.627																																						uc001jut.3		NaN																	0				ovary(1)	1						c.(2131-2133)CCC>GCC		synaptopodin 2-like isoform a							53.0	65.0	61.0					10																	75407279		2203	4300	6503	SO:0001583	missense	79933					cytoplasm|cytoskeleton	actin binding	g.chr10:75407279G>C	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.2131C>G	10.37:g.75407279G>C	ENSP00000378289:p.Pro711Ala					SYNPO2L_uc001jus.3_Missense_Mutation_p.P487A	p.P711A	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN			4	2283	-	Prostate(51;0.0112)		711			Pro-rich.		A5PKV9|Q68A20	Missense_Mutation	SNP	ENST00000394810.2	37	c.2131C>G	CCDS44438.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.530731	0.27387	.	.	ENSG00000166317	ENST00000372873;ENST00000394810	T;T	0.26518	1.73;1.88	5.16	3.3	0.37823	.	0.135150	0.34314	N	0.004064	T	0.23133	0.0559	L	0.54323	1.7	0.26371	N	0.976889	B;B	0.24920	0.07;0.114	B;B	0.24394	0.024;0.053	T	0.17592	-1.0364	10	0.52906	T	0.07	-5.0512	8.0632	0.30646	0.0837:0.0:0.758:0.1582	.	711;487	Q9H987;Q9H987-2	SYP2L_HUMAN;.	A	487;711	ENSP00000361964:P487A;ENSP00000378289:P711A	ENSP00000361964:P487A	P	-	1	0	SYNPO2L	75077285	0.782000	0.28689	0.949000	0.38748	0.401000	0.30781	0.879000	0.28146	0.745000	0.32763	-0.314000	0.08810	CCC		0.627	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2		NM_024875		31	133	0	0	0	0.006999	0	31	133		
GRID1	2894	broad.mit.edu	37	10	87362131	87362131	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:87362131G>A	ENST00000327946.7	-	16	3014	c.2929C>T	c.(2929-2931)Cgg>Tgg	p.R977W	GRID1_ENST00000552278.2_5'UTR|GRID1_ENST00000536331.1_Missense_Mutation_p.R548W	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	977					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						GGGCTCTGCCGGAACAGCCCC	0.667										Multiple Myeloma(13;0.14)																												uc001kdl.1		NaN																	0				ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10						c.(2929-2931)CGG>TGG		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						51.0	54.0	53.0					10																	87362131		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87362131G>A	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2929C>T	10.37:g.87362131G>A	ENSP00000330148:p.Arg977Trp	Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.R548W|uc001kdk.1_Intron	p.R977W	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			16	3030	-			977			Cytoplasmic (Potential).		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.2929C>T	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934970	0.92458	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.26660	1.98;1.72	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.50257	0.1605	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.45279	-0.9272	10	0.87932	D	0	.	19.1034	0.93283	0.0:0.0:1.0:0.0	.	977	Q9ULK0	GRID1_HUMAN	W	977;548	ENSP00000330148:R977W;ENSP00000444455:R548W	ENSP00000330148:R977W	R	-	1	2	GRID1	87352111	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.869000	0.99810	2.750000	0.94351	0.655000	0.94253	CGG		0.667	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3		XM_043613		21	96	0	0	0	0.003954	0	21	96		
NUP98	4928	broad.mit.edu	37	11	3746382	3746382	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:3746382C>T	ENST00000324932.7	-	15	2218	c.1798G>A	c.(1798-1800)Gat>Aat	p.D600N	NUP98_ENST00000359171.4_Missense_Mutation_p.D600N|NUP98_ENST00000397007.4_Missense_Mutation_p.D617N|NUP98_ENST00000397004.4_Missense_Mutation_p.D600N|NUP98_ENST00000355260.3_Missense_Mutation_p.D600N	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	617					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TTTTCTGAATCACGATTAACA	0.328			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	uc001lyh.2		NaN		Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11		AML		0				breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12						c.(1798-1800)GAT>AAT		nucleoporin 98kD isoform 1							90.0	91.0	90.0					11																	3746382		2200	4297	6497	SO:0001583	missense	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3746382C>T	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.1798G>A	11.37:g.3746382C>T	ENSP00000316032:p.Asp600Asn					NUP98_uc001lyi.2_Missense_Mutation_p.D600N|NUP98_uc001lyj.1_Missense_Mutation_p.D600N|NUP98_uc001lyk.1_Missense_Mutation_p.D617N	p.D600N	NM_016320	NP_057404	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	15	2089	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	617					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	c.1798G>A	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560331	0.65538	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007	.	.	.	5.59	4.68	0.58851	.	0.108034	0.64402	D	0.000006	T	0.59676	0.2211	L	0.34521	1.04	0.41310	D	0.987106	P;P;D;P	0.55385	0.868;0.493;0.971;0.948	P;B;P;P	0.57846	0.526;0.234;0.828;0.705	T	0.55939	-0.8061	9	0.23891	T	0.37	.	13.7668	0.62999	0.0:0.9257:0.0:0.0743	.	617;600;600;600	P52948-3;P52948-4;P52948-2;P52948-5	.;.;.;.	N	600;600;600;600;617	.	ENSP00000316032:D600N	D	-	1	0	NUP98	3702958	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	7.210000	0.77924	1.366000	0.46076	0.460000	0.39030	GAT		0.328	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3		NM_016320		7	57	0	0	0	0.00308	0	7	57		
OR52K2	119774	broad.mit.edu	37	11	4470668	4470668	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:4470668C>G	ENST00000325719.4	+	1	144	c.99C>G	c.(97-99)ttC>ttG	p.F33L	AC010930.1_ENST00000408103.1_RNA	NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCATCCCTTTCTGCTTAGCAT	0.517																																						uc001lyz.1		NaN																	0				skin(2)	2						c.(97-99)TTC>TTG		olfactory receptor, family 52, subfamily K,							165.0	143.0	151.0					11																	4470668		2201	4298	6499	SO:0001583	missense	119774				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4470668C>G	AB065791	CCDS31351.1	11p15.4	2012-08-09			ENSG00000181963	ENSG00000181963		"""GPCR / Class A : Olfactory receptors"""	15223	protein-coding gene	gene with protein product							Standard	NM_001005172		Approved		uc001lyz.2	Q8NGK3	OTTHUMG00000165703	ENST00000325719.4:c.99C>G	11.37:g.4470668C>G	ENSP00000318956:p.Phe33Leu						p.F33L	NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	99	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	33			Helical; Name=1; (Potential).		A8MUY8|B2RP35|Q6IFK4	Missense_Mutation	SNP	ENST00000325719.4	37	c.99C>G	CCDS31351.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.907429	0.33721	.	.	ENSG00000181963	ENST00000325719	T	0.00625	6.14	4.42	1.42	0.22433	.	0.133718	0.34338	N	0.004051	T	0.00784	0.0026	L	0.46614	1.455	0.32205	N	0.577359	B	0.11235	0.004	B	0.10450	0.005	T	0.17107	-1.0380	10	0.56958	D	0.05	.	9.1156	0.36755	0.0:0.7412:0.0:0.2588	.	33	Q8NGK3	O52K2_HUMAN	L	33	ENSP00000318956:F33L	ENSP00000318956:F33L	F	+	3	2	OR52K2	4427244	0.948000	0.32251	0.999000	0.59377	0.726000	0.41606	0.116000	0.15561	0.494000	0.27859	0.491000	0.48974	TTC		0.517	OR52K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385844.1		NM_001005172		18	112	0	0	0	0.010504	0	18	112		
TEAD1	7003	broad.mit.edu	37	11	12901332	12901332	+	Silent	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:12901332T>A	ENST00000526600.1	+	1	343	c.120T>A	c.(118-120)atT>atA	p.I40I	TEAD1_ENST00000527575.1_Silent_p.I136I|TEAD1_ENST00000361985.2_Silent_p.I136I|TEAD1_ENST00000334310.6_Silent_p.I125I|TEAD1_ENST00000361905.4_Silent_p.I121I|TEAD1_ENST00000527636.1_Silent_p.I136I			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	136					gene expression (GO:0010467)|hippo signaling (GO:0035329)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CCACTGCCATTCATAACAAGC	0.597																																						uc001mkj.3		NaN																	0					0						c.(361-363)ATT>ATA		TEA domain family member 1							74.0	66.0	68.0					11																	12901332		2200	4294	6494	SO:0001819	synonymous_variant	7003				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:12901332T>A	X84839	CCDS7810.1, CCDS7810.2	11p15.4	2008-11-12				ENSG00000187079			11714	protein-coding gene	gene with protein product		189967	"""atrophia areata, peripapillary chorioretinal degeneration"""	TCF13, AA		1851669, 9889009, 15016762	Standard	NM_021961		Approved	TEF-1	uc021qdx.1	P28347		ENST00000526600.1:c.120T>A	11.37:g.12901332T>A						TEAD1_uc001mkk.3_Silent_p.I40I|TEAD1_uc009ygl.2_Silent_p.I15I	p.I121I	NM_021961	NP_068780	P28347	TEAD1_HUMAN		Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)	6	1028	+			136					A4FUP2|E7EV65	Silent	SNP	ENST00000526600.1	37	c.363T>A																																																																																					0.597	TEAD1-007	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000387220.1		NM_021961		5	106	0	0	0	0.001168	0	5	106		
ACCSL	390110	broad.mit.edu	37	11	44075044	44075044	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:44075044A>C	ENST00000378832.1	+	8	1093	c.1037A>C	c.(1036-1038)gAa>gCa	p.E346A		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	346					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						AAATACCTGGAATTTGCCAAG	0.448																																						uc001mxw.1		NaN																	0				ovary(5)	5						c.(1036-1038)GAA>GCA		1-aminocyclopropane-1-carboxylate synthase							92.0	86.0	88.0					11																	44075044		1879	4104	5983	SO:0001583	missense	390110						1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44075044A>C		CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.1037A>C	11.37:g.44075044A>C	ENSP00000368109:p.Glu346Ala					ACCSL_uc009ykr.2_Missense_Mutation_p.E165A	p.E346A	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN			8	1093	+			346						Missense_Mutation	SNP	ENST00000378832.1	37	c.1037A>C	CCDS41636.1	.	.	.	.	.	.	.	.	.	.	A	6.741	0.505594	0.12822	.	.	ENSG00000205126	ENST00000378832	T	0.23950	1.88	4.45	-1.01	0.10169	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.378995	0.29444	N	0.012129	T	0.21267	0.0512	L	0.48877	1.53	0.32081	N	0.593081	B	0.26147	0.143	B	0.35353	0.201	T	0.17684	-1.0361	10	0.34782	T	0.22	-0.0019	6.9907	0.24753	0.4266:0.4265:0.0:0.1469	.	346	Q4AC99	1A1L2_HUMAN	A	346	ENSP00000368109:E346A	ENSP00000368109:E346A	E	+	2	0	ACCSL	44031620	1.000000	0.71417	0.957000	0.39632	0.023000	0.10783	2.435000	0.44811	-0.268000	0.09312	-1.243000	0.01532	GAA		0.448	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1		NM_001031854		8	63	0	0	0	0.008291	0	8	63		
DGKZ	8525	broad.mit.edu	37	11	46397494	46397494	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:46397494G>T	ENST00000454345.1	+	22	2693	c.2568G>T	c.(2566-2568)aaG>aaT	p.K856N	DGKZ_ENST00000421244.2_Missense_Mutation_p.K668N|MIR4688_ENST00000577966.1_RNA|DGKZ_ENST00000395574.3_Missense_Mutation_p.K634N|DGKZ_ENST00000343674.6_Missense_Mutation_p.K684N|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000527911.1_Missense_Mutation_p.K668N|DGKZ_ENST00000528615.1_Missense_Mutation_p.K446N|DGKZ_ENST00000318201.8_Missense_Mutation_p.K645N|DGKZ_ENST00000532868.2_Missense_Mutation_p.K672N|DGKZ_ENST00000456247.2_Missense_Mutation_p.K667N	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	856					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		AGCAGCTCAAGGAGGCCTGTG	0.687																																						uc001ncn.1		NaN																	0				pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(2566-2568)AAG>AAT		diacylglycerol kinase zeta isoform 4							19.0	19.0	19.0					11																	46397494		2197	4298	6495	SO:0001583	missense	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46397494G>T	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.2568G>T	11.37:g.46397494G>T	ENSP00000412178:p.Lys856Asn					DGKZ_uc001nch.1_Missense_Mutation_p.K684N|DGKZ_uc010rgq.1_Missense_Mutation_p.K611N|DGKZ_uc001ncj.1_Missense_Mutation_p.K634N|DGKZ_uc010rgr.1_Missense_Mutation_p.K633N|DGKZ_uc001nck.1_Missense_Mutation_p.K446N|DGKZ_uc001ncl.2_Missense_Mutation_p.K668N|DGKZ_uc001ncm.2_Missense_Mutation_p.K667N|DGKZ_uc009yky.1_Missense_Mutation_p.K668N|DGKZ_uc010rgs.1_Missense_Mutation_p.K645N	p.K856N	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	22	2693	+			856					B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	c.2568G>T	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921845	0.73213	.	.	ENSG00000149091	ENST00000343674;ENST00000528615;ENST00000395574;ENST00000532868;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345	T;T;T;T;T;T;T;T;T	0.28895	2.19;2.4;2.41;2.46;3.37;2.21;2.28;2.38;1.59	4.35	3.41	0.39046	.	0.207524	0.49305	D	0.000151	T	0.39145	0.1067	L	0.58810	1.83	0.58432	D	0.999997	P;P;P;P;D;P;P;P;P	0.54047	0.823;0.913;0.749;0.749;0.964;0.889;0.837;0.749;0.913	P;P;B;B;P;P;P;B;P	0.53450	0.536;0.536;0.334;0.412;0.67;0.726;0.617;0.412;0.536	T	0.23084	-1.0198	10	0.66056	D	0.02	.	8.134	0.31043	0.1911:0.0:0.8089:0.0	.	645;633;611;668;856;667;668;634;684	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZVG7	.;.;.;.;DGKZ_HUMAN;.;.;.;.	N	684;446;634;633;668;667;668;645;856	ENSP00000343065:K684N;ENSP00000434719:K446N;ENSP00000378941:K634N;ENSP00000436273:K633N;ENSP00000436291:K668N;ENSP00000395684:K667N;ENSP00000391021:K668N;ENSP00000320340:K645N;ENSP00000412178:K856N	ENSP00000320340:K645N	K	+	3	2	DGKZ	46354070	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.277000	0.43417	1.148000	0.42385	0.462000	0.41574	AAG		0.687	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1		NM_001105540		3	16	1	0	0.004672	0.004672	0.00475562	3	16		
OR8H2	390151	broad.mit.edu	37	11	55872742	55872742	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:55872742C>G	ENST00000313503.1	+	1	224	c.224C>G	c.(223-225)tCa>tGa	p.S75*		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CTCAGTTACTCAACTGTCGTC	0.438										HNSCC(53;0.14)																												uc010riy.1		NaN																	0				ovary(1)|skin(1)	2						c.(223-225)TCA>TGA		olfactory receptor, family 8, subfamily H,							238.0	236.0	236.0					11																	55872742		2201	4293	6494	SO:0001587	stop_gained	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872742C>G	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.224C>G	11.37:g.55872742C>G	ENSP00000323982:p.Ser75*	HNSCC(53;0.14)					p.S75*	NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN			1	224	+	Esophageal squamous(21;0.00693)		75			Helical; Name=2; (Potential).		Q6IFC1	Nonsense_Mutation	SNP	ENST00000313503.1	37	c.224C>G	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	c	14.59	2.579756	0.46006	.	.	ENSG00000181767	ENST00000313503	.	.	.	3.58	3.58	0.41010	.	0.000000	0.44097	D	0.000493	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.9529	0.52964	0.0:0.9081:0.0:0.0919	.	.	.	.	X	75	.	ENSP00000323982:S75X	S	+	2	0	OR8H2	55629318	0.000000	0.05858	0.803000	0.32268	0.680000	0.39746	1.053000	0.30442	1.952000	0.56665	0.440000	0.28878	TCA		0.438	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1		NM_001005200		22	485	0	0	0	0.004656	0	22	485		
OR8H2	390151	broad.mit.edu	37	11	55873336	55873336	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:55873336T>C	ENST00000313503.1	+	1	818	c.818T>C	c.(817-819)gTg>gCg	p.V273A		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					AGAGATCAAGTGGCTTCTGTT	0.373										HNSCC(53;0.14)																												uc010riy.1		NaN																	0				ovary(1)|skin(1)	2						c.(817-819)GTG>GCG		olfactory receptor, family 8, subfamily H,							82.0	87.0	85.0					11																	55873336		2201	4296	6497	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55873336T>C	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.818T>C	11.37:g.55873336T>C	ENSP00000323982:p.Val273Ala	HNSCC(53;0.14)					p.V273A	NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN			1	818	+	Esophageal squamous(21;0.00693)		273			Helical; Name=7; (Potential).		Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.818T>C	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	t	9.802	1.180870	0.21787	.	.	ENSG00000181767	ENST00000313503	T	0.00262	8.4	3.58	2.4	0.29515	GPCR, rhodopsin-like superfamily (1);	0.142465	0.32769	N	0.005674	T	0.00328	0.0010	L	0.49350	1.555	0.09310	N	0.999996	D	0.59357	0.985	D	0.64687	0.928	T	0.49908	-0.8889	10	0.72032	D	0.01	.	5.5535	0.17103	0.0:0.1477:0.1588:0.6936	.	273	Q8N162	OR8H2_HUMAN	A	273	ENSP00000323982:V273A	ENSP00000323982:V273A	V	+	2	0	OR8H2	55629912	0.000000	0.05858	0.983000	0.44433	0.081000	0.17604	0.040000	0.13905	0.509000	0.28195	-0.724000	0.03597	GTG		0.373	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1		NM_001005200		16	96	0	0	0	0.007413	0	16	96		
OR10Q1	219960	broad.mit.edu	37	11	57995840	57995840	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:57995840G>T	ENST00000316770.2	-	1	550	c.508C>A	c.(508-510)Ctg>Atg	p.L170M		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				CAAAAGGGCAGGGTGAAGATT	0.652																																						uc010rkd.1		NaN																	0				ovary(2)	2						c.(508-510)CTG>ATG		olfactory receptor, family 10, subfamily Q,							58.0	50.0	52.0					11																	57995840		2201	4295	6496	SO:0001583	missense	219960				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57995840G>T	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"""GPCR / Class A : Olfactory receptors"""	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.508C>A	11.37:g.57995840G>T	ENSP00000314324:p.Leu170Met						p.L170M	NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN			1	508	-		Breast(21;0.0589)	170			Extracellular (Potential).		Q6IFG4	Missense_Mutation	SNP	ENST00000316770.2	37	c.508C>A	CCDS31547.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.695914	0.48202	.	.	ENSG00000180475	ENST00000316770	T	0.00293	8.26	4.67	2.14	0.27477	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33438	N	0.004912	T	0.00608	0.0020	M	0.89968	3.075	0.22389	N	0.99915	D	0.71674	0.998	D	0.70935	0.971	T	0.44003	-0.9356	10	0.59425	D	0.04	.	4.8074	0.13326	0.2785:0.1626:0.5588:0.0	.	170	Q8NGQ4	O10Q1_HUMAN	M	170	ENSP00000314324:L170M	ENSP00000314324:L170M	L	-	1	2	OR10Q1	57752416	0.468000	0.25839	0.999000	0.59377	0.672000	0.39443	0.614000	0.24314	0.258000	0.21686	0.650000	0.86243	CTG		0.652	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1		NM_001004471		5	48	1	0	0.000602214	0.000602	0.000615747	5	48		
AHNAK	79026	broad.mit.edu	37	11	62291760	62291760	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:62291760C>G	ENST00000378024.4	-	5	10403	c.10129G>C	c.(10129-10131)Gat>Cat	p.D3377H	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3377					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATGTCAATATCTGGCTTTTTA	0.383																																						uc001ntl.2		NaN																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(10129-10131)GAT>CAT		AHNAK nucleoprotein isoform 1							64.0	65.0	65.0					11																	62291760		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62291760C>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.10129G>C	11.37:g.62291760C>G	ENSP00000367263:p.Asp3377His					AHNAK_uc001ntk.1_Intron	p.D3377H	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	10429	-		Melanoma(852;0.155)	3377					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.10129G>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	16.40	3.111579	0.56398	.	.	ENSG00000124942	ENST00000378024	T	0.01258	5.09	4.36	3.43	0.39272	.	.	.	.	.	T	0.13713	0.0332	H	0.95950	3.745	0.43317	D	0.995337	D	0.89917	1.0	D	0.87578	0.998	T	0.09335	-1.0679	9	0.62326	D	0.03	.	14.0648	0.64821	0.0:0.8472:0.1527:0.0	.	3377	Q09666	AHNK_HUMAN	H	3377	ENSP00000367263:D3377H	ENSP00000367263:D3377H	D	-	1	0	AHNAK	62048336	1.000000	0.71417	0.892000	0.35008	0.887000	0.51463	3.601000	0.54059	0.929000	0.37192	0.298000	0.19748	GAT		0.383	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1		NM_024060		8	95	0	0	0	0.006214	0	8	95		
AHNAK	79026	broad.mit.edu	37	11	62292043	62292043	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:62292043C>G	ENST00000378024.4	-	5	10120	c.9846G>C	c.(9844-9846)aaG>aaC	p.K3282N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3282					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGTCAGGCATCTTCAGTTTTG	0.428																																						uc001ntl.2		NaN																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(9844-9846)AAG>AAC		AHNAK nucleoprotein isoform 1							148.0	135.0	139.0					11																	62292043		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62292043C>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.9846G>C	11.37:g.62292043C>G	ENSP00000367263:p.Lys3282Asn					AHNAK_uc001ntk.1_Intron	p.K3282N	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	10146	-		Melanoma(852;0.155)	3282					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.9846G>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.538931	0.27475	.	.	ENSG00000124942	ENST00000378024	T	0.12147	2.71	4.21	2.28	0.28536	.	.	.	.	.	T	0.33614	0.0869	H	0.95365	3.66	0.31363	N	0.681151	P	0.51351	0.944	P	0.52031	0.688	T	0.44559	-0.9320	9	0.21540	T	0.41	.	7.3105	0.26471	0.0:0.7184:0.0:0.2816	.	3282	Q09666	AHNK_HUMAN	N	3282	ENSP00000367263:K3282N	ENSP00000367263:K3282N	K	-	3	2	AHNAK	62048619	0.589000	0.26807	0.979000	0.43373	0.865000	0.49528	-0.166000	0.09954	0.332000	0.23536	0.305000	0.20034	AAG		0.428	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1		NM_024060		6	121	0	0	0	0.006214	0	6	121		
AHNAK	79026	broad.mit.edu	37	11	62292768	62292768	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:62292768C>G	ENST00000378024.4	-	5	9395	c.9121G>C	c.(9121-9123)Gat>Cat	p.D3041H	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3041					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACATCCACATCTGGGCCCTCT	0.522																																						uc001ntl.2		NaN																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(9121-9123)GAT>CAT		AHNAK nucleoprotein isoform 1							172.0	181.0	178.0					11																	62292768		2202	4296	6498	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62292768C>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.9121G>C	11.37:g.62292768C>G	ENSP00000367263:p.Asp3041His					AHNAK_uc001ntk.1_Intron	p.D3041H	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	9421	-		Melanoma(852;0.155)	3041					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.9121G>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	17.25	3.340694	0.60963	.	.	ENSG00000124942	ENST00000378024	T	0.06142	3.34	4.27	4.27	0.50696	.	.	.	.	.	T	0.17023	0.0409	M	0.86178	2.8	0.49130	D	0.999758	P	0.47484	0.896	P	0.46110	0.504	T	0.08889	-1.0700	9	0.49607	T	0.09	.	16.3857	0.83503	0.0:1.0:0.0:0.0	.	3041	Q09666	AHNK_HUMAN	H	3041	ENSP00000367263:D3041H	ENSP00000367263:D3041H	D	-	1	0	AHNAK	62049344	0.941000	0.31946	0.985000	0.45067	0.859000	0.49053	2.141000	0.42168	1.930000	0.55929	0.291000	0.19559	GAT		0.522	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1		NM_024060		28	401	0	0	0	0.004289	0	28	401		
AHNAK	79026	broad.mit.edu	37	11	62292797	62292797	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:62292797C>G	ENST00000378024.4	-	5	9366	c.9092G>C	c.(9091-9093)aGc>aCc	p.S3031T	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3031					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCCAGGCATGCTGAATTTGGG	0.532																																						uc001ntl.2		NaN																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(9091-9093)AGC>ACC		AHNAK nucleoprotein isoform 1							196.0	204.0	201.0					11																	62292797		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62292797C>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.9092G>C	11.37:g.62292797C>G	ENSP00000367263:p.Ser3031Thr					AHNAK_uc001ntk.1_Intron	p.S3031T	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	9392	-		Melanoma(852;0.155)	3031					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.9092G>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	12.79	2.043472	0.36085	.	.	ENSG00000124942	ENST00000378024	T	0.00892	5.57	3.97	3.03	0.35002	.	.	.	.	.	T	0.01905	0.0060	M	0.88181	2.935	0.23994	N	0.996237	P	0.36010	0.532	B	0.32928	0.155	T	0.36890	-0.9729	9	0.18276	T	0.48	.	8.9864	0.35997	0.0:0.8855:0.0:0.1145	.	3031	Q09666	AHNK_HUMAN	T	3031	ENSP00000367263:S3031T	ENSP00000367263:S3031T	S	-	2	0	AHNAK	62049373	0.001000	0.12720	1.000000	0.80357	0.713000	0.41058	0.737000	0.26144	1.930000	0.55929	0.291000	0.19559	AGC		0.532	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1		NM_024060		30	424	0	0	0	0.005524	0	30	424		
AHNAK	79026	broad.mit.edu	37	11	62294178	62294178	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:62294178C>G	ENST00000378024.4	-	5	7985	c.7711G>C	c.(7711-7713)Gag>Cag	p.E2571Q	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2571					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATGTTCATCTCTGGCATCTTT	0.473																																						uc001ntl.2		NaN																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(7711-7713)GAG>CAG		AHNAK nucleoprotein isoform 1							196.0	198.0	197.0					11																	62294178		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62294178C>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.7711G>C	11.37:g.62294178C>G	ENSP00000367263:p.Glu2571Gln					AHNAK_uc001ntk.1_Intron	p.E2571Q	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	8011	-		Melanoma(852;0.155)	2571					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.7711G>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	11.33	1.608257	0.28623	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.03035	4.07	4.31	4.31	0.51392	.	.	.	.	.	T	0.11879	0.0289	M	0.82517	2.595	0.09310	N	1	P	0.51653	0.947	P	0.49799	0.622	T	0.06954	-1.0798	9	0.54805	T	0.06	-22.6597	11.6537	0.51304	0.1778:0.8222:0.0:0.0	.	2571	Q09666	AHNK_HUMAN	Q	660;2571	ENSP00000367263:E2571Q	ENSP00000244934:E660Q	E	-	1	0	AHNAK	62050754	0.395000	0.25254	0.995000	0.50966	0.954000	0.61252	1.762000	0.38451	1.950000	0.56595	0.479000	0.44913	GAG		0.473	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1		NM_024060		19	260	0	0	0	0.00333	0	19	260		
METTL12	751071	broad.mit.edu	37	11	62434192	62434192	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:62434192C>T	ENST00000532971.1	+	3	649	c.392C>T	c.(391-393)cCt>cTt	p.P131L	C11orf48_ENST00000525675.1_5'Flank|SNORA57_ENST00000383870.1_RNA|RP11-831H9.11_ENST00000528405.1_5'Flank|C11orf48_ENST00000354588.3_Intron|C11orf48_ENST00000524958.1_5'Flank|C11orf48_ENST00000532208.1_Intron|C11orf48_ENST00000431002.2_Intron|METTL12_ENST00000398922.2_3'UTR	NM_001043229.1	NP_001036694.1	A8MUP2	MET12_HUMAN	methyltransferase like 12	131						mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						CCTCTATGCCCTGGACACCCT	0.597																																						uc001nug.1		NaN																	0					0						c.(391-393)CCT>CTT		methyltransferase like 12 precursor							40.0	44.0	43.0					11																	62434192		1989	4165	6154	SO:0001583	missense	751071					mitochondrion	methyltransferase activity	g.chr11:62434192C>T	BC041359	CCDS41657.1	11q12.3	2013-09-30			ENSG00000214756	ENSG00000214756			33113	protein-coding gene	gene with protein product							Standard	NM_001043229		Approved	U99HG	uc001nuh.3	A8MUP2	OTTHUMG00000167545	ENST00000532971.1:c.392C>T	11.37:g.62434192C>T	ENSP00000431287:p.Pro131Leu					C11orf48_uc001nue.2_Intron|C11orf48_uc001nuf.2_Intron|METTL12_uc001nuh.2_3'UTR|METTL12_uc010rmc.1_RNA	p.P131L	NM_001043229	NP_001036694	A8MUP2	MTL12_HUMAN			3	651	+			131					B7Z4C1	Missense_Mutation	SNP	ENST00000532971.1	37	c.392C>T	CCDS41657.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333613	0.60853	.	.	ENSG00000214756	ENST00000532971	T	0.20738	2.05	4.49	3.57	0.40892	Methyltransferase type 11 (1);	0.000000	0.53938	U	0.000048	T	0.37348	0.1000	L	0.58583	1.82	0.52099	D	0.999945	D	0.76494	0.999	D	0.70935	0.971	T	0.08554	-1.0716	10	0.21014	T	0.42	-16.6297	12.4784	0.55827	0.0:0.8298:0.1702:0.0	.	131	A8MUP2	MTL12_HUMAN	L	131	ENSP00000431287:P131L	ENSP00000431287:P131L	P	+	2	0	METTL12	62190768	0.788000	0.28762	0.672000	0.29872	0.366000	0.29705	3.408000	0.52651	1.232000	0.43678	0.650000	0.86243	CCT		0.597	METTL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394990.1		NM_001043229		11	61	0	0	0	0.008291	0	11	61		
ZBTB3	79842	broad.mit.edu	37	11	62521022	62521022	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:62521022G>C	ENST00000394807.3	-	2	390	c.265C>G	c.(265-267)Cgg>Ggg	p.R89G		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	89	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R89G(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						AGCACAGCCCGATGGGCCAAG	0.557																																						uc001nuz.2		NaN																	1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(265-267)CGG>GGG		zinc finger and BTB domain containing 3							44.0	44.0	44.0					11																	62521022		2202	4299	6501	SO:0001583	missense	79842				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:62521022G>C	AK027045	CCDS8034.1	11q12.3	2013-01-09				ENSG00000185670		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	22918	protein-coding gene	gene with protein product							Standard	NM_024784		Approved	FLJ23392	uc001nuz.3	Q9H5J0		ENST00000394807.3:c.265C>G	11.37:g.62521022G>C	ENSP00000378286:p.Arg89Gly						p.R89G	NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN			2	387	-			89			BTB.			Missense_Mutation	SNP	ENST00000394807.3	37	c.265C>G	CCDS8034.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429782	0.62844	.	.	ENSG00000185670	ENST00000394807;ENST00000527994	T;T	0.75367	-0.93;-0.93	5.85	2.92	0.33932	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.058923	0.64402	D	0.000004	D	0.91185	0.7223	H	0.98769	4.325	0.41237	D	0.986613	D	0.89917	1.0	D	0.79108	0.992	D	0.93096	0.6504	10	0.87932	D	0	.	13.6519	0.62316	0.0:0.0:0.5984:0.4016	.	89	Q9H5J0	ZBTB3_HUMAN	G	89;39	ENSP00000378286:R89G;ENSP00000432731:R39G	ENSP00000378286:R89G	R	-	1	2	ZBTB3	62277598	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	1.180000	0.32005	0.351000	0.24027	0.561000	0.74099	CGG		0.557	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395342.1		NM_024784		4	26	0	0	0	0.009096	0	4	26		
SLC29A2	3177	broad.mit.edu	37	11	66133943	66133943	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:66133943G>C	ENST00000357440.2	-	8	1054	c.826C>G	c.(826-828)Cag>Gag	p.Q276E	SLC29A2_ENST00000544554.1_Missense_Mutation_p.Q276E|SLC29A2_ENST00000311161.7_Intron|SLC29A2_ENST00000546034.1_Missense_Mutation_p.Q276E	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	276					cell proliferation (GO:0008283)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10					Didanosine(DB00900)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Zalcitabine(DB00943)|Zidovudine(DB00495)	CCTGGCTTCTGGGGCTCATCT	0.537																																						uc001oht.2		NaN																	0				ovary(1)	1						c.(826-828)CAG>GAG		solute carrier family 29 (nucleoside							72.0	64.0	67.0					11																	66133943		2200	4295	6495	SO:0001583	missense	3177				cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity	g.chr11:66133943G>C	X86681	CCDS8137.1, CCDS73326.1	11q13	2013-07-17	2013-07-17		ENSG00000174669	ENSG00000174669		"""Solute carriers"""	11004	protein-coding gene	gene with protein product		602110	"""solute carrier family 29 (nucleoside transporters), member 2"""	ENT2, HNP36		9192854, 9478986	Standard	NM_001532		Approved	DER12	uc001oht.3	Q14542	OTTHUMG00000169056	ENST00000357440.2:c.826C>G	11.37:g.66133943G>C	ENSP00000350024:p.Gln276Glu					SLC29A2_uc001ohs.2_Missense_Mutation_p.Q156E|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_Missense_Mutation_p.Q156E|SLC29A2_uc001ohu.2_Missense_Mutation_p.Q276E|SLC29A2_uc001ohv.2_Intron|uc001ohw.1_5'Flank	p.Q276E	NM_001532	NP_001523	Q14542	S29A2_HUMAN			8	1055	-			276					B3KPY7|O43530|Q52M84|Q96R00|Q9UPE0	Missense_Mutation	SNP	ENST00000357440.2	37	c.826C>G	CCDS8137.1	.	.	.	.	.	.	.	.	.	.	G	0.082	-1.182547	0.01620	.	.	ENSG00000174669	ENST00000357440;ENST00000544554;ENST00000546034	T;T;T	0.62941	-0.01;-0.01;-0.01	4.43	4.43	0.53597	.	0.888402	0.09834	N	0.749815	T	0.39963	0.1098	N	0.10916	0.065	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.05419	-1.0886	10	0.02654	T	1	-2.2101	12.7765	0.57451	0.0:0.0:1.0:0.0	.	276	Q14542	S29A2_HUMAN	E	276	ENSP00000350024:Q276E;ENSP00000439456:Q276E;ENSP00000440329:Q276E	ENSP00000350024:Q276E	Q	-	1	0	SLC29A2	65890519	0.465000	0.25815	0.681000	0.30009	0.043000	0.13939	2.002000	0.40835	2.464000	0.83262	0.551000	0.68910	CAG		0.537	SLC29A2-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402093.1		NM_001532		10	56	0	0	0	0.010729	0	10	56		
C11orf80	79703	broad.mit.edu	37	11	66571581	66571581	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:66571581C>A	ENST00000360962.4	+	9	965	c.958C>A	c.(958-960)Ctg>Atg	p.L320M	C11orf80_ENST00000532565.2_Missense_Mutation_p.L101M|C11orf80_ENST00000540737.1_Missense_Mutation_p.L155M|C11orf80_ENST00000527634.1_Missense_Mutation_p.L102M|C11orf80_ENST00000525449.2_Missense_Mutation_p.L165M|C11orf80_ENST00000346672.4_Missense_Mutation_p.L166M	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	320										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						GTTGGGAGAACTGATACTGAC	0.463																																						uc001ojf.2		NaN																	0					0						c.(958-960)CTG>ATG		hypothetical protein LOC79703							125.0	126.0	126.0					11																	66571581		2121	4238	6359	SO:0001583	missense	79703							g.chr11:66571581C>A			11q13.2	2012-05-30			ENSG00000173715	ENSG00000173715			26197	protein-coding gene	gene with protein product						18160775	Standard	NM_024650		Approved	FLJ22531	uc021qmd.1	Q8N6T0	OTTHUMG00000167164	ENST00000360962.4:c.958C>A	11.37:g.66571581C>A	ENSP00000354227:p.Leu320Met					C11orf80_uc001ojg.2_Missense_Mutation_p.L86M|C11orf80_uc001ojh.2_Missense_Mutation_p.L87M|C11orf80_uc001oji.2_Missense_Mutation_p.L87M|C11orf80_uc010rpk.1_Missense_Mutation_p.L155M	p.L320M	NM_024650	NP_078926	Q8N6T0	CK080_HUMAN			9	965	+			165					Q9H677	Missense_Mutation	SNP	ENST00000360962.4	37	c.958C>A	CCDS53664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.16|13.16	2.153822|2.153822	0.38021|0.38021	.|.	.|.	ENSG00000173715|ENSG00000173715	ENST00000524551;ENST00000525908;ENST00000360962;ENST00000346672;ENST00000527634;ENST00000528340;ENST00000540737;ENST00000525449|ENST00000532089	T;T|.	0.54675|.	0.56;0.89|.	5.66|5.66	3.78|3.78	0.43462|0.43462	.|.	0.000000|.	0.44285|.	D|.	0.000466|.	T|T	0.34919|0.34919	0.0914|0.0914	L|L	0.32530|0.32530	0.975|0.975	0.26749|0.26749	N|N	0.970245|0.970245	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.999;0.999|.	T|T	0.19516|0.19516	-1.0303|-1.0303	10|5	0.33141|.	T|.	0.24|.	-10.317|-10.317	9.1658|9.1658	0.37050|0.37050	0.0:0.83:0.0:0.17|0.0:0.83:0.0:0.17	.|.	102;165;155|.	E9PKM2;Q8N6T0;E9PKZ8|.	.;CK080_HUMAN;.|.	M|K	102;271;320;166;102;155;155;165|122	ENSP00000432039:L271M;ENSP00000354227:L320M|.	ENSP00000317408:L166M|.	L|N	+|+	1|3	2|2	C11orf80|C11orf80	66328157|66328157	1.000000|1.000000	0.71417|0.71417	0.960000|0.960000	0.40013|0.40013	0.390000|0.390000	0.30446|0.30446	1.807000|1.807000	0.38902|0.38902	0.750000|0.750000	0.32877|0.32877	0.555000|0.555000	0.69702|0.69702	CTG|AAC		0.463	C11orf80-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_024650		41	156	1	0	1.59361e-14	0.006999	1.76421e-14	41	156		
CLPB	81570	broad.mit.edu	37	11	72069953	72069953	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:72069953T>C	ENST00000294053.3	-	6	1009	c.836A>G	c.(835-837)tAc>tGc	p.Y279C	CLPB_ENST00000543042.1_Missense_Mutation_p.Y78C|CLPB_ENST00000437826.2_Missense_Mutation_p.Y234C|CLPB_ENST00000340729.5_Missense_Mutation_p.Y220C|CLPB_ENST00000445069.2_Missense_Mutation_p.Y175C|RP11-45F15.2_ENST00000537727.1_RNA|CLPB_ENST00000538039.1_Missense_Mutation_p.Y249C	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	279					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						GACAGTGCGGTAGTCATCAGC	0.602																																						uc001osj.2		NaN																	0				pancreas(1)	1						c.(835-837)TAC>TGC		caseinolytic peptidase B							171.0	127.0	142.0					11																	72069953		2200	4293	6493	SO:0001583	missense	81570				cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr11:72069953T>C	BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"""Ankyrin repeat domain containing"""	30664	protein-coding gene	gene with protein product	"""suppressor of potassium transport defect 3"""					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.836A>G	11.37:g.72069953T>C	ENSP00000294053:p.Tyr279Cys					CLPB_uc010rqx.1_Missense_Mutation_p.Y234C|CLPB_uc010rqy.1_Missense_Mutation_p.Y220C|CLPB_uc001osk.2_Missense_Mutation_p.Y249C|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_Missense_Mutation_p.Y78C	p.Y279C	NM_030813	NP_110440	Q9H078	CLPB_HUMAN			6	886	-			279			ANK 3.		B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Missense_Mutation	SNP	ENST00000294053.3	37	c.836A>G	CCDS8215.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.27|10.27	1.304086|1.304086	0.23736|0.23736	.|.	.|.	ENSG00000162129|ENSG00000162129	ENST00000544382|ENST00000294053;ENST00000538039;ENST00000535990;ENST00000340729;ENST00000437826;ENST00000543042;ENST00000544683;ENST00000539148	.|T;T;T;T;T;T;T;T	.|0.65178	.|-0.14;-0.11;-0.14;-0.11;-0.14;0.6;-0.11;-0.14	4.36|4.36	3.19|3.19	0.36642|0.36642	.|Ankyrin repeat-containing domain (3);	.|0.369655	.|0.25578	.|N	.|0.029718	T|T	0.44993|0.44993	0.1320|0.1320	N|N	0.21617|0.21617	0.685|0.685	0.35642|0.35642	D|D	0.811068|0.811068	.|B;B;B;B;B	.|0.31077	.|0.015;0.104;0.064;0.104;0.307	.|B;B;B;B;B	.|0.31191	.|0.013;0.071;0.046;0.04;0.125	T|T	0.52852|0.52852	-0.8520|-0.8520	5|10	.|0.52906	.|T	.|0.07	-13.6082|-13.6082	8.4981|8.4981	0.33141|0.33141	0.1737:0.0:0.0:0.8263|0.1737:0.0:0.0:0.8263	.|.	.|78;220;234;249;279	.|B4DXW4;F8W7P6;E7EWN6;Q9H078-2;Q9H078	.|.;.;.;.;CLPB_HUMAN	A|C	57|279;249;284;220;234;78;103;133	.|ENSP00000294053:Y279C;ENSP00000441518:Y249C;ENSP00000443822:Y284C;ENSP00000340385:Y220C;ENSP00000407296:Y234C;ENSP00000439746:Y78C;ENSP00000442651:Y103C;ENSP00000445327:Y133C	.|ENSP00000294053:Y279C	T|Y	-|-	1|2	0|0	CLPB|CLPB	71747601|71747601	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	1.993000|1.993000	0.40747|0.40747	0.783000|0.783000	0.33636|0.33636	0.519000|0.519000	0.50382|0.50382	ACC|TAC		0.602	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1		NM_030813		11	143	0	0	0	0.003163	0	11	143		
CHRDL2	25884	broad.mit.edu	37	11	74422031	74422031	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:74422031G>C	ENST00000376332.3	-	4	791	c.295C>G	c.(295-297)Cac>Gac	p.H99D	CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Missense_Mutation_p.H99D	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	99					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					GAGGGAGTGTGAGGTTCTGCA	0.517																																						uc001ovi.2		NaN																	0					0						c.(295-297)CAC>GAC		RecName: Full=Chordin-like protein 2; AltName: Full=Chordin-related protein 2; AltName: Full=Breast tumor novel factor 1;          Short=BNF-1; Flags: Precursor;							91.0	90.0	90.0					11																	74422031		2200	4293	6493	SO:0001583	missense	25884				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion		g.chr11:74422031G>C	AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.295C>G	11.37:g.74422031G>C	ENSP00000365510:p.His99Asp					CHRDL2_uc001ovg.2_5'UTR|CHRDL2_uc001ovh.2_Missense_Mutation_p.H99D|CHRDL2_uc001ovk.1_Missense_Mutation_p.H99D	p.H99D			Q6WN34	CRDL2_HUMAN			4	548	-	Hepatocellular(1;0.098)		99					A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Missense_Mutation	SNP	ENST00000376332.3	37	c.295C>G		.	.	.	.	.	.	.	.	.	.	G	11.79	1.744694	0.30865	.	.	ENSG00000054938	ENST00000263671;ENST00000376332;ENST00000528789	T;T;T	0.41758	0.99;1.01;1.61	5.05	5.05	0.67936	.	0.219434	0.40385	N	0.001106	T	0.36963	0.0986	L	0.36672	1.1	0.36977	D	0.894122	P;P;P	0.49253	0.895;0.722;0.921	P;B;B	0.47044	0.535;0.164;0.359	T	0.17018	-1.0383	10	0.10902	T	0.67	-15.2561	13.7872	0.63117	0.0:0.0:1.0:0.0	.	99;99;99	E9PCG7;Q6WN34;Q6WN34-2	.;CRDL2_HUMAN;.	D	99	ENSP00000263671:H99D;ENSP00000365510:H99D;ENSP00000431380:H99D	ENSP00000263671:H99D	H	-	1	0	CHRDL2	74099679	0.861000	0.29849	0.991000	0.47740	0.378000	0.30076	2.469000	0.45110	2.636000	0.89361	0.655000	0.94253	CAC		0.517	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1				7	54	0	0	0	0.006214	0	7	54		
SESN3	143686	broad.mit.edu	37	11	94910950	94910950	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:94910950C>T	ENST00000536441.1	-	8	1516	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K	RP11-712B9.2_ENST00000534864.1_RNA|RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000278499.2_Missense_Mutation_p.E255K	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	394					glucose homeostasis (GO:0042593)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)|response to insulin (GO:0032868)	nucleus (GO:0005634)				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		TCAACATCCTCATGGGTGGCC	0.388																																						uc001pfk.1		NaN																	0					0						c.(1180-1182)GAG>AAG		sestrin 3							127.0	115.0	119.0					11																	94910950		2201	4298	6499	SO:0001583	missense	143686				cell cycle arrest	nucleus		g.chr11:94910950C>T	AK096300	CCDS8303.1, CCDS60938.1	11q21	2005-09-18			ENSG00000149212	ENSG00000149212			23060	protein-coding gene	gene with protein product		607768				12607115	Standard	NM_144665		Approved	SEST3, MGC29667	uc001pfj.4	P58005	OTTHUMG00000167829	ENST00000536441.1:c.1180G>A	11.37:g.94910950C>T	ENSP00000441927:p.Glu394Lys					SESN3_uc010rug.1_Missense_Mutation_p.E255K	p.E394K	NM_144665	NP_653266	P58005	SESN3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.234)	8	1402	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	394					B7Z7P9|Q96AD1	Missense_Mutation	SNP	ENST00000536441.1	37	c.1180G>A	CCDS8303.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.246499	0.39697	.	.	ENSG00000149212	ENST00000536441;ENST00000278499	T;T	0.21191	2.02;2.02	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.08802	0.0218	N	0.01874	-0.695	0.80722	D	1	B;B	0.24920	0.114;0.043	B;B	0.19666	0.026;0.026	T	0.20739	-1.0266	10	0.02654	T	1	-0.6665	19.8045	0.96525	0.0:1.0:0.0:0.0	.	255;394	B7Z7P9;P58005	.;SESN3_HUMAN	K	394;255	ENSP00000441927:E394K;ENSP00000278499:E255K	ENSP00000278499:E255K	E	-	1	0	SESN3	94550598	0.998000	0.40836	0.970000	0.41538	0.990000	0.78478	3.367000	0.52350	2.676000	0.91093	0.655000	0.94253	GAG		0.388	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396475.3		NM_144665		11	84	0	0	0	0.013537	0	11	84		
YAP1	10413	broad.mit.edu	37	11	102100657	102100657	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:102100657C>T	ENST00000282441.5	+	9	1889	c.1501C>T	c.(1501-1503)Ctt>Ttt	p.L501F	YAP1_ENST00000528834.1_3'UTR|YAP1_ENST00000526343.1_Missense_Mutation_p.L447F|YAP1_ENST00000345877.2_Missense_Mutation_p.L451F|RP11-864G5.3_ENST00000526310.1_RNA|YAP1_ENST00000537274.1_Missense_Mutation_p.L489F|YAP1_ENST00000531439.1_Missense_Mutation_p.L485F|YAP1_ENST00000524575.1_Missense_Mutation_p.L323F	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	501	Transactivation domain.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|contact inhibition (GO:0060242)|embryonic heart tube morphogenesis (GO:0003143)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|keratinocyte differentiation (GO:0030216)|lateral mesoderm development (GO:0048368)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|notochord development (GO:0030903)|paraxial mesoderm development (GO:0048339)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of keratinocyte proliferation (GO:0010837)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of stem cell proliferation (GO:0072091)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		AGAAAGCTTTCTTACATGGTT	0.438																																					Colon(50;247 1103 7861 28956)	uc001pgt.2		NaN																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1501-1503)CTT>TTT		Yes-associated protein 1, 65kDa isoform 1							102.0	108.0	106.0					11																	102100657		2203	4299	6502	SO:0001583	missense	10413				cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr11:102100657C>T		CCDS8314.1, CCDS44716.1, CCDS8314.2, CCDS53699.1, CCDS53700.1, CCDS60944.1, CCDS73373.1, CCDS73374.1	11q13	2010-03-19	2010-03-19		ENSG00000137693	ENSG00000137693			16262	protein-coding gene	gene with protein product		606608	"""Yes-associated protein 1, 65kDa"""			7782338	Standard	NM_001130145		Approved	YAP65	uc001pgt.3	P46937	OTTHUMG00000167322	ENST00000282441.5:c.1501C>T	11.37:g.102100657C>T	ENSP00000282441:p.Leu501Phe					YAP1_uc001pgs.2_Missense_Mutation_p.L451F|YAP1_uc001pgu.2_Missense_Mutation_p.L485F|YAP1_uc001pgv.2_Missense_Mutation_p.L447F|YAP1_uc010ruo.1_Missense_Mutation_p.L323F|YAP1_uc001pgw.2_Missense_Mutation_p.L325F|YAP1_uc010rup.1_Missense_Mutation_p.L266F	p.L501F	NM_001130145	NP_001123617	P46937	YAP1_HUMAN	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)	9	1871	+	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	501			Transactivation domain.		B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Missense_Mutation	SNP	ENST00000282441.5	37	c.1501C>T	CCDS44716.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.868909	0.91587	.	.	ENSG00000137693	ENST00000526343;ENST00000282441;ENST00000537274;ENST00000345877;ENST00000445250;ENST00000531439;ENST00000524575	T;T;T	0.65732	-0.17;-0.16;-0.1	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.70613	0.3244	N	0.19112	0.55	0.80722	D	1	D;D;D;D;D;D	0.89917	0.995;1.0;0.999;1.0;0.999;1.0	D;D;D;D;D;D	0.85130	0.979;0.977;0.994;0.997;0.995;0.997	T	0.73157	-0.4071	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	323;418;447;485;501;451	B4DTY1;F5GWC5;E9PRV2;P46937-2;P46937;P46937-3	.;.;.;.;YAP1_HUMAN;.	F	447;501;489;451;418;485;323	ENSP00000434134:L447F;ENSP00000331023:L451F;ENSP00000435602:L323F	ENSP00000282441:L501F	L	+	1	0	YAP1	101605867	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.426000	0.80270	2.941000	0.99782	0.655000	0.94253	CTT		0.438	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394151.1		NM_006106		19	118	0	0	0	0.00278	0	19	118		
DYNC2H1	79659	broad.mit.edu	37	11	103055726	103055726	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:103055726A>G	ENST00000375735.2	+	41	6723	c.6579A>G	c.(6577-6579)atA>atG	p.I2193M	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.I2193M	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2193					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTAATCTCATAAGGGGACTTG	0.348																																						uc001pho.2		NaN																	0					0						c.(6577-6579)ATA>ATG		dynein, cytoplasmic 2, heavy chain 1							157.0	149.0	151.0					11																	103055726		1840	4088	5928	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103055726A>G	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.6579A>G	11.37:g.103055726A>G	ENSP00000364887:p.Ile2193Met					DYNC2H1_uc001phn.1_Missense_Mutation_p.I2193M|DYNC2H1_uc009yxe.1_Intron	p.I2193M	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	41	6723	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	2193					O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.6579A>G	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	12.64	1.998164	0.35226	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.29655	1.56;1.56	4.86	3.72	0.42706	.	.	.	.	.	T	0.36552	0.0971	M	0.82323	2.585	0.30220	N	0.796947	B;B	0.33135	0.399;0.321	B;B	0.35727	0.103;0.209	T	0.35525	-0.9785	9	0.36615	T	0.2	.	7.3778	0.26839	0.5923:0.2746:0.0:0.1331	.	2193;2193	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	M	2193	ENSP00000364887:I2193M;ENSP00000381167:I2193M	ENSP00000364887:I2193M	I	+	3	3	DYNC2H1	102560936	0.986000	0.35501	1.000000	0.80357	0.955000	0.61496	0.446000	0.21694	0.787000	0.33731	0.377000	0.23210	ATA		0.348	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1		XM_370652		20	53	0	0	0	0.00333	0	20	53		
DYNC2H1	79659	broad.mit.edu	37	11	103270433	103270433	+	Nonsense_Mutation	SNP	C	C	T	rs376596919		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:103270433C>T	ENST00000375735.2	+	84	12343	c.12199C>T	c.(12199-12201)Cga>Tga	p.R4067*	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.R4074*	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4067					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TCCTAACGATCGACAAGGATC	0.348																																						uc001pho.2		NaN																	0					0						c.(12199-12201)CGA>TGA		dynein, cytoplasmic 2, heavy chain 1		C	stop/ARG,stop/ARG	0,3742		0,0,1871	79.0	74.0	75.0		12220,12199	4.8	1.0	11		75	1,8189		0,1,4094	no	stop-gained,stop-gained	DYNC2H1	NM_001080463.1,NM_001377.2	,	0,1,5965	TT,TC,CC		0.0122,0.0,0.0084	,	4074/4315,4067/4308	103270433	1,11931	1871	4095	5966	SO:0001587	stop_gained	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103270433C>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.12199C>T	11.37:g.103270433C>T	ENSP00000364887:p.Arg4067*					DYNC2H1_uc001phn.1_Nonsense_Mutation_p.R4074*|DYNC2H1_uc009yxe.1_Intron	p.R4067*	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	84	12343	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	4067					O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Nonsense_Mutation	SNP	ENST00000375735.2	37	c.12199C>T	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	C	53	21.102253	0.99937	0.0	1.22E-4	ENSG00000187240	ENST00000375735;ENST00000398093;ENST00000540621	.	.	.	5.78	4.82	0.62117	.	0.539313	0.18403	N	0.142305	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	15.648	0.77070	0.1379:0.8621:0.0:0.0	.	.	.	.	X	4067;4074;313	.	ENSP00000364887:R4067X	R	+	1	2	DYNC2H1	102775643	0.892000	0.30473	1.000000	0.80357	0.311000	0.27955	1.722000	0.38042	2.736000	0.93811	0.557000	0.71058	CGA		0.348	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1		XM_370652		13	31	0	0	0	0.00499	0	13	31		
ATM	472	broad.mit.edu	37	11	108122629	108122629	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:108122629G>T	ENST00000452508.2	+	12	1862	c.1673G>T	c.(1672-1674)gGa>gTa	p.G558V	ATM_ENST00000278616.4_Missense_Mutation_p.G558V			Q13315	ATM_HUMAN	ATM serine/threonine kinase	558					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GTAAAAATGGGAATAGAGCAA	0.353			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1		NaN	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		0		p.G558*(1)		haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(1672-1674)GGA>GTA	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							127.0	124.0	125.0					11																	108122629		2201	4298	6499	SO:0001583	missense	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108122629G>T	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.1673G>T	11.37:g.108122629G>T	ENSP00000388058:p.Gly558Val	TSP Lung(14;0.12)				ATM_uc009yxr.1_Missense_Mutation_p.G558V	p.G558V	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	11	2058	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	558					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.1673G>T	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.630289	0.28978	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.79033	-1.23;-1.23;-1.23	6.03	3.17	0.36434	Armadillo-type fold (1);	0.475478	0.22910	N	0.054151	T	0.70395	0.3219	L	0.59436	1.845	0.39875	D	0.973553	B	0.34103	0.437	B	0.26416	0.069	T	0.71928	-0.4444	10	0.59425	D	0.04	.	11.5022	0.50444	0.1944:0.0:0.8056:0.0	.	558	Q13315	ATM_HUMAN	V	558	ENSP00000435747:G558V;ENSP00000278616:G558V;ENSP00000388058:G558V	ENSP00000278616:G558V	G	+	2	0	ATM	107627839	1.000000	0.71417	0.057000	0.19452	0.465000	0.32709	3.227000	0.51262	0.903000	0.36546	-0.262000	0.10625	GGA		0.353	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1		NM_000051		16	87	1	0	1.45105e-14	0.006122	1.61425e-14	16	87		
ATM	472	broad.mit.edu	37	11	108201015	108201015	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:108201015G>C	ENST00000452508.2	+	51	7571	c.7382G>C	c.(7381-7383)cGc>cCc	p.R2461P	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.R2461P			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2461	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GATCGTAAACGCTTCTTATGT	0.388			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1		NaN	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		0				haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(7381-7383)CGC>CCC	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							124.0	127.0	126.0					11																	108201015		2201	4298	6499	SO:0001583	missense	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108201015G>C	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.7382G>C	11.37:g.108201015G>C	ENSP00000388058:p.Arg2461Pro	TSP Lung(14;0.12)				ATM_uc009yxr.1_Missense_Mutation_p.R2461P|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.R1113P|ATM_uc001pkg.1_Missense_Mutation_p.R818P	p.R2461P	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	50	7767	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2461			FAT.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.7382G>C	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970373	0.74246	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.83419	-1.72;-1.72	4.7	3.79	0.43588	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.88865	0.6553	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	D	0.87485	0.2423	10	0.36615	T	0.2	.	12.4996	0.55948	0.0819:0.0:0.9181:0.0	.	2461	Q13315	ATM_HUMAN	P	2461	ENSP00000278616:R2461P;ENSP00000388058:R2461P	ENSP00000278616:R2461P	R	+	2	0	ATM	107706225	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	6.248000	0.72418	1.095000	0.41419	-0.221000	0.12465	CGC		0.388	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1		NM_000051		10	44	0	0	0	0.010729	0	10	44		
CLMP	79827	broad.mit.edu	37	11	122953891	122953891	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:122953891A>G	ENST00000448775.2	-	5	921	c.581T>C	c.(580-582)cTg>cCg	p.L194P	CLMP_ENST00000530371.1_5'UTR	NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	194	Ig-like C2-type 2.				digestive tract development (GO:0048565)	cell surface (GO:0009986)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						ATTCTGCAGCAGAACTCGTCC	0.443																																						uc001pyt.2		NaN																	0					0						c.(580-582)CTG>CCG		adipocyte-specific adhesion molecule precursor							145.0	130.0	135.0					11																	122953891		2202	4299	6501	SO:0001583	missense	79827					integral to membrane|tight junction		g.chr11:122953891A>G	BC009371	CCDS8441.1	11q24	2013-01-29			ENSG00000166250	ENSG00000166250		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24039	protein-coding gene	gene with protein product	"""adipocyte-specific adhesion molecule"", ""coxsackie- and adenovirus receptor-like membrane protein"", ""adipocyte adhesion molecule"""	611693				12851705, 14573622	Standard	NM_024769		Approved	ASAM, FLJ22415, ACAM	uc001pyt.3	Q9H6B4		ENST00000448775.2:c.581T>C	11.37:g.122953891A>G	ENSP00000405577:p.Leu194Pro						p.L194P	NM_024769	NP_079045	Q9H6B4	CLMP_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.73e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)	5	940	-		Breast(109;0.0025)|Lung NSC(97;0.0179)|all_lung(97;0.0182)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	194			Ig-like C2-type 2.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000448775.2	37	c.581T>C	CCDS8441.1	.	.	.	.	.	.	.	.	.	.	A	18.95	3.732593	0.69189	.	.	ENSG00000166250	ENST00000448775	T	0.15834	2.39	5.21	5.21	0.72293	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.127078	0.53938	D	0.000055	T	0.40743	0.1129	M	0.79926	2.475	0.80722	D	1	D	0.65815	0.995	D	0.64410	0.925	T	0.26360	-1.0105	10	0.33141	T	0.24	.	13.6685	0.62409	1.0:0.0:0.0:0.0	.	194	Q9H6B4	CLMP_HUMAN	P	194	ENSP00000405577:L194P	ENSP00000405577:L194P	L	-	2	0	CLMP	122459101	0.980000	0.34600	0.999000	0.59377	0.994000	0.84299	5.909000	0.69923	1.975000	0.57531	0.460000	0.39030	CTG		0.443	CLMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387542.1		NM_024769		11	134	0	0	0	0.013537	0	11	134		
ACRV1	56	broad.mit.edu	37	11	125547901	125547901	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:125547901G>A	ENST00000533904.1	-	2	686	c.344C>T	c.(343-345)tCa>tTa	p.S115L	ACRV1_ENST00000315608.3_Missense_Mutation_p.S115L|ACRV1_ENST00000445562.1_Intron|ACRV1_ENST00000345274.1_Missense_Mutation_p.S45L|ACRV1_ENST00000348856.3_Missense_Mutation_p.S60L|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000453509.1_Missense_Mutation_p.S45L|ACRV1_ENST00000527795.1_Missense_Mutation_p.S45L|ACRV1_ENST00000530048.1_Missense_Mutation_p.S60L|ACRV1_ENST00000425431.1_Intron			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	115	4 X 4 AA repeats of S-G-E-H.|9 X 5 AA repeats of [SV]-G-E-Q-[PSA].				multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		CTGTTCTCCTGAAGGCTGCTC	0.527																																						uc001qcs.2		NaN																	0					0						c.(343-345)TCA>TTA		acrosomal vesicle protein 1 isoform a precursor							150.0	132.0	138.0					11																	125547901		2201	4299	6500	SO:0001583	missense	56				multicellular organismal development	acrosomal vesicle		g.chr11:125547901G>A	AK223335	CCDS8460.1, CCDS8461.1, CCDS44759.1, CCDS44761.1	11q24.2	2012-05-16			ENSG00000134940	ENSG00000134940			127	protein-coding gene	gene with protein product	"""sperm protein 10"""	102525				1693291, 8288254	Standard	NM_001612		Approved	SPACA2, SP-10, D11S4365	uc001qcs.3	P26436	OTTHUMG00000165854	ENST00000533904.1:c.344C>T	11.37:g.125547901G>A	ENSP00000432816:p.Ser115Leu					ACRV1_uc001qck.2_Missense_Mutation_p.S45L|ACRV1_uc001qcl.2_Missense_Mutation_p.S45L|ACRV1_uc001qcm.2_Intron|ACRV1_uc001qcn.2_Missense_Mutation_p.S60L|ACRV1_uc001qco.2_Intron|ACRV1_uc001qcp.2_Intron|ACRV1_uc001qcq.2_Missense_Mutation_p.S45L|ACRV1_uc001qcr.2_Missense_Mutation_p.S115L	p.S115L	NM_001612	NP_001603	P26436	ASPX_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)	2	611	-	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	115			4 X 4 AA repeats of S-G-E-H.|3-2.|9 X 5 AA repeats of [SV]-G-E-Q-[PSA].		Q53FF4	Missense_Mutation	SNP	ENST00000533904.1	37	c.344C>T	CCDS8460.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.883522	0.33255	.	.	ENSG00000134940	ENST00000533904;ENST00000433875;ENST00000257382;ENST00000426183;ENST00000453509;ENST00000348856;ENST00000345274;ENST00000315608;ENST00000530048;ENST00000527795	T;T;T;T;T;T;T;T;T;T	0.58506	1.76;1.8;1.76;1.7;1.74;1.86;0.33;1.8;1.76;1.7	4.57	3.65	0.41850	.	1.098180	0.07090	N	0.838587	T	0.60766	0.2294	L	0.55103	1.725	0.22034	N	0.999403	B;B;B;B;B;B	0.33807	0.056;0.01;0.045;0.009;0.005;0.426	B;B;B;B;B;B	0.42245	0.027;0.009;0.072;0.02;0.009;0.381	T	0.51857	-0.8652	10	0.30854	T	0.27	-3.0664	11.0324	0.47781	0.0948:0.0:0.9052:0.0	.	115;115;45;60;45;45	P26436;P26436-2;P26436-8;P26436-3;P26436-4;P26436-5	ASPX_HUMAN;.;.;.;.;.	L	115;115;60;45;45;60;45;115;60;45	ENSP00000432816:S115L;ENSP00000407846:S115L;ENSP00000257382:S60L;ENSP00000411583:S45L;ENSP00000397448:S45L;ENSP00000257385:S60L;ENSP00000257383:S45L;ENSP00000317684:S115L;ENSP00000433720:S60L;ENSP00000436819:S45L	ENSP00000257382:S60L	S	-	2	0	ACRV1	125053111	0.072000	0.21174	0.006000	0.13384	0.009000	0.06853	2.583000	0.46094	1.216000	0.43427	0.609000	0.83330	TCA		0.527	ACRV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386722.1		NM_001612		11	160	0	0	0	0.010729	0	11	160		
KDM5A	5927	broad.mit.edu	37	12	431654	431654	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:431654C>T	ENST00000399788.2	-	17	2717	c.2355G>A	c.(2353-2355)agG>agA	p.R785R	KDM5A_ENST00000382815.4_Silent_p.R785R	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	785					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TTACAGCATCCCTGAGTTTTC	0.393			T	NUP98	AML																																	uc001qif.1		NaN		Dom	yes		12	12p11	5927	T 	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		0				skin(2)|ovary(1)	3						c.(2353-2355)AGG>AGA		retinoblastoma binding protein 2 isoform 1							106.0	105.0	105.0					12																	431654		1846	4089	5935	SO:0001819	synonymous_variant	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:431654C>T		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.2355G>A	12.37:g.431654C>T						KDM5A_uc001qie.1_Silent_p.R785R|KDM5A_uc010sdn.1_Silent_p.R744R	p.R785R	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN			17	2718	-			785					A8MV76|Q4LE72|Q86XZ1	Silent	SNP	ENST00000399788.2	37	c.2355G>A	CCDS41736.1																																																																																				0.393	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1		NM_005056		16	143	0	0	0	0.00499	0	16	143		
PLEKHA5	54477	broad.mit.edu	37	12	19427653	19427653	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:19427653T>A	ENST00000299275.6	+	10	1037	c.1031T>A	c.(1030-1032)gTa>gAa	p.V344E	PLEKHA5_ENST00000424268.1_Missense_Mutation_p.V236E|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.V344E|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.V102E|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.V350E|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.V344E|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.V344E|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.V344E|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.V236E|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.V344E|PLEKHA5_ENST00000510738.2_3'UTR	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	344					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					ATTAATAGTGTAAAGCTGAAT	0.383																																					Pancreas(196;329 2193 11246 14234 19524)	uc001reb.2		NaN																	0				ovary(1)|kidney(1)|skin(1)	3						c.(1030-1032)GTA>GAA		pleckstrin homology domain containing, family A							102.0	109.0	107.0					12																	19427653		2203	4300	6503	SO:0001583	missense	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19427653T>A	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.1031T>A	12.37:g.19427653T>A	ENSP00000299275:p.Val344Glu					PLEKHA5_uc010sie.1_Missense_Mutation_p.V350E|PLEKHA5_uc001rea.2_Missense_Mutation_p.V344E|PLEKHA5_uc009zin.2_Missense_Mutation_p.V102E|PLEKHA5_uc010sif.1_Missense_Mutation_p.V236E|PLEKHA5_uc010sig.1_Missense_Mutation_p.V236E|PLEKHA5_uc010sih.1_Missense_Mutation_p.V236E|PLEKHA5_uc001rec.1_Missense_Mutation_p.V32E	p.V344E	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN			10	1117	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		344					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	c.1031T>A	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.971895	0.74246	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000309364;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974	T;T;T;T;T;T;T;T;T;T;T	0.17370	2.8;2.71;2.81;2.73;2.77;2.8;2.28;2.71;2.76;2.77;2.79	5.82	5.82	0.92795	.	0.308662	0.34603	N	0.003836	T	0.32496	0.0831	L	0.44542	1.39	0.38271	D	0.942154	P;D;D;D;D;D;D	0.89917	0.916;1.0;0.999;0.999;0.998;0.999;0.999	P;D;D;D;D;D;D	0.69824	0.718;0.966;0.925;0.925;0.937;0.959;0.966	T	0.14144	-1.0483	10	0.87932	D	0	-18.3022	12.0983	0.53767	0.0:0.0:0.1432:0.8568	.	344;236;236;350;350;344;344	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;PKHA5_HUMAN;.	E	344;344;344;351;344;350;344;102;344;236;236;236	ENSP00000325155:V344E;ENSP00000347560:V344E;ENSP00000352104:V344E;ENSP00000311239:V344E;ENSP00000404296:V350E;ENSP00000299275:V344E;ENSP00000440611:V102E;ENSP00000439673:V344E;ENSP00000400411:V236E;ENSP00000439837:V236E;ENSP00000440371:V236E	ENSP00000299275:V344E	V	+	2	0	PLEKHA5	19318920	1.000000	0.71417	0.983000	0.44433	0.958000	0.62258	6.512000	0.73737	2.227000	0.72691	0.455000	0.32223	GTA		0.383	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1		NM_019012		23	127	0	0	0	0.005443	0	23	127		
C12orf77	196415	broad.mit.edu	37	12	25148970	25148970	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:25148970G>C	ENST00000549828.1	-	3	382	c.178C>G	c.(178-180)Cta>Gta	p.L60V	C12orf77_ENST00000434912.3_Missense_Mutation_p.L5V|C12orf77_ENST00000549262.1_Missense_Mutation_p.L5V	NM_001101339.1	NP_001094809.1	C9JDV5	CL097_HUMAN	chromosome 12 open reading frame 77	60										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						CCAGTGGGTAGAGAACCCGGC	0.458																																						uc001rgf.2		NaN																	0					0						c.(178-180)CTA>GTA		hypothetical protein LOC196415							78.0	78.0	78.0					12																	25148970		1908	4130	6038	SO:0001583	missense	196415							g.chr12:25148970G>C	BC046192	CCDS44846.1	12p12.1	2009-09-30			ENSG00000226397	ENSG00000226397			27282	protein-coding gene	gene with protein product						12477932	Standard	NM_001101339		Approved		uc001rgf.3	C9JDV5	OTTHUMG00000170185	ENST00000549828.1:c.178C>G	12.37:g.25148970G>C	ENSP00000447146:p.Leu60Val						p.L60V	NM_001101339	NP_001094809	C9JDV5	CL097_HUMAN			3	383	-			60						Missense_Mutation	SNP	ENST00000549828.1	37	c.178C>G	CCDS44846.1	.	.	.	.	.	.	.	.	.	.	G	7.378	0.628268	0.14257	.	.	ENSG00000226397	ENST00000549828;ENST00000549262;ENST00000434912	T;T;T	0.57107	0.47;0.42;0.42	2.67	-0.266	0.12942	.	.	.	.	.	T	0.44180	0.1281	N	0.08118	0	0.09310	N	1	D	0.64830	0.994	D	0.63381	0.914	T	0.32613	-0.9900	9	0.87932	D	0	.	5.1078	0.14793	0.4526:0.0:0.5474:0.0	.	60	C9JDV5	CL097_HUMAN	V	60;5;5	ENSP00000447146:L60V;ENSP00000447028:L5V;ENSP00000403451:L5V	ENSP00000403451:L5V	L	-	1	2	C12orf77	25040237	0.007000	0.16637	0.000000	0.03702	0.128000	0.20619	0.054000	0.14205	-0.085000	0.12573	-0.150000	0.13652	CTA		0.458	C12orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407827.1		NM_001101339		5	42	0	0	0	0.001168	0	5	42		
ITPR2	3709	broad.mit.edu	37	12	26647234	26647234	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:26647234G>A	ENST00000381340.3	-	39	5638	c.5222C>T	c.(5221-5223)tCa>tTa	p.S1741L		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1741					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GTCTGACATTGATATCCCCAT	0.338																																						uc001rhg.2		NaN																	0				kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14						c.(5221-5223)TCA>TTA		inositol 1,4,5-triphosphate receptor, type 2							98.0	81.0	87.0					12																	26647234		1839	4101	5940	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26647234G>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.5222C>T	12.37:g.26647234G>A	ENSP00000370744:p.Ser1741Leu					ITPR2_uc009zjg.1_5'UTR	p.S1741L	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			39	5639	-	Colorectal(261;0.0847)		1741			Cytoplasmic (Potential).		O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.5222C>T	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.200337	0.38905	.	.	ENSG00000123104	ENST00000381340	D	0.90844	-2.74	3.97	3.08	0.35506	.	0.510359	0.20200	N	0.097101	D	0.86871	0.6037	L	0.55481	1.735	0.22888	N	0.998605	B	0.06786	0.001	B	0.06405	0.002	T	0.75393	-0.3333	10	0.29301	T	0.29	.	12.4098	0.55461	0.0831:0.0:0.9169:0.0	.	1741	Q14571	ITPR2_HUMAN	L	1741	ENSP00000370744:S1741L	ENSP00000370744:S1741L	S	-	2	0	ITPR2	26538501	0.896000	0.30565	0.059000	0.19551	0.993000	0.82548	3.156000	0.50708	1.255000	0.44051	0.591000	0.81541	TCA		0.338	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1		NM_002223		13	53	0	0	0	0.007413	0	13	53		
TM7SF3	51768	broad.mit.edu	37	12	27135731	27135731	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:27135731G>C	ENST00000343028.4	-	7	1155	c.930C>G	c.(928-930)ttC>ttG	p.F310L	TM7SF3_ENST00000542667.1_Intron	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	310	Phe-rich.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F310L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					TGTGTCCAAAGAAACAAATGA	0.368																																						uc010sjl.1		NaN																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)	2						c.(928-930)TTC>TTG		transmembrane 7 superfamily member 3 precursor							77.0	80.0	79.0					12																	27135731		2203	4300	6503	SO:0001583	missense	51768					integral to membrane|plasma membrane		g.chr12:27135731G>C	AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.930C>G	12.37:g.27135731G>C	ENSP00000342322:p.Phe310Leu						p.F310L	NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN			7	1168	-	Colorectal(261;0.0847)		310			Phe-rich.|Helical; (Potential).		B3KMZ3|Q9NUS4	Missense_Mutation	SNP	ENST00000343028.4	37	c.930C>G	CCDS8710.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.03|18.03	3.531318|3.531318	0.64972|0.64972	.|.	.|.	ENSG00000064115|ENSG00000064115	ENST00000343028;ENST00000543655;ENST00000535819|ENST00000545303	T;T;T|.	0.41758|.	1.32;0.99;0.99|.	5.21|5.21	3.39|3.39	0.38822|0.38822	.|.	0.046312|.	0.85682|.	D|.	0.000000|.	T|T	0.64962|0.64962	0.2646|0.2646	M|M	0.71581|0.71581	2.175|2.175	0.49687|0.49687	D|D	0.999817|0.999817	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.62378|0.62378	-0.6867|-0.6867	10|5	0.44086|.	T|.	0.13|.	-17.5639|-17.5639	9.9899|9.9899	0.41865|0.41865	0.2376:0.0:0.7624:0.0|0.2376:0.0:0.7624:0.0	.|.	310|.	Q9NS93|.	TM7S3_HUMAN|.	L|C	310;101;101|91	ENSP00000342322:F310L;ENSP00000441924:F101L;ENSP00000445156:F101L|.	ENSP00000342322:F310L|.	F|S	-|-	3|2	2|0	TM7SF3|TM7SF3	27026998|27026998	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.311000|2.311000	0.43717|0.43717	0.710000|0.710000	0.31997|0.31997	0.591000|0.591000	0.81541|0.81541	TTC|TCT		0.368	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403033.1		NM_016551		6	36	0	0	0	0.00308	0	6	36		
FAM60A	58516	broad.mit.edu	37	12	31446847	31446847	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:31446847C>T	ENST00000337682.4	-	4	615	c.247G>A	c.(247-249)Gga>Aga	p.G83R	FAM60A_ENST00000542983.1_5'UTR|FAM60A_ENST00000454658.2_Missense_Mutation_p.G83R|FAM60A_ENST00000395766.1_5'UTR|FAM60A_ENST00000539409.1_Intron	NM_001135812.1	NP_001129284.1	Q9NP50	FA60A_HUMAN	family with sequence similarity 60, member A	83					negative regulation of cell migration (GO:0030336)	Sin3 complex (GO:0016580)				large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					AGACTGGGTCCAGCCCTTGCA	0.368																																						uc010sjz.1		NaN																	0					0						c.(247-249)GGA>AGA		family with sequence similarity 60, member A							77.0	70.0	73.0					12																	31446847		2203	4300	6503	SO:0001583	missense	58516							g.chr12:31446847C>T	AF212220	CCDS8723.1	12p11.21	2012-11-30	2005-04-07	2005-04-07	ENSG00000139146	ENSG00000139146			30702	protein-coding gene	gene with protein product		615027	"""chromosome 12 open reading frame 14"""	C12orf14		11042152, 22984288, 22865885	Standard	NM_021238		Approved	TERA	uc001rke.3	Q9NP50	OTTHUMG00000168586	ENST00000337682.4:c.247G>A	12.37:g.31446847C>T	ENSP00000337477:p.Gly83Arg					FAM60A_uc001rkd.2_Missense_Mutation_p.G83R|FAM60A_uc010ska.1_Missense_Mutation_p.G83R|FAM60A_uc001rke.2_Missense_Mutation_p.G83R|FAM60A_uc010skb.1_Intron|FAM60A_uc001rkc.2_Missense_Mutation_p.G108R	p.G83R	NM_021238	NP_067061	Q9NP50	FA60A_HUMAN			4	486	-	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)		83					D3DUV8|Q9BSZ8	Missense_Mutation	SNP	ENST00000337682.4	37	c.247G>A	CCDS8723.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304207	0.81136	.	.	ENSG00000139146	ENST00000337682;ENST00000454658;ENST00000398170;ENST00000539004;ENST00000543615	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.71341	0.3328	M	0.81112	2.525	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.966	T	0.76937	-0.2774	10	0.87932	D	0	-14.3595	17.9696	0.89110	0.0:1.0:0.0:0.0	.	83;124	Q9NP50;B7Z287	FA60A_HUMAN;.	R	83;83;124;83;83	ENSP00000337477:G83R;ENSP00000393279:G83R;ENSP00000443881:G83R;ENSP00000437363:G83R	ENSP00000337477:G83R	G	-	1	0	FAM60A	31338114	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.332000	0.79203	2.300000	0.77407	0.561000	0.74099	GGA		0.368	FAM60A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400347.1		NM_021238		11	71	0	0	0	0.010729	0	11	71		
KMT2D	8085	broad.mit.edu	37	12	49433004	49433004	+	Splice_Site	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:49433004C>A	ENST00000301067.7	-	33	8366		c.e33+1		KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D						chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.?(2)									TGGAGCCTCACCGGCTGTTCA	0.562																																						uc001rta.3		NaN								N|F|Mis							medulloblastoma|renal		2	Unknown(2)		haematopoietic_and_lymphoid_tissue(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.e33+1		myeloid/lymphoid or mixed-lineage leukemia 2							50.0	55.0	53.0					12																	49433004		1868	4104	5972	SO:0001630	splice_region_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49433004C>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.8366+1G>T	12.37:g.49433004C>A		HNSCC(34;0.089)					p.R2789_splice	NM_003482	NP_003473	O14686	MLL2_HUMAN			33	8366	-								O14687	Splice_Site	SNP	ENST00000301067.7	37	c.8366_splice	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.674277	0.29693	.	.	ENSG00000167548	ENST00000301067	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5776	0.61883	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MLL2	47719271	1.000000	0.71417	1.000000	0.80357	0.417000	0.31264	4.030000	0.57260	2.670000	0.90874	0.561000	0.74099	.		0.562	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			Intron	27	143	1	0	9.8876e-21	0.004878	1.12191e-20	27	143		
METTL7A	25840	broad.mit.edu	37	12	51318851	51318851	+	Silent	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:51318851G>C	ENST00000548553.1	+	2	1011	c.30G>C	c.(28-30)ctG>ctC	p.L10L	METTL7A_ENST00000332160.4_Silent_p.L10L			Q9H8H3	MET7A_HUMAN	methyltransferase like 7A	10	Targeting to lipid droplets.					endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)	methyltransferase activity (GO:0008168)			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						TCCTGAGACTGGCCATTTACA	0.453																																						uc001rxb.2		NaN																	0					0						c.(28-30)CTG>CTC		methyltransferase like 7A precursor							159.0	148.0	152.0					12																	51318851		2203	4300	6503	SO:0001819	synonymous_variant	25840					endoplasmic reticulum|lipid particle|membrane	methyltransferase activity	g.chr12:51318851G>C		CCDS8804.1	12q13.12	2013-06-20			ENSG00000185432	ENSG00000185432			24550	protein-coding gene	gene with protein product						12975309	Standard	XM_006719332		Approved	DKFZP586A0522	uc001rxb.3	Q9H8H3	OTTHUMG00000169484	ENST00000548553.1:c.30G>C	12.37:g.51318851G>C						METTL7A_uc010smv.1_Silent_p.L10L	p.L10L	NM_014033	NP_054752	Q9H8H3	MET7A_HUMAN			1	318	+			10			Targeting to lipid droplets.		Q9H7R3|Q9UHZ7|Q9Y422	Silent	SNP	ENST00000548553.1	37	c.30G>C	CCDS8804.1																																																																																				0.453	METTL7A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404294.2		NM_014033		26	144	0	0	0	0.012213	0	26	144		
SLC4A8	9498	broad.mit.edu	37	12	51865155	51865155	+	Silent	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:51865155T>C	ENST00000453097.2	+	14	1960	c.1743T>C	c.(1741-1743)gaT>gaC	p.D581D	SLC4A8_ENST00000514353.3_Silent_p.D528D|SLC4A8_ENST00000358657.3_Silent_p.D608D|SLC4A8_ENST00000546663.1_3'UTR|SLC4A8_ENST00000535225.2_Silent_p.D528D|SLC4A8_ENST00000394856.1_Silent_p.D528D	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TGGCAACTGATGCCAGTTCCC	0.428																																						uc001rys.1		NaN																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(1741-1743)GAT>GAC		solute carrier family 4, sodium bicarbonate							282.0	229.0	247.0					12																	51865155		2203	4300	6503	SO:0001819	synonymous_variant	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51865155T>C	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.1743T>C	12.37:g.51865155T>C						SLC4A8_uc010sni.1_Silent_p.D528D|SLC4A8_uc001rym.2_Silent_p.D528D|SLC4A8_uc001ryn.2_Silent_p.D528D|SLC4A8_uc001ryo.2_Silent_p.D528D|SLC4A8_uc010snj.1_Silent_p.D608D|SLC4A8_uc001ryq.3_Silent_p.D581D|SLC4A8_uc001ryr.2_Silent_p.D581D|SLC4A8_uc010snk.1_Silent_p.D528D	p.D581D	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	14	1921	+			581			Helical; (Potential).			Silent	SNP	ENST00000453097.2	37	c.1743T>C	CCDS44890.1																																																																																				0.428	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1		NM_004858		31	146	0	0	0	0.003271	0	31	146		
SP1	6667	broad.mit.edu	37	12	53775912	53775912	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:53775912T>G	ENST00000327443.4	+	3	279	c.181T>G	c.(181-183)Ttg>Gtg	p.L61V	SP1_ENST00000426431.2_Missense_Mutation_p.L54V	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	61	Repressor domain.|Ser/Thr-rich.				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GCCATCCCCTTTGGCTCTGCT	0.542											OREG0021870	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001scw.2		NaN																	0				ovary(1)|breast(1)|skin(1)	3						c.(181-183)TTG>GTG		Sp1 transcription factor isoform a							44.0	44.0	44.0					12																	53775912		2203	4300	6503	SO:0001583	missense	6667				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:53775912T>G	J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11205	protein-coding gene	gene with protein product	"""specificity protein 1"""	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.181T>G	12.37:g.53775912T>G	ENSP00000329357:p.Leu61Val		OREG0021870	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	995	SP1_uc010sog.1_Missense_Mutation_p.L54V	p.L61V	NM_138473	NP_612482	P08047	SP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.00527)	3	278	+			61			Ser/Thr-rich.|Repressor domain.		E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Missense_Mutation	SNP	ENST00000327443.4	37	c.181T>G	CCDS8857.1	.	.	.	.	.	.	.	.	.	.	T	14.22	2.470220	0.43942	.	.	ENSG00000185591	ENST00000327443;ENST00000426431	T;T	0.45668	0.92;0.89	4.13	1.79	0.24919	.	0.145887	0.30302	N	0.009933	T	0.53769	0.1817	M	0.64170	1.965	0.53005	D	0.999961	D	0.63880	0.993	D	0.73708	0.981	T	0.51044	-0.8755	10	0.51188	T	0.08	.	6.553	0.22444	0.0:0.273:0.0:0.727	.	61	P08047	SP1_HUMAN	V	61;54	ENSP00000329357:L61V;ENSP00000404263:L54V	ENSP00000329357:L61V	L	+	1	2	SP1	52062179	0.974000	0.33945	1.000000	0.80357	0.994000	0.84299	1.991000	0.40727	0.739000	0.32628	0.383000	0.25322	TTG		0.542	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407044.1				16	75	0	0	0	0.007413	0	16	75		
HNRNPA1	3178	broad.mit.edu	37	12	54675607	54675607	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:54675607C>G	ENST00000340913.6	+	3	214	c.161C>G	c.(160-162)tCc>tGc	p.S54C	HNRNPA1_ENST00000546500.1_Missense_Mutation_p.S54C|RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.S54C|CBX5_ENST00000209875.4_5'Flank|RP11-968A15.2_ENST00000547177.1_RNA|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.S54C	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	54	Globular A domain.|RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|nuclear export (GO:0051168)|nuclear import (GO:0051170)|RNA export from nucleus (GO:0006405)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						ACCAAGCGCTCCAGGGGCTTT	0.448																																					Colon(83;502 1289 8436 16406 24870)	uc001sfl.2		NaN																	0				skin(2)|ovary(1)	3						c.(160-162)TCC>TGC		heterogeneous nuclear ribonucleoprotein A1							41.0	42.0	42.0					12																	54675607		1980	4189	6169	SO:0001583	missense	3178				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding	g.chr12:54675607C>G	BC009600	CCDS41793.1, CCDS44909.1	12q13.1	2013-10-11		2007-08-16	ENSG00000135486	ENSG00000135486		"""RNA binding motif (RRM) containing"""	5031	protein-coding gene	gene with protein product		164017		HNRPA1		1733858	Standard	XR_245923		Approved	hnRNPA1, hnRNP-A1	uc001sfl.3	P09651		ENST00000340913.6:c.161C>G	12.37:g.54675607C>G	ENSP00000341826:p.Ser54Cys					CBX5_uc001sfk.3_5'Flank|CBX5_uc001sfi.3_5'Flank|HNRNPA1_uc001sfm.2_Missense_Mutation_p.S54C|HNRNPA1_uc009zng.2_Missense_Mutation_p.S54C|HNRNPA1_uc009znh.2_Missense_Mutation_p.S54C|HNRNPA1_uc009zni.2_Missense_Mutation_p.S54C|HNRNPA1_uc001sfn.2_Missense_Mutation_p.S54C|HNRNPA1_uc001sfo.3_RNA|HNRNPA1_uc001sfp.1_Missense_Mutation_p.S9C|HNRNPA1_uc009znj.1_Missense_Mutation_p.S9C	p.S54C	NM_031157	NP_112420	P09651	ROA1_HUMAN			3	265	+			54			Globular A domain.|RRM 1.		A8K4Z8|Q3MIB7|Q6PJZ7	Missense_Mutation	SNP	ENST00000340913.6	37	c.161C>G	CCDS44909.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.541526	0.45280	.	.	ENSG00000135486	ENST00000546500;ENST00000547708;ENST00000547617;ENST00000552494;ENST00000340913;ENST00000330752;ENST00000552591;ENST00000551133;ENST00000547276;ENST00000548688;ENST00000550994	D;D;D;D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26;-2.26;-2.26;-2.26	3.81	3.81	0.43845	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.53938	D	0.000041	D	0.92721	0.7686	M	0.77820	2.39	0.58432	D	0.999999	D;D;D;D;D;P;D;D	0.89917	0.996;1.0;0.976;1.0;1.0;0.81;0.976;1.0	D;D;P;D;D;B;P;D	0.83275	0.955;0.992;0.817;0.992;0.994;0.381;0.817;0.996	D	0.93577	0.6909	10	0.72032	D	0.01	.	14.0089	0.64483	0.0:1.0:0.0:0.0	.	32;54;54;54;54;54;54;54	Q9BSM5;F8VRQ1;F8W6I7;F8VSB5;F8VXY0;P09651-3;P09651-2;P09651	.;.;.;.;.;.;.;ROA1_HUMAN	C	54;54;54;54;54;54;54;54;54;73;9	ENSP00000448617:S54C;ENSP00000448229:S54C;ENSP00000341826:S54C;ENSP00000333504:S54C;ENSP00000447260:S54C;ENSP00000447782:S73C;ENSP00000448917:S9C	ENSP00000333504:S54C	S	+	2	0	HNRNPA1	52961874	1.000000	0.71417	1.000000	0.80357	0.448000	0.32197	5.909000	0.69923	2.088000	0.63022	0.313000	0.20887	TCC		0.448	HNRNPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405480.1		NM_031157		7	30	0	0	0	0.004482	0	7	30		
INHBE	83729	broad.mit.edu	37	12	57850077	57850077	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:57850077G>A	ENST00000266646.2	+	2	715	c.499G>A	c.(499-501)Ggc>Agc	p.G167S	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	167					growth (GO:0040007)	extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						CACCAACCTGGGCTGGCATAC	0.577											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(191;1808 2166 15720 36624 50371)	uc001snw.2		NaN																	0				breast(2)|central_nervous_system(1)	3						c.(499-501)GGC>AGC		activin beta E precursor							200.0	186.0	190.0					12																	57850077		2203	4300	6503	SO:0001583	missense	83729				growth	extracellular region	growth factor activity|hormone activity	g.chr12:57850077G>A		CCDS8939.1	12q13.2	2008-02-05				ENSG00000139269			24029	protein-coding gene	gene with protein product		612031				12242034	Standard	NM_031479		Approved	activin, MGC4638	uc001snw.3	P58166		ENST00000266646.2:c.499G>A	12.37:g.57850077G>A	ENSP00000266646:p.Gly167Ser		OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1026		p.G167S	NM_031479	NP_113667	P58166	INHBE_HUMAN			2	723	+			167						Missense_Mutation	SNP	ENST00000266646.2	37	c.499G>A	CCDS8939.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.158924	0.38119	.	.	ENSG00000139269	ENST00000547970;ENST00000266646	D;T	0.83755	-1.76;-0.28	4.61	4.61	0.57282	Transforming growth factor-beta, N-terminal (1);	0.132156	0.52532	D	0.000070	D	0.88847	0.6548	M	0.80422	2.495	0.46437	D	0.999041	D	0.89917	1.0	D	0.87578	0.998	D	0.85787	0.1365	10	0.20046	T	0.44	-8.804	8.8309	0.35082	0.1002:0.0:0.8998:0.0	.	167	P58166	INHBE_HUMAN	S	112;167	ENSP00000450212:G112S;ENSP00000266646:G167S	ENSP00000266646:G167S	G	+	1	0	INHBE	56136344	1.000000	0.71417	0.952000	0.39060	0.079000	0.17450	3.484000	0.53201	2.551000	0.86045	0.655000	0.94253	GGC		0.577	INHBE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406773.1		NM_031479		87	336	0	0	0	0.01441	0	87	336		
TMEM5	10329	broad.mit.edu	37	12	64195998	64195998	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:64195998A>C	ENST00000261234.6	+	4	714	c.556A>C	c.(556-558)Aat>Cat	p.N186H	TMEM5_ENST00000537373.1_5'UTR	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	186						integral component of plasma membrane (GO:0005887)				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		TTATGCACAAAATTTAGTGCA	0.363																																						uc001srq.1		NaN																	0					0						c.(556-558)AAT>CAT		transmembrane protein 5							80.0	78.0	79.0					12																	64195998		2203	4300	6503	SO:0001583	missense	10329					integral to plasma membrane		g.chr12:64195998A>C	AB015633	CCDS8966.1, CCDS61179.1	12q14.1	2013-05-07			ENSG00000118600	ENSG00000118600			13530	protein-coding gene	gene with protein product		605862				10072769, 23217329	Standard	NM_014254		Approved	HP10481	uc001srq.2	Q9Y2B1	OTTHUMG00000168730	ENST00000261234.6:c.556A>C	12.37:g.64195998A>C	ENSP00000261234:p.Asn186His					TMEM5_uc001srr.1_Missense_Mutation_p.N83H|TMEM5_uc001srs.1_5'UTR	p.N186H	NM_014254	NP_055069	Q9Y2B1	TMEM5_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)	4	660	+		Myeloproliferative disorder(1001;0.0255)	186			Extracellular (Potential).		A8K017|Q6PKD6	Missense_Mutation	SNP	ENST00000261234.6	37	c.556A>C	CCDS8966.1	.	.	.	.	.	.	.	.	.	.	A	15.18	2.755843	0.49362	.	.	ENSG00000118600	ENST00000261234	T	0.32988	1.43	4.93	4.93	0.64822	.	0.226096	0.45361	D	0.000372	T	0.42381	0.1200	L	0.38531	1.155	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.15235	-1.0444	9	.	.	.	-18.9033	15.2813	0.73787	1.0:0.0:0.0:0.0	.	186	Q9Y2B1	TMEM5_HUMAN	H	186	ENSP00000261234:N186H	.	N	+	1	0	TMEM5	62482265	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	3.801000	0.55545	2.146000	0.66826	0.482000	0.46254	AAT		0.363	TMEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400821.1		NM_014254		4	62	0	0	0	0.009096	0	4	62		
IRAK3	11213	broad.mit.edu	37	12	66605244	66605244	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:66605244C>G	ENST00000261233.4	+	5	876	c.455C>G	c.(454-456)tCc>tGc	p.S152C	IRAK3_ENST00000457197.2_Missense_Mutation_p.S91C	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		CTTAAATCTTCCATCAGCTTT	0.338																																						uc001sth.2		NaN																	0				lung(3)|ovary(2)|breast(2)|central_nervous_system(1)	8						c.(454-456)TCC>TGC		interleukin-1 receptor-associated kinase 3							57.0	56.0	56.0					12																	66605244		2202	4298	6500	SO:0001583	missense	11213				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66605244C>G	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.455C>G	12.37:g.66605244C>G	ENSP00000261233:p.Ser152Cys					IRAK3_uc010ssy.1_Missense_Mutation_p.S91C	p.S152C	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	5	557	+			152						Missense_Mutation	SNP	ENST00000261233.4	37	c.455C>G	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	C	9.172	1.021402	0.19433	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	T;T	0.35236	1.32;1.32	5.94	5.94	0.96194	.	0.227351	0.39909	N	0.001237	T	0.28532	0.0706	L	0.29908	0.895	0.24176	N	0.9956	B;B	0.17667	0.023;0.013	B;B	0.16289	0.015;0.007	T	0.09751	-1.0660	9	.	.	.	-8.7121	15.8553	0.78975	0.0:1.0:0.0:0.0	.	91;152	Q9Y616-2;Q9Y616	.;IRAK3_HUMAN	C	152;91	ENSP00000261233:S152C;ENSP00000409852:S91C	.	S	+	2	0	IRAK3	64891511	0.282000	0.24268	0.521000	0.27850	0.126000	0.20510	1.757000	0.38400	2.812000	0.96745	0.557000	0.71058	TCC		0.338	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1				6	47	0	0	0	0.001168	0	6	47		
PTPRR	5801	broad.mit.edu	37	12	71139613	71139613	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:71139613A>G	ENST00000283228.2	-	6	1444	c.992T>C	c.(991-993)aTa>aCa	p.I331T	PTPRR_ENST00000378778.1_Missense_Mutation_p.I125T|PTPRR_ENST00000549308.1_Missense_Mutation_p.I86T|PTPRR_ENST00000342084.4_Missense_Mutation_p.I219T|PTPRR_ENST00000440835.2_Missense_Mutation_p.I86T	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	331					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TTGAAGTCCTATGGGCTTCAT	0.423																																						uc001swi.1		NaN																	0				skin(2)|ovary(1)	3						c.(991-993)ATA>ACA		protein tyrosine phosphatase, receptor type, R							84.0	74.0	78.0					12																	71139613		2203	4300	6503	SO:0001583	missense	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71139613A>G	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.992T>C	12.37:g.71139613A>G	ENSP00000283228:p.Ile331Thr					PTPRR_uc001swh.1_Missense_Mutation_p.I86T|PTPRR_uc009zrs.2_Missense_Mutation_p.I180T|PTPRR_uc010stq.1_Missense_Mutation_p.I219T|PTPRR_uc010str.1_Missense_Mutation_p.I180T	p.I331T	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	6	1408	-			331			Cytoplasmic (Potential).		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.992T>C	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	A	14.41	2.527480	0.44969	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308;ENST00000550661	T;T;T;T;T;T	0.17370	4.15;3.94;4.14;4.13;4.15;2.28	5.53	5.53	0.82687	.	0.113638	0.37955	N	0.001863	T	0.14098	0.0341	L	0.29908	0.895	0.34524	D	0.708518	B;B;B;B	0.29716	0.255;0.066;0.066;0.094	B;B;B;B	0.24394	0.053;0.036;0.023;0.016	T	0.14172	-1.0482	10	0.39692	T	0.17	-8.3763	15.6554	0.77129	1.0:0.0:0.0:0.0	.	180;219;125;331	B7Z998;F5GXR7;Q15256-4;Q15256	.;.;.;PTPRR_HUMAN	T	86;331;125;219;86;86	ENSP00000391750:I86T;ENSP00000283228:I331T;ENSP00000368054:I125T;ENSP00000339605:I219T;ENSP00000446943:I86T;ENSP00000449616:I86T	ENSP00000283228:I331T	I	-	2	0	PTPRR	69425880	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.285000	0.65633	2.100000	0.63781	0.533000	0.62120	ATA		0.423	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1		NM_002849		5	49	0	0	0	0.001168	0	5	49		
TRHDE	29953	broad.mit.edu	37	12	72667281	72667281	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:72667281C>G	ENST00000261180.4	+	1	819	c.723C>G	c.(721-723)atC>atG	p.I241M	TRHDE-AS1_ENST00000435350.1_RNA|TRHDE-AS1_ENST00000426250.3_RNA|TRHDE-AS1_ENST00000550334.1_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	241					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACGCGCTCATCGAGAATGAGC	0.587																																						uc001sxa.2		NaN																	0				ovary(2)|skin(1)	3						c.(721-723)ATC>ATG		thyrotropin-releasing hormone degrading enzyme							53.0	55.0	55.0					12																	72667281		2201	4300	6501	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72667281C>G	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.723C>G	12.37:g.72667281C>G	ENSP00000261180:p.Ile241Met					LOC283392_uc010stv.1_5'UTR	p.I241M	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			1	753	+			241			Extracellular (Potential).		A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.723C>G	CCDS9004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.06|11.06	1.527457|1.527457	0.27299|0.27299	.|.	.|.	ENSG00000072657|ENSG00000072657	ENST00000261180|ENST00000547300	T|.	0.03212|.	4.01|.	5.1|5.1	-5.53|-5.53	0.02552|0.02552	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.37544|0.37544	0.1007|0.1007	L|L	0.35542|0.35542	1.07|1.07	0.42086|0.42086	D|D	0.991276|0.991276	D|.	0.89917|.	1.0|.	D|.	0.77557|.	0.99|.	T|T	0.32929|0.32929	-0.9888|-0.9888	10|5	0.52906|.	T|.	0.07|.	.|.	5.4671|5.4671	0.16650|0.16650	0.4175:0.3269:0.0:0.2556|0.4175:0.3269:0.0:0.2556	.|.	241|.	Q9UKU6|.	TRHDE_HUMAN|.	M|G	241|7	ENSP00000261180:I241M|.	ENSP00000261180:I241M|.	I|R	+|+	3|1	3|2	TRHDE|TRHDE	70953548|70953548	0.232000|0.232000	0.23762|0.23762	0.944000|0.944000	0.38274|0.38274	0.186000|0.186000	0.23388|0.23388	-0.732000|-0.732000	0.04904|0.04904	-1.123000|-1.123000	0.02940|0.02940	-0.351000|-0.351000	0.07748|0.07748	ATC|CGA		0.587	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1		NM_013381		20	101	0	0	0	0.014323	0	20	101		
GLIPR1L2	144321	broad.mit.edu	37	12	75784898	75784898	+	Start_Codon_SNP	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:75784898T>C	ENST00000550916.1	+	1	49	c.2T>C	c.(1-3)aTg>aCg	p.M1T	GLIPR1L2_ENST00000547164.1_Start_Codon_SNP_p.M1T|GLIPR1L2_ENST00000441218.1_5'Flank|GLIPR1L2_ENST00000378692.3_5'UTR|GLIPR1L2_ENST00000320460.4_Start_Codon_SNP_p.M1T|GLIPR1L2_ENST00000378689.2_Start_Codon_SNP_p.M1T|CAPS2_ENST00000442339.2_5'Flank|GLIPR1L2_ENST00000435775.1_Start_Codon_SNP_p.M1T	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	1						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						CGGTGGACCATGGAGGCCGCA	0.682											OREG0021999	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001sxr.1		NaN																	0				ovary(1)	1						c.(1-3)ATG>ACG		GLI pathogenesis-related 1 like 2							20.0	20.0	20.0					12																	75784898		2202	4299	6501	SO:0001582	initiator_codon_variant	144321					integral to membrane		g.chr12:75784898T>C	BC029557	CCDS9010.1, CCDS58258.1	12q21.1	2014-06-03				ENSG00000180481			28592	protein-coding gene	gene with protein product		610394				12477932	Standard	NM_001270396		Approved	MGC39497	uc001sxr.2	Q4G1C9	OTTHUMG00000169756	ENST00000550916.1:c.2T>C	12.37:g.75784898T>C	ENSP00000448248:p.Met1Thr		OREG0021999	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1163	CAPS2_uc001sxm.3_5'Flank|CAPS2_uc009zsa.2_5'Flank|GLIPR1L2_uc001sxp.1_Missense_Mutation_p.M1T|GLIPR1L2_uc001sxq.1_5'UTR	p.M1T	NM_152436	NP_689649	Q4G1C9	GRPL2_HUMAN			1	10	+			1					Q6MZS1|Q8N6N0|Q8NA43	Missense_Mutation	SNP	ENST00000550916.1	37	c.2T>C	CCDS58258.1	.	.	.	.	.	.	.	.	.	.	T	17.25	3.342198	0.61073	.	.	ENSG00000180481	ENST00000550916;ENST00000435775;ENST00000378689;ENST00000320460;ENST00000547164	T;T;T;T	0.19938	2.98;2.11;3.15;2.11	3.72	3.72	0.42706	.	0.000000	0.50627	D	0.000111	T	0.42063	0.1186	.	.	.	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.73708	0.981;0.978	T	0.36939	-0.9727	9	0.87932	D	0	.	9.0914	0.36612	0.0:0.0:0.0:1.0	.	1;1	Q4G1C9;Q4G1C9-2	GRPL2_HUMAN;.	T	1	ENSP00000448248:M1T;ENSP00000398328:M1T;ENSP00000317385:M1T;ENSP00000447980:M1T	ENSP00000317385:M1T	M	+	2	0	GLIPR1L2	74071165	0.969000	0.33509	0.835000	0.33067	0.124000	0.20399	0.919000	0.28692	1.936000	0.56123	0.528000	0.53228	ATG		0.682	GLIPR1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405718.1		NM_152436	Missense_Mutation	3	21	0	0	0	0.009096	0	3	21		
LRRIQ1	84125	broad.mit.edu	37	12	85459088	85459088	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:85459088C>T	ENST00000393217.2	+	9	2501	c.2440C>T	c.(2440-2442)Ctg>Ttg	p.L814L		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	814										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TCTCTCCACACTGGCAGAGTG	0.383																																						uc001tac.2		NaN																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(2440-2442)CTG>TTG		leucine-rich repeats and IQ motif containing 1							146.0	138.0	140.0					12																	85459088		2203	4300	6503	SO:0001819	synonymous_variant	84125							g.chr12:85459088C>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2440C>T	12.37:g.85459088C>T						LRRIQ1_uc001tab.1_Silent_p.L814L	p.L814L	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	9	2551	+			814					Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	37	c.2440C>T	CCDS41816.1																																																																																				0.383	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2		NM_032165		22	114	0	0	0	0.003954	0	22	114		
USP44	84101	broad.mit.edu	37	12	95926706	95926706	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:95926706C>T	ENST00000258499.3	-	2	1615	c.1327G>A	c.(1327-1329)Ggt>Agt	p.G443S	USP44_ENST00000393091.2_Missense_Mutation_p.G443S|USP44_ENST00000552440.1_Missense_Mutation_p.G443S|USP44_ENST00000537435.2_Missense_Mutation_p.G443S	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	443	USP.				mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						AAACTGGTACCAGTTGTCTCT	0.388																																						uc001teg.2		NaN																	0				lung(1)|breast(1)|central_nervous_system(1)	3						c.(1327-1329)GGT>AGT		ubiquitin thiolesterase 44							108.0	109.0	108.0					12																	95926706		2203	4300	6503	SO:0001583	missense	84101				anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr12:95926706C>T	AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"""Ubiquitin-specific peptidases"""	20064	protein-coding gene	gene with protein product		610993	"""ubiquitin specific protease 44"""			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7		ENST00000258499.3:c.1327G>A	12.37:g.95926706C>T	ENSP00000258499:p.Gly443Ser					USP44_uc001teh.2_Missense_Mutation_p.G443S|USP44_uc009zte.2_Missense_Mutation_p.G440S	p.G443S	NM_001042403	NP_001035862	Q9H0E7	UBP44_HUMAN			2	1471	-			443					B2RDW3	Missense_Mutation	SNP	ENST00000258499.3	37	c.1327G>A	CCDS9053.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.236561	0.39498	.	.	ENSG00000136014	ENST00000258499;ENST00000393091;ENST00000552440;ENST00000537435	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.1	5.1	0.69264	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.044520	0.85682	D	0.000000	T	0.32852	0.0843	L	0.55743	1.74	0.58432	D	0.999994	B	0.15473	0.013	B	0.30782	0.12	T	0.08391	-1.0724	10	0.17832	T	0.49	.	15.2779	0.73756	0.0:0.8596:0.1404:0.0	.	443	Q9H0E7	UBP44_HUMAN	S	443	ENSP00000258499:G443S;ENSP00000376806:G443S;ENSP00000448670:G443S;ENSP00000442629:G443S	ENSP00000258499:G443S	G	-	1	0	USP44	94450837	0.995000	0.38212	0.993000	0.49108	0.980000	0.70556	3.225000	0.51246	2.533000	0.85409	0.555000	0.69702	GGT		0.388	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1		NM_032147		10	54	0	0	0	0.010729	0	10	54		
HAL	3034	broad.mit.edu	37	12	96370219	96370219	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:96370219G>A	ENST00000261208.3	-	20	2189	c.1821C>T	c.(1819-1821)ctC>ctT	p.L607L	HAL_ENST00000538703.1_Intron|HAL_ENST00000541929.1_Silent_p.L399L	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	607					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	TCTGCTCCAGGAGCAGCCTGT	0.507																																					NSCLC(169;943 2815 23563 30031)	uc001tem.1		NaN																	0				ovary(2)|skin(1)	3						c.(1819-1821)CTC>CTT		histidine ammonia-lyase	L-Histidine(DB00117)						58.0	66.0	63.0					12																	96370219		2203	4300	6503	SO:0001819	synonymous_variant	3034				biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity	g.chr12:96370219G>A		CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.1821C>T	12.37:g.96370219G>A						HAL_uc009zti.1_RNA|HAL_uc010suw.1_Silent_p.L399L|HAL_uc010sux.1_Intron	p.L607L	NM_002108	NP_002099	P42357	HUTH_HUMAN			20	2118	-			607					B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Silent	SNP	ENST00000261208.3	37	c.1821C>T	CCDS9058.1	.	.	.	.	.	.	.	.	.	.	G	6.971	0.549122	0.13312	.	.	ENSG00000084110	ENST00000548808	.	.	.	5.4	-10.8	0.00216	.	.	.	.	.	T	0.34832	0.0911	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43637	-0.9379	4	.	.	.	-13.6644	4.0268	0.09692	0.2374:0.4192:0.0715:0.2719	.	.	.	.	S	139	.	.	P	-	1	0	HAL	94894350	0.000000	0.05858	0.005000	0.12908	0.863000	0.49368	-2.533000	0.00942	-2.395000	0.00582	-0.165000	0.13383	CCT		0.507	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408644.1				19	96	0	0	0	0.00278	0	19	96		
APAF1	317	broad.mit.edu	37	12	99076995	99076995	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:99076995C>T	ENST00000551964.1	+	15	2857	c.2121C>T	c.(2119-2121)ttC>ttT	p.F707F	APAF1_ENST00000333991.1_Intron|APAF1_ENST00000357310.1_Silent_p.F707F|APAF1_ENST00000339433.3_Silent_p.F707F|APAF1_ENST00000549007.1_Silent_p.F707F|APAF1_ENST00000547045.1_Silent_p.F707F|APAF1_ENST00000550527.1_Silent_p.F696F|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000359972.2_Silent_p.F696F	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	707					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	GCTGCCATTTCACCAACAGTA	0.383																																						uc001tfz.2		NaN																	0				ovary(2)|lung(1)	3						c.(2119-2121)TTC>TTT		apoptotic peptidase activating factor 1 isoform	Adenosine triphosphate(DB00171)						180.0	154.0	162.0					12																	99076995		2203	4300	6503	SO:0001819	synonymous_variant	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99076995C>T	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.2121C>T	12.37:g.99076995C>T						APAF1_uc001tfy.2_Silent_p.F696F|APAF1_uc001tga.2_Silent_p.F696F|APAF1_uc001tgb.2_Silent_p.F707F|APAF1_uc001tgc.2_Intron|APAF1_uc009zto.2_Silent_p.F116F	p.F707F	NM_181861	NP_863651	O14727	APAF_HUMAN			15	2698	+			707			WD 3.		B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Silent	SNP	ENST00000551964.1	37	c.2121C>T	CCDS9069.1																																																																																				0.383	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1		NM_181861.1		19	183	0	0	0	0.014323	0	19	183		
PARPBP	55010	broad.mit.edu	37	12	102589201	102589201	+	Missense_Mutation	SNP	C	C	T	rs370128473		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:102589201C>T	ENST00000358383.5	+	10	1420	c.1375C>T	c.(1375-1377)Ctt>Ttt	p.L459F	PARPBP_ENST00000327680.2_Missense_Mutation_p.L378F|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000392911.2_Missense_Mutation_p.L378F|PARPBP_ENST00000378128.3_Intron|PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000541394.1_Missense_Mutation_p.L536F			Q9NWS1	PARI_HUMAN	PARP1 binding protein	459					DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(8)|urinary_tract(2)	11						TTTGTGTGTTCTTTACATGGA	0.264																																						uc001tjf.2		NaN																	0					0						c.(1375-1377)CTT>TTT		hypothetical protein LOC55010							148.0	149.0	149.0					12																	102589201		2202	4288	6490	SO:0001583	missense	55010				response to DNA damage stimulus	cytoplasm|nucleus	DNA binding	g.chr12:102589201C>T	AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480			26074	protein-coding gene	gene with protein product	"""PARP-1 binding protein"""	613687	"""chromosome 12 open reading frame 48"""	C12orf48		20931645	Standard	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000358383.5:c.1375C>T	12.37:g.102589201C>T	ENSP00000351153:p.Leu459Phe					C12orf48_uc001tjg.2_Missense_Mutation_p.L378F|C12orf48_uc010swa.1_Missense_Mutation_p.L536F|C12orf48_uc001tjh.2_Missense_Mutation_p.L378F|C12orf48_uc010swb.1_Intron|C12orf48_uc009zuc.2_Intron|C12orf48_uc001tjj.2_Missense_Mutation_p.L174F|C12orf48_uc001tjk.2_Intron|C12orf48_uc009zud.2_Intron	p.L459F	NM_017915	NP_060385	Q9NWS1	PR1BP_HUMAN			10	1487	+			459					B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Missense_Mutation	SNP	ENST00000358383.5	37	c.1375C>T	CCDS9090.2	.	.	.	.	.	.	.	.	.	.	C	7.600	0.672562	0.14776	.	.	ENSG00000185480	ENST00000327680;ENST00000541394;ENST00000358383;ENST00000392911	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.6	5.6	0.85130	.	0.156357	0.56097	D	0.000030	T	0.64627	0.2615	M	0.71581	2.175	0.36877	D	0.889193	D;D	0.89917	1.0;0.999	D;D	0.72338	0.977;0.967	T	0.67043	-0.5770	10	0.39692	T	0.17	-6.9899	18.6106	0.91284	0.0:1.0:0.0:0.0	.	536;459	B4DZ31;Q9NWS1	.;PR1BP_HUMAN	F	378;536;459;378	ENSP00000332915:L378F;ENSP00000440850:L536F;ENSP00000351153:L459F;ENSP00000376643:L378F	ENSP00000332915:L378F	L	+	1	0	C12orf48	101113331	0.000000	0.05858	0.368000	0.25939	0.098000	0.18820	0.294000	0.19047	2.630000	0.89119	0.655000	0.94253	CTT		0.264	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397030.2		NM_017915		15	142	0	0	0	0.006122	0	15	142		
NOS1	4842	broad.mit.edu	37	12	117696896	117696896	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:117696896G>C	ENST00000338101.4	-	14	2411	c.2407C>G	c.(2407-2409)Cat>Gat	p.H803D	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Missense_Mutation_p.H803D			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		AGAGTTTCATGTTCCAGGTGC	0.507																																					Esophageal Squamous(162;1748 2599 51982 52956)	uc001twm.1		NaN																	0				ovary(3)|skin(3)|pancreas(1)	7						c.(2407-2409)CAT>GAT		nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)						129.0	125.0	126.0					12																	117696896		2023	4193	6216	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117696896G>C		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.2407C>G	12.37:g.117696896G>C	ENSP00000337459:p.His803Asp					NOS1_uc001twn.1_5'Flank	p.H803D	NM_000620	NP_000611	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	15	3093	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		803			Flavodoxin-like.			Missense_Mutation	SNP	ENST00000338101.4	37	c.2407C>G	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717875	0.68844	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.73897	-0.79;-0.79	4.95	4.95	0.65309	Flavodoxin/nitric oxide synthase (2);	0.000000	0.85682	D	0.000000	T	0.81847	0.4909	L	0.41236	1.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83076	-0.0140	10	0.59425	D	0.04	-29.3727	17.9604	0.89083	0.0:0.0:1.0:0.0	.	803	P29475	NOS1_HUMAN	D	698;803;803;803	ENSP00000320758:H803D;ENSP00000337459:H803D	ENSP00000320758:H803D	H	-	1	0	NOS1	116181279	1.000000	0.71417	0.993000	0.49108	0.972000	0.66771	5.454000	0.66651	2.560000	0.86352	0.655000	0.94253	CAT		0.507	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1				9	102	0	0	0	0.010729	0	9	102		
COX6A1	1337	broad.mit.edu	37	12	120875952	120875952	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:120875952C>T	ENST00000229379.2	+	1	60	c.23C>T	c.(22-24)tCg>tTg	p.S8L	AL021546.6_ENST00000551806.1_5'Flank	NM_004373.3	NP_004364.2	P12074	CX6A1_HUMAN	cytochrome c oxidase subunit VIa polypeptide 1	8					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)	cytochrome-c oxidase activity (GO:0004129)					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGTGTGTCCTCGGTTTCTCGG	0.637																																						uc001tyf.1		NaN																	0					0						c.(22-24)TCG>TTG		cytochrome c oxidase subunit VIa polypeptide 1							24.0	25.0	25.0					12																	120875952		2202	4299	6501	SO:0001583	missense	1337				respiratory electron transport chain	mitochondrial respiratory chain complex IV	cytochrome-c oxidase activity	g.chr12:120875952C>T	X15341	CCDS9197.1	12q24	2011-07-04			ENSG00000111775	ENSG00000111775	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2277	protein-coding gene	gene with protein product		602072		COX6A		9284905	Standard	NM_004373		Approved		uc001tyf.2	P12074	OTTHUMG00000047791	ENST00000229379.2:c.23C>T	12.37:g.120875952C>T	ENSP00000229379:p.Ser8Leu						p.S8L	NM_004373	NP_004364	P12074	CX6A1_HUMAN			1	49	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		8					B2R500|O43714|Q32Q37	Missense_Mutation	SNP	ENST00000229379.2	37	c.23C>T	CCDS9197.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.360419	0.24598	.	.	ENSG00000111775	ENST00000229379	.	.	.	4.75	2.8	0.32819	.	0.302673	0.35407	N	0.003238	T	0.16557	0.0398	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.16100	-1.0414	9	0.25106	T	0.35	-0.2182	8.5374	0.33371	0.0814:0.2974:0.6211:0.0	.	8	P12074	CX6A1_HUMAN	L	8	.	ENSP00000229379:S8L	S	+	2	0	COX6A1	119360335	0.012000	0.17670	0.002000	0.10522	0.000000	0.00434	0.442000	0.21628	1.364000	0.46038	-0.133000	0.14855	TCG		0.637	COX6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108984.3		NM_004373		6	32	0	0	0	0.00308	0	6	32		
C12orf43	64897	broad.mit.edu	37	12	121454163	121454163	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:121454163G>A	ENST00000288757.3	-	1	137	c.115C>T	c.(115-117)Cgc>Tgc	p.R39C	C12orf43_ENST00000539736.1_Missense_Mutation_p.R39C|C12orf43_ENST00000537817.1_Missense_Mutation_p.R9C|C12orf43_ENST00000445832.3_Missense_Mutation_p.R9C|C12orf43_ENST00000366211.2_De_novo_Start_InFrame|C12orf43_ENST00000536407.2_Missense_Mutation_p.R39C	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	39										cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACGTGCGGGCGTTGCTCCAAG	0.627																																						uc001tzh.1		NaN																	0					0						c.(115-117)CGC>TGC		hypothetical protein LOC64897							34.0	35.0	35.0					12																	121454163		2203	4300	6503	SO:0001583	missense	64897							g.chr12:121454163G>A	AK022510	CCDS66486.1, CCDS66487.1	12q24.31	2012-05-30			ENSG00000157895	ENSG00000157895			25719	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001286195		Approved	FLJ12448	uc001tzh.1	Q96C57	OTTHUMG00000169150	ENST00000288757.3:c.115C>T	12.37:g.121454163G>A	ENSP00000288757:p.Arg39Cys					C12orf43_uc009zxa.1_Missense_Mutation_p.R39C|C12orf43_uc010szo.1_Translation_Start_Site|C12orf43_uc010szp.1_Missense_Mutation_p.R39C|C12orf43_uc001tzi.1_Missense_Mutation_p.R39C	p.R39C	NM_022895	NP_075046	Q96C57	CL043_HUMAN			1	138	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		39					Q53HF0|Q9H9Z7	Missense_Mutation	SNP	ENST00000288757.3	37	c.115C>T	CCDS9210.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.79|12.79	2.042244|2.042244	0.35989|0.35989	.|.	.|.	ENSG00000157895|ENSG00000157895	ENST00000445832;ENST00000288757;ENST00000537817;ENST00000539736;ENST00000538296|ENST00000536407	T;T;T;T;T|.	0.52057|.	0.71;0.81;0.69;0.8;0.68|.	5.06|5.06	0.865|0.865	0.19074|0.19074	.|.	0.539981|.	0.20116|.	N|.	0.098906|.	T|T	0.42063|0.42063	0.1186|0.1186	M|M	0.67953|0.67953	2.075|2.075	0.26115|0.26115	N|N	0.98062|0.98062	B;B;B;B|.	0.25007|.	0.105;0.116;0.105;0.066|.	B;B;B;B|.	0.19391|.	0.018;0.025;0.018;0.011|.	T|T	0.38200|0.38200	-0.9672|-0.9672	10|5	0.52906|.	T|.	0.07|.	-0.5671|-0.5671	3.0143|3.0143	0.06054|0.06054	0.0877:0.1555:0.4365:0.3202|0.0877:0.1555:0.4365:0.3202	.|.	39;9;39;39|.	G5EA44;F5H7W8;B4DWJ9;Q96C57|.	.;.;.;CL043_HUMAN|.	C|M	9;39;9;39;9|43	ENSP00000409788:R9C;ENSP00000288757:R39C;ENSP00000442224:R9C;ENSP00000437803:R39C;ENSP00000442041:R9C|.	ENSP00000288757:R39C|.	R|T	-|-	1|2	0|0	C12orf43|C12orf43	119938546|119938546	0.121000|0.121000	0.22262|0.22262	0.243000|0.243000	0.24186|0.24186	0.002000|0.002000	0.02628|0.02628	0.615000|0.615000	0.24329|0.24329	0.378000|0.378000	0.24764|0.24764	-0.175000|-0.175000	0.13238|0.13238	CGC|ACG		0.627	C12orf43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_022895		10	50	0	0	0	0.008291	0	10	50		
KNTC1	9735	broad.mit.edu	37	12	123087591	123087591	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:123087591G>A	ENST00000333479.7	+	48	5079	c.4902G>A	c.(4900-4902)ctG>ctA	p.L1634L	KNTC1_ENST00000537348.1_Silent_p.L59L|KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000436959.3_5'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1634					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TGGACACTCTGTACGTGTCTA	0.363																																						uc001ucv.2		NaN																	0				ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10						c.(4900-4902)CTG>CTA		Rough Deal homolog, centromere/kinetochore							50.0	48.0	49.0					12																	123087591		1843	4097	5940	SO:0001819	synonymous_variant	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123087591G>A		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.4902G>A	12.37:g.123087591G>A						KNTC1_uc010taf.1_Intron	p.L1634L	NM_014708	NP_055523	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	48	5065	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1634					A7E2C4|B3KSG2	Silent	SNP	ENST00000333479.7	37	c.4902G>A	CCDS45002.1																																																																																				0.363	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2				3	24	0	0	0	0.004672	0	3	24		
UFM1	51569	broad.mit.edu	37	13	38924164	38924164	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr13:38924164A>T	ENST00000239878.4	+	2	70	c.31A>T	c.(31-33)Acg>Tcg	p.T11S	UFM1_ENST00000379649.1_De_novo_Start_OutOfFrame|UFM1_ENST00000379641.1_5'Flank	NM_016617.2	NP_057701.1	P61960	UFM1_HUMAN	ubiquitin-fold modifier 1	11					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				lung(2)|ovary(1)	3		Lung NSC(96;3.18e-06)|Prostate(109;0.00314)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;1.05e-08)|Epithelial(112;1.44e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000855)|BRCA - Breast invasive adenocarcinoma(63;0.00342)|GBM - Glioblastoma multiforme(144;0.0132)		GATCACGCTGACGTCGGACCC	0.582																																						uc001uwu.2		NaN																	0					0						c.(31-33)ACG>TCG		ubiquitin-fold modifier 1 precursor							101.0	96.0	98.0					13																	38924164		2203	4300	6503	SO:0001583	missense	51569				protein ufmylation	cytoplasm|nucleus	protein binding	g.chr13:38924164A>T	AF208844	CCDS9366.1, CCDS66533.1	13q13.3	2008-02-05	2005-05-27	2005-05-27	ENSG00000120686	ENSG00000120686			20597	protein-coding gene	gene with protein product		610553	"""chromosome 13 open reading frame 20"""	C13orf20		15071506	Standard	NM_001286706		Approved	bA131P10.1	uc001uwu.3	P61960	OTTHUMG00000017409	ENST00000239878.4:c.31A>T	13.37:g.38924164A>T	ENSP00000239878:p.Thr11Ser					UFM1_uc010abz.2_Missense_Mutation_p.T11S|UFM1_uc010aca.2_Missense_Mutation_p.T11S	p.T11S	NM_016617	NP_057701	P61960	UFM1_HUMAN		all cancers(112;1.05e-08)|Epithelial(112;1.44e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000855)|BRCA - Breast invasive adenocarcinoma(63;0.00342)|GBM - Glioblastoma multiforme(144;0.0132)	2	146	+		Lung NSC(96;3.18e-06)|Prostate(109;0.00314)|Breast(139;0.0199)|Lung SC(185;0.0743)	11					Q14346|Q5VXS0|Q6IAG6|Q9CPX2|Q9NZF2	Missense_Mutation	SNP	ENST00000239878.4	37	c.31A>T	CCDS9366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.5|21.5	4.152942|4.152942	0.78001|0.78001	.|.	.|.	ENSG00000120686|ENSG00000120686	ENST00000437952|ENST00000239878	.|.	.|.	.|.	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	.|.	.|.	.|.	.|.	T|T	0.51244|0.51244	0.1663|0.1663	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|P;P	.|0.37688	.|0.605;0.529	.|B;B	.|0.38056	.|0.264;0.26	T|T	0.56547|0.56547	-0.7961|-0.7961	4|7	.|0.62326	.|D	.|0.03	.|.	11.2165|11.2165	0.48830|0.48830	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|11;11	.|Q5VXS2;P61960	.|.;UFM1_HUMAN	V|S	11|11	.|.	.|ENSP00000239878:T11S	D|T	+|+	2|1	0|0	UFM1|UFM1	37822164|37822164	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.852000|5.852000	0.69488|0.69488	2.136000|2.136000	0.66102|0.66102	0.528000|0.528000	0.53228|0.53228	GAC|ACG		0.582	UFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045989.1		NM_016617		19	126	0	0	0	0.010504	0	19	126		
FREM2	341640	broad.mit.edu	37	13	39446912	39446912	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr13:39446912C>T	ENST00000280481.7	+	17	8233	c.8017C>T	c.(8017-8019)Cga>Tga	p.R2673*		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2673					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGTGACCCTTCGAGTCCCTCT	0.438																																						uc001uwv.2		NaN																	0				ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(8017-8019)CGA>TGA		FRAS1-related extracellular matrix protein 2							160.0	151.0	154.0					13																	39446912		2203	4300	6503	SO:0001587	stop_gained	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39446912C>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8017C>T	13.37:g.39446912C>T	ENSP00000280481:p.Arg2673*						p.R2673*	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	17	8326	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2673			Extracellular (Potential).		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Nonsense_Mutation	SNP	ENST00000280481.7	37	c.8017C>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	C	50	17.020655	0.99877	.	.	ENSG00000150893	ENST00000280481	.	.	.	5.78	3.97	0.46021	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.6655	0.68904	0.4655:0.5345:0.0:0.0	.	.	.	.	X	2673	.	ENSP00000280481:R2673X	R	+	1	2	FREM2	38344912	1.000000	0.71417	0.847000	0.33407	0.996000	0.88848	3.244000	0.51399	1.405000	0.46838	0.563000	0.77884	CGA		0.438	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2		NM_207361		21	91	0	0	0	0.003954	0	21	91		
AKAP11	11215	broad.mit.edu	37	13	42876351	42876351	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr13:42876351A>G	ENST00000025301.2	+	8	3644	c.3469A>G	c.(3469-3471)Ata>Gta	p.I1157V		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1157					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		ACAAAATACTATAGAAAAAGA	0.423																																						uc001uys.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(3469-3471)ATA>GTA		A-kinase anchor protein 11							76.0	82.0	80.0					13																	42876351		2203	4300	6503	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42876351A>G	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.3469A>G	13.37:g.42876351A>G	ENSP00000025301:p.Ile1157Val						p.I1157V	NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	3644	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	1157					O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.3469A>G	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	A	12.18	1.861598	0.32884	.	.	ENSG00000023516	ENST00000025301	T	0.14766	2.48	5.8	3.36	0.38483	.	0.268851	0.35151	N	0.003414	T	0.12433	0.0302	M	0.67953	2.075	0.23906	N	0.996502	B	0.14805	0.011	B	0.13407	0.009	T	0.33085	-0.9882	10	0.23891	T	0.37	.	3.0407	0.06138	0.5675:0.1166:0.0683:0.2476	.	1157	Q9UKA4	AKA11_HUMAN	V	1157	ENSP00000025301:I1157V	ENSP00000025301:I1157V	I	+	1	0	AKAP11	41774351	0.982000	0.34865	0.767000	0.31495	0.958000	0.62258	2.444000	0.44890	0.457000	0.26962	-0.250000	0.11733	ATA		0.423	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2		NM_016248		5	115	0	0	0	0.000602	0	5	115		
RCBTB2	1102	broad.mit.edu	37	13	49064303	49064303	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr13:49064303C>T	ENST00000344532.3	-	15	2023	c.1600G>A	c.(1600-1602)Gat>Aat	p.D534N	RCBTB2_ENST00000430805.2_Missense_Mutation_p.D539N|RCBTB2_ENST00000544492.1_Missense_Mutation_p.D260N	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	534					positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		TTCAGGAGATCATGGTCCATT	0.398																																						uc001vch.2		NaN																	0				ovary(2)|lung(2)|skin(1)	5						c.(1600-1602)GAT>AAT		regulator of chromosome condensation and BTB							151.0	138.0	142.0					13																	49064303		2203	4300	6503	SO:0001583	missense	1102						Ran guanyl-nucleotide exchange factor activity	g.chr13:49064303C>T	AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"""BTB/POZ domain containing"""	1914	protein-coding gene	gene with protein product		603524	"""chromosome condensation 1-like"""	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.1600G>A	13.37:g.49064303C>T	ENSP00000345144:p.Asp534Asn					RCBTB2_uc001vcg.2_RNA|RCBTB2_uc010tgg.1_Missense_Mutation_p.D539N|RCBTB2_uc001vci.2_Missense_Mutation_p.D510N|RCBTB2_uc010tgh.1_Missense_Mutation_p.D260N|RCBTB2_uc001vcj.2_Missense_Mutation_p.D486N	p.D534N	NM_001268	NP_001259	O95199	RCBT2_HUMAN		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)	15	1971	-		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	534					B2RDW8	Missense_Mutation	SNP	ENST00000344532.3	37	c.1600G>A	CCDS9411.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.110289	0.56398	.	.	ENSG00000136161	ENST00000344532;ENST00000450343;ENST00000452987;ENST00000430805;ENST00000544492	T;T;T	0.75938	-0.1;-0.1;-0.98	5.87	5.87	0.94306	.	0.041357	0.85682	D	0.000000	T	0.58221	0.2107	N	0.12746	0.255	0.80722	D	1	B;B;B;B	0.15141	0.002;0.0;0.012;0.0	B;B;B;B	0.15052	0.008;0.001;0.012;0.001	T	0.56691	-0.7937	10	0.07030	T	0.85	.	20.1998	0.98258	0.0:1.0:0.0:0.0	.	260;539;486;534	B4E372;B4DWG0;B3KVB1;O95199	.;.;.;RCBT2_HUMAN	N	534;486;539;539;260	ENSP00000345144:D534N;ENSP00000389910:D539N;ENSP00000443862:D260N	ENSP00000345144:D534N	D	-	1	0	RCBTB2	47962304	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.537000	0.60643	2.778000	0.95560	0.655000	0.94253	GAT		0.398	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044888.2		NM_001268		7	106	0	0	0	0.006214	0	7	106		
KLHL1	57626	broad.mit.edu	37	13	70535552	70535552	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr13:70535552G>T	ENST00000377844.4	-	3	1464	c.705C>A	c.(703-705)gaC>gaA	p.D235E	KLHL1_ENST00000545028.1_Missense_Mutation_p.D42E	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	235	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CCGCAAAATAGTCGGAGACTG	0.443																																						uc001vip.2		NaN																	0					0						c.(703-705)GAC>GAA		kelch-like 1 protein							123.0	108.0	113.0					13																	70535552		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70535552G>T	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.705C>A	13.37:g.70535552G>T	ENSP00000367075:p.Asp235Glu					KLHL1_uc010thm.1_Missense_Mutation_p.D174E	p.D235E	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	3	1499	-		Breast(118;0.000162)	235			BTB.		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.705C>A	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.441559	0.25900	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.70516	-0.49;-0.49	5.07	5.07	0.68467	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.078971	0.53938	D	0.000049	T	0.63920	0.2552	N	0.21240	0.645	0.34985	D	0.754471	P;B	0.39782	0.688;0.176	P;B	0.49140	0.601;0.313	T	0.69351	-0.5168	10	0.30854	T	0.27	.	9.5795	0.39479	0.1564:0.0:0.8436:0.0	.	235;235	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	E	235;42	ENSP00000367075:D235E;ENSP00000439602:D42E	ENSP00000367075:D235E	D	-	3	2	KLHL1	69433553	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.157000	0.58144	2.527000	0.85204	0.557000	0.71058	GAC		0.443	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3		NM_020866		10	58	1	0	6.40141e-05	0.010729	6.60463e-05	10	58		
BORA	79866	broad.mit.edu	37	13	73305498	73305498	+	Missense_Mutation	SNP	G	G	C	rs374732607		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr13:73305498G>C	ENST00000390667.5	+	3	330	c.233G>C	c.(232-234)cGt>cCt	p.R78P	BORA_ENST00000464754.1_3'UTR|BORA_ENST00000377815.3_Intron	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	78					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)	protein kinase binding (GO:0019901)										GATATTCATCGTCAAGCTTTA	0.353																																						uc001viv.1		NaN																	0					0						c.(232-234)CGT>CCT		aurora borealis							117.0	109.0	111.0					13																	73305498		1821	4073	5894	SO:0001583	missense	79866				cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding	g.chr13:73305498G>C	BC025367	CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1	13q22.1	2013-08-13	2011-08-09	2011-08-09	ENSG00000136122	ENSG00000136122			24724	protein-coding gene	gene with protein product		610510	"""chromosome 13 open reading frame 34"""	C13orf34		16890155, 18378770, 18566290, 19487276	Standard	NM_001286746		Approved	FLJ22624	uc001viv.1	Q6PGQ7	OTTHUMG00000017068	ENST00000390667.5:c.233G>C	13.37:g.73305498G>C	ENSP00000375082:p.Arg78Pro					C13orf34_uc010thq.1_5'UTR|C13orf34_uc010aen.1_Missense_Mutation_p.R153P|C13orf34_uc010thr.1_Intron|C13orf34_uc001viw.1_Intron	p.R78P	NM_024808	NP_079084	Q6PGQ7	BORA_HUMAN		GBM - Glioblastoma multiforme(99;0.000227)	3	352	+		Breast(118;0.0735)	78					B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Missense_Mutation	SNP	ENST00000390667.5	37	c.233G>C	CCDS9446.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182522	0.78677	.	.	ENSG00000136122	ENST00000390667	T	0.36520	1.25	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.61502	0.2352	M	0.70275	2.135	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.995	T	0.63589	-0.6603	10	0.87932	D	0	-18.8046	18.4912	0.90848	0.0:0.0:1.0:0.0	.	78;78	A8K631;Q6PGQ7	.;BORA_HUMAN	P	78	ENSP00000375082:R78P	ENSP00000375082:R78P	R	+	2	0	BORA	72203499	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.603000	0.74145	2.730000	0.93505	0.650000	0.86243	CGT		0.353	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045245.3		NM_024808		5	95	0	0	0	0.001984	0	5	95		
LMO7	4008	broad.mit.edu	37	13	76397778	76397778	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr13:76397778A>G	ENST00000321797.8	+	13	2740	c.2019A>G	c.(2017-2019)gcA>gcG	p.A673A	LMO7_ENST00000465261.2_Silent_p.A673A|LMO7_ENST00000377534.3_Silent_p.A958A|LMO7_ENST00000526202.1_Silent_p.A523A|LMO7_ENST00000357063.3_Silent_p.A958A|LMO7_ENST00000341547.4_Silent_p.A624A			Q8WWI1	LMO7_HUMAN	LIM domain 7	958					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GCACCCCTGCACCAAGCCCGG	0.453																																						uc001vjv.2		NaN																	0				large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5						c.(2017-2019)GCA>GCG		LIM domain only 7 isoform 2							106.0	96.0	100.0					13																	76397778		2203	4300	6503	SO:0001819	synonymous_variant	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76397778A>G	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.2019A>G	13.37:g.76397778A>G						LMO7_uc010thv.1_Silent_p.A624A|LMO7_uc001vjt.1_Silent_p.A572A|LMO7_uc010thw.1_Silent_p.A523A|LMO7_uc001vjw.1_Silent_p.A579A	p.A673A	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	12	2779	+		Breast(118;0.0992)	958					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Silent	SNP	ENST00000321797.8	37	c.2019A>G		.	.	.	.	.	.	.	.	.	.	A	6.907	0.537012	0.13188	.	.	ENSG00000136153	ENST00000447038	.	.	.	5.42	-3.83	0.04269	.	.	.	.	.	T	0.17408	0.0418	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26018	-1.0115	4	.	.	.	1.9036	0.8317	0.01132	0.195:0.284:0.1547:0.3663	.	.	.	.	A	582	.	.	T	+	1	0	LMO7	75295779	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.037000	0.12164	-0.662000	0.05338	-0.343000	0.07986	ACC		0.453	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3		NM_005358		23	87	0	0	0	0.00278	0	23	87		
EDNRB	1910	broad.mit.edu	37	13	78477304	78477304	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr13:78477304G>A	ENST00000334286.5	-	3	1024	c.788C>T	c.(787-789)aCa>aTa	p.T263I	EDNRB_ENST00000446573.1_Missense_Mutation_p.T263I|EDNRB_ENST00000377211.4_Missense_Mutation_p.T353I	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	263					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	CATGAAAGCTGTCTTCTGAAC	0.403																																						uc001vko.2		NaN																	0					0						c.(787-789)ACA>ATA		endothelin receptor type B isoform 1 precursor	Bosentan(DB00559)						120.0	121.0	121.0					13																	78477304		2203	4300	6503	SO:0001583	missense	1910				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	g.chr13:78477304G>A	L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"""GPCR / Class A : Endothelin receptors"""	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.788C>T	13.37:g.78477304G>A	ENSP00000335311:p.Thr263Ile					EDNRB_uc001vkq.1_Missense_Mutation_p.T263I|uc001vkn.1_Intron|EDNRB_uc010aez.1_Missense_Mutation_p.T263I|EDNRB_uc001vkp.1_Missense_Mutation_p.T346I	p.T263I	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN		GBM - Glioblastoma multiforme(99;0.0933)	3	1046	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	263			Extracellular (Potential).		A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Missense_Mutation	SNP	ENST00000334286.5	37	c.788C>T	CCDS9461.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512401	0.44660	.	.	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	T;T;T	0.38401	1.14;1.14;1.14	5.62	5.62	0.85841	GPCR, rhodopsin-like superfamily (1);	0.214426	0.48286	D	0.000190	T	0.42653	0.1212	L	0.54863	1.705	0.39329	D	0.965383	P;P;B	0.35600	0.511;0.511;0.314	B;B;B	0.39027	0.111;0.288;0.248	T	0.40905	-0.9538	10	0.56958	D	0.05	-11.9913	19.6308	0.95700	0.0:0.0:1.0:0.0	.	263;353;263	P24530-2;P24530-3;P24530	.;.;EDNRB_HUMAN	I	353;263;263	ENSP00000366416:T353I;ENSP00000403401:T263I;ENSP00000335311:T263I	ENSP00000335311:T263I	T	-	2	0	EDNRB	77375305	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	3.688000	0.54699	2.629000	0.89072	0.650000	0.86243	ACA		0.403	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1				13	83	0	0	0	0.006122	0	13	83		
CLYBL	171425	broad.mit.edu	37	13	100425084	100425084	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr13:100425084G>A	ENST00000376360.1	+	2	96	c.69G>A	c.(67-69)gcG>gcA	p.A23A	CLYBL_ENST00000376354.1_Silent_p.A23A|CLYBL_ENST00000339105.4_Silent_p.A23A|CLYBL_ENST00000376355.3_Silent_p.A23A|CLYBL_ENST00000444838.2_Silent_p.A23A			Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	23						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|metal ion binding (GO:0046872)			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCAGGAAAGCGTCTCTAGCAG	0.393																																						uc001vok.2		NaN																	0					0						c.(67-69)GCG>GCA		citrate lyase beta like precursor							136.0	129.0	131.0					13																	100425084		2203	4300	6503	SO:0001819	synonymous_variant	171425				cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding	g.chr13:100425084G>A	AF428253	CCDS32002.1	13q32.3	2011-04-08			ENSG00000125246	ENSG00000125246			18355	protein-coding gene	gene with protein product		609686					Standard	XM_005254030		Approved	CLB	uc001vok.3	Q8N0X4	OTTHUMG00000017278	ENST00000376360.1:c.69G>A	13.37:g.100425084G>A						CLYBL_uc010tix.1_Silent_p.A23A|CLYBL_uc010tiy.1_Silent_p.A23A	p.A23A	NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN			2	83	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		23					Q5W0F7|Q8TDH8	Silent	SNP	ENST00000376360.1	37	c.69G>A	CCDS32002.1																																																																																				0.393	CLYBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045611.1				33	174	0	0	0	0.005524	0	33	174		
TNFSF13B	10673	broad.mit.edu	37	13	108922324	108922325	+	Missense_Mutation	DNP	TG	TG	GA			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr13:108922324_108922325TG>GA	ENST00000375887.4	+	1	259_260	c.81_82TG>GA	c.(79-84)tgTGtt>tgGAtt	p.27_28CV>WI	TNFSF13B_ENST00000430559.1_Missense_Mutation_p.27_28CV>WI|TNFSF13B_ENST00000542136.1_Missense_Mutation_p.27_28CV>WI	NM_006573.4	NP_006564.1	Q9Y275	TN13B_HUMAN	tumor necrosis factor (ligand) superfamily, member 13b	27					B cell costimulation (GO:0031296)|B cell homeostasis (GO:0001782)|cell proliferation (GO:0008283)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of germinal center formation (GO:0002636)|positive regulation of T cell proliferation (GO:0042102)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)		Belimumab(DB08879)	TGAAGGAGTGTGTTTCCATCCT	0.495																																						uc001vqr.2		NaN																	0					0						c.(79-84)TGTGTT>TGGATT		tumor necrosis factor superfamily, member 13b																																				SO:0001583	missense	10673				cell proliferation|immune response|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity|tumor necrosis factor receptor binding	g.chr13:108922324_108922325TG>GA	AF136293	CCDS9509.1, CCDS45067.1	13q32-q34	2008-05-14			ENSG00000102524	ENSG00000102524		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11929	protein-coding gene	gene with protein product		603969		TNFSF20		10331498, 10359578	Standard	NM_006573		Approved	BAFF, THANK, BLYS, TALL-1, TALL1, CD257	uc001vqr.3	Q9Y275	OTTHUMG00000017329	Exception_encountered	13.37:g.108922324_108922325delinsGA	ENSP00000365048:p.C27_V28delinsWI					TNFSF13B_uc010agj.2_Missense_Mutation_p.27_28CV>WI	p.27_28CV>WI	NM_006573	NP_006564	Q9Y275	TN13B_HUMAN	all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)		1	348_349	+	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		27_28			Cytoplasmic (Potential).		E0ADT7|Q6FHD6|Q7Z5J2	Missense_Mutation	DNP	ENST00000375887.4	37	c.81_82TG>GA	CCDS9509.1																																																																																				0.495	TNFSF13B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045739.3				12	219	0	0	0	0.004672	0	12	219		
MYO16	23026	broad.mit.edu	37	13	109672259	109672259	+	Splice_Site	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr13:109672259G>A	ENST00000357550.2	+	22	2771	c.2730G>A	c.(2728-2730)agG>agA	p.R910R	MYO16_ENST00000457511.2_Splice_Site_p.R422R|MYO16_ENST00000251041.5_Splice_Site_p.R910R|MYO16_ENST00000356711.2_Splice_Site_p.R910R	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ACGCAGGAAGGGTAAGTGGCC	0.448																																						uc001vqt.1		NaN																	0				ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(2728-2730)AGG>AGA		myosin heavy chain Myr 8							81.0	71.0	74.0					13																	109672259		2203	4300	6503	SO:0001630	splice_region_variant	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109672259G>A		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.2730+1G>A	13.37:g.109672259G>A						MYO16_uc010agk.1_Silent_p.R932R|MYO16_uc001vqu.1_Silent_p.R710R|MYO16_uc010tjh.1_Silent_p.R422R	p.R910R	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		23	2856	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		910			Myosin head-like 2.			Silent	SNP	ENST00000357550.2	37	c.2730G>A	CCDS32008.1																																																																																				0.448	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1		NM_015011	Silent	10	65	0	0	0	0.010729	0	10	65		
CHD8	57680	broad.mit.edu	37	14	21870182	21870182	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:21870182C>T	ENST00000557364.1	-	20	4259	c.3996G>A	c.(3994-3996)caG>caA	p.Q1332Q	CHD8_ENST00000399982.2_Silent_p.Q1332Q|CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Silent_p.Q1053Q			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1332					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTAACAAGATCTGGTCAATGT	0.413																																						uc001was.1		NaN																	0				ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10						c.(3157-3159)CAG>CAA		chromodomain helicase DNA binding protein 8							169.0	166.0	167.0					14																	21870182		2039	4226	6265	SO:0001819	synonymous_variant	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21870182C>T	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.3996G>A	14.37:g.21870182C>T						CHD8_uc001war.1_Silent_p.Q949Q|CHD8_uc001wav.1_Silent_p.Q495Q	p.Q1053Q	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	20	3253	-	all_cancers(95;0.00121)		1332					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Silent	SNP	ENST00000557364.1	37	c.3159G>A	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	C	5.958	0.360688	0.11296	.	.	ENSG00000100888	ENST00000555935	.	.	.	6.17	1.73	0.24493	.	.	.	.	.	T	0.55737	0.1939	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48127	-0.9062	4	.	.	.	-19.9342	8.2581	0.31769	0.0:0.5142:0.0:0.4858	.	.	.	.	N	558	.	.	D	-	1	0	CHD8	20940022	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	0.521000	0.22893	0.438000	0.26450	0.655000	0.94253	GAT		0.413	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1		NM_020920		12	156	0	0	0	0.001855	0	12	156		
CHD8	57680	broad.mit.edu	37	14	21870572	21870572	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:21870572C>G	ENST00000557364.1	-	19	4068	c.3805G>C	c.(3805-3807)Gat>Cat	p.D1269H	CHD8_ENST00000399982.2_Missense_Mutation_p.D1269H|CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Missense_Mutation_p.D990H			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1269	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CTGGCCTTATCAAACATCTCT	0.483																																						uc001was.1		NaN																	0				ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10						c.(2968-2970)GAT>CAT		chromodomain helicase DNA binding protein 8							90.0	90.0	90.0					14																	21870572		2203	4300	6503	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21870572C>G	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.3805G>C	14.37:g.21870572C>G	ENSP00000451601:p.Asp1269His					CHD8_uc001war.1_Missense_Mutation_p.D886H|CHD8_uc001wav.1_Missense_Mutation_p.D432H	p.D990H	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	19	3062	-	all_cancers(95;0.00121)		1269			Helicase C-terminal.		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.2968G>C	CCDS53885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.0|22.0	4.230928|4.230928	0.79688|0.79688	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364|ENST00000555935	T;T;T|.	0.76316|.	-1.01;-1.01;-1.01|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Helicase, C-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.56848|.	0.2013|.	N|N	0.25332|0.25332	0.735|0.735	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.997;0.999|.	T|.	0.47711|.	-0.9096|.	10|.	0.62326|.	D|.	0.03|.	-12.8797|-12.8797	18.6545|18.6545	0.91445|0.91445	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1269;990|.	Q9HCK8;Q9HCK8-2|.	CHD8_HUMAN;.|.	H|S	990;1269;989;1269|494	ENSP00000406288:D990H;ENSP00000382863:D1269H;ENSP00000451601:D1269H|.	ENSP00000262707:D989H|.	D|X	-|-	1|2	0|2	CHD8|CHD8	20940412|20940412	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.583000|7.583000	0.82559|0.82559	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAT|TGA		0.483	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1		NM_020920		6	116	0	0	0	0.001984	0	6	116		
DCAF11	80344	broad.mit.edu	37	14	24588376	24588376	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:24588376G>C	ENST00000446197.3	+	9	1529	c.802G>C	c.(802-804)Gtc>Ctc	p.V268L	DCAF11_ENST00000396941.4_Missense_Mutation_p.V242L|RP11-468E2.6_ENST00000558325.1_5'Flank|DCAF11_ENST00000559115.1_Missense_Mutation_p.V268L|DCAF11_ENST00000396936.1_Missense_Mutation_p.V168L	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	268					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)											TCGCTTTGCTGTCTTCTCCAT	0.463																																						uc001wlv.2		NaN																	0					0						c.(802-804)GTC>CTC		DDB1 and CUL4 associated factor 11 isoform 1							183.0	172.0	175.0					14																	24588376		2203	4300	6503	SO:0001583	missense	80344					CUL4 RING ubiquitin ligase complex	protein binding	g.chr14:24588376G>C	AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20258	protein-coding gene	gene with protein product		613317	"""WD repeat domain 23"""	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.802G>C	14.37:g.24588376G>C	ENSP00000415556:p.Val268Leu					DCAF11_uc001wlw.2_Missense_Mutation_p.V268L|DCAF11_uc001wlz.2_Missense_Mutation_p.V168L|DCAF11_uc001wly.2_Missense_Mutation_p.V224L|DCAF11_uc001wme.2_Missense_Mutation_p.V228L|DCAF11_uc010tny.1_Missense_Mutation_p.V135L|DCAF11_uc001wmd.2_Missense_Mutation_p.V268L|DCAF11_uc001wmc.2_Missense_Mutation_p.V168L|DCAF11_uc001wmb.3_Missense_Mutation_p.V242L|DCAF11_uc001wma.3_Missense_Mutation_p.V268L	p.V268L	NM_001163484	NP_001156956	Q8TEB1	DCA11_HUMAN			9	1082	+			268			WD 3.		B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Missense_Mutation	SNP	ENST00000446197.3	37	c.802G>C	CCDS9610.1	.	.	.	.	.	.	.	.	.	.	g	22.7	4.321578	0.81580	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941	T;T	0.01933	4.55;4.55	5.53	5.53	0.82687	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	0.07143	0.0181	M	0.82132	2.575	0.80722	D	1	P;P;P;P;P	0.49961	0.93;0.794;0.513;0.765;0.69	P;B;B;B;B	0.45138	0.471;0.406;0.425;0.177;0.23	T	0.01940	-1.1243	10	0.56958	D	0.05	-0.1851	17.0059	0.86393	0.0:0.0:1.0:0.0	.	191;242;168;268;268	Q59GN6;Q8TEB1-2;Q8TEB1-3;A8K9T2;Q8TEB1	.;.;.;.;DCA11_HUMAN	L	268;242;168;242	ENSP00000380142:V168L;ENSP00000380146:V242L	ENSP00000323680:V268L	V	+	1	0	DCAF11	23658216	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.784000	0.85713	2.885000	0.99019	0.643000	0.83706	GTC		0.463	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4				17	155	0	0	0	0.00278	0	17	155		
MAPK1IP1L	93487	broad.mit.edu	37	14	55529993	55529993	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:55529993C>T	ENST00000395468.4	+	3	853	c.676C>T	c.(676-678)Caa>Taa	p.Q226*		NM_144578.3	NP_653179.1	Q8NDC0	MISSL_HUMAN	mitogen-activated protein kinase 1 interacting protein 1-like	226	Pro-rich.									endometrium(2)|large_intestine(1)|lung(3)	6						TAATCCTTTCCAAGTGCCTTC	0.512																																						uc001xbq.1		NaN																	0					0						c.(676-678)CAA>TAA		MAPK-interacting and spindle-stabilizing							78.0	71.0	73.0					14																	55529993		2203	4300	6503	SO:0001587	stop_gained	93487							g.chr14:55529993C>T	AK025580	CCDS32085.1	14q22.1	2008-01-30	2008-01-30	2008-01-16		ENSG00000168175			19840	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 32"", ""mitogen activated protein kinase 1 interacting protein 1-like"""	C14orf32		12011110	Standard	NM_144578		Approved		uc001xbq.1	Q8NDC0		ENST00000395468.4:c.676C>T	14.37:g.55529993C>T	ENSP00000378851:p.Gln226*						p.Q226*	NM_144578	NP_653179	Q8NDC0	MISSL_HUMAN			3	840	+			226			Pro-rich.		B2RDD8|Q96BG5	Nonsense_Mutation	SNP	ENST00000395468.4	37	c.676C>T	CCDS32085.1	.	.	.	.	.	.	.	.	.	.	.	36	5.638007	0.96693	.	.	ENSG00000168175	ENST00000395468	.	.	.	5.05	5.05	0.67936	.	0.000000	0.52532	D	0.000066	.	.	.	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-3.7559	16.7773	0.85555	0.0:1.0:0.0:0.0	.	.	.	.	X	226	.	ENSP00000378851:Q226X	Q	+	1	0	MAPK1IP1L	54599746	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.842000	0.69417	2.636000	0.89361	0.655000	0.94253	CAA		0.512	MAPK1IP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411302.2		NM_144578		9	102	0	0	0	0.006214	0	9	102		
KCNH5	27133	broad.mit.edu	37	14	63174336	63174336	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:63174336G>C	ENST00000322893.7	-	11	3125	c.2857C>G	c.(2857-2859)Ccc>Gcc	p.P953A	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	953					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TGGGATTTGGGAGATGAGGCC	0.463																																						uc001xfx.2		NaN																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(2857-2859)CCC>GCC		potassium voltage-gated channel, subfamily H,							128.0	141.0	137.0					14																	63174336		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63174336G>C	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2857C>G	14.37:g.63174336G>C	ENSP00000321427:p.Pro953Ala					KCNH5_uc001xfy.2_3'UTR	p.P953A	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	11	2908	-			953			Cytoplasmic (Potential).		C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.2857C>G	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	7.778	0.708884	0.15239	.	.	ENSG00000140015	ENST00000322893	D	0.99042	-5.36	5.51	5.51	0.81932	.	0.226085	0.39083	N	0.001479	D	0.95981	0.8691	N	0.16656	0.425	0.80722	D	1	P	0.34522	0.455	B	0.25884	0.064	D	0.95301	0.8403	10	0.20519	T	0.43	.	19.7844	0.96430	0.0:0.0:1.0:0.0	.	953	Q8NCM2	KCNH5_HUMAN	A	953	ENSP00000321427:P953A	ENSP00000321427:P953A	P	-	1	0	KCNH5	62244089	1.000000	0.71417	1.000000	0.80357	0.332000	0.28634	3.246000	0.51414	2.754000	0.94517	0.549000	0.68633	CCC		0.463	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1		NM_139318		19	211	0	0	0	0.010504	0	19	211		
KCNH5	27133	broad.mit.edu	37	14	63174651	63174651	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:63174651C>G	ENST00000322893.7	-	11	2810	c.2542G>C	c.(2542-2544)Gat>Cat	p.D848H	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	848					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTCTCTGAATCACTGCTCTTG	0.438																																						uc001xfx.2		NaN																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(2542-2544)GAT>CAT		potassium voltage-gated channel, subfamily H,							161.0	149.0	153.0					14																	63174651		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63174651C>G	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2542G>C	14.37:g.63174651C>G	ENSP00000321427:p.Asp848His					KCNH5_uc001xfy.2_3'UTR	p.D848H	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	11	2593	-			848			Cytoplasmic (Potential).		C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.2542G>C	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.523569	0.27299	.	.	ENSG00000140015	ENST00000322893	D	0.98958	-5.27	5.92	5.92	0.95590	.	0.077522	0.49916	D	0.000122	D	0.95749	0.8617	N	0.08118	0	0.80722	D	1	P	0.36438	0.553	B	0.38712	0.28	D	0.94583	0.7781	10	0.27082	T	0.32	.	20.4025	0.99000	0.0:1.0:0.0:0.0	.	848	Q8NCM2	KCNH5_HUMAN	H	848	ENSP00000321427:D848H	ENSP00000321427:D848H	D	-	1	0	KCNH5	62244404	0.981000	0.34729	0.957000	0.39632	0.700000	0.40528	2.549000	0.45803	2.828000	0.97474	0.650000	0.86243	GAT		0.438	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1		NM_139318		12	117	0	0	0	0.003163	0	12	117		
FUT8	2530	broad.mit.edu	37	14	66208906	66208906	+	Missense_Mutation	SNP	G	G	C	rs368942174		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:66208906G>C	ENST00000360689.5	+	11	3233	c.1506G>C	c.(1504-1506)caG>caC	p.Q502H	FUT8_ENST00000417683.1_Missense_Mutation_p.Q96H|FUT8_ENST00000557164.1_Missense_Mutation_p.Q339H|FUT8_ENST00000394585.1_Missense_Mutation_p.Q502H|FUT8_ENST00000358307.2_Missense_Mutation_p.Q373H|FUT8_ENST00000394586.2_Missense_Mutation_p.Q502H	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	502	SH3.				cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TTGGGGGCCAGAATGCCCACA	0.433																																						uc001xin.2		NaN																	0				ovary(1)	1						c.(1504-1506)CAG>CAC		fucosyltransferase 8 isoform a							130.0	130.0	130.0					14																	66208906		2203	4300	6503	SO:0001583	missense	2530				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	g.chr14:66208906G>C	AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"""Fucosyltransferases"""	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.1506G>C	14.37:g.66208906G>C	ENSP00000353910:p.Gln502His					FUT8_uc001xio.2_Missense_Mutation_p.Q502H|FUT8_uc010tsp.1_Missense_Mutation_p.Q339H|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Missense_Mutation_p.Q502H|FUT8_uc001xiq.2_Missense_Mutation_p.Q373H|FUT8_uc001xis.2_Missense_Mutation_p.Q96H	p.Q502H	NM_178155	NP_835368	Q9BYC5	FUT8_HUMAN		all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)	11	2703	+			502			SH3.|Lumenal (Potential).		B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Missense_Mutation	SNP	ENST00000360689.5	37	c.1506G>C	CCDS9775.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620643	0.66787	.	.	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000557164;ENST00000394585;ENST00000358307;ENST00000417683	T;T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06;0.06	6.17	-5.41	0.02648	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	T	0.78362	0.4271	M	0.85197	2.74	0.80722	D	1	D;D;D	0.71674	0.97;0.998;0.998	P;D;D	0.79108	0.533;0.988;0.992	T	0.81595	-0.0861	10	0.62326	D	0.03	-15.3216	19.8497	0.96734	0.1584:0.0:0.8416:0.0	.	96;373;502	Q8IUA5;G3XAD2;Q9BYC5	.;.;FUT8_HUMAN	H	502;502;339;502;373;96	ENSP00000353910:Q502H;ENSP00000378087:Q502H;ENSP00000452433:Q339H;ENSP00000378086:Q502H;ENSP00000351057:Q373H;ENSP00000396770:Q96H	ENSP00000351057:Q373H	Q	+	3	2	FUT8	65278659	0.993000	0.37304	0.923000	0.36655	0.982000	0.71751	0.283000	0.18846	-1.014000	0.03379	-0.345000	0.07892	CAG		0.433	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1		NM_004480		8	172	0	0	0	0.004482	0	8	172		
PLEKHH1	57475	broad.mit.edu	37	14	68040539	68040539	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:68040539C>T	ENST00000329153.5	+	13	1993	c.1861C>T	c.(1861-1863)Caa>Taa	p.Q621*		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	621	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CCGGAAACCTCAAGGCCAAGT	0.502																																						uc001xjl.1		NaN																	0					0						c.(1861-1863)CAA>TAA		pleckstrin homology domain containing, family H							86.0	84.0	85.0					14																	68040539		1927	4143	6070	SO:0001587	stop_gained	57475					cytoskeleton	binding	g.chr14:68040539C>T	AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"""Pleckstrin homology (PH) domain containing"""	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.1861C>T	14.37:g.68040539C>T	ENSP00000330278:p.Gln621*					PLEKHH1_uc010tsw.1_Nonsense_Mutation_p.Q189*|PLEKHH1_uc001xjm.1_Nonsense_Mutation_p.Q136*|PLEKHH1_uc001xjn.1_Nonsense_Mutation_p.Q136*	p.Q621*	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN		all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)	13	2003	+			621			PH 1.		A6H8X6|Q6PJL4|Q6ZWC7	Nonsense_Mutation	SNP	ENST00000329153.5	37	c.1861C>T	CCDS45128.1	.	.	.	.	.	.	.	.	.	.	C	40	8.308130	0.98752	.	.	ENSG00000054690	ENST00000329153	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	18.8052	0.92034	0.0:1.0:0.0:0.0	.	.	.	.	X	621	.	ENSP00000330278:Q621X	Q	+	1	0	PLEKHH1	67110292	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.625000	0.83145	2.676000	0.91093	0.561000	0.74099	CAA		0.502	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412730.3		XM_031054		7	131	0	0	0	0.006214	0	7	131		
PLEKHH1	57475	broad.mit.edu	37	14	68040602	68040602	+	Missense_Mutation	SNP	C	C	G	rs371147512		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:68040602C>G	ENST00000329153.5	+	13	2056	c.1924C>G	c.(1924-1926)Cag>Gag	p.Q642E		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	642	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		ACAGACGTTTCAGGTGAGCAC	0.488																																						uc001xjl.1		NaN																	0					0						c.(1924-1926)CAG>GAG		pleckstrin homology domain containing, family H							65.0	64.0	64.0					14																	68040602		1928	4132	6060	SO:0001583	missense	57475					cytoskeleton	binding	g.chr14:68040602C>G	AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"""Pleckstrin homology (PH) domain containing"""	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.1924C>G	14.37:g.68040602C>G	ENSP00000330278:p.Gln642Glu					PLEKHH1_uc010tsw.1_Missense_Mutation_p.Q210E|PLEKHH1_uc001xjm.1_Missense_Mutation_p.Q157E|PLEKHH1_uc001xjn.1_Missense_Mutation_p.Q157E	p.Q642E	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN		all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)	13	2066	+			642			PH 1.		A6H8X6|Q6PJL4|Q6ZWC7	Missense_Mutation	SNP	ENST00000329153.5	37	c.1924C>G	CCDS45128.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.437507	0.62955	.	.	ENSG00000054690	ENST00000329153	T	0.10382	2.88	4.84	4.84	0.62591	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.06096	0.0158	N	0.03000	-0.44	0.80722	D	1	B;B	0.24768	0.111;0.041	B;B	0.30943	0.039;0.122	T	0.45056	-0.9287	10	0.13108	T	0.6	.	18.5052	0.90894	0.0:1.0:0.0:0.0	.	157;642	Q9ULM0-2;Q9ULM0	.;PKHH1_HUMAN	E	642	ENSP00000330278:Q642E	ENSP00000330278:Q642E	Q	+	1	0	PLEKHH1	67110355	1.000000	0.71417	1.000000	0.80357	0.567000	0.35839	7.583000	0.82559	2.676000	0.91093	0.561000	0.74099	CAG		0.488	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412730.3		XM_031054		7	93	0	0	0	0.004482	0	7	93		
ANGEL1	23357	broad.mit.edu	37	14	77255678	77255678	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:77255678G>A	ENST00000251089.2	-	10	2018	c.1906C>T	c.(1906-1908)Ctc>Ttc	p.L636F	ANGEL1_ENST00000557179.1_Missense_Mutation_p.L201F|RP11-488C13.5_ENST00000556072.1_lincRNA	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	636										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		TCTTCAGAGAGAAGGGAGAGA	0.562																																						uc001xsv.2		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1906-1908)CTC>TTC		angel homolog 1							116.0	114.0	114.0					14																	77255678		2203	4300	6503	SO:0001583	missense	23357							g.chr14:77255678G>A	AF111169	CCDS9852.1	14q24.3	2014-06-17		2005-08-04	ENSG00000013523	ENSG00000013523			19961	protein-coding gene	gene with protein product				KIAA0759		11943475	Standard	NM_015305		Approved	Ccr4e	uc001xsv.3	Q9UNK9	OTTHUMG00000171494	ENST00000251089.2:c.1906C>T	14.37:g.77255678G>A	ENSP00000251089:p.Leu636Phe					uc001xsu.1_5'Flank|ANGEL1_uc010tvf.1_Intron	p.L636F	NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)	10	2019	-			636					B4DWL7|O94859|Q8NCS9	Missense_Mutation	SNP	ENST00000251089.2	37	c.1906C>T	CCDS9852.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.606285	0.66445	.	.	ENSG00000013523	ENST00000251089;ENST00000557179	T;T	0.54071	1.54;0.59	5.78	5.78	0.91487	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	T	0.70962	0.3284	M	0.75150	2.29	0.80722	D	1	P	0.51240	0.943	P	0.58266	0.836	T	0.70784	-0.4778	10	0.51188	T	0.08	-6.8653	19.6243	0.95671	0.0:0.0:1.0:0.0	.	636	Q9UNK9	ANGE1_HUMAN	F	636;201	ENSP00000251089:L636F;ENSP00000451534:L201F	ENSP00000251089:L636F	L	-	1	0	ANGEL1	76325431	1.000000	0.71417	1.000000	0.80357	0.404000	0.30871	7.478000	0.81082	2.724000	0.93272	0.563000	0.77884	CTC		0.562	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413712.2		NM_015305		14	169	0	0	0	0.007413	0	14	169		
STON2	85439	broad.mit.edu	37	14	81743987	81743987	+	Silent	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:81743987T>C	ENST00000267540.2	-	4	1868	c.1668A>G	c.(1666-1668)tcA>tcG	p.S556S	STON2_ENST00000556280.1_5'Flank|STON2_ENST00000555447.1_Silent_p.S556S	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	556	SHD. {ECO:0000255|PROSITE- ProRule:PRU00403}.				hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TCAAGTCCATTGACAACACTG	0.478																																						uc010tvu.1		NaN																	0				skin(3)|pancreas(2)	5						c.(1666-1668)TCA>TCG		stonin 2							94.0	86.0	89.0					14																	81743987		2203	4300	6503	SO:0001819	synonymous_variant	85439				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	g.chr14:81743987T>C	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.1668A>G	14.37:g.81743987T>C						STON2_uc001xvk.1_Silent_p.S556S|STON2_uc010tvt.1_Silent_p.S353S	p.S556S	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	4	1869	-			556			SHD.		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Silent	SNP	ENST00000267540.2	37	c.1668A>G	CCDS9875.1																																																																																				0.478	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1		NM_033104		6	43	0	0	0	0.001168	0	6	43		
SEL1L	6400	broad.mit.edu	37	14	81950697	81950697	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:81950697C>A	ENST00000336735.4	-	19	2034	c.1918G>T	c.(1918-1920)Ggg>Tgg	p.G640W		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	640	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		GTGCCAAACCCATAGAAATGG	0.368																																						uc010tvv.1		NaN																	0				ovary(1)	1						c.(1918-1920)GGG>TGG		sel-1 suppressor of lin-12-like precursor							129.0	129.0	129.0					14																	81950697		2203	4300	6503	SO:0001583	missense	6400				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr14:81950697C>A		CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"""sel-1 suppressor of lin-12-like 1 (C. elegans)"""	602329	"""sel-1 (suppressor of lin-12, C.elegans)-like"""			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.1918G>T	14.37:g.81950697C>A	ENSP00000337053:p.Gly640Trp						p.G640W	NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0299)	19	2035	-			640			Lumenal (Potential).|Interaction with ERLEC1, OS9 and SYVN1.|Sel1-like 10.		Q6UWT6|Q9P1T9|Q9UHK7	Missense_Mutation	SNP	ENST00000336735.4	37	c.1918G>T	CCDS9876.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939471	0.92526	.	.	ENSG00000071537	ENST00000336735;ENST00000261258	T	0.71103	-0.54	5.92	5.92	0.95590	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.88797	0.6534	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90369	0.4379	10	0.87932	D	0	.	20.3167	0.98654	0.0:1.0:0.0:0.0	.	640	Q9UBV2	SE1L1_HUMAN	W	640;1	ENSP00000337053:G640W	ENSP00000261258:G1W	G	-	1	0	SEL1L	81020450	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.379000	0.79691	2.809000	0.96659	0.557000	0.71058	GGG		0.368	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413325.1		NM_005065		18	161	1	0	2.4624e-09	0.008871	2.65495e-09	18	161		
SPATA7	55812	broad.mit.edu	37	14	88883148	88883148	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:88883148A>G	ENST00000393545.4	+	5	621	c.332A>G	c.(331-333)tAt>tGt	p.Y111C	SPATA7_ENST00000556553.1_Missense_Mutation_p.Y79C|SPATA7_ENST00000045347.7_Missense_Mutation_p.Y111C|SPATA7_ENST00000356583.5_Missense_Mutation_p.Y79C	NM_018418.4	NP_060888.2	Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	111					response to stimulus (GO:0050896)|visual perception (GO:0007601)					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						CGAGCCAATTATAAAAATAAT	0.294																																						uc001xwq.2		NaN																	0				ovary(1)	1						c.(331-333)TAT>TGT		spermatogenesis-associated protein 7 isoform a							46.0	51.0	49.0					14																	88883148		2201	4292	6493	SO:0001583	missense	55812				response to stimulus|visual perception			g.chr14:88883148A>G	AF144487	CCDS9883.1, CCDS32132.1	14q31.3	2011-02-17				ENSG00000042317			20423	protein-coding gene	gene with protein product		609868	"""Leber congenital amaurosis 3"""	LCA3		9799089, 19268277	Standard	NM_018418		Approved	HSD3	uc001xwq.3	Q9P0W8		ENST00000393545.4:c.332A>G	14.37:g.88883148A>G	ENSP00000377176:p.Tyr111Cys					SPATA7_uc001xwr.2_Missense_Mutation_p.Y79C|SPATA7_uc001xws.2_Missense_Mutation_p.Y47C|SPATA7_uc001xwt.2_Missense_Mutation_p.Y5C	p.Y111C	NM_018418	NP_060888	Q9P0W8	SPAT7_HUMAN			5	483	+			111					Q5BKY5|Q8WX30|Q96HF3|Q9H0X0|Q9P0W7	Missense_Mutation	SNP	ENST00000393545.4	37	c.332A>G	CCDS9883.1	.	.	.	.	.	.	.	.	.	.	A	11.02	1.515156	0.27123	.	.	ENSG00000042317	ENST00000556553;ENST00000393545;ENST00000356583;ENST00000555401;ENST00000553885;ENST00000045347	T;T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29;2.29	5.12	3.19	0.36642	.	0.429922	0.22196	N	0.063314	T	0.10895	0.0266	N	0.08118	0	0.22511	N	0.999035	B;B;B	0.33512	0.007;0.114;0.415	B;B;B	0.37346	0.002;0.128;0.247	T	0.24440	-1.0160	10	0.72032	D	0.01	-3.9329	12.3567	0.55180	0.3016:0.6984:0.0:0.0	.	79;79;111	A8K3L6;Q9P0W8-2;Q9P0W8	.;.;SPAT7_HUMAN	C	79;111;79;54;97;111	ENSP00000451128:Y79C;ENSP00000377176:Y111C;ENSP00000348991:Y79C;ENSP00000452435:Y54C;ENSP00000450606:Y97C;ENSP00000045347:Y111C	ENSP00000045347:Y111C	Y	+	2	0	SPATA7	87952901	1.000000	0.71417	0.997000	0.53966	0.648000	0.38561	1.868000	0.39509	1.267000	0.44247	-0.132000	0.14878	TAT		0.294	SPATA7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410172.1				7	76	0	0	0	0.004482	0	7	76		
ZC3H14	79882	broad.mit.edu	37	14	89044449	89044449	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:89044449A>G	ENST00000251038.5	+	9	1469	c.1244A>G	c.(1243-1245)gAg>gGg	p.E415G	ZC3H14_ENST00000557607.1_Missense_Mutation_p.E260G|ZC3H14_ENST00000555755.1_Missense_Mutation_p.E415G|ZC3H14_ENST00000359301.3_Missense_Mutation_p.E381G|ZC3H14_ENST00000393514.5_Missense_Mutation_p.E415G|ZC3H14_ENST00000302216.8_Missense_Mutation_p.E415G|ZC3H14_ENST00000557605.1_3'UTR|ZC3H14_ENST00000556945.1_Missense_Mutation_p.E415G|ZC3H14_ENST00000336693.4_Missense_Mutation_p.E381G	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	415						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						ATTAAAGAAGAGGAAACAAAA	0.388																																						uc001xww.2		NaN																	0				ovary(2)|skin(1)	3						c.(1243-1245)GAG>GGG		zinc finger CCCH-type containing 14 isoform 1							64.0	68.0	67.0					14																	89044449		2203	4300	6503	SO:0001583	missense	79882					cytoplasm|cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding	g.chr14:89044449A>G	AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"""Zinc fingers, CCCH-type domain containing"""	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.1244A>G	14.37:g.89044449A>G	ENSP00000251038:p.Glu415Gly					ZC3H14_uc010twd.1_Missense_Mutation_p.E415G|ZC3H14_uc010twe.1_Missense_Mutation_p.E415G|ZC3H14_uc001xwx.2_Missense_Mutation_p.E415G|ZC3H14_uc010twf.1_Missense_Mutation_p.E260G|ZC3H14_uc001xwy.2_Missense_Mutation_p.E381G|ZC3H14_uc010twg.1_Missense_Mutation_p.E260G|ZC3H14_uc001xxa.2_5'UTR	p.E415G	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN			9	1469	+			415					A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Missense_Mutation	SNP	ENST00000251038.5	37	c.1244A>G	CCDS32133.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.5|20.5	3.997496|3.997496	0.74818|0.74818	.|.	.|.	ENSG00000100722|ENSG00000100722	ENST00000251038;ENST00000393530;ENST00000353091;ENST00000359301;ENST00000302216;ENST00000380684;ENST00000556945;ENST00000557607;ENST00000555755;ENST00000393514;ENST00000336693|ENST00000556000	.|.	.|.	.|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.249624|.	0.35262|.	N|.	0.003324|.	T|T	0.69833|0.69833	0.3155|0.3155	L|L	0.60455|0.60455	1.87|1.87	0.40021|0.40021	D|D	0.975413|0.975413	P;P;B;B;B;B|.	0.51933|.	0.949;0.949;0.119;0.227;0.13;0.116|.	B;B;B;B;B;B|.	0.42495|.	0.389;0.389;0.107;0.068;0.069;0.068|.	T|T	0.69942|0.69942	-0.5008|-0.5008	9|5	0.72032|.	D|.	0.01|.	-13.6584|-13.6584	14.4924|14.4924	0.67660|0.67660	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	415;396;415;415;415;415|.	G3V256;F8W848;G3V5R4;Q6PJT7-2;Q6PJT7-3;Q6PJT7|.	.;.;.;.;.;ZC3HE_HUMAN|.	G|G	415;415;415;381;415;396;415;260;415;415;381|331	.|.	ENSP00000251038:E415G|.	E|R	+|+	2|1	0|2	ZC3H14|ZC3H14	88114202|88114202	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.924000|0.924000	0.55760|0.55760	5.993000|5.993000	0.70616|0.70616	2.218000|2.218000	0.71995|0.71995	0.528000|0.528000	0.53228|0.53228	GAG|AGG		0.388	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1		NM_024824		6	107	0	0	0	0.00308	0	6	107		
PAPOLA	10914	broad.mit.edu	37	14	96998956	96998956	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:96998956T>C	ENST00000216277.8	+	9	1026	c.806T>C	c.(805-807)gTa>gCa	p.V269A	PAPOLA_ENST00000392990.2_Missense_Mutation_p.V269A|PAPOLA_ENST00000557320.1_Missense_Mutation_p.V269A	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	269					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		TCAACTCTTGTACATAAATTT	0.313																																					NSCLC(19;254 734 11908 35501 39234)	uc001yfq.2		NaN																	0					0						c.(805-807)GTA>GCA		poly(A) polymerase alpha							92.0	92.0	92.0					14																	96998956		2203	4300	6503	SO:0001583	missense	10914				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr14:96998956T>C	X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.806T>C	14.37:g.96998956T>C	ENSP00000216277:p.Val269Ala					PAPOLA_uc001yfp.2_Missense_Mutation_p.V269A|PAPOLA_uc001yfr.2_Missense_Mutation_p.V269A|PAPOLA_uc010twv.1_Missense_Mutation_p.V269A|PAPOLA_uc010avp.2_Missense_Mutation_p.V19A	p.V269A	NM_032632	NP_116021	P51003	PAPOA_HUMAN		COAD - Colon adenocarcinoma(157;0.213)	9	1016	+		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)	269					Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Missense_Mutation	SNP	ENST00000216277.8	37	c.806T>C	CCDS9946.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.5|25.5	4.643914|4.643914	0.87859|0.87859	.|.	.|.	ENSG00000090060|ENSG00000090060	ENST00000216277;ENST00000557320;ENST00000546064;ENST00000392990;ENST00000555626|ENST00000553461	.|.	.|.	.|.	5.36|5.36	5.36|5.36	0.76844|0.76844	Poly(A) polymerase, central domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85265|0.85265	0.5657|0.5657	M|M	0.92923|0.92923	3.36|3.36	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.76494|.	0.998;0.997;0.999;0.992|.	D;D;D;D|.	0.79784|.	0.98;0.988;0.993;0.947|.	D|D	0.89117|0.89117	0.3500|0.3500	9|5	0.87932|.	D|.	0|.	.|.	15.6534|15.6534	0.77115|0.77115	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	285;285;269;269|.	F5H5I8;B4DYF4;P51003;P51003-2|.	.;.;PAPOA_HUMAN;.|.	A|H	269;269;285;269;19|155	.|.	ENSP00000216277:V269A|.	V|Y	+|+	2|1	0|0	PAPOLA|PAPOLA	96068709|96068709	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.917000|7.917000	0.87498|0.87498	2.175000|2.175000	0.68902|0.68902	0.528000|0.528000	0.53228|0.53228	GTA|TAC		0.313	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2				5	61	0	0	0	0.001984	0	5	61		
TECPR2	9895	broad.mit.edu	37	14	102904529	102904529	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:102904529A>G	ENST00000359520.7	+	10	2791	c.2565A>G	c.(2563-2565)gcA>gcG	p.A855A	TECPR2_ENST00000558678.1_Silent_p.A855A	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	855					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						AGCAGGTGGCAGTCTCGCCCT	0.672											OREG0022547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ylw.1		NaN																	0				lung(1)|central_nervous_system(1)|skin(1)	3						c.(2563-2565)GCA>GCG		tectonin beta-propeller repeat containing 2							40.0	40.0	40.0					14																	102904529		2203	4298	6501	SO:0001819	synonymous_variant	9895						protein binding	g.chr14:102904529A>G	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.2565A>G	14.37:g.102904529A>G			OREG0022547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1370	TECPR2_uc010awl.2_Silent_p.A855A|TECPR2_uc010txx.1_Silent_p.A18A	p.A855A	NM_014844	NP_055659	O15040	TCPR2_HUMAN			10	2713	+			855					A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Silent	SNP	ENST00000359520.7	37	c.2565A>G	CCDS32162.1																																																																																				0.672	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2		NM_014844		9	54	0	0	0	0.004482	0	9	54		
AMN	81693	broad.mit.edu	37	14	103390133	103390133	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:103390133C>A	ENST00000299155.5	+	2	162	c.129C>A	c.(127-129)tgC>tgA	p.C43*		NM_030943.3	NP_112205.2	Q9BXJ7	AMNLS_HUMAN	amnion associated transmembrane protein	43					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|excretion (GO:0007588)|Golgi to plasma membrane protein transport (GO:0043001)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGACCCCGTGCGCCGGCGGCG	0.716																																						uc001ymg.3		NaN																	0					0						c.(127-129)TGC>TGA		amnionless protein precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						28.0	35.0	33.0					14																	103390133		2202	4298	6500	SO:0001587	stop_gained	81693				lipid metabolic process|lipoprotein metabolic process|multicellular organismal development	integral to membrane|plasma membrane		g.chr14:103390133C>A	AF328788	CCDS9977.1	14q32.32	2014-09-17	2012-12-07		ENSG00000166126	ENSG00000166126			14604	protein-coding gene	gene with protein product		605799	"""amnionless homolog (mouse)"""			11279523	Standard	NM_030943		Approved	amnionless	uc001ymg.4	Q9BXJ7		ENST00000299155.5:c.129C>A	14.37:g.103390133C>A	ENSP00000299155:p.Cys43*					AMN_uc001ymh.3_5'UTR	p.C43*	NM_030943	NP_112205	Q9BXJ7	AMNLS_HUMAN		Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	2	162	+			43			Extracellular (Potential).		Q6UX83	Nonsense_Mutation	SNP	ENST00000299155.5	37	c.129C>A	CCDS9977.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.037841	0.35989	.	.	ENSG00000166126	ENST00000299155	.	.	.	3.27	-0.905	0.10527	.	0.054677	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.9947	0.19487	0.0:0.436:0.0:0.564	.	.	.	.	X	43	.	ENSP00000299155:C43X	C	+	3	2	AMN	102459886	0.000000	0.05858	0.719000	0.30619	0.018000	0.09664	-1.388000	0.02533	-0.084000	0.12595	-0.350000	0.07774	TGC		0.716	AMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415704.1				10	48	1	0	2.17888e-05	0.006214	2.25829e-05	10	48		
NIPA2	81614	broad.mit.edu	37	15	23003016	23003016	+	IGR	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:23003016C>G	ENST00000337451.3	-	0	3233				CYFIP1_ENST00000313077.7_Missense_Mutation_p.I1246M|CYFIP1_ENST00000435939.2_Missense_Mutation_p.I815M|CYFIP1_ENST00000560848.1_Missense_Mutation_p.I1246M	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2							early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		AGCCGCCCATCCACCAGTCCC	0.552																																						uc001yus.2		NaN																	0				ovary(4)|pancreas(3)|liver(1)|skin(1)	9						c.(3736-3738)ATC>ATG		cytoplasmic FMR1 interacting protein 1 isoform							39.0	36.0	37.0					15																	23003016		2203	4300	6503	SO:0001628	intergenic_variant	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:23003016C>G	AY732242	CCDS73693.1, CCDS73694.1	15q11.2	2008-02-05			ENSG00000140157	ENSG00000140157			17044	protein-coding gene	gene with protein product		608146				14508708	Standard	NM_001008860		Approved		uc001yuz.3	Q8N8Q9	OTTHUMG00000129101		15.37:g.23003016C>G						CYFIP1_uc001yut.2_Missense_Mutation_p.I1246M|CYFIP1_uc001yuu.2_Missense_Mutation_p.I815M|CYFIP1_uc001yuv.2_Missense_Mutation_p.I440M	p.I1246M	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	31	3842	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	1246					F8W7Y8|Q96F03|Q9BVS2	Missense_Mutation	SNP	ENST00000337451.3	37	c.3738C>G	CCDS10010.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557125	0.65425	.	.	ENSG00000068793	ENST00000313077;ENST00000412127;ENST00000435939	T;T	0.35605	2.09;1.3	6.17	3.18	0.36537	.	0.000000	0.64402	D	0.000001	T	0.33962	0.0881	M	0.64997	1.995	0.58432	D	0.999998	B;P	0.42456	0.156;0.78	B;B	0.43386	0.089;0.418	T	0.12656	-1.0539	10	0.51188	T	0.08	-34.844	3.7975	0.08746	0.3028:0.467:0.0:0.2302	.	815;1246	Q7L576-2;Q7L576	.;CYFP1_HUMAN	M	1246;1248;815	ENSP00000324549:I1246M;ENSP00000405956:I815M	ENSP00000324549:I1246M	I	+	3	3	CYFIP1	20554457	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.704000	0.25661	0.923000	0.37045	0.655000	0.94253	ATC		0.552	NIPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251137.1		NM_030922		5	38	0	0	0	0.000602	0	5	38		
NUTM1	256646	broad.mit.edu	37	15	34640674	34640674	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:34640674C>T	ENST00000333756.4	+	2	676	c.521C>T	c.(520-522)cCc>cTc	p.P174L	NUTM1_ENST00000537011.1_Missense_Mutation_p.P202L|NUTM1_ENST00000438749.3_Missense_Mutation_p.P192L	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	174	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)											CCCATTGTGCCCCTGGAAAAA	0.597																																						uc001zif.2		NaN								T					BRD3|BRD4		lethal midline carcinoma	BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	0				midline_organs(25)|ovary(2)|lung(2)|skin(1)	30						c.(520-522)CCC>CTC		nuclear protein in testis							33.0	32.0	32.0					15																	34640674		2201	4298	6499	SO:0001583	missense	256646					cytoplasm|nucleus		g.chr15:34640674C>T	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.521C>T	15.37:g.34640674C>T	ENSP00000329448:p.Pro174Leu					C15orf55_uc010ucc.1_Missense_Mutation_p.P202L|C15orf55_uc010ucd.1_Missense_Mutation_p.P192L	p.P174L	NM_175741	NP_786883	Q86Y26	NUT_HUMAN		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)	2	676	+		all_lung(180;2.78e-08)	174			Pro-rich.		B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	c.521C>T	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	C	8.293	0.818142	0.16607	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000354999;ENST00000333756	T;T;T	0.24908	1.83;1.83;1.83	5.69	2.8	0.32819	Nuclear Testis  protein, N-terminal (1);	0.571362	0.17004	N	0.190796	T	0.28234	0.0697	M	0.72894	2.215	0.09310	N	1	P;P;B	0.39352	0.669;0.617;0.211	B;B;B	0.41374	0.355;0.242;0.09	T	0.21586	-1.0241	10	0.66056	D	0.02	.	5.0258	0.14383	0.0:0.6002:0.1539:0.2459	.	192;202;174	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	L	202;192;174;174	ENSP00000444896:P202L;ENSP00000407031:P192L;ENSP00000329448:P174L	ENSP00000329448:P174L	P	+	2	0	C15orf55	32427966	0.001000	0.12720	0.000000	0.03702	0.021000	0.10359	1.041000	0.30291	0.342000	0.23796	0.655000	0.94253	CCC		0.597	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1		NM_175741		3	26	0	0	0	0.004672	0	3	26		
ZNF770	54989	broad.mit.edu	37	15	35275416	35275416	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:35275416G>A	ENST00000356321.4	-	3	564	c.220C>T	c.(220-222)Caa>Taa	p.Q74*		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	74					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TGAGTTAGTTGATGCCTCTCC	0.358																																						uc001ziw.2		NaN																	0				ovary(1)	1						c.(220-222)CAA>TAA		zinc finger protein 770							88.0	86.0	87.0					15																	35275416		2201	4298	6499	SO:0001587	stop_gained	54989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:35275416G>A	BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"""Zinc fingers, C2H2-type"""	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.220C>T	15.37:g.35275416G>A	ENSP00000348673:p.Gln74*						p.Q74*	NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)	3	531	-		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)	74			C2H2-type 2.		Q6ZMZ6|Q9NWV2	Nonsense_Mutation	SNP	ENST00000356321.4	37	c.220C>T	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.044782	0.55110	.	.	ENSG00000198146	ENST00000356321	.	.	.	5.0	4.08	0.47627	.	0.192223	0.33364	N	0.004997	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-7.598	11.8879	0.52613	0.0:0.0:0.6828:0.3172	.	.	.	.	X	74	.	ENSP00000348673:Q74X	Q	-	1	0	ZNF770	33062708	1.000000	0.71417	0.970000	0.41538	0.943000	0.58893	1.539000	0.36104	1.308000	0.44962	0.655000	0.94253	CAA		0.358	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2		NM_014106		12	84	0	0	0	0.003163	0	12	84		
CASC5	57082	broad.mit.edu	37	15	40917631	40917631	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:40917631C>T	ENST00000346991.5	+	11	5637	c.5247C>T	c.(5245-5247)atC>atT	p.I1749I	CASC5_ENST00000399668.2_Silent_p.I1723I			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1749					acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CTGATGAGATCAATTCTTCAG	0.343																																						uc010bbs.1		NaN																	0				breast(3)|central_nervous_system(1)|skin(1)	5						c.(5245-5247)ATC>ATT		cancer susceptibility candidate 5 isoform 1							81.0	81.0	81.0					15																	40917631		1821	4076	5897	SO:0001819	synonymous_variant	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40917631C>T	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.5247C>T	15.37:g.40917631C>T						CASC5_uc010ucq.1_Silent_p.I1573I|CASC5_uc001zme.2_Silent_p.I1723I|CASC5_uc010bbt.1_Silent_p.I1723I	p.I1749I	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	11	5408	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	1749					Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Silent	SNP	ENST00000346991.5	37	c.5247C>T	CCDS42023.1																																																																																				0.343	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2		NM_144508		15	114	0	0	0	0.004007	0	15	114		
INO80	54617	broad.mit.edu	37	15	41347486	41347486	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:41347486T>A	ENST00000361937.3	-	18	2571	c.2147A>T	c.(2146-2148)gAc>gTc	p.D716V	INO80_ENST00000401393.3_Missense_Mutation_p.D716V			Q9ULG1	INO80_HUMAN	INO80 complex subunit	716	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GCTCTCAATGTCCTTGGAAAA	0.378																																						uc001zni.2		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(2146-2148)GAC>GTC		INO80 complex homolog 1							140.0	124.0	130.0					15																	41347486		2203	4300	6503	SO:0001583	missense	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41347486T>A	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.2147A>T	15.37:g.41347486T>A	ENSP00000355205:p.Asp716Val					INO80_uc010ucu.1_RNA	p.D716V	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN			18	2360	-			716			Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.		A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	c.2147A>T	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.381322	0.82792	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.92965	-3.14;-3.14	4.71	4.71	0.59529	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.94948	0.8366	M	0.62209	1.925	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.95301	0.8403	10	0.66056	D	0.02	.	14.1748	0.65534	0.0:0.0:0.0:1.0	.	716	Q9ULG1	INO80_HUMAN	V	716	ENSP00000355205:D716V;ENSP00000384686:D716V	ENSP00000355205:D716V	D	-	2	0	INO80	39134778	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.027000	0.88791	1.769000	0.52152	0.254000	0.18369	GAC		0.378	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2		NM_017553		16	76	0	0	0	0.00499	0	16	76		
EXD1	161829	broad.mit.edu	37	15	41482170	41482170	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:41482170G>T	ENST00000314992.5	-	9	1037	c.847C>A	c.(847-849)Cgc>Agc	p.R283S	RN7SL497P_ENST00000476341.2_RNA|EXD1_ENST00000458580.2_Missense_Mutation_p.R341S	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	283							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						GACCCTTCGCGATACGTGTTT	0.547																																						uc001znk.2		NaN																	0				ovary(1)	1						c.(847-849)CGC>AGC		exonuclease 3'-5' domain containing 1							150.0	135.0	140.0					15																	41482170		2203	4300	6503	SO:0001583	missense	161829				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr15:41482170G>T	BC030628	CCDS10072.1, CCDS66738.1	15q15.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000178997	ENSG00000178997			28507	protein-coding gene	gene with protein product			"""exonuclease 3'-5' domain-like 1"""	EXDL1		12477932	Standard	NM_001286441		Approved	MGC33637	uc001znk.3	Q8NHP7	OTTHUMG00000130232	ENST00000314992.5:c.847C>A	15.37:g.41482170G>T	ENSP00000321029:p.Arg283Ser					EXD1_uc001znj.2_Missense_Mutation_p.R81S|EXD1_uc010ucv.1_Missense_Mutation_p.R341S	p.R283S	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN			9	1038	-			283					A8K909|B7Z839|Q6ZW94	Missense_Mutation	SNP	ENST00000314992.5	37	c.847C>A	CCDS10072.1	.	.	.	.	.	.	.	.	.	.	G	7.764	0.706056	0.15172	.	.	ENSG00000178997	ENST00000314992;ENST00000458580	T;T	0.57436	0.41;0.4	6.07	2.0	0.26442	Ribonuclease H-like (1);	0.350624	0.26742	N	0.022734	T	0.63141	0.2486	M	0.72894	2.215	0.09310	N	1	P;P;D	0.69078	0.759;0.712;0.997	B;B;P	0.61328	0.24;0.253;0.887	T	0.54357	-0.8306	10	0.45353	T	0.12	-5.6681	8.5203	0.33270	0.0678:0.0:0.5378:0.3943	.	341;283;81	B7Z839;Q8NHP7;Q8NHP7-2	.;EXD1_HUMAN;.	S	283;341	ENSP00000321029:R283S;ENSP00000415056:R341S	ENSP00000321029:R283S	R	-	1	0	EXD1	39269462	0.831000	0.29352	0.000000	0.03702	0.003000	0.03518	1.371000	0.34250	0.115000	0.18071	-0.182000	0.12963	CGC		0.547	EXD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252553.2		NM_152596		7	132	1	0	2.17888e-05	0.006214	2.25829e-05	7	132		
SPTBN5	51332	broad.mit.edu	37	15	42171661	42171661	+	Silent	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:42171661G>C	ENST00000320955.6	-	16	3206	c.2979C>G	c.(2977-2979)gcC>gcG	p.A993A		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	993					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CCAGCTGCACGGCCTTCTCCC	0.632																																						uc001zos.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(2872-2874)GCC>GCG		spectrin, beta, non-erythrocytic 5							15.0	18.0	17.0					15																	42171661		2015	4145	6160	SO:0001819	synonymous_variant	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42171661G>C	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.2979C>G	15.37:g.42171661G>C							p.A958A	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	16	3207	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	993			Spectrin 7.			Silent	SNP	ENST00000320955.6	37	c.2874C>G																																																																																					0.632	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1		NM_016642		4	6	0	0	0	0.009096	0	4	6		
FBN1	2200	broad.mit.edu	37	15	48725087	48725087	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:48725087T>C	ENST00000316623.5	-	55	7170	c.6715A>G	c.(6715-6717)Aga>Gga	p.R2239G		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2239	EGF-like 38; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CGGTCTTCTCTGAGCACATAT	0.468																																						uc001zwx.1		NaN																	0				ovary(2)|large_intestine(1)	3						c.(6715-6717)AGA>GGA		fibrillin 1 precursor							175.0	147.0	157.0					15																	48725087		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48725087T>C	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.6715A>G	15.37:g.48725087T>C	ENSP00000325527:p.Arg2239Gly					FBN1_uc010beo.1_RNA	p.R2239G	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	55	7043	-		all_lung(180;0.00279)	2239			EGF-like 38; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.6715A>G	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	T	19.56	3.850034	0.71603	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.91295	-2.82	6.06	4.92	0.64577	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.87132	0.6101	N	0.02213	-0.635	0.80722	D	1	D	0.62365	0.991	D	0.78314	0.991	D	0.88209	0.2889	10	0.39692	T	0.17	.	12.5842	0.56408	0.0:0.0:0.3974:0.6026	.	2239	P35555	FBN1_HUMAN	G	2239;807;1129	ENSP00000325527:R2239G	ENSP00000325527:R2239G	R	-	1	2	FBN1	46512379	0.997000	0.39634	0.996000	0.52242	0.852000	0.48524	2.293000	0.43558	1.095000	0.41419	0.533000	0.62120	AGA		0.468	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1				30	171	0	0	0	0.007835	0	30	171		
FBN1	2200	broad.mit.edu	37	15	48773879	48773879	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:48773879C>G	ENST00000316623.5	-	32	4392	c.3937G>C	c.(3937-3939)Ggc>Cgc	p.G1313R		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1313	EGF-like 21; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.G1313R(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CCTTTTTTGCCGGAGTAGCCC	0.373																																						uc001zwx.1		NaN																	1	Substitution - Missense(1)		prostate(1)	ovary(2)|large_intestine(1)	3						c.(3937-3939)GGC>CGC		fibrillin 1 precursor							129.0	126.0	127.0					15																	48773879		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48773879C>G	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.3937G>C	15.37:g.48773879C>G	ENSP00000325527:p.Gly1313Arg						p.G1313R	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	32	4265	-		all_lung(180;0.00279)	1313			EGF-like 21; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.3937G>C	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.309841	0.60414	.	.	ENSG00000166147	ENST00000316623	D	0.91843	-2.92	5.39	5.39	0.77823	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.160378	0.56097	D	0.000034	D	0.95303	0.8476	L	0.61218	1.895	0.80722	D	1	D	0.69078	0.997	D	0.68943	0.961	D	0.95247	0.8356	10	0.62326	D	0.03	.	19.0959	0.93251	0.0:1.0:0.0:0.0	.	1313	P35555	FBN1_HUMAN	R	1313	ENSP00000325527:G1313R	ENSP00000325527:G1313R	G	-	1	0	FBN1	46561171	1.000000	0.71417	0.983000	0.44433	0.294000	0.27393	6.003000	0.70701	2.674000	0.91012	0.467000	0.42956	GGC		0.373	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1				14	137	0	0	0	0.00499	0	14	137		
CYP19A1	1588	broad.mit.edu	37	15	51514603	51514603	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:51514603G>A	ENST00000396402.1	-	5	724	c.571C>T	c.(571-573)Ctg>Ttg	p.L191L	RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000396404.4_Silent_p.L191L|CYP19A1_ENST00000260433.2_Silent_p.L191L|CYP19A1_ENST00000557858.1_Silent_p.L191L|CYP19A1_ENST00000405913.3_Silent_p.L191L|CYP19A1_ENST00000559878.1_Silent_p.L191L	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	191					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|prostate gland growth (GO:0060736)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)	aromatase activity (GO:0070330)|electron carrier activity (GO:0009055)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	ACACGACGCAGAAGGGTCAAC	0.488																																					Melanoma(142;1016 1807 39614 48966 51721)	uc001zyz.3		NaN																	0				skin(3)	3						c.(571-573)CTG>TTG		cytochrome P450, family 19	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)						179.0	135.0	150.0					15																	51514603		2196	4293	6489	SO:0001819	synonymous_variant	1588				estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr15:51514603G>A	D14473	CCDS10139.1	15q21	2009-01-26	2003-02-14	2003-02-28	ENSG00000137869	ENSG00000137869		"""Cytochrome P450s"""	2594	protein-coding gene	gene with protein product		107910	"""cytochrome P450, subfamily XIX (aromatization of androgens)"""	CYP19		8477708	Standard	NM_031226		Approved	ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase	uc001zza.4	P11511	OTTHUMG00000131747	ENST00000396402.1:c.571C>T	15.37:g.51514603G>A						CYP19A1_uc001zza.3_Silent_p.L191L|CYP19A1_uc001zzb.2_Silent_p.L191L|CYP19A1_uc001zzd.2_Silent_p.L191L|CYP19A1_uc010bey.1_Silent_p.L191L	p.L191L	NM_031226	NP_112503	P11511	CP19A_HUMAN		all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	6	822	-			191					Q16731|Q3B764|Q58FA0|Q8IYJ7	Silent	SNP	ENST00000396402.1	37	c.571C>T	CCDS10139.1																																																																																				0.488	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254669.1				8	96	0	0	0	0.006214	0	8	96		
DMXL2	23312	broad.mit.edu	37	15	51792343	51792343	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:51792343G>C	ENST00000251076.5	-	18	3365	c.3078C>G	c.(3076-3078)ttC>ttG	p.F1026L	DMXL2_ENST00000543779.2_Missense_Mutation_p.F1026L|DMXL2_ENST00000449909.3_Intron|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1026						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AACATTTCCAGAAGCGTACTT	0.363																																						uc002abf.2		NaN																	0				ovary(6)|skin(3)	9						c.(3076-3078)TTC>TTG		Dmx-like 2							89.0	91.0	90.0					15																	51792343		2195	4292	6487	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51792343G>C	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.3078C>G	15.37:g.51792343G>C	ENSP00000251076:p.Phe1026Leu					DMXL2_uc010ufy.1_Missense_Mutation_p.F1026L|DMXL2_uc010bfa.2_Intron	p.F1026L	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	18	3303	-			1026			WD 8.		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.3078C>G	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775081	0.70107	.	.	ENSG00000104093	ENST00000251076;ENST00000543779	T;T	0.44482	0.92;0.92	5.81	5.81	0.92471	WD40/YVTN repeat-like-containing domain (1);	0.086238	0.85682	D	0.000000	T	0.70168	0.3193	M	0.83774	2.66	0.80722	D	1	D;D	0.76494	0.999;0.986	D;D	0.83275	0.996;0.965	T	0.73186	-0.4062	10	0.87932	D	0	.	20.0912	0.97820	0.0:0.0:1.0:0.0	.	1026;1026	F5GWF1;Q8TDJ6	.;DMXL2_HUMAN	L	1026	ENSP00000251076:F1026L;ENSP00000441858:F1026L	ENSP00000251076:F1026L	F	-	3	2	DMXL2	49579635	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.502000	0.60400	2.746000	0.94184	0.591000	0.81541	TTC		0.363	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2		NM_015263		5	108	0	0	0	0.001168	0	5	108		
LIPC	3990	broad.mit.edu	37	15	58855759	58855759	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:58855759G>C	ENST00000356113.6	+	10	1840	c.1225G>C	c.(1225-1227)Gat>Cat	p.D409H	LIPC_ENST00000414170.3_Missense_Mutation_p.D409H|LIPC_ENST00000299022.5_Missense_Mutation_p.D409H|LIPC_ENST00000433326.2_Missense_Mutation_p.D348H			P11150	LIPC_HUMAN	lipase, hepatic	409	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.		D -> A (in dbSNP:rs142036980). {ECO:0000269|PubMed:12966036}.		cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		GCTGGATGTGGATATCGGCGA	0.453																																						uc010bga.1		NaN																	0				ovary(1)	1						c.(1225-1227)GAT>CAT		lipase C precursor							138.0	113.0	121.0					15																	58855759		2192	4292	6484	SO:0001583	missense	3990				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity	g.chr15:58855759G>C		CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.1225G>C	15.37:g.58855759G>C	ENSP00000348425:p.Asp409His					LIPC_uc010bfz.1_Missense_Mutation_p.D409H|LIPC_uc002afa.1_Missense_Mutation_p.D409H|LIPC_uc010bgb.1_Missense_Mutation_p.D307H|LIPC_uc010ugy.1_Missense_Mutation_p.D348H	p.D409H	NM_000236	NP_000227	P11150	LIPC_HUMAN		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)	10	1833	+		Colorectal(260;0.215)	409		D -> A.	PLAT.		A2RUB4|A8K9B6|O43571|P78529|Q99465	Missense_Mutation	SNP	ENST00000356113.6	37	c.1225G>C	CCDS10166.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219693	0.58560	.	.	ENSG00000166035	ENST00000356113;ENST00000414170;ENST00000299022;ENST00000433326	T;T;T;T	0.76448	0.49;-1.02;0.49;0.49	5.9	5.9	0.94986	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.000000	0.85682	D	0.000000	D	0.90366	0.6985	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.90986	0.4831	10	0.87932	D	0	.	20.282	0.98514	0.0:0.0:1.0:0.0	.	348;409	E7EUK6;P11150	.;LIPC_HUMAN	H	409;409;409;348	ENSP00000348425:D409H;ENSP00000395569:D409H;ENSP00000299022:D409H;ENSP00000395002:D348H	ENSP00000299022:D409H	D	+	1	0	LIPC	56643051	1.000000	0.71417	0.152000	0.22495	0.020000	0.10135	7.150000	0.77403	2.786000	0.95864	0.563000	0.77884	GAT		0.453	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1				9	176	0	0	0	0.006214	0	9	176		
VPS13C	54832	broad.mit.edu	37	15	62167121	62167121	+	Silent	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:62167121T>C	ENST00000261517.5	-	77	10441	c.10368A>G	c.(10366-10368)gcA>gcG	p.A3456A	VPS13C_ENST00000395898.3_Silent_p.A3413A|VPS13C_ENST00000249837.3_Silent_p.A3413A|VPS13C_ENST00000558919.1_5'Flank|VPS13C_ENST00000395896.4_Silent_p.A3456A	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTAACCCCTCTGCAAATTCTT	0.299																																						uc002agz.2		NaN																	0				ovary(2)	2						c.(10366-10368)GCA>GCG		vacuolar protein sorting 13C protein isoform 2A							100.0	100.0	100.0					15																	62167121		2203	4300	6503	SO:0001819	synonymous_variant	54832				protein localization			g.chr15:62167121T>C	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.10368A>G	15.37:g.62167121T>C						VPS13C_uc002aha.2_Silent_p.A3413A|VPS13C_uc002ahb.1_Silent_p.A3456A|VPS13C_uc002ahc.1_Silent_p.A3413A	p.A3456A	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			77	10442	-			3456						Silent	SNP	ENST00000261517.5	37	c.10368A>G	CCDS32257.1																																																																																				0.299	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1		NM_017684		45	220	0	0	0	0.01441	0	45	220		
TLN2	83660	broad.mit.edu	37	15	63032843	63032843	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:63032843G>C	ENST00000561311.1	+	31	4130	c.3900G>C	c.(3898-3900)caG>caC	p.Q1300H	TLN2_ENST00000306829.6_Missense_Mutation_p.Q1300H			Q9Y4G6	TLN2_HUMAN	talin 2	1300					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AAGAAGACCAGATCCAAGTGA	0.502																																						uc002alb.3		NaN																	0				ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						c.(3898-3900)CAG>CAC		talin 2							99.0	93.0	95.0					15																	63032843		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63032843G>C	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.3900G>C	15.37:g.63032843G>C	ENSP00000453508:p.Gln1300His					TLN2_uc002alc.3_5'UTR	p.Q1300H	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN			29	3900	+			1300					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.3900G>C	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.020361	0.75275	.	.	ENSG00000171914	ENST00000306829	T	0.14893	2.47	5.87	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.31606	0.0802	L	0.52126	1.63	0.58432	D	0.999999	D	0.56968	0.978	P	0.61940	0.896	T	0.02339	-1.1174	10	0.56958	D	0.05	-16.0055	11.646	0.51261	0.1365:0.0:0.8635:0.0	.	1300	Q9Y4G6	TLN2_HUMAN	H	1300	ENSP00000303476:Q1300H	ENSP00000303476:Q1300H	Q	+	3	2	TLN2	60820135	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.834000	0.69361	1.627000	0.50400	0.655000	0.94253	CAG		0.502	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2				21	101	0	0	0	0.010504	0	21	101		
DENND4A	10260	broad.mit.edu	37	15	66021464	66021464	+	Missense_Mutation	SNP	T	T	C	rs376339118		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:66021464T>C	ENST00000431932.2	-	11	1641	c.1433A>G	c.(1432-1434)tAt>tGt	p.Y478C	DENND4A_ENST00000443035.3_Missense_Mutation_p.Y478C	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	478	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TGGAGGATCATAGAGATCAAA	0.393																																						uc002aph.2		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(1432-1434)TAT>TGT		DENN/MADD domain containing 4A isoform 2		T	CYS/TYR,CYS/TYR	1,3845		0,1,1922	54.0	51.0	52.0		1433,1433	5.8	1.0	15		52	0,8256		0,0,4128	no	missense,missense	DENND4A	NM_001144823.1,NM_005848.3	194,194	0,1,6050	CC,CT,TT		0.0,0.026,0.0083	probably-damaging,probably-damaging	478/1907,478/1864	66021464	1,12101	1923	4128	6051	SO:0001583	missense	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:66021464T>C	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.1433A>G	15.37:g.66021464T>C	ENSP00000396830:p.Tyr478Cys					DENND4A_uc002api.2_Missense_Mutation_p.Y478C|DENND4A_uc002apj.3_Missense_Mutation_p.Y478C|DENND4A_uc010ujj.1_Missense_Mutation_p.Y478C	p.Y478C	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN			11	1811	-			478			DENN.		E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	c.1433A>G	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.309530	0.81247	2.6E-4	0.0	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.11604	2.76;2.76	5.83	5.83	0.93111	DENN (3);	0.119115	0.64402	D	0.000015	T	0.32041	0.0816	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	0.996;1.0;1.0	D;D;D	0.97110	0.95;1.0;0.999	T	0.01675	-1.1298	10	0.87932	D	0	.	16.1968	0.82036	0.0:0.0:0.0:1.0	.	478;478;478	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	C	478	ENSP00000391167:Y478C;ENSP00000396830:Y478C	ENSP00000396830:Y478C	Y	-	2	0	DENND4A	63808518	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.040000	0.89188	2.225000	0.72522	0.533000	0.62120	TAT		0.393	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1		NM_005848		5	19	0	0	0	0.00308	0	5	19		
RAB11A	8766	broad.mit.edu	37	15	66172008	66172008	+	Splice_Site	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:66172008G>A	ENST00000261890.2	+	4	558		c.e4-1		RAB11A_ENST00000569896.1_Splice_Site|RAB11A_ENST00000564910.1_Splice_Site|RAB11A_ENST00000565075.1_Intron|RAB11A_ENST00000435304.2_Intron	NM_001206836.1|NM_004663.4	NP_001193765.1|NP_004654.1	P62491	RB11A_HUMAN	RAB11A, member RAS oncogene family						cytokinesis (GO:0000910)|establishment of protein localization to membrane (GO:0090150)|exosomal secretion (GO:1990182)|GTP catabolic process (GO:0006184)|melanosome transport (GO:0032402)|multivesicular body assembly (GO:0036258)|neuron projection development (GO:0031175)|plasma membrane to endosome transport (GO:0048227)|positive regulation of axon extension (GO:0045773)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of multivesicular body size (GO:0010796)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	axon (GO:0030424)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|syntaxin binding (GO:0019905)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						TCTCCCCTCAGAAAAGAATGG	0.338																																						uc002apk.2		NaN																	0					0						c.e4-1		Ras-related protein Rab-11A							96.0	98.0	97.0					15																	66172008		2201	4299	6500	SO:0001630	splice_region_variant	8766				cell cycle|cytokinesis|neuron projection development|plasma membrane to endosome transport|protein localization in plasma membrane|small GTPase mediated signal transduction|vesicle-mediated transport	cleavage furrow|plasma membrane|recycling endosome membrane|trans-Golgi network	GTP binding|GTPase activity|syntaxin binding	g.chr15:66172008G>A	X56740	CCDS10212.1, CCDS58373.1	15q22.31	2008-05-14			ENSG00000103769	ENSG00000103769		"""RAB, member RAS oncogene"""	9760	protein-coding gene	gene with protein product		605570				1704119, 9662449	Standard	NM_004663		Approved	YL8	uc002apk.3	P62491	OTTHUMG00000133162	ENST00000261890.2:c.431-1G>A	15.37:g.66172008G>A						RAB11A_uc010ujk.1_Splice_Site_p.E144_splice	p.E144_splice	NM_004663	NP_004654	P62491	RB11A_HUMAN			4	559	+								B2R4B6|B4DT13|P24410|Q5TZN9|Q9JLX1	Splice_Site	SNP	ENST00000261890.2	37	c.431_splice	CCDS10212.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.547937	0.65311	.	.	ENSG00000103769	ENST00000261890	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0233	0.92923	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RAB11A	63959062	1.000000	0.71417	0.998000	0.56505	0.542000	0.35054	9.840000	0.99478	2.481000	0.83766	0.563000	0.77884	.		0.338	RAB11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256864.1			Intron	10	155	0	0	0	0.008291	0	10	155		
ACSBG1	23205	broad.mit.edu	37	15	78475048	78475048	+	Splice_Site	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:78475048G>A	ENST00000258873.4	-	6	948	c.743C>T	c.(742-744)aCg>aTg	p.T248M	ACSBG1_ENST00000560817.1_Splice_Site_p.T6M|ACSBG1_ENST00000541759.1_Splice_Site_p.T6M	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	248					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						TGCCCATACCGTGTACACATT	0.537																																						uc002bdh.2		NaN																	0				ovary(1)	1						c.(742-744)ACG>ATG		lipidosin							131.0	123.0	126.0					15																	78475048		2196	4293	6489	SO:0001630	splice_region_variant	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78475048G>A	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.744+1C>T	15.37:g.78475048G>A						ACSBG1_uc010umw.1_Missense_Mutation_p.T244M|ACSBG1_uc010umx.1_Missense_Mutation_p.T6M|ACSBG1_uc010umy.1_Missense_Mutation_p.T141M	p.T248M	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN			6	799	-			248					B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	ENST00000258873.4	37	c.743C>T	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.603571	0.87157	.	.	ENSG00000103740	ENST00000258873;ENST00000541759	T;T	0.11495	2.77;2.77	5.49	4.58	0.56647	AMP-dependent synthetase/ligase (1);	0.064498	0.64402	D	0.000007	T	0.31451	0.0797	M	0.78223	2.4	0.38973	D	0.958785	D;D	0.89917	1.0;0.999	D;D	0.74023	0.982;0.973	T	0.11251	-1.0595	10	0.52906	T	0.07	-22.6578	11.4034	0.49883	0.1493:0.0:0.8507:0.0	.	244;248	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	M	248;6	ENSP00000258873:T248M;ENSP00000439955:T6M	ENSP00000258873:T248M	T	-	2	0	ACSBG1	76262103	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.087000	0.64480	1.315000	0.45114	0.655000	0.94253	ACG		0.537	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2		NM_015162	Missense_Mutation	27	161	0	0	0	0.004289	0	27	161		
FAM154B	283726	broad.mit.edu	37	15	82575106	82575106	+	Silent	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:82575106T>C	ENST00000339465.5	+	3	969	c.900T>C	c.(898-900)atT>atC	p.I300I	FAM154B_ENST00000427381.2_Silent_p.I285I|FAM154B_ENST00000565501.1_3'UTR	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	300										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						AAGGACTTATTAAGAAGCAGC	0.398																																						uc002bgv.2		NaN																	0				skin(2)	2						c.(898-900)ATT>ATC		hypothetical protein LOC283726							57.0	59.0	59.0					15																	82575106		2203	4300	6503	SO:0001819	synonymous_variant	283726							g.chr15:82575106T>C	AL833762	CCDS32310.1	15q25.2	2008-02-21				ENSG00000188659			33727	protein-coding gene	gene with protein product							Standard	XM_005254317		Approved	DKFZp666G057	uc002bgv.3	Q658L1		ENST00000339465.5:c.900T>C	15.37:g.82575106T>C						FAM154B_uc010unr.1_Silent_p.I285I|FAM154B_uc010uns.1_RNA	p.I300I	NM_001008226	NP_001008227	Q658L1	F154B_HUMAN			3	969	+			300					B4E2M2	Silent	SNP	ENST00000339465.5	37	c.900T>C	CCDS32310.1																																																																																				0.398	FAM154B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419644.1		NM_001008226		16	74	0	0	0	0.014323	0	16	74		
ADAMTSL3	57188	broad.mit.edu	37	15	84651116	84651116	+	Missense_Mutation	SNP	G	G	T	rs376711516		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:84651116G>T	ENST00000286744.5	+	21	2960	c.2736G>T	c.(2734-2736)aaG>aaT	p.K912N	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.K912N	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	912	Ig-like C2-type 1.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGGAAGAGAAGCGTATTAACC	0.468																																						uc002bjz.3		NaN																	0				ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27						c.(2734-2736)AAG>AAT		ADAMTS-like 3 precursor							150.0	134.0	139.0					15																	84651116		2203	4300	6503	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84651116G>T	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.2736G>T	15.37:g.84651116G>T	ENSP00000286744:p.Lys912Asn					ADAMTSL3_uc010bmt.1_Missense_Mutation_p.K912N|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.K912N	p.K912N	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		21	2960	+			912			Ig-like C2-type 1.		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.2736G>T	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566698	0.65651	.	.	ENSG00000156218	ENST00000286744	T	0.68624	-0.34	5.05	1.67	0.24075	Immunoglobulin-like (1);	0.163363	0.29218	N	0.012794	T	0.75510	0.3859	M	0.62209	1.925	0.47862	D	0.999537	D;D	0.89917	1.0;1.0	D;D	0.85130	0.992;0.997	T	0.73668	-0.3910	10	0.52906	T	0.07	.	9.3407	0.38079	0.3896:0.0:0.6104:0.0	.	912;912	P82987-2;P82987	.;ATL3_HUMAN	N	912	ENSP00000286744:K912N	ENSP00000286744:K912N	K	+	3	2	ADAMTSL3	82442120	0.903000	0.30736	0.991000	0.47740	0.993000	0.82548	-0.032000	0.12266	0.542000	0.28846	0.563000	0.77884	AAG		0.468	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2		NM_207517		8	99	1	0	0.000157383	0.00308	0.000161646	8	99		
ADAMTSL3	57188	broad.mit.edu	37	15	84651605	84651605	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:84651605G>A	ENST00000286744.5	+	21	3449	c.3225G>A	c.(3223-3225)ttG>ttA	p.L1075L	ADAMTSL3_ENST00000567476.1_Silent_p.L1075L	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1075						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCTGGGAGTTGAAGAATAAGC	0.443																																						uc002bjz.3		NaN																	0				ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27						c.(3223-3225)TTG>TTA		ADAMTS-like 3 precursor							73.0	72.0	72.0					15																	84651605		2203	4300	6503	SO:0001819	synonymous_variant	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84651605G>A	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.3225G>A	15.37:g.84651605G>A						ADAMTSL3_uc010bmt.1_Silent_p.L1075L|ADAMTSL3_uc010bmu.1_Silent_p.L1075L	p.L1075L	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		21	3449	+			1075					A1A566|A1A567|Q9ULI7	Silent	SNP	ENST00000286744.5	37	c.3225G>A	CCDS10326.1																																																																																				0.443	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2		NM_207517		6	72	0	0	0	0.001168	0	6	72		
AGBL1	123624	broad.mit.edu	37	15	86702233	86702233	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:86702233C>A	ENST00000441037.2	+	4	421	c.326C>A	c.(325-327)aCc>aAc	p.T109N	AGBL1_ENST00000421325.2_Missense_Mutation_p.T109N	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	109					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ACTCCTTACACCCGAAAGCGC	0.438																																						uc002blz.1		NaN																	0					0						c.(325-327)ACC>AAC		ATP/GTP binding protein-like 1							135.0	124.0	127.0					15																	86702233		1929	4128	6057	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86702233C>A	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.326C>A	15.37:g.86702233C>A	ENSP00000413001:p.Thr109Asn						p.T109N	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN			4	406	+			109					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.326C>A	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	C	7.762	0.705604	0.15172	.	.	ENSG00000166748	ENST00000441037;ENST00000421325	T	0.34072	1.38	4.81	4.81	0.61882	Armadillo-like helical (1);Armadillo-type fold (1);	.	.	.	.	T	0.36276	0.0961	M	0.67953	2.075	0.58432	D	0.999992	P	0.41313	0.745	B	0.35470	0.203	T	0.43081	-0.9413	9	0.72032	D	0.01	-18.5576	13.7266	0.62761	0.0:1.0:0.0:0.0	.	109	Q96MI9	CBPC4_HUMAN	N	138;109	ENSP00000397173:T109N	ENSP00000397173:T109N	T	+	2	0	AGBL1	84503237	0.085000	0.21516	0.012000	0.15200	0.023000	0.10783	1.946000	0.40283	2.371000	0.80710	0.655000	0.94253	ACC		0.438	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5		NM_152336		18	117	1	0	5.61819e-17	0.005443	6.28078e-17	18	117		
NTRK3	4916	broad.mit.edu	37	15	88679230	88679230	+	Silent	SNP	C	C	G	rs141317844	byFrequency	TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:88679230C>G	ENST00000360948.2	-	8	968	c.807G>C	c.(805-807)acG>acC	p.T269T	NTRK3_ENST00000542733.2_Silent_p.T171T|NTRK3_ENST00000355254.2_Silent_p.T269T|NTRK3_ENST00000317501.3_Silent_p.T269T|NTRK3_ENST00000557856.1_Silent_p.T269T|NTRK3_ENST00000357724.2_Silent_p.T269T|NTRK3_ENST00000558676.1_Silent_p.T269T|NTRK3_ENST00000540489.2_Silent_p.T269T|NTRK3_ENST00000394480.2_Silent_p.T269T	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	269	Ig-like C2-type 1.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CATTCACCAGCGTCAAGTTGA	0.478			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												uc002bme.1		NaN		Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		congenital fibrosarcoma|Secretory breast 	ETV6/NTRK3(234)	0				soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281						c.(805-807)ACG>ACC		neurotrophic tyrosine kinase, receptor, type 3							242.0	164.0	191.0					15																	88679230		2201	4299	6500	SO:0001819	synonymous_variant	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88679230C>G	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.807G>C	15.37:g.88679230C>G		TSP Lung(13;0.10)				NTRK3_uc002bmh.2_Silent_p.T269T|NTRK3_uc002bmf.1_Silent_p.T269T|NTRK3_uc010upl.1_Silent_p.T171T|NTRK3_uc010bnh.1_Silent_p.T269T|NTRK3_uc002bmg.2_Silent_p.T269T	p.T269T	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		8	969	-			269			Ig-like C2-type 1.|Extracellular (Potential).		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Silent	SNP	ENST00000360948.2	37	c.807G>C	CCDS32322.1																																																																																				0.478	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding					16	154	0	0	0	0.008871	0	16	154		
CRTC3	64784	broad.mit.edu	37	15	91169176	91169176	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:91169176G>A	ENST00000268184.6	+	10	922	c.918G>A	c.(916-918)gtG>gtA	p.V306V	RP11-387D10.2_ENST00000559531.1_RNA|CRTC3_ENST00000420329.2_Silent_p.V306V			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	306					energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)		CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			GGAATAGTGTGAACAACATCC	0.537			T	MAML2	salivary gland mucoepidermoid																																	uc002bpp.2		NaN		Dom	yes		15	15q26.1	64784	T	CREB regulated transcription coactivator 3			E	MAML2		salivary gland mucoepidermoid	CRTC3/MAML2(26)	0				salivary_gland(26)|ovary(1)	27						c.(916-918)GTG>GTA		transducer of regulated CREB protein 3 isoform							237.0	233.0	234.0					15																	91169176		2198	4298	6496	SO:0001819	synonymous_variant	64784				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr15:91169176G>A		CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.918G>A	15.37:g.91169176G>A						CRTC3_uc002bpo.2_Silent_p.V306V	p.V306V	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)		10	1024	+	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		306					Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Silent	SNP	ENST00000268184.6	37	c.918G>A	CCDS32331.1																																																																																				0.537	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417716.2		NM_022769		34	500	0	0	0	0.00874	0	34	500		
CHD2	1106	broad.mit.edu	37	15	93496669	93496669	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:93496669C>A	ENST00000394196.4	+	14	2653	c.1585C>A	c.(1585-1587)Caa>Aaa	p.Q529K	CHD2_ENST00000557381.1_Missense_Mutation_p.Q529K	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	529	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CCTGTTCCACCAACACCAGCT	0.443																																						uc002bsp.2		NaN																	0				ovary(1)|skin(1)	2						c.(1585-1587)CAA>AAA		chromodomain helicase DNA binding protein 2							142.0	126.0	132.0					15																	93496669		2197	4298	6495	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93496669C>A	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.1585C>A	15.37:g.93496669C>A	ENSP00000377747:p.Gln529Lys					CHD2_uc002bso.1_Missense_Mutation_p.Q529K	p.Q529K	NM_001271	NP_001262	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		14	2160	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		529			Helicase ATP-binding.		C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.1585C>A	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377043	0.42105	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	D;D	0.92911	-3.13;-3.13	5.41	5.41	0.78517	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.32901	U	0.005505	D	0.85932	0.5812	N	0.17723	0.515	0.80722	D	1	B;B	0.15141	0.012;0.01	B;B	0.20577	0.017;0.03	T	0.81011	-0.1126	10	0.09084	T	0.74	-21.7077	19.195	0.93684	0.0:1.0:0.0:0.0	.	529;529	O14647;O14647-2	CHD2_HUMAN;.	K	529	ENSP00000377747:Q529K;ENSP00000451366:Q529K	ENSP00000377747:Q529K	Q	+	1	0	CHD2	91297673	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.967000	0.63722	2.537000	0.85549	0.563000	0.77884	CAA		0.443	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3		NM_001271		24	108	1	0	9.86323e-18	0.003954	1.10536e-17	24	108		
ZNF213	7760	broad.mit.edu	37	16	3189016	3189016	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:3189016G>C	ENST00000396878.3	+	5	1113	c.638G>C	c.(637-639)cGg>cCg	p.R213P	ZNF213_ENST00000576416.1_Missense_Mutation_p.R213P|ZNF213_ENST00000416391.2_Missense_Mutation_p.R55P|ZNF213_ENST00000574902.1_Missense_Mutation_p.R213P	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	213	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						TATTTCTCCCGGGAAGAATGG	0.617																																						uc010uws.1		NaN																	0					0						c.(637-639)CGG>CCG		zinc finger protein 213							76.0	83.0	81.0					16																	3189016		2197	4300	6497	SO:0001583	missense	7760				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3189016G>C	AF017433	CCDS10495.1	16p13.3	2014-05-13	2007-02-20	2007-02-20	ENSG00000085644	ENSG00000085644		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13005	protein-coding gene	gene with protein product		608387				9653642, 10023065	Standard	NM_004220		Approved	CR53, ZKSCAN21, ZSCAN53	uc010uws.2	O14771	OTTHUMG00000177519	ENST00000396878.3:c.638G>C	16.37:g.3189016G>C	ENSP00000380087:p.Arg213Pro					ZNF213_uc002cud.2_RNA|ZNF213_uc010btf.2_3'UTR|ZNF213_uc010bth.2_Missense_Mutation_p.R213P|ZNF213_uc010uwt.1_Silent_p.P188P	p.R213P	NM_004220	NP_004211	O14771	ZN213_HUMAN			5	1085	+			213			KRAB.		A8K1B9|B4DMG6|Q96IS1	Missense_Mutation	SNP	ENST00000396878.3	37	c.638G>C	CCDS10495.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010165	0.54361	.	.	ENSG00000085644	ENST00000396878;ENST00000416391	T;T	0.01933	4.55;4.55	5.23	1.12	0.20585	Krueppel-associated box (4);	0.000000	0.39615	N	0.001314	T	0.02156	0.0067	L	0.27975	0.815	0.34766	D	0.733266	P	0.35050	0.482	B	0.40534	0.332	T	0.56347	-0.7994	10	0.27082	T	0.32	.	7.4046	0.26983	0.3562:0.0:0.6438:0.0	.	213	O14771	ZN213_HUMAN	P	213;55	ENSP00000380087:R213P;ENSP00000403892:R55P	ENSP00000380087:R213P	R	+	2	0	ZNF213	3129017	0.000000	0.05858	0.996000	0.52242	0.995000	0.86356	-0.406000	0.07187	0.049000	0.15920	-0.137000	0.14449	CGG		0.617	ZNF213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437334.1		NM_004220		9	170	0	0	0	0.013537	0	9	170		
ATF7IP2	80063	broad.mit.edu	37	16	10524885	10524885	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:10524885T>G	ENST00000396560.2	+	3	635	c.408T>G	c.(406-408)gaT>gaG	p.D136E	ATF7IP2_ENST00000396559.1_Missense_Mutation_p.D136E|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.D136E|ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.D136E	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	136					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						AGGCAAAAGATTCACTGAACA	0.413																																						uc002czu.2		NaN																	0					0						c.(406-408)GAT>GAG		activating transcription factor 7 interacting							92.0	89.0	90.0					16																	10524885		2197	4300	6497	SO:0001583	missense	80063				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr16:10524885T>G	AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.408T>G	16.37:g.10524885T>G	ENSP00000379808:p.Asp136Glu					ATF7IP2_uc002czv.2_Missense_Mutation_p.D136E|ATF7IP2_uc010uyo.1_RNA|ATF7IP2_uc010uyp.1_Intron|ATF7IP2_uc002czw.2_Missense_Mutation_p.D136E|ATF7IP2_uc010uyq.1_RNA	p.D136E	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN			3	635	+			136					B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	ENST00000396560.2	37	c.408T>G	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	T	10.25	1.298725	0.23650	.	.	ENSG00000166669	ENST00000396559;ENST00000396560;ENST00000535850;ENST00000356427;ENST00000324570	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	5.35	-7.97	0.01139	.	0.482500	0.17199	N	0.183187	T	0.17408	0.0418	L	0.40543	1.245	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.14578	0.011;0.011	T	0.46414	-0.9193	10	0.02654	T	1	0.4403	2.3409	0.04260	0.2203:0.1739:0.4447:0.1611	.	136;136	Q5U623-2;Q5U623	.;MCAF2_HUMAN	E	136	ENSP00000379807:D136E;ENSP00000379808:D136E;ENSP00000440791:D136E;ENSP00000348799:D136E;ENSP00000322811:D136E	ENSP00000322811:D136E	D	+	3	2	ATF7IP2	10432386	0.000000	0.05858	0.001000	0.08648	0.202000	0.24057	-1.024000	0.03603	-0.905000	0.03871	0.260000	0.18958	GAT		0.413	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1		NM_024997		27	103	0	0	0	0.003271	0	27	103		
KIAA0430	9665	broad.mit.edu	37	16	15728731	15728731	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:15728731T>A	ENST00000396368.3	-	4	1095	c.889A>T	c.(889-891)Aat>Tat	p.N297Y	KIAA0430_ENST00000548025.1_Missense_Mutation_p.N297Y|KIAA0430_ENST00000344181.3_Missense_Mutation_p.N119Y|KIAA0430_ENST00000602337.1_Missense_Mutation_p.N297Y|KIAA0430_ENST00000551742.1_Missense_Mutation_p.N297Y|KIAA0430_ENST00000540441.2_Missense_Mutation_p.N297Y	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	297					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GGTTGAGTATTTGGAGGTGGT	0.443																																						uc002ddr.2		NaN																	0					0						c.(889-891)AAT>TAT		limkain b1							273.0	249.0	257.0					16																	15728731		1946	4129	6075	SO:0001583	missense	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15728731T>A	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.889A>T	16.37:g.15728731T>A	ENSP00000379654:p.Asn297Tyr					KIAA0430_uc002ddq.2_Missense_Mutation_p.N296Y|KIAA0430_uc010uzv.1_Missense_Mutation_p.N296Y|KIAA0430_uc010uzw.1_Missense_Mutation_p.N296Y|KIAA0430_uc010uzx.1_3'UTR	p.N297Y	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN			4	1082	-			296					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	c.889A>T	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	T	19.04	3.750829	0.69533	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.62	5.62	0.85841	.	0.264886	0.43110	D	0.000619	T	0.49167	0.1541	L	0.44542	1.39	0.25126	N	0.9906	D;D;D;D	0.58620	0.983;0.983;0.983;0.971	P;P;P;P	0.52514	0.701;0.701;0.701;0.506	T	0.48896	-0.8994	9	0.72032	D	0.01	-14.722	16.1283	0.81408	0.0:0.0:0.0:1.0	.	296;297;296;296	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	Y	297;297;296;119;297;297;297	.	ENSP00000315718:N296Y	N	-	1	0	KIAA0430	15636232	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.908000	0.63307	2.263000	0.75096	0.533000	0.62120	AAT		0.443	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2		NM_014647		7	174	0	0	0	0.00308	0	7	174		
DNAH3	55567	broad.mit.edu	37	16	20975225	20975225	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:20975225A>G	ENST00000261383.3	-	53	9980	c.9981T>C	c.(9979-9981)aaT>aaC	p.N3327N	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3327					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCATGTAGAGATTTATGAACC	0.488																																						uc010vbe.1		NaN																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(9979-9981)AAT>AAC		dynein, axonemal, heavy chain 3							141.0	117.0	125.0					16																	20975225		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20975225A>G	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.9981T>C	16.37:g.20975225A>G						DNAH3_uc010vbd.1_Silent_p.N762N	p.N3327N	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	9981	-			3327					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.9981T>C	CCDS10594.1																																																																																				0.488	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1		NM_017539		10	127	0	0	0	0.010729	0	10	127		
CRYM	1428	broad.mit.edu	37	16	21273477	21273477	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:21273477C>G	ENST00000219599.3	-	8	941	c.676G>C	c.(676-678)Gtt>Ctt	p.V226L	CRYM_ENST00000396023.2_Missense_Mutation_p.V226L|CRYM_ENST00000543948.1_Missense_Mutation_p.V226L|CRYM_ENST00000415987.2_Missense_Mutation_p.V184L	NM_001888.3	NP_001879.1	Q14894	CRYM_HUMAN	crystallin, mu	226					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|sensory perception of sound (GO:0007605)|thyroid hormone metabolic process (GO:0042403)|thyroid hormone transport (GO:0070327)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|thiomorpholine-carboxylate dehydrogenase activity (GO:0047127)|thyroid hormone binding (GO:0070324)|transcription corepressor activity (GO:0003714)			large_intestine(1)|lung(3)	4				GBM - Glioblastoma multiforme(48;0.0573)		CTGGCTCCAACAGCTAAGAGA	0.522																																						uc002dik.2		NaN																	0					0						c.(676-678)GTT>CTT		crystallin, mu isoform 1	Levothyroxine(DB00451)						73.0	58.0	63.0					16																	21273477		2199	4300	6499	SO:0001583	missense	1428				negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport	cytoplasm|nucleus|plasma membrane	NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity	g.chr16:21273477C>G		CCDS10597.1	16p12.2	2013-02-14			ENSG00000103316	ENSG00000103316	1.5.1.25		2418	protein-coding gene	gene with protein product	"""thiomorpholine-carboxylate dehydrogenase"""	123740				1478656, 21332720	Standard	NM_001014444		Approved	DFNA40	uc002dim.3	Q14894	OTTHUMG00000090707	ENST00000219599.3:c.676G>C	16.37:g.21273477C>G	ENSP00000219599:p.Val226Leu					CRYM_uc010bwq.1_RNA|CRYM_uc002dil.2_Missense_Mutation_p.V184L|CRYM_uc002dim.2_Missense_Mutation_p.V226L	p.V226L	NM_001888	NP_001879	Q14894	CRYM_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	6	761	-			226					D5MNX0|Q5HYB7	Missense_Mutation	SNP	ENST00000219599.3	37	c.676G>C	CCDS10597.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.892868	0.52121	.	.	ENSG00000103316	ENST00000543948;ENST00000219599;ENST00000396023;ENST00000415987	T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.33	5.56	-4.5	0.03493	NAD(P)-binding domain (1);	0.496844	0.21731	N	0.069975	D	0.87382	0.6163	H	0.97051	3.93	0.19300	N	0.99998	B	0.25007	0.116	B	0.38264	0.269	T	0.81291	-0.0999	10	0.72032	D	0.01	-11.0312	14.2771	0.66187	0.0:0.7712:0.0:0.2288	.	226	Q14894	CRYM_HUMAN	L	226;226;226;184	ENSP00000440227:V226L;ENSP00000219599:V226L;ENSP00000379341:V226L;ENSP00000390928:V184L	ENSP00000219599:V226L	V	-	1	0	CRYM	21180978	0.376000	0.25098	0.000000	0.03702	0.239000	0.25481	0.318000	0.19504	-1.219000	0.02597	-0.150000	0.13652	GTT		0.522	CRYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207398.1				5	40	0	0	0	0.001984	0	5	40		
RABEP2	79874	broad.mit.edu	37	16	28919983	28919983	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:28919983G>A	ENST00000358201.4	-	8	1780	c.1192C>T	c.(1192-1194)Cag>Tag	p.Q398*	RABEP2_ENST00000357573.6_Nonsense_Mutation_p.Q366*|RABEP2_ENST00000544477.1_Nonsense_Mutation_p.Q327*	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	398					endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						TGCGAGCCCTGGGGGGCTGAG	0.642																																					Pancreas(66;639 1284 10093 31061 49099)	uc002drq.2		NaN																	0				ovary(1)|breast(1)|skin(1)	3						c.(1192-1194)CAG>TAG		rabaptin, RAB GTPase binding effector protein 2							83.0	91.0	88.0					16																	28919983		2003	4178	6181	SO:0001587	stop_gained	79874				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity	g.chr16:28919983G>A	AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.1192C>T	16.37:g.28919983G>A	ENSP00000350934:p.Gln398*					uc010vct.1_Intron|RABEP2_uc010vdf.1_Nonsense_Mutation_p.Q327*|RABEP2_uc010byn.2_Nonsense_Mutation_p.Q366*	p.Q398*	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN			8	1240	-			398			Potential.			Nonsense_Mutation	SNP	ENST00000358201.4	37	c.1192C>T	CCDS42140.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.304080	0.60305	.	.	ENSG00000177548	ENST00000358201;ENST00000357573;ENST00000544477	.	.	.	4.78	1.66	0.24008	.	0.658251	0.13336	N	0.395503	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-4.8583	4.407	0.11414	0.206:0.1876:0.6065:0.0	.	.	.	.	X	398;366;327	.	ENSP00000350186:Q366X	Q	-	1	0	RABEP2	28827484	0.012000	0.17670	0.152000	0.22495	0.705000	0.40729	0.686000	0.25392	0.421000	0.25980	0.462000	0.41574	CAG		0.642	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1		NM_024816		19	191	0	0	0	0.008871	0	19	191		
CD2BP2	10421	broad.mit.edu	37	16	30365608	30365608	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:30365608C>T	ENST00000305596.3	-	3	289	c.114G>A	c.(112-114)ggG>ggA	p.G38G	CD2BP2_ENST00000569466.1_Silent_p.G38G|RP11-347C12.10_ENST00000563252.1_lincRNA	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	38					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of phosphatase activity (GO:0010923)|RNA splicing (GO:0008380)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	ribonucleoprotein complex binding (GO:0043021)			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						TAAAGCGGCTCCCAGGACCCC	0.537																																						uc002dxr.2		NaN																	0				ovary(1)	1						c.(112-114)GGG>GGA		CD2 antigen (cytoplasmic tail) binding protein							158.0	164.0	162.0					16																	30365608		2197	4300	6497	SO:0001819	synonymous_variant	10421				assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding	g.chr16:30365608C>T	AF104222	CCDS10675.1	16p11.2	2012-04-17	2006-03-28		ENSG00000169217	ENSG00000169217		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 59"""	604470	"""CD2 antigen (cytoplasmic tail)-binding protein 2"""			9843987	Standard	NM_006110		Approved	LIN1, Snu40, PPP1R59	uc002dxs.3	O95400	OTTHUMG00000132397	ENST00000305596.3:c.114G>A	16.37:g.30365608C>T						CD2BP2_uc002dxs.2_Silent_p.G38G	p.G38G	NM_006110	NP_006101	O95400	CD2B2_HUMAN			2	367	-			38					B2RDX2|Q9ULP2	Silent	SNP	ENST00000305596.3	37	c.114G>A	CCDS10675.1																																																																																				0.537	CD2BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255528.1		NM_006110		25	362	0	0	0	0.010818	0	25	362		
RPGRIP1L	23322	broad.mit.edu	37	16	53636095	53636095	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:53636095C>G	ENST00000379925.3	-	27	3891	c.3841G>C	c.(3841-3843)Gat>Cat	p.D1281H	RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.D1201H|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.D1247H	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	1281					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GCTCGTGCATCAAAAACTAGG	0.423																																						uc002ehp.2		NaN																	0				ovary(1)	1						c.(3841-3843)GAT>CAT		RPGRIP1-like isoform a							84.0	68.0	73.0					16																	53636095		2198	4300	6498	SO:0001583	missense	23322				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	g.chr16:53636095C>G		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.3841G>C	16.37:g.53636095C>G	ENSP00000369257:p.Asp1281His					RPGRIP1L_uc002eho.3_Missense_Mutation_p.D1201H|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.D1235H|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.D1247H	p.D1281H	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN			27	3905	-		all_cancers(37;0.0973)	1281					A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	37	c.3841G>C	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.811724	0.70797	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	T;T	0.70282	-0.47;-0.47	6.05	6.05	0.98169	.	0.055869	0.64402	D	0.000002	T	0.80048	0.4552	L	0.58101	1.795	0.80722	D	1	D;D;D	0.71674	0.998;0.994;0.997	P;P;D	0.65684	0.866;0.868;0.937	T	0.80852	-0.1197	10	0.87932	D	0	-13.98	13.0105	0.58729	0.0:0.9265:0.0:0.0735	.	1235;1281;1201	B7ZKJ9;Q68CZ1;Q68CZ1-2	.;FTM_HUMAN;.	H	1281;1201	ENSP00000369257:D1281H;ENSP00000262135:D1201H	ENSP00000262135:D1201H	D	-	1	0	RPGRIP1L	52193596	0.840000	0.29493	0.314000	0.25224	0.994000	0.84299	1.530000	0.36007	2.878000	0.98634	0.650000	0.86243	GAT		0.423	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1		NM_015272		5	56	0	0	0	0.00308	0	5	56		
IRX6	79190	broad.mit.edu	37	16	55360337	55360337	+	Silent	SNP	C	C	G	rs139857215	byFrequency	TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:55360337C>G	ENST00000290552.7	+	2	1467	c.135C>G	c.(133-135)ccC>ccG	p.P45P	IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	45					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCCCAGCGCCCGCTCTCTGCT	0.637																																						uc002ehy.2		NaN																	0				central_nervous_system(5)|ovary(1)	6						c.(133-135)CCC>CCG		iroquois homeobox protein 6							42.0	39.0	40.0					16																	55360337		2198	4300	6498	SO:0001819	synonymous_variant	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55360337C>G	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.135C>G	16.37:g.55360337C>G						IRX6_uc002ehx.2_Silent_p.P45P|IRX6_uc010ccb.1_RNA	p.P45P	NM_024335	NP_077311	P78412	IRX6_HUMAN			2	668	+			45					B2RN06|Q7Z2K0	Silent	SNP	ENST00000290552.7	37	c.135C>G	CCDS32449.1																																																																																				0.637	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4		NM_024335		7	61	0	0	0	0.006214	0	7	61		
IRX6	79190	broad.mit.edu	37	16	55362966	55362966	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:55362966C>T	ENST00000290552.7	+	5	2408	c.1076C>T	c.(1075-1077)aCa>aTa	p.T359I	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	359					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CACACCGCGACAGCCAGCGCT	0.637																																						uc002ehy.2		NaN																	0				central_nervous_system(5)|ovary(1)	6						c.(1075-1077)ACA>ATA		iroquois homeobox protein 6							58.0	54.0	55.0					16																	55362966		2198	4300	6498	SO:0001583	missense	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55362966C>T	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.1076C>T	16.37:g.55362966C>T	ENSP00000290552:p.Thr359Ile					IRX6_uc002ehx.2_Missense_Mutation_p.T359I	p.T359I	NM_024335	NP_077311	P78412	IRX6_HUMAN			5	1609	+			359					B2RN06|Q7Z2K0	Missense_Mutation	SNP	ENST00000290552.7	37	c.1076C>T	CCDS32449.1	.	.	.	.	.	.	.	.	.	.	C	9.196	1.027283	0.19512	.	.	ENSG00000159387	ENST00000290552	D	0.92545	-3.06	5.36	3.3	0.37823	Iroquois-class homeodomain protein (1);	0.061940	0.64402	D	0.000007	D	0.82540	0.5059	N	0.08118	0	0.09310	N	1	B	0.21381	0.055	B	0.14023	0.01	T	0.75918	-0.3148	10	0.87932	D	0	-4.8286	12.3383	0.55079	0.0:0.5155:0.4845:0.0	.	359	P78412	IRX6_HUMAN	I	359	ENSP00000290552:T359I	ENSP00000290552:T359I	T	+	2	0	IRX6	53920467	0.607000	0.26958	0.106000	0.21319	0.040000	0.13550	1.526000	0.35964	1.214000	0.43395	0.561000	0.74099	ACA		0.637	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4		NM_024335		14	104	0	0	0	0.008871	0	14	104		
NLRC5	84166	broad.mit.edu	37	16	57103764	57103764	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:57103764G>T	ENST00000262510.6	+	37	4741	c.4516G>T	c.(4516-4518)Gtg>Ttg	p.V1506L	NLRC5_ENST00000308149.7_Missense_Mutation_p.V1477L|NLRC5_ENST00000539144.1_Missense_Mutation_p.V1477L|NLRC5_ENST00000436936.1_Missense_Mutation_p.C1527F	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1506					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CTCCAGCTGTGTGAGCACCGA	0.637																																						uc002ekk.1		NaN																	0				ovary(4)|skin(2)|breast(1)	7						c.(4516-4518)GTG>TTG		nucleotide-binding oligomerization domains 27							21.0	17.0	18.0					16																	57103764		2197	4296	6493	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57103764G>T	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.4516G>T	16.37:g.57103764G>T	ENSP00000262510:p.Val1506Leu					NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_RNA|NLRC5_uc002eko.1_RNA|NLRC5_uc002ekq.1_Missense_Mutation_p.V48L|NLRC5_uc002ekr.1_Missense_Mutation_p.V393L	p.V1506L	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN			37	4741	+		all_neural(199;0.225)	1506			LRR 16.		B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.4516G>T	CCDS10773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.72|10.72	1.428537|1.428537	0.25726|0.25726	.|.	.|.	ENSG00000140853|ENSG00000140853	ENST00000436936|ENST00000262510;ENST00000308149;ENST00000539144	T|T;T;T	0.73897|0.11821	-0.79|2.74;2.74;2.74	5.03|5.03	0.675|0.675	0.17952|0.17952	.|.	.|0.286130	.|0.18856	.|N	.|0.129268	T|T	0.05593|0.05593	0.0147|0.0147	N|N	0.16037|0.16037	0.36|0.36	0.09310|0.09310	N|N	0.999999|0.999999	.|B	.|0.25048	.|0.117	.|B	.|0.21360	.|0.034	T|T	0.42649|0.42649	-0.9439|-0.9439	7|10	0.72032|0.08599	D|T	0.01|0.76	.|.	6.3756|6.3756	0.21505|0.21505	0.4236:0.0:0.5764:0.0|0.4236:0.0:0.5764:0.0	.|.	.|1506	.|Q86WI3	.|NLRC5_HUMAN	F|L	1527|1506;1477;1477	ENSP00000389739:C1527F|ENSP00000262510:V1506L;ENSP00000308886:V1477L;ENSP00000441727:V1477L	ENSP00000389739:C1527F|ENSP00000262510:V1506L	C|V	+|+	2|1	0|0	NLRC5|NLRC5	55661265|55661265	0.221000|0.221000	0.23642|0.23642	0.135000|0.135000	0.22099|0.22099	0.762000|0.762000	0.43233|0.43233	0.261000|0.261000	0.18442|0.18442	0.317000|0.317000	0.23160|0.23160	0.549000|0.549000	0.68633|0.68633	TGT|GTG		0.637	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1		NM_032206		5	20	1	0	0.000274275	0.004482	0.00028107	5	20		
FAM65A	79567	broad.mit.edu	37	16	67576933	67576933	+	Silent	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:67576933G>T	ENST00000379312.3	+	13	2377	c.2256G>T	c.(2254-2256)acG>acT	p.T752T	FAM65A_ENST00000042381.4_Silent_p.T748T|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000422602.2_Silent_p.T768T|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000428437.2_Silent_p.T762T|FAM65A_ENST00000540839.3_Silent_p.T768T|CTD-2012K14.3_ENST00000563083.1_RNA	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	752	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CAGAGTCTACGGTTCAGAGTC	0.622																																						uc010vjp.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(2302-2304)ACG>ACT		hypothetical protein LOC79567							88.0	95.0	93.0					16																	67576933		2198	4300	6498	SO:0001819	synonymous_variant	79567					cytoplasm	binding	g.chr16:67576933G>T	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.2256G>T	16.37:g.67576933G>T						FAM65A_uc010cei.1_Silent_p.T590T|FAM65A_uc002eth.2_Silent_p.T748T|FAM65A_uc010cej.2_Silent_p.T751T|FAM65A_uc002eti.1_Silent_p.T711T|FAM65A_uc010vjq.1_Silent_p.T762T|FAM65A_uc002etj.1_Silent_p.T747T|FAM65A_uc002etk.2_Silent_p.T747T	p.T768T	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	13	2400	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	752			Pro-rich.		B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Silent	SNP	ENST00000379312.3	37	c.2304G>T	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	G	2.767	-0.256510	0.05829	.	.	ENSG00000039523	ENST00000428437	.	.	.	4.14	1.12	0.20585	.	.	.	.	.	T	0.24353	0.0590	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23119	-1.0197	4	.	.	.	-0.2847	4.1488	0.10228	0.0:0.573:0.2077:0.2193	.	.	.	.	C	743	.	.	G	+	1	0	FAM65A	66134434	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.022000	0.13511	0.310000	0.22990	-0.321000	0.08615	GGT		0.622	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3		NM_024519		48	187	1	0	3.4597e-24	0.01441	3.95519e-24	48	187		
SRR	63826	broad.mit.edu	37	17	2221250	2221250	+	Silent	SNP	A	A	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:2221250A>C	ENST00000344595.5	+	3	573	c.255A>C	c.(253-255)ggA>ggC	p.G85G	SRR_ENST00000576848.1_Intron	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	85					aging (GO:0007568)|brain development (GO:0007420)|D-serine biosynthetic process (GO:0070179)|D-serine metabolic process (GO:0070178)|L-serine metabolic process (GO:0006563)|protein homotetramerization (GO:0051289)|pyruvate biosynthetic process (GO:0042866)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|serine family amino acid metabolic process (GO:0009069)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|D-serine ammonia-lyase activity (GO:0008721)|glycine binding (GO:0016594)|L-serine ammonia-lyase activity (GO:0003941)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|serine racemase activity (GO:0030378)|threonine racemase activity (GO:0018114)			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)	ACAGCAGTGGAAACCATGGCC	0.468																																						uc002fue.1		NaN																	0					0						c.(253-255)GGA>GGC		serine racemase	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						123.0	118.0	120.0					17																	2221250		2203	4300	6503	SO:0001819	synonymous_variant	63826				D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity	g.chr17:2221250A>C	AF169974	CCDS11017.1	17p13	2007-01-18			ENSG00000167720	ENSG00000167720			14398	protein-coding gene	gene with protein product		606477				17067558, 15953485, 15193426	Standard	NM_021947		Approved	ILV1, ISO1	uc002fue.1	Q9GZT4	OTTHUMG00000090583	ENST00000344595.5:c.255A>C	17.37:g.2221250A>C						SRR_uc002fui.1_5'UTR|SRR_uc002fuh.1_Silent_p.G85G	p.G85G	NM_021947	NP_068766	Q9GZT4	SRR_HUMAN		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	3	323	+		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	85					D3DTI5|Q6IA55	Silent	SNP	ENST00000344595.5	37	c.255A>C	CCDS11017.1																																																																																				0.468	SRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207129.2		NM_021947		22	104	0	0	0	0.014323	0	22	104		
PSMB6	5694	broad.mit.edu	37	17	4700748	4700748	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:4700748T>A	ENST00000270586.3	+	3	237	c.186T>A	c.(184-186)aaT>aaA	p.N62K		NM_001270481.1|NM_002798.2	NP_001257410.1|NP_002789.1	P28072	PSB6_HUMAN	proteasome (prosome, macropain) subunit, beta type, 6	62					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	endopeptidase activity (GO:0004175)|threonine-type endopeptidase activity (GO:0004298)			endometrium(3)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						ACATCGCCAATCGAGTGACTG	0.552																																						uc002fzb.2		NaN																	0				ovary(2)	2						c.(184-186)AAT>AAA		proteasome beta 6 subunit precursor							168.0	144.0	152.0					17																	4700748		2203	4300	6503	SO:0001583	missense	5694				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr17:4700748T>A	BC000835	CCDS11056.1, CCDS73944.1	17p13	2004-02-18			ENSG00000142507	ENSG00000142507		"""Proteasome (prosome, macropain) subunits"""	9543	protein-coding gene	gene with protein product		600307				8066462, 1888762	Standard	NM_002798		Approved	Y, DELTA	uc002fzb.4	P28072	OTTHUMG00000090777	ENST00000270586.3:c.186T>A	17.37:g.4700748T>A	ENSP00000270586:p.Asn62Lys						p.N62K	NM_002798	NP_002789	P28072	PSB6_HUMAN			3	219	+			62					Q96J55	Missense_Mutation	SNP	ENST00000270586.3	37	c.186T>A	CCDS11056.1	.	.	.	.	.	.	.	.	.	.	T	16.54	3.152418	0.57259	.	.	ENSG00000142507	ENST00000270586	T	0.20881	2.04	5.65	-0.396	0.12427	Proteasome, beta-type subunit, conserved site (1);	0.090839	0.64402	D	0.000001	T	0.52370	0.1730	H	0.95260	3.645	0.46437	D	0.999048	D	0.89917	1.0	D	0.97110	1.0	T	0.59423	-0.7457	10	0.87932	D	0	-28.1064	9.5444	0.39271	0.0:0.5419:0.0:0.4581	.	62	P28072	PSB6_HUMAN	K	62	ENSP00000270586:N62K	ENSP00000270586:N62K	N	+	3	2	PSMB6	4647706	1.000000	0.71417	0.998000	0.56505	0.382000	0.30200	0.864000	0.27926	-0.019000	0.14055	0.533000	0.62120	AAT		0.552	PSMB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207559.2		NM_002798		25	130	0	0	0	0.009535	0	25	130		
NCOR1	9611	broad.mit.edu	37	17	15952254	15952254	+	Nonsense_Mutation	SNP	G	G	C	rs144480346	byFrequency	TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:15952254G>C	ENST00000268712.3	-	41	6698	c.6441C>G	c.(6439-6441)taC>taG	p.Y2147*	NCOR1_ENST00000395851.1_Nonsense_Mutation_p.Y2044*|NCOR1_ENST00000395857.3_Nonsense_Mutation_p.Y731*	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2147	Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.Y2147*(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AGATGGGCTCGTAGGGCTCCG	0.522																																						uc002gpo.2		NaN																	1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(6439-6441)TAC>TAG		nuclear receptor co-repressor 1							82.0	74.0	77.0					17																	15952254		2203	4300	6503	SO:0001587	stop_gained	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15952254G>C	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.6441C>G	17.37:g.15952254G>C	ENSP00000268712:p.Tyr2147*					NCOR1_uc002gpn.2_Nonsense_Mutation_p.Y2044*|NCOR1_uc002gpl.2_Nonsense_Mutation_p.Y162*|NCOR1_uc002gpm.2_Nonsense_Mutation_p.Y667*|NCOR1_uc010vwb.1_Nonsense_Mutation_p.Y731*|NCOR1_uc010coy.2_Nonsense_Mutation_p.Y1055*|NCOR1_uc010vwc.1_Nonsense_Mutation_p.Y957*	p.Y2147*	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	41	6681	-			2147			Interaction with C1D (By similarity).		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Nonsense_Mutation	SNP	ENST00000268712.3	37	c.6441C>G	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.901802	0.72754	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	.	.	.	5.59	0.534	0.17127	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-5.9972	8.5875	0.33666	0.5028:0.0:0.4972:0.0	.	.	.	.	X	2147;2044;2051;731	.	ENSP00000268712:Y2147X	Y	-	3	2	NCOR1	15892979	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	0.925000	0.28791	-0.126000	0.11682	-0.136000	0.14681	TAC		0.522	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5		NM_006311		18	102	0	0	0	0.014323	0	18	102		
MAPK7	5598	broad.mit.edu	37	17	19284405	19284405	+	Silent	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:19284405C>A	ENST00000308406.5	+	4	1269	c.883C>A	c.(883-885)Cgg>Agg	p.R295R	MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395604.3_Silent_p.R295R|MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000299612.7_Silent_p.R156R|B9D1_ENST00000477478.2_5'Flank|MAPK7_ENST00000395602.4_Silent_p.R295R|B9D1_ENST00000575403.1_5'Flank	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	295	Necessary for oligomerization. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					TGAGAGGGTGCGGGCCTATAT	0.607																																						uc002gvn.2		NaN																	0				central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9						c.(883-885)CGG>AGG		mitogen-activated protein kinase 7 isoform 1							42.0	44.0	43.0					17																	19284405		2203	4300	6503	SO:0001819	synonymous_variant	5598				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	g.chr17:19284405C>A	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"""Mitogen-activated protein kinase cascade / Kinases"""	6880	protein-coding gene	gene with protein product	"""BMK1 kinase"", ""extracellular-signal-regulated kinase 5"""	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.883C>A	17.37:g.19284405C>A						B9D1_uc010cqm.1_5'Flank|B9D1_uc002gvl.3_5'Flank|MAPK7_uc002gvo.2_Silent_p.R156R|MAPK7_uc002gvq.2_Silent_p.R295R|MAPK7_uc002gvp.2_Silent_p.R295R	p.R295R	NM_139033	NP_620602	Q13164	MK07_HUMAN			4	1269	+	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		295			Necessary for oligomerization (By similarity).|Protein kinase.		Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Silent	SNP	ENST00000308406.5	37	c.883C>A	CCDS11206.1																																																																																				0.607	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1		NM_139033		8	68	1	0	4.68919e-08	0.008291	4.99668e-08	8	68		
SLFN12L	100506736	broad.mit.edu	37	17	33806548	33806548	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:33806548G>C	ENST00000260908.7	-	2	798	c.681C>G	c.(679-681)ttC>ttG	p.F227L	SLFN12L_ENST00000361112.4_Missense_Mutation_p.F256L|RP11-686D22.9_ENST00000587076.1_RNA|SLFN12L_ENST00000449046.1_Missense_Mutation_p.F258L	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	227						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						TTTCAGTCGAGAAGTTTTTTA	0.343																																						uc002hjn.2		NaN																	0				ovary(1)	1						c.(766-768)TTC>TTG		schlafen family member 12-like							103.0	83.0	89.0					17																	33806548		692	1591	2283	SO:0001583	missense	342615							g.chr17:33806548G>C	AK172761	CCDS56026.1	17q12	2011-05-24				ENSG00000205045			33920	protein-coding gene	gene with protein product		614956				9846487	Standard	NM_001195790		Approved		uc021tuy.1	Q6IEE8		ENST00000260908.7:c.681C>G	17.37:g.33806548G>C	ENSP00000437635:p.Phe227Leu						p.F256L	NM_001145027	NP_001138499					3	1647	-								F5H6G3	Missense_Mutation	SNP	ENST00000260908.7	37	c.768C>G	CCDS56026.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.110543	0.37242	.	.	ENSG00000205045	ENST00000260908;ENST00000361112;ENST00000449046	T;T;T	0.29142	1.58;1.58;1.58	2.62	0.504	0.16946	.	.	.	.	.	T	0.32255	0.0823	L	0.33339	1.005	0.09310	N	1	D	0.64830	0.994	P	0.58520	0.84	T	0.12477	-1.0546	9	0.59425	D	0.04	.	3.9262	0.09265	0.4122:0.0:0.5878:0.0	.	256	Q6IEE8-2	.	L	227;256;258	ENSP00000437635:F227L;ENSP00000354412:F256L;ENSP00000389348:F258L	ENSP00000437635:F227L	F	-	3	2	SLFN12L	30830661	0.016000	0.18221	0.001000	0.08648	0.010000	0.07245	0.756000	0.26419	0.391000	0.25143	0.411000	0.27672	TTC		0.343	SLFN12L-004	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395748.2		XM_496206		5	65	0	0	0	0.001168	0	5	65		
RAPGEFL1	51195	broad.mit.edu	37	17	38346912	38346912	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:38346912C>T	ENST00000456989.2	+	8	826	c.780C>T	c.(778-780)atC>atT	p.I260I	RAPGEFL1_ENST00000264644.6_Silent_p.I205I|RAPGEFL1_ENST00000544503.1_Silent_p.I254I|RAPGEFL1_ENST00000436615.3_Silent_p.I205I|RAPGEFL1_ENST00000540388.1_3'UTR			Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	411					G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CCGAGGAGATCCAGGTCTCCC	0.637																																					Esophageal Squamous(28;274 750 6870 14218 42203)	uc010cwu.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(613-615)ATC>ATT		Rap guanine nucleotide exchange factor							95.0	89.0	91.0					17																	38346912		2203	4300	6503	SO:0001819	synonymous_variant	51195				G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity	g.chr17:38346912C>T	AF117946	CCDS11363.1	17q21.2	2006-08-01	2004-03-26		ENSG00000108352	ENSG00000108352			17428	protein-coding gene	gene with protein product	"""Link guanine nucleotide exchange factor II"""		"""RAP guanine-nucleotide-exchange factor (GEF)-like 1"""				Standard	NM_016339		Approved	Link-GEFII	uc010cwu.1	Q9UHV5	OTTHUMG00000133325	ENST00000456989.2:c.780C>T	17.37:g.38346912C>T						RAPGEFL1_uc010wfd.1_Silent_p.I141I	p.I205I	NM_016339	NP_057423	Q9UHV5	RPGFL_HUMAN			8	1105	+			411						Silent	SNP	ENST00000456989.2	37	c.615C>T																																																																																					0.637	RAPGEFL1-005	PUTATIVE	non_canonical_conserved|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000397518.1		NM_016339		40	146	0	0	0	0.009718	0	40	146		
ITGA2B	3674	broad.mit.edu	37	17	42462686	42462686	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:42462686A>T	ENST00000262407.5	-	5	623	c.592T>A	c.(592-594)Tgt>Agt	p.C198S	ITGA2B_ENST00000353281.4_Missense_Mutation_p.C198S|ITGA2B_ENST00000377068.3_5'UTR	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	198					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	CCCGCTTCACAGTAACGCTTG	0.682																																						uc002igt.1		NaN																	0				ovary(2)|lung(1)	3						c.(592-594)TGT>AGT		integrin alpha 2b preproprotein	Tirofiban(DB00775)						22.0	21.0	21.0					17																	42462686		2201	4292	6493	SO:0001583	missense	3674				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	g.chr17:42462686A>T		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.592T>A	17.37:g.42462686A>T	ENSP00000262407:p.Cys198Ser						p.C198S	NM_000419	NP_000410	P08514	ITA2B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.191)	5	624	-		Prostate(33;0.0181)	198			FG-GAP 3.|Extracellular (Potential).		B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	ENST00000262407.5	37	c.592T>A	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	A	18.89	3.719437	0.68844	.	.	ENSG00000005961	ENST00000262407;ENST00000353281	T;T	0.70282	-0.47;-0.47	5.58	5.58	0.84498	.	0.202122	0.24669	N	0.036578	T	0.80964	0.4725	M	0.91196	3.185	0.80722	D	1	D	0.63046	0.992	P	0.49502	0.613	D	0.85481	0.1179	10	0.87932	D	0	.	12.131	0.53942	1.0:0.0:0.0:0.0	.	198	P08514	ITA2B_HUMAN	S	198	ENSP00000262407:C198S;ENSP00000340536:C198S	ENSP00000262407:C198S	C	-	1	0	ITGA2B	39818212	1.000000	0.71417	1.000000	0.80357	0.491000	0.33493	6.161000	0.71868	2.112000	0.64535	0.418000	0.28097	TGT		0.682	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1				3	27	0	0	0	0.009096	0	3	27		
OSBPL7	114881	broad.mit.edu	37	17	45891068	45891068	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:45891068G>A	ENST00000007414.3	-	15	1675	c.1484C>T	c.(1483-1485)tCa>tTa	p.S495L	OSBPL7_ENST00000392507.3_Missense_Mutation_p.S495L	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	495					cellular response to cholesterol (GO:0071397)|lipid transport (GO:0006869)|positive regulation of proteasomal protein catabolic process (GO:1901800)	autophagic vacuole (GO:0005776)|cytosol (GO:0005829)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						CACAGGCATTGACACCTTGGA	0.662																																						uc002ilx.1		NaN																	0					0						c.(1483-1485)TCA>TTA		oxysterol-binding protein-like protein 7							64.0	59.0	61.0					17																	45891068		2203	4300	6503	SO:0001583	missense	114881				lipid transport		lipid binding	g.chr17:45891068G>A	AF392446	CCDS11515.1	17q21	2013-01-10				ENSG00000006025		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16387	protein-coding gene	gene with protein product		606735				14593528, 11735225	Standard	NM_145798		Approved	ORP7, MGC71150	uc002ilx.1	Q9BZF2		ENST00000007414.3:c.1484C>T	17.37:g.45891068G>A	ENSP00000007414:p.Ser495Leu					OSBPL7_uc002ilw.1_Missense_Mutation_p.S57L	p.S495L	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN			15	1687	-			495					D3DTT6|Q6PIV6	Missense_Mutation	SNP	ENST00000007414.3	37	c.1484C>T	CCDS11515.1	.	.	.	.	.	.	.	.	.	.	G	35	5.505400	0.96371	.	.	ENSG00000006025	ENST00000007414;ENST00000392507	T;T	0.35421	1.31;1.31	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.69396	0.3106	M	0.93594	3.435	0.80722	D	1	D	0.64830	0.994	D	0.66716	0.946	T	0.78894	-0.2024	10	0.72032	D	0.01	-9.5746	17.4067	0.87475	0.0:0.0:1.0:0.0	.	495	Q9BZF2	OSBL7_HUMAN	L	495	ENSP00000007414:S495L;ENSP00000376295:S495L	ENSP00000007414:S495L	S	-	2	0	OSBPL7	43246067	1.000000	0.71417	0.988000	0.46212	0.977000	0.68977	9.670000	0.98625	2.385000	0.81259	0.591000	0.81541	TCA		0.662	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441367.1		NM_017731		7	83	0	0	0	0.00308	0	7	83		
SLC35B1	10237	broad.mit.edu	37	17	47784399	47784399	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:47784399G>T	ENST00000240333.6	-	2	257	c.136C>A	c.(136-138)Cag>Aag	p.Q46K	SLC35B1_ENST00000415270.2_Missense_Mutation_p.Q83K|RP11-613C6.2_ENST00000512720.1_RNA			P78383	S35B1_HUMAN	solute carrier family 35, member B1	46					transport (GO:0006810)|UDP-galactose transmembrane transport (GO:0072334)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	UDP-galactose transmembrane transporter activity (GO:0005459)			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						AACGTCTCCTGCTTGGCTCCT	0.403																																						uc002iph.1		NaN																	0					0						c.(136-138)CAG>AAG		solute carrier family 35, member B1							230.0	182.0	198.0					17																	47784399		2203	4300	6503	SO:0001583	missense	10237					endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity	g.chr17:47784399G>T	D16978	CCDS11552.1, CCDS11552.2	17q21.32	2013-05-22			ENSG00000121073	ENSG00000121073		"""Solute carriers"""	20798	protein-coding gene	gene with protein product		610790				9010752	Standard	NM_005827		Approved	UGTREL1	uc002iph.1	P78383	OTTHUMG00000161638	ENST00000240333.6:c.136C>A	17.37:g.47784399G>T	ENSP00000240333:p.Gln46Lys					SLC35B1_uc002ipi.1_5'UTR|SLC35B1_uc002ipj.1_5'UTR|SLC35B1_uc010wly.1_Missense_Mutation_p.Q46K	p.Q46K	NM_005827	NP_005818	P78383	S35B1_HUMAN			2	223	-			46					B4DEC4|J3KQV4|Q96EW7	Missense_Mutation	SNP	ENST00000240333.6	37	c.136C>A	CCDS11552.1	.	.	.	.	.	.	.	.	.	.	G	4.768	0.142830	0.09083	.	.	ENSG00000121073	ENST00000240333;ENST00000415270;ENST00000376622;ENST00000508520;ENST00000435059;ENST00000514907;ENST00000515850	T;T;T;T;T	0.39997	1.61;1.6;1.58;1.58;1.05	4.48	4.48	0.54585	.	0.060090	0.64402	D	0.000003	T	0.18087	0.0434	N	0.02129	-0.67	0.44323	D	0.997209	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.0	T	0.12915	-1.0529	10	0.07813	T	0.8	-2.5773	16.934	0.86198	0.0:0.0:1.0:0.0	.	46;46	B4DJG9;P78383	.;S35B1_HUMAN	K	46;83;75;49;46;15;80	ENSP00000240333:Q46K;ENSP00000409548:Q83K;ENSP00000424367:Q49K;ENSP00000426961:Q15K;ENSP00000427689:Q80K	ENSP00000240333:Q46K	Q	-	1	0	SLC35B1	45139398	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.083000	0.64456	2.294000	0.77228	0.655000	0.94253	CAG		0.403	SLC35B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365564.2		NM_005827		25	183	1	0	2.85442e-18	0.010818	3.21475e-18	25	183		
ABCC3	8714	broad.mit.edu	37	17	48752728	48752728	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:48752728G>A	ENST00000285238.8	+	20	2685	c.2605G>A	c.(2605-2607)Gaa>Aaa	p.E869K	ABCC3_ENST00000510891.1_3'UTR	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	869					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	TGCAGCGTTGGAAGGTGCAGA	0.522																																						uc002isl.2		NaN																	0				skin(3)|central_nervous_system(1)	4						c.(2605-2607)GAA>AAA		ATP-binding cassette, sub-family C, member 3	Glibenclamide(DB01016)						127.0	105.0	112.0					17																	48752728		2203	4300	6503	SO:0001583	missense	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48752728G>A	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.2605G>A	17.37:g.48752728G>A	ENSP00000285238:p.Glu869Lys						p.E869K	NM_003786	NP_003777	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		20	2685	+			869			Cytoplasmic (By similarity).		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	c.2605G>A	CCDS32681.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.82|11.82	1.751631|1.751631	0.31046|0.31046	.|.	.|.	ENSG00000108846|ENSG00000108846	ENST00000285238|ENST00000513745	D|.	0.89746|.	-2.56|.	5.51|5.51	2.32|2.32	0.28847|0.28847	.|.	2.288620|.	0.01945|.	N|.	0.042220|.	T|T	0.36082|0.36082	0.0954|0.0954	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	0.999999|0.999999	B|.	0.20887|.	0.049|.	B|.	0.19666|.	0.026|.	T|T	0.22277|0.22277	-1.0221|-1.0221	10|5	0.11485|.	T|.	0.65|.	-3.5586|-3.5586	14.9865|14.9865	0.71351|0.71351	0.0:0.3008:0.6992:0.0|0.0:0.3008:0.6992:0.0	.|.	869|.	O15438|.	MRP3_HUMAN|.	K|E	869|17	ENSP00000285238:E869K|.	ENSP00000285238:E869K|.	E|G	+|+	1|2	0|0	ABCC3|ABCC3	46107727|46107727	0.084000|0.084000	0.21492|0.21492	0.014000|0.014000	0.15608|0.15608	0.010000|0.010000	0.07245|0.07245	0.832000|0.832000	0.27490|0.27490	0.389000|0.389000	0.25086|0.25086	0.561000|0.561000	0.74099|0.74099	GAA|GGA		0.522	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2		NM_020038		5	84	0	0	0	0.000602	0	5	84		
EFCAB3	146779	broad.mit.edu	37	17	60470976	60470976	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:60470976C>G	ENST00000305286.3	+	5	416	c.338C>G	c.(337-339)aCa>aGa	p.T113R	EFCAB3_ENST00000450662.2_Missense_Mutation_p.T165R	NM_173503.3	NP_775774.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	113	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			AAGGTTCTAACAGATAAGAAT	0.408																																						uc002izu.1		NaN																	0				skin(1)	1						c.(337-339)ACA>AGA		EF-hand calcium binding domain 3 isoform b							91.0	85.0	87.0					17																	60470976		2203	4300	6503	SO:0001583	missense	146779						calcium ion binding	g.chr17:60470976C>G	AK098684	CCDS11632.1, CCDS45751.1	17q23.3	2013-01-10			ENSG00000172421	ENSG00000172421		"""EF-hand domain containing"""	26379	protein-coding gene	gene with protein product						12477932	Standard	NM_173503		Approved	FLJ25818	uc010wpc.2	Q8N7B9	OTTHUMG00000179175	ENST00000305286.3:c.338C>G	17.37:g.60470976C>G	ENSP00000302649:p.Thr113Arg					EFCAB3_uc010wpc.1_Missense_Mutation_p.T165R	p.T113R	NM_173503	NP_775774	Q8N7B9	EFCB3_HUMAN	BRCA - Breast invasive adenocarcinoma(2;2.27e-11)		5	416	+			113			EF-hand 2.		J3KQM8	Missense_Mutation	SNP	ENST00000305286.3	37	c.338C>G	CCDS11632.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.082402	0.76528	.	.	ENSG00000172421	ENST00000450662;ENST00000305286;ENST00000520404;ENST00000518576	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.82	5.82	0.92795	EF-hand-like domain (1);	0.000000	0.64402	D	0.000004	D	0.84665	0.5522	L	0.48260	1.515	0.43868	D	0.996475	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85442	0.1155	10	0.87932	D	0	.	15.5954	0.76574	0.0:1.0:0.0:0.0	.	113;113	E5RJB7;Q8N7B9	.;EFCB3_HUMAN	R	165;113;113;113	ENSP00000403932:T165R;ENSP00000302649:T113R;ENSP00000429124:T113R;ENSP00000428626:T113R	ENSP00000302649:T113R	T	+	2	0	EFCAB3	57824708	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	1.720000	0.38022	2.767000	0.95098	0.655000	0.94253	ACA		0.408	EFCAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379114.1		NM_173503		20	83	0	0	0	0.004656	0	20	83		
DCAF7	10238	broad.mit.edu	37	17	61662585	61662585	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:61662585G>C	ENST00000310827.4	+	7	968	c.751G>C	c.(751-753)Gat>Cat	p.D251H	DCAF7_ENST00000577702.1_3'UTR|DCAF7_ENST00000415273.2_Missense_Mutation_p.D51H|DCAF7_ENST00000431926.1_Intron	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7	251					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						GGTGATTCTAGATGTCCGGGT	0.443																																						uc002jbc.2		NaN																	0				ovary(1)	1						c.(751-753)GAT>CAT		WD-repeat protein							95.0	92.0	93.0					17																	61662585		1894	4125	6019	SO:0001583	missense	10238				multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding	g.chr17:61662585G>C	U94747	CCDS74127.1	17q23.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000136485		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30915	protein-coding gene	gene with protein product	"""seven-WD-repeat protein of the AN11 family-1"", ""human anthocyanin"""	605973	"""WD repeat domain 68"""	WDR68		9192870, 20940704	Standard	NM_005828		Approved	HAN11, SWAN-1	uc002jbc.4	P61962		ENST00000310827.4:c.751G>C	17.37:g.61662585G>C	ENSP00000308344:p.Asp251His					DCAF7_uc002jbb.2_RNA|DCAF7_uc010wpn.1_Missense_Mutation_p.D51H	p.D251H	NM_005828	NP_005819	P61962	DCAF7_HUMAN			7	968	+			251					B4E039|D3DU14|O15491|Q9DAE4	Missense_Mutation	SNP	ENST00000310827.4	37	c.751G>C		.	.	.	.	.	.	.	.	.	.	G	27.0	4.788222	0.90367	.	.	ENSG00000136485	ENST00000310827;ENST00000415273	T;T	0.74421	-0.84;0.99	5.19	5.19	0.71726	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	D	0.87321	0.6148	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88605	0.3152	9	0.87932	D	0	-26.76	18.8923	0.92410	0.0:0.0:1.0:0.0	.	51;251	B4E039;P61962	.;DCAF7_HUMAN	H	251;51	ENSP00000308344:D251H;ENSP00000403920:D51H	ENSP00000308344:D251H	D	+	1	0	DCAF7	59016317	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.615000	0.98356	2.698000	0.92095	0.561000	0.74099	GAT		0.443	DCAF7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_005828		7	139	0	0	0	0.006214	0	7	139		
CD79B	974	broad.mit.edu	37	17	62007656	62007656	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:62007656C>T	ENST00000006750.3	-	3	300	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	CD79B_ENST00000349817.2_Intron|CD79B_ENST00000392795.3_Missense_Mutation_p.A71T	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN	CD79b molecule, immunoglobulin-associated beta	70	Ig-like V-type.				B cell receptor signaling pathway (GO:0050853)|immune response (GO:0006955)|signal transduction (GO:0007165)	B cell receptor complex (GO:0019815)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						TTGCCGGAGGCGCTGTTCATG	0.572			"""Mis, O"""		DLBCL																																	uc002jdq.1		NaN		Dom	yes		17	17q23	974	Mis|O	"""CD79b molecule, immunoglobulin-associated beta"""			L			DLBCL		0					0						c.(208-210)GCC>ACC		CD79B antigen isoform 1 precursor							96.0	83.0	87.0					17																	62007656		2203	4300	6503	SO:0001583	missense	974				cell surface receptor linked signaling pathway|immune response	Golgi apparatus|integral to plasma membrane|nucleus	transmembrane receptor activity	g.chr17:62007656C>T	L27587	CCDS11655.1, CCDS11656.1, CCDS42372.1	17q23	2014-09-17	2006-03-28			ENSG00000007312		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1699	protein-coding gene	gene with protein product		147245	"""CD79B antigen (immunoglobulin-associated beta)"""	IGB		9545642	Standard	XM_005257858		Approved	B29	uc002jdp.1	P40259		ENST00000006750.3:c.208G>A	17.37:g.62007656C>T	ENSP00000006750:p.Ala70Thr					CD79B_uc002jdo.1_Missense_Mutation_p.A44T|CD79B_uc002jdp.1_Missense_Mutation_p.A71T|CD79B_uc002jdr.1_Intron	p.A70T	NM_000626	NP_000617	P40259	CD79B_HUMAN			3	291	-			70			Extracellular (Potential).|Ig-like V-type.		Q53FS2|Q9BU06	Missense_Mutation	SNP	ENST00000006750.3	37	c.208G>A	CCDS11655.1	.	.	.	.	.	.	.	.	.	.	C	3.050	-0.195575	0.06259	.	.	ENSG00000007312	ENST00000392795;ENST00000006750	T;T	0.65549	-0.16;-0.16	5.71	-11.4	0.00090	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.675820	0.01041	N	0.004309	T	0.26122	0.0637	N	0.02539	-0.55	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.33701	-0.9858	10	0.15066	T	0.55	0.0296	2.224	0.03980	0.1317:0.1427:0.2762:0.4494	.	70	P40259	CD79B_HUMAN	T	71;70	ENSP00000376544:A71T;ENSP00000006750:A70T	ENSP00000006750:A70T	A	-	1	0	CD79B	59361388	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-4.025000	0.00311	-5.653000	0.00011	-0.340000	0.08031	GCC		0.572	CD79B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417711.1				5	58	0	0	0	0.000602	0	5	58		
PRKCA	5578	broad.mit.edu	37	17	64637500	64637500	+	Missense_Mutation	SNP	A	A	T	rs201729185		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:64637500A>T	ENST00000413366.3	+	4	342	c.316A>T	c.(316-318)Atc>Ttc	p.I106F	RNA5SP445_ENST00000515889.1_RNA	NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	106					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	CAAGTTCAAAATCCACACTTA	0.458																																						uc002jfp.1		NaN																	0				central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1)	9						c.(316-318)ATC>TTC		protein kinase C, alpha	Phosphatidylserine(DB00144)|Vitamin E(DB00163)						222.0	183.0	196.0					17																	64637500		2203	4300	6503	SO:0001583	missense	5578				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	g.chr17:64637500A>T		CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.316A>T	17.37:g.64637500A>T	ENSP00000408695:p.Ile106Phe					PRKCA_uc002jfo.1_5'UTR	p.I106F	NM_002737	NP_002728	P17252	KPCA_HUMAN	BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		4	360	+			106			Phorbol-ester/DAG-type 2.		B5BU22|Q15137|Q32M72|Q96RE4	Missense_Mutation	SNP	ENST00000413366.3	37	c.316A>T	CCDS11664.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.217291	0.79352	.	.	ENSG00000154229	ENST00000413366;ENST00000284384	D	0.92911	-3.13	6.04	6.04	0.98038	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	D	0.000000	D	0.89904	0.6850	L	0.46614	1.455	0.80722	D	1	B	0.28971	0.229	B	0.29524	0.103	D	0.88217	0.2894	10	0.66056	D	0.02	.	16.2497	0.82475	1.0:0.0:0.0:0.0	.	106	P17252	KPCA_HUMAN	F	106;13	ENSP00000408695:I106F	ENSP00000284384:I13F	I	+	1	0	PRKCA	62067962	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.749000	0.68704	2.317000	0.78254	0.459000	0.35465	ATC		0.458	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1				49	216	0	0	0	0.01441	0	49	216		
FDXR	2232	broad.mit.edu	37	17	72860379	72860379	+	Missense_Mutation	SNP	G	G	A	rs372851948	byFrequency	TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:72860379G>A	ENST00000293195.5	-	9	971	c.893C>T	c.(892-894)tCg>tTg	p.S298L	FDXR_ENST00000442102.2_Missense_Mutation_p.S341L|FDXR_ENST00000413947.2_Missense_Mutation_p.S329L|FDXR_ENST00000581530.1_Missense_Mutation_p.S304L|FDXR_ENST00000581969.1_5'Flank|FDXR_ENST00000544854.1_Missense_Mutation_p.S246L|FDXR_ENST00000582944.1_Missense_Mutation_p.S290L|FDXR_ENST00000420580.2_Missense_Mutation_p.S258L|FDXR_ENST00000583917.1_Missense_Mutation_p.S270L|FDXR_ENST00000455107.2_Missense_Mutation_p.S254L|GRIN2C_ENST00000578159.1_5'Flank	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	298					cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)				Flavin adenine dinucleotide(DB03147)	ACGGGAGGCCGATGCCTGGCG	0.692													G|||	3	0.000599042	0.0	0.0	5008	,	,		14051	0.0		0.0	False		,,,				2504	0.0031					uc002jly.2		NaN																	0					0						c.(892-894)TCG>TTG		ferredoxin reductase isoform 1 precursor		G	LEU/SER,LEU/SER	1,4357		0,1,2178	17.0	21.0	20.0		911,893	-5.5	0.0	17		20	2,8520		0,2,4259	no	missense,missense	FDXR	NM_004110.3,NM_024417.2	145,145	0,3,6437	AA,AG,GG		0.0235,0.0229,0.0233	benign,benign	304/498,298/492	72860379	3,12877	2179	4261	6440	SO:0001583	missense	2232				cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding	g.chr17:72860379G>A	J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	1.18.1.6		3642	protein-coding gene	gene with protein product	"""adrenodoxin-NADP(+) reductase"", ""adrenodoxin reductase"""	103270		ADXR		2969697	Standard	NM_001258014		Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000293195.5:c.893C>T	17.37:g.72860379G>A	ENSP00000293195:p.Ser298Leu					FDXR_uc010wri.1_Missense_Mutation_p.S246L|FDXR_uc010wrj.1_Missense_Mutation_p.S296L|FDXR_uc002jlw.2_Missense_Mutation_p.S55L|FDXR_uc002jlx.2_Missense_Mutation_p.S304L|FDXR_uc002jmc.2_Missense_Mutation_p.S270L|FDXR_uc010wrk.1_Missense_Mutation_p.S329L|FDXR_uc010wrl.1_Missense_Mutation_p.S341L|FDXR_uc002jma.2_Missense_Mutation_p.S299L|FDXR_uc010wrm.1_Missense_Mutation_p.S258L|FDXR_uc002jlz.2_Missense_Mutation_p.S290L|FDXR_uc002jmb.2_RNA	p.S298L	NM_024417	NP_077728	P22570	ADRO_HUMAN			9	980	-	all_lung(278;0.172)|Lung NSC(278;0.207)		298					B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Missense_Mutation	SNP	ENST00000293195.5	37	c.893C>T	CCDS58593.1	.	.	.	.	.	.	.	.	.	.	G	4.224	0.040522	0.08196	2.29E-4	2.35E-4	ENSG00000161513	ENST00000420580;ENST00000544854;ENST00000293195;ENST00000455107;ENST00000442102;ENST00000413947	T;T;T;T;T	0.34472	1.36;1.36;2.95;1.36;1.36	4.58	-5.47	0.02600	.	1.809230	0.02530	N	0.093553	T	0.23171	0.0560	L	0.37561	1.115	0.09310	N	1	B;B;B;B;B;B;B;B;B;B	0.15141	0.002;0.005;0.009;0.002;0.012;0.004;0.003;0.005;0.003;0.004	B;B;B;B;B;B;B;B;B;B	0.10450	0.001;0.005;0.001;0.001;0.002;0.002;0.001;0.001;0.001;0.002	T	0.10567	-1.0624	10	0.30854	T	0.27	1.8293	2.0984	0.03674	0.2904:0.0947:0.4262:0.1887	.	258;341;329;296;246;329;298;290;298;304	B4DQQ4;B4DHX5;E7EQC1;B4DDI9;B7Z7G2;B4DDI7;Q6GSK2;B4DX24;P22570;P22570-2	.;.;.;.;.;.;.;.;ADRO_HUMAN;.	L	258;246;304;254;341;329	ENSP00000414172:S258L;ENSP00000445432:S246L;ENSP00000390875:S254L;ENSP00000416515:S341L;ENSP00000408595:S329L	ENSP00000293195:S304L	S	-	2	0	FDXR	70371974	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.009000	0.03660	-0.714000	0.04975	-0.258000	0.10820	TCG		0.692	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000444449.1		NM_004110		10	46	0	0	0	0.008291	0	10	46		
GGA3	23163	broad.mit.edu	37	17	73239236	73239236	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:73239236A>T	ENST00000245541.6	-	6	652	c.436T>A	c.(436-438)Tct>Act	p.S146T	GGA3_ENST00000537686.1_Intron|GGA3_ENST00000582486.1_Missense_Mutation_p.S74T|GGA3_ENST00000538886.1_Missense_Mutation_p.S24T|GGA3_ENST00000351904.7_Missense_Mutation_p.S113T|GGA3_ENST00000578348.1_Missense_Mutation_p.S24T|GGA3_ENST00000579743.1_5'Flank|GGA3_ENST00000582717.1_Missense_Mutation_p.S74T	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	146	Binds to ARF1 (in long isoform).|VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			GGTGGGTCAGACTGCACTATG	0.542																																						uc002jni.1		NaN																	0				ovary(1)|breast(1)	2						c.(436-438)TCT>ACT		ADP-ribosylation factor binding protein 3							198.0	162.0	174.0					17																	73239236		2203	4300	6503	SO:0001583	missense	23163				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	g.chr17:73239236A>T	AF190864	CCDS11716.1, CCDS11717.1, CCDS54164.1, CCDS58597.1	17q25	2010-02-12	2010-02-12			ENSG00000125447			17079	protein-coding gene	gene with protein product		606006				10747089, 10749927	Standard	NR_033345		Approved	KIAA0154	uc002jni.2	Q9NZ52		ENST00000245541.6:c.436T>A	17.37:g.73239236A>T	ENSP00000245541:p.Ser146Thr					GGA3_uc002jnj.1_Missense_Mutation_p.S113T|GGA3_uc010wrw.1_Missense_Mutation_p.S24T|GGA3_uc002jnk.1_Missense_Mutation_p.S74T|GGA3_uc010wrx.1_Missense_Mutation_p.S24T|GGA3_uc010wry.1_Missense_Mutation_p.S74T|GGA3_uc010wrz.1_Intron	p.S146T	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)		6	445	-			146			VHS.|Binds to ARF1 (in long isoform).		B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3	Missense_Mutation	SNP	ENST00000245541.6	37	c.436T>A	CCDS11717.1	.	.	.	.	.	.	.	.	.	.	A	11.16	1.557789	0.27827	.	.	ENSG00000125447	ENST00000245541;ENST00000351904;ENST00000537584;ENST00000538886	T;T	0.43294	2.28;0.95	4.85	3.75	0.43078	ENTH/VHS (1);VHS (1);	0.446473	0.24224	N	0.040415	T	0.30541	0.0768	L	0.44542	1.39	0.19300	N	0.999979	B;B;B	0.18863	0.031;0.0;0.0	B;B;B	0.19666	0.006;0.026;0.001	T	0.20075	-1.0286	10	0.17832	T	0.49	-18.2496	7.1602	0.25659	0.7006:0.1531:0.0:0.1463	.	24;113;146	B7Z7E2;Q9NZ52-2;Q9NZ52	.;.;GGA3_HUMAN	T	146;113;74;24	ENSP00000245541:S146T;ENSP00000326575:S113T	ENSP00000245541:S146T	S	-	1	0	GGA3	70750831	0.009000	0.17119	0.997000	0.53966	0.986000	0.74619	1.358000	0.34102	0.849000	0.35215	0.460000	0.39030	TCT		0.542	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446645.1		NM_138619		19	151	0	0	0	0.012319	0	19	151		
SRP68	6730	broad.mit.edu	37	17	74066468	74066468	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:74066468T>C	ENST00000307877.2	-	2	403	c.242A>G	c.(241-243)cAg>cGg	p.Q81R	SRP68_ENST00000539137.1_Missense_Mutation_p.Q81R|SRP68_ENST00000355113.5_Intron	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	81					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						CCTGTACCTCTGAAAATCTCC	0.373																																						uc002jqk.1		NaN																	0				ovary(1)	1						c.(241-243)CAG>CGG		signal recognition particle 68kDa							125.0	109.0	114.0					17																	74066468		2203	4300	6503	SO:0001583	missense	6730				response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	g.chr17:74066468T>C	AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.242A>G	17.37:g.74066468T>C	ENSP00000312066:p.Gln81Arg					SRP68_uc010wsu.1_Intron|SRP68_uc002jql.1_Missense_Mutation_p.Q81R	p.Q81R	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN			2	277	-			81					B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	ENST00000307877.2	37	c.242A>G	CCDS11738.1	.	.	.	.	.	.	.	.	.	.	T	17.02	3.281190	0.59758	.	.	ENSG00000167881	ENST00000539137;ENST00000540937;ENST00000307877;ENST00000304220	T	0.32272	1.46	4.14	4.14	0.48551	.	0.210379	0.45867	D	0.000321	T	0.31796	0.0808	M	0.64997	1.995	0.80722	D	1	B;B	0.12630	0.006;0.0	B;B	0.12837	0.008;0.003	T	0.11690	-1.0577	10	0.33940	T	0.23	-23.7252	13.8894	0.63729	0.0:0.0:0.0:1.0	.	81;81	G3V1U4;Q9UHB9	.;SRP68_HUMAN	R	81	ENSP00000446136:Q81R	ENSP00000307756:Q81R	Q	-	2	0	SRP68	71578063	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.460000	0.80816	1.823000	0.53134	0.374000	0.22700	CAG		0.373	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1		NM_014230		11	67	0	0	0	0.003163	0	11	67		
MYOM1	8736	broad.mit.edu	37	18	3187533	3187533	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr18:3187533C>A	ENST00000356443.4	-	5	1207	c.874G>T	c.(874-876)Gag>Tag	p.E292*	MYOM1_ENST00000400569.3_Nonsense_Mutation_p.E292*|MYOM1_ENST00000261606.7_Nonsense_Mutation_p.E292*|RP13-270P17.2_ENST00000580139.1_RNA	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	292	Ig-like C2-type 1.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTTACATTCTCCTTCTCCCAA	0.433																																						uc002klp.2		NaN																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(874-876)GAG>TAG		myomesin 1 isoform a							152.0	145.0	147.0					18																	3187533		1980	4152	6132	SO:0001587	stop_gained	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3187533C>A	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.874G>T	18.37:g.3187533C>A	ENSP00000348821:p.Glu292*					MYOM1_uc002klq.2_Nonsense_Mutation_p.E292*	p.E292*	NM_003803	NP_003794	P52179	MYOM1_HUMAN			5	1208	-			292			Ig-like C2-type 1.		Q14BD6|Q6H969|Q6ZUU0	Nonsense_Mutation	SNP	ENST00000356443.4	37	c.874G>T	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	C	41	8.547855	0.98859	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	.	.	.	5.4	4.48	0.54585	.	0.118609	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	17.0819	0.86601	0.0:0.7711:0.2289:0.0	.	.	.	.	X	292	.	ENSP00000261606:E292X	E	-	1	0	MYOM1	3177533	0.998000	0.40836	0.993000	0.49108	0.916000	0.54674	3.017000	0.49615	2.692000	0.91855	0.557000	0.71058	GAG		0.433	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2		NM_003803		8	164	1	0	3.86212e-05	0.008291	3.99378e-05	8	164		
LAMA1	284217	broad.mit.edu	37	18	7044769	7044769	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr18:7044769G>A	ENST00000389658.3	-	7	1021	c.928C>T	c.(928-930)Cag>Tag	p.Q310*		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	310	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CAGGGCTGCTGATGGTACCCA	0.478																																						uc002knm.2		NaN																	0				ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(928-930)CAG>TAG		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						126.0	120.0	122.0					18																	7044769		2203	4300	6503	SO:0001587	stop_gained	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7044769G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.928C>T	18.37:g.7044769G>A	ENSP00000374309:p.Gln310*					LAMA1_uc010wzj.1_5'UTR	p.Q310*	NM_005559	NP_005550	P25391	LAMA1_HUMAN			7	1022	-		Colorectal(10;0.172)	310			Laminin EGF-like 1.			Nonsense_Mutation	SNP	ENST00000389658.3	37	c.928C>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	35	5.467182	0.96257	.	.	ENSG00000101680	ENST00000389658	.	.	.	4.82	4.82	0.62117	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	18.2561	0.90020	0.0:0.0:1.0:0.0	.	.	.	.	X	310	.	ENSP00000374309:Q310X	Q	-	1	0	LAMA1	7034769	1.000000	0.71417	0.994000	0.49952	0.186000	0.23388	9.769000	0.98969	2.375000	0.81037	0.655000	0.94253	CAG		0.478	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1		NM_005559		28	176	0	0	0	0.010818	0	28	176		
TUBB6	84617	broad.mit.edu	37	18	12326037	12326037	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr18:12326037G>A	ENST00000317702.5	+	4	1483	c.1249G>A	c.(1249-1251)Gac>Aac	p.D417N	TUBB6_ENST00000591208.1_3'UTR|TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591909.1_Intron			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	417					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		CAACATGAACGACCTGGTATC	0.557																																						uc002kqw.2		NaN																	0					0						c.(1249-1251)GAC>AAC		tubulin, beta 6							99.0	96.0	97.0					18																	12326037		2203	4300	6503	SO:0001583	missense	84617				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr18:12326037G>A	AK001295	CCDS11858.1	18p11.21	2011-10-10	2011-10-10		ENSG00000176014	ENSG00000176014		"""Tubulins"""	20776	protein-coding gene	gene with protein product	"""tubulin beta MGC4083"", ""class V beta-tubulin"""	615103	"""tubulin, beta 6"""			12477932	Standard	NM_032525		Approved	MGC4083, HsT1601	uc002kqw.3	Q9BUF5	OTTHUMG00000131692	ENST00000317702.5:c.1249G>A	18.37:g.12326037G>A	ENSP00000318697:p.Asp417Asn					TUBB6_uc002kqv.2_Missense_Mutation_p.D345N|TUBB6_uc002kqx.2_Missense_Mutation_p.D380N|TUBB6_uc002kqy.2_Intron	p.D417N	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN		READ - Rectum adenocarcinoma(1;0.0649)	4	1294	+			417					B3KM76|Q9HA42	Missense_Mutation	SNP	ENST00000317702.5	37	c.1249G>A	CCDS11858.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966148	0.74131	.	.	ENSG00000176014	ENST00000317702;ENST00000417736;ENST00000445717	T	0.72835	-0.69	5.41	5.41	0.78517	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87160	0.6108	M	0.90595	3.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.66979	0.948;0.905	D	0.89350	0.3660	10	0.87932	D	0	.	19.5526	0.95328	0.0:0.0:1.0:0.0	.	389;417	B4DP54;Q9BUF5	.;TBB6_HUMAN	N	417;345;389	ENSP00000318697:D417N	ENSP00000318697:D417N	D	+	1	0	TUBB6	12316037	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.675000	0.98638	2.701000	0.92244	0.563000	0.77884	GAC		0.557	TUBB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254600.2		NM_032525		9	201	0	0	0	0.006214	0	9	201		
MIB1	57534	broad.mit.edu	37	18	19321721	19321721	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr18:19321721C>T	ENST00000261537.6	+	1	441	c.177C>T	c.(175-177)aaC>aaT	p.N59N	MIB1_ENST00000578646.1_Intron	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	59	MIB/HERC2 1. {ECO:0000255|PROSITE- ProRule:PRU00749}.				blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			CAGCTGCCAACTACCGCTGCT	0.721																																						uc002ktq.2		NaN																	0				ovary(4)	4						c.(175-177)AAC>AAT		mindbomb homolog 1							28.0	23.0	25.0					18																	19321721		2200	4298	6498	SO:0001819	synonymous_variant	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19321721C>T	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.177C>T	18.37:g.19321721C>T						MIB1_uc002ktp.2_Intron	p.N59N	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		1	177	+			59			MIB/HERC2 1.		B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Silent	SNP	ENST00000261537.6	37	c.177C>T	CCDS11871.1																																																																																				0.721	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1		NM_020774		6	35	0	0	0	0.001168	0	6	35		
DSC3	1825	broad.mit.edu	37	18	28581659	28581659	+	Silent	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr18:28581659C>G	ENST00000360428.4	-	14	2240	c.2160G>C	c.(2158-2160)ggG>ggC	p.G720G	DSC3_ENST00000434452.1_Silent_p.G720G	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	720					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GAAAACGTTTCCCTTTAGTTG	0.284																																						uc002kwj.3		NaN																	0				ovary(2)|skin(2)	4						c.(2158-2160)GGG>GGC		desmocollin 3 isoform Dsc3a preproprotein							89.0	92.0	91.0					18																	28581659		2202	4297	6499	SO:0001819	synonymous_variant	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28581659C>G	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.2160G>C	18.37:g.28581659C>G						DSC3_uc002kwi.3_Silent_p.G720G	p.G720G	NM_001941	NP_001932	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		14	2315	-			720			Cytoplasmic (Potential).		A6NN35|Q14200|Q9HAZ9	Silent	SNP	ENST00000360428.4	37	c.2160G>C	CCDS32810.1																																																																																				0.284	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1		NM_001941, NM_024423		17	115	0	0	0	0.00278	0	17	115		
DSG3	1830	broad.mit.edu	37	18	29049227	29049227	+	Silent	SNP	T	T	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr18:29049227T>G	ENST00000257189.4	+	12	1895	c.1812T>G	c.(1810-1812)ccT>ccG	p.P604P		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	604					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CCACAAGCCCTGGGACCAGGT	0.592																																						uc002kws.2		NaN																	0				skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9						c.(1810-1812)CCT>CCG		desmoglein 3 preproprotein							74.0	71.0	72.0					18																	29049227		2203	4300	6503	SO:0001819	synonymous_variant	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29049227T>G	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1812T>G	18.37:g.29049227T>G							p.P604P	NM_001944	NP_001935	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		12	1921	+			604			Extracellular (Potential).		A8K2V2	Silent	SNP	ENST00000257189.4	37	c.1812T>G	CCDS11898.1																																																																																				0.592	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1		NM_001944		7	91	0	0	0	0.006214	0	7	91		
ATP8B1	5205	broad.mit.edu	37	18	55319836	55319836	+	Silent	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr18:55319836G>C	ENST00000283684.4	-	24	3140	c.3141C>G	c.(3139-3141)ctC>ctG	p.L1047L	RP11-35G9.3_ENST00000592201.1_RNA|ATP8B1_ENST00000536015.1_Silent_p.L1047L|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	1047					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GTATGAAGAAGAGGATCATCG	0.463																																						uc002lgw.2		NaN																	0				breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10						c.(3139-3141)CTC>CTG		ATPase, class I, type 8B, member 1							144.0	130.0	135.0					18																	55319836		2203	4300	6503	SO:0001819	synonymous_variant	5205	Byler_disease			ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55319836G>C	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.3141C>G	18.37:g.55319836G>C						uc002lgu.1_Intron|uc002lgv.1_Intron	p.L1047L	NM_005603	NP_005594	O43520	AT8B1_HUMAN			24	3141	-		Colorectal(73;0.229)	1047			Helical; (Potential).		Q9BTP8	Silent	SNP	ENST00000283684.4	37	c.3141C>G	CCDS11965.1																																																																																				0.463	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1		NM_005603		5	89	0	0	0	0.001984	0	5	89		
VPS4B	9525	broad.mit.edu	37	18	61067362	61067362	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr18:61067362C>G	ENST00000238497.5	-	7	912	c.709G>C	c.(709-711)Gat>Cat	p.D237H	VPS4B_ENST00000591383.1_5'UTR	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	237					ATP catabolic process (GO:0006200)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|intracellular cholesterol transport (GO:0032367)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|response to lipid (GO:0033993)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)|vacuolar membrane (GO:0005774)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						CAGAGAGAATCAATTTCATCA	0.343																																						uc002lix.2		NaN																	0				ovary(1)	1						c.(709-711)GAT>CAT		vacuolar protein sorting factor 4B							76.0	80.0	78.0					18																	61067362		2203	4300	6503	SO:0001583	missense	9525				cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding	g.chr18:61067362C>G	AF038960	CCDS11983.1	18q21.33	2010-04-21	2006-04-04	2002-06-14	ENSG00000119541	ENSG00000119541		"""ATPases / AAA-type"""	10895	protein-coding gene	gene with protein product		609983	"""suppressor of K+ transport defect 1"", ""vacuolar protein sorting 4B (yeast)"""	SKD1		11563910	Standard	XM_006722582		Approved	VPS4-2, SKD1B	uc002lix.3	O75351	OTTHUMG00000132790	ENST00000238497.5:c.709G>C	18.37:g.61067362C>G	ENSP00000238497:p.Asp237His					VPS4B_uc010dpx.2_Missense_Mutation_p.D237H|VPS4B_uc010dpy.2_Missense_Mutation_p.D119H|VPS4B_uc010dpz.1_Missense_Mutation_p.D119H	p.D237H	NM_004869	NP_004860	O75351	VPS4B_HUMAN			7	969	-			237					Q69HW4|Q9GZS7	Missense_Mutation	SNP	ENST00000238497.5	37	c.709G>C	CCDS11983.1	.	.	.	.	.	.	.	.	.	.	C	31	5.072323	0.93950	.	.	ENSG00000119541	ENST00000238497	D	0.95588	-3.75	5.93	5.93	0.95920	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97977	0.9334	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98200	1.0467	10	0.87932	D	0	-29.7799	20.3465	0.98790	0.0:1.0:0.0:0.0	.	237;237;237	A8K5D8;A8K4G7;O75351	.;.;VPS4B_HUMAN	H	237	ENSP00000238497:D237H	ENSP00000238497:D237H	D	-	1	0	VPS4B	59218342	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.792000	0.85828	2.798000	0.96311	0.655000	0.94253	GAT		0.343	VPS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256198.2		NM_004869		16	118	0	0	0	0.006122	0	16	118		
PQLC1	80148	broad.mit.edu	37	18	77664069	77664069	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr18:77664069G>A	ENST00000397778.2	-	6	905	c.723C>T	c.(721-723)gaC>gaT	p.D241D	PQLC1_ENST00000409073.1_Silent_p.D158D|PQLC1_ENST00000590381.1_3'UTR|PQLC1_ENST00000357575.4_Silent_p.D223D|PQLC1_ENST00000590895.1_5'UTR	NM_025078.4	NP_079354.2	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1	241						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		GGATGGCCAGGTCCACCAGCA	0.682																																						uc002lnl.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(721-723)GAC>GAT		PQ loop repeat containing 1 isoform 1							39.0	40.0	40.0					18																	77664069		2199	4299	6498	SO:0001819	synonymous_variant	80148					integral to membrane		g.chr18:77664069G>A	AK123870	CCDS12020.1, CCDS54192.1, CCDS54193.1	18q23	2004-01-14			ENSG00000122490	ENSG00000122490			26188	protein-coding gene	gene with protein product						12477932	Standard	NM_025078		Approved	FLJ22378	uc002lnl.2	Q8N2U9	OTTHUMG00000132921	ENST00000397778.2:c.723C>T	18.37:g.77664069G>A						PQLC1_uc010dre.2_Silent_p.D158D|PQLC1_uc002lnk.2_Silent_p.D223D|PQLC1_uc010xfm.1_3'UTR	p.D241D	NM_025078	NP_079354	Q8N2U9	PQLC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)	6	895	-		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)	241			Helical; (Potential).		B7Z7D9|G5E989|Q9H6D0	Silent	SNP	ENST00000397778.2	37	c.723C>T	CCDS12020.1																																																																																				0.682	PQLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256434.1		NM_025078		6	34	0	0	0	0.001984	0	6	34		
PPAP2C	8612	broad.mit.edu	37	19	281413	281413	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:281413T>C	ENST00000269812.3	-	6	891	c.842A>G	c.(841-843)tAt>tGt	p.Y281C	PPAP2C_ENST00000327790.3_Missense_Mutation_p.Y302C|PPAP2C_ENST00000434325.2_Missense_Mutation_p.Y225C	NM_003712.2|NM_177526.1	NP_003703.1|NP_803545.1	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C	281					dephosphorylation (GO:0016311)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGTATCCATAGTGGTTGTG	0.657																																						uc002loi.2		NaN																	0				central_nervous_system(1)	1						c.(841-843)TAT>TGT		phosphatidic acid phosphatase type 2C isoform 1							107.0	92.0	97.0					19																	281413		2203	4300	6503	SO:0001583	missense	8612				sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr19:281413T>C	AF035959	CCDS12023.1, CCDS12024.1, CCDS45889.1	19p13	2009-05-27				ENSG00000141934	3.1.3.4		9230	protein-coding gene	gene with protein product		607126				9570154, 9607309	Standard	NM_177543		Approved	PAP-2c, LPP2	uc002loh.3	O43688		ENST00000269812.3:c.842A>G	19.37:g.281413T>C	ENSP00000269812:p.Tyr281Cys					PPAP2C_uc002loh.2_Missense_Mutation_p.Y302C|PPAP2C_uc002loj.2_Missense_Mutation_p.Y225C	p.Y281C	NM_003712	NP_003703	O43688	LPP2_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	941	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	281					A6NLV0|E9PAY8	Missense_Mutation	SNP	ENST00000269812.3	37	c.842A>G	CCDS12023.1	.	.	.	.	.	.	.	.	.	.	t	8.766	0.924807	0.18056	.	.	ENSG00000141934	ENST00000269812;ENST00000327790;ENST00000434325	T;T;T	0.38077	1.24;1.16;1.18	5.05	-3.34	0.04943	.	0.741999	0.12726	U	0.444317	T	0.16599	0.0399	N	0.12182	0.205	0.19300	N	0.99998	B;B	0.16166	0.016;0.01	B;B	0.19946	0.027;0.007	T	0.12016	-1.0564	10	0.51188	T	0.08	-22.0123	4.9994	0.14257	0.3063:0.3253:0.0:0.3684	.	281;302	O43688;O43688-2	LPP2_HUMAN;.	C	281;302;225	ENSP00000269812:Y281C;ENSP00000329697:Y302C;ENSP00000388565:Y225C	ENSP00000269812:Y281C	Y	-	2	0	PPAP2C	232413	0.001000	0.12720	0.002000	0.10522	0.003000	0.03518	-0.058000	0.11750	-1.075000	0.03129	-1.773000	0.00660	TAT		0.657	PPAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451777.2				5	32	0	0	0	0.001168	0	5	32		
CNN2	1265	broad.mit.edu	37	19	1032581	1032581	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:1032581C>G	ENST00000263097.4	+	4	639	c.276C>G	c.(274-276)atC>atG	p.I92M	CNN2_ENST00000562958.2_Missense_Mutation_p.I92M|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000565096.2_Missense_Mutation_p.I92M|CNN2_ENST00000348419.3_Missense_Mutation_p.I92M	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	92	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actomyosin structure organization (GO:0031032)|cellular response to mechanical stimulus (GO:0071260)|cytoskeleton organization (GO:0007010)|hemopoiesis (GO:0030097)|negative regulation of cell migration (GO:0030336)|negative regulation of phagocytosis (GO:0050765)|positive regulation of gene expression (GO:0010628)|regulation of actin filament-based process (GO:0032970)|regulation of cell proliferation (GO:0042127)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|stress fiber (GO:0001725)	actin binding (GO:0003779)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		CCAACTTCATCAAGGCCATGG	0.577																																						uc002lqu.2		NaN																	0					0						c.(274-276)ATC>ATG		calponin 2 isoform a							76.0	72.0	73.0					19																	1032581		2203	4300	6503	SO:0001583	missense	1265				actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding	g.chr19:1032581C>G	D83735	CCDS12053.1, CCDS12054.1	19p13.3	2011-02-18			ENSG00000064666	ENSG00000064666			2156	protein-coding gene	gene with protein product		602373				8889829	Standard	NM_004368		Approved		uc002lqu.3	Q99439		ENST00000263097.4:c.276C>G	19.37:g.1032581C>G	ENSP00000263097:p.Ile92Met					CNN2_uc002lqt.1_Missense_Mutation_p.I92M|CNN2_uc010drz.1_Intron|CNN2_uc002lqv.2_Missense_Mutation_p.I92M|CNN2_uc010xgb.1_Missense_Mutation_p.I92M|CNN2_uc010xgc.1_Missense_Mutation_p.I92M	p.I92M	NM_004368	NP_004359	Q99439	CNN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	639	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	92			CH.		A5D8U8|A6NFI4|D6W5X9|Q92578	Missense_Mutation	SNP	ENST00000263097.4	37	c.276C>G	CCDS12053.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.368298	0.61513	.	.	ENSG00000064666	ENST00000263097;ENST00000348419;ENST00000442531	T;T	0.61040	0.14;0.14	4.05	4.05	0.47172	Calponin homology domain (5);	0.000000	0.85682	U	0.000000	T	0.73946	0.3652	M	0.84326	2.69	0.42148	D	0.99154	P;P;P;P;D	0.57257	0.924;0.925;0.874;0.924;0.979	D;D;D;P;D	0.70487	0.946;0.969;0.943;0.903;0.969	T	0.77183	-0.2681	10	0.66056	D	0.02	.	9.2525	0.37564	0.216:0.784:0.0:0.0	.	92;92;92;92;92	B4DUT8;B4DDF4;A6NFI4;Q99439;Q6FHE4	.;.;.;CNN2_HUMAN;.	M	92;92;71	ENSP00000263097:I92M;ENSP00000340129:I92M	ENSP00000263097:I92M	I	+	3	3	CNN2	983581	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.238000	0.58688	1.827000	0.53221	0.306000	0.20318	ATC		0.577	CNN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420293.3		NM_004368		9	102	0	0	0	0.001855	0	9	102		
ABCA7	10347	broad.mit.edu	37	19	1058041	1058041	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:1058041G>C	ENST00000263094.6	+	36	5239	c.5008G>C	c.(5008-5010)Gag>Cag	p.E1670Q	ABCA7_ENST00000433129.1_Missense_Mutation_p.E1670Q|ABCA7_ENST00000435683.2_Missense_Mutation_p.E1532Q	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1670					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		CTTTGTGCTTGAGCTCTTCTC	0.572																																						uc002lqw.3		NaN																	0				pancreas(7)|ovary(1)|central_nervous_system(1)	9						c.(5008-5010)GAG>CAG		ATP-binding cassette, sub-family A, member 7							116.0	106.0	110.0					19																	1058041		2203	4300	6503	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1058041G>C	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.5008G>C	19.37:g.1058041G>C	ENSP00000263094:p.Glu1670Gln					ABCA7_uc002lqy.2_Missense_Mutation_p.E123Q|ABCA7_uc010dsc.2_5'Flank	p.E1670Q	NM_019112	NP_061985	Q8IZY2	ABCA7_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)	36	5239	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	1670					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.5008G>C	CCDS12055.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.83|16.83	3.230072|3.230072	0.58777|0.58777	.|.	.|.	ENSG00000064687|ENSG00000064687	ENST00000263094;ENST00000433129|ENST00000525073	D;D|.	0.87650|.	-2.28;-2.28|.	4.22|4.22	3.17|3.17	0.36434|0.36434	.|.	.|.	.|.	.|.	.|.	T|.	0.64091|.	0.2567|.	M|M	0.61703|0.61703	1.905|1.905	0.35712|0.35712	D|D	0.816437|0.816437	D;P|.	0.61080|.	0.989;0.771|.	D;P|.	0.70016|.	0.967;0.475|.	T|.	0.70346|.	-0.4897|.	9|.	0.23302|.	T|.	0.38|.	.|.	12.8097|12.8097	0.57634|0.57634	0.0:0.1661:0.8338:0.0|0.0:0.1661:0.8338:0.0	.|.	795;1670|.	D6W5Y0;Q8IZY2|.	.;ABCA7_HUMAN|.	Q|S	1670|101	ENSP00000263094:E1670Q;ENSP00000414062:E1670Q|.	ENSP00000263094:E1670Q|.	E|X	+|+	1|2	0|2	ABCA7|ABCA7	1009041|1009041	1.000000|1.000000	0.71417|0.71417	0.616000|0.616000	0.29078|0.29078	0.949000|0.949000	0.60115|0.60115	6.243000|6.243000	0.72384|0.72384	0.968000|0.968000	0.38212|0.38212	0.561000|0.561000	0.74099|0.74099	GAG|TGA		0.572	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1		NM_019112		8	93	0	0	0	0.006214	0	8	93		
ABHD17A	81926	broad.mit.edu	37	19	1881473	1881473	+	Silent	SNP	C	C	T	rs548895649		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:1881473C>T	ENST00000292577.7	-	2	526	c.93G>A	c.(91-93)ccG>ccA	p.P31P	ABHD17A_ENST00000590661.1_Silent_p.P31P|ABHD17A_ENST00000250974.9_Silent_p.P31P	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	31						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										AGGTGGCCTCCGGCGGCAGGA	0.751													c|||	1	0.000199681	0.0	0.0	5008	,	,		13599	0.0		0.001	False		,,,				2504	0.0					uc002lug.2		NaN																	0					0						c.(91-93)CCG>CCA		hypothetical protein LOC81926 isoform 2																																				SO:0001819	synonymous_variant	81926					extracellular region	hydrolase activity	g.chr19:1881473C>T	BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"""Abhydrolase domain containing"""	28756	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 27"", ""family with sequence similarity 108, member A1"""	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.93G>A	19.37:g.1881473C>T						FAM108A1_uc002lud.2_Silent_p.P31P|FAM108A1_uc002lue.2_Silent_p.P31P|FAM108A1_uc002luf.2_Silent_p.P31P	p.P31P	NM_001130111	NP_001123583	Q96GS6	F18A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	499	-		Ovarian(11;0.000137)	31					A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Silent	SNP	ENST00000292577.7	37	c.93G>A	CCDS45902.1																																																																																				0.751	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415556.2		NM_031213		4	66	0	0	0	0.000602	0	4	66		
THOP1	7064	broad.mit.edu	37	19	2810332	2810332	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:2810332G>A	ENST00000307741.6	+	10	1689	c.1486G>A	c.(1486-1488)Gtg>Atg	p.V496M	THOP1_ENST00000586677.1_Missense_Mutation_p.V375M|THOP1_ENST00000395212.4_Missense_Mutation_p.V7M|THOP1_ENST00000591149.1_3'UTR	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	496					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		CGGGACCCACGTGGAGCGGGA	0.692																																						uc002lwj.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1486-1488)GTG>ATG		thimet oligopeptidase 1							44.0	45.0	45.0					19																	2810332		2201	4299	6500	SO:0001583	missense	7064				proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding	g.chr19:2810332G>A		CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.1486G>A	19.37:g.2810332G>A	ENSP00000304467:p.Val496Met					THOP1_uc010xgz.1_Missense_Mutation_p.V375M|THOP1_uc002lwk.2_Missense_Mutation_p.V7M	p.V496M	NM_003249	NP_003240	P52888	THOP1_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)	10	1641	+			496					B3KSE2|Q9UCB3	Missense_Mutation	SNP	ENST00000307741.6	37	c.1486G>A	CCDS12095.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.248118	0.59103	.	.	ENSG00000172009	ENST00000307741;ENST00000395212	T;T	0.13657	2.57;2.57	4.4	4.4	0.53042	Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.51109	0.1655	H	0.96175	3.78	0.54753	D	0.999989	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.994	T	0.69602	-0.5101	10	0.87932	D	0	-46.8098	15.5315	0.75968	0.0:0.0:1.0:0.0	.	375;7;496	B4DU96;B3KSE2;P52888	.;.;THOP1_HUMAN	M	496;7	ENSP00000304467:V496M;ENSP00000378638:V7M	ENSP00000304467:V496M	V	+	1	0	THOP1	2761332	1.000000	0.71417	0.976000	0.42696	0.076000	0.17211	9.112000	0.94314	1.987000	0.57996	0.313000	0.20887	GTG		0.692	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451587.2				4	55	0	0	0	0.000602	0	4	55		
CLEC4G	339390	broad.mit.edu	37	19	7794268	7794268	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:7794268T>A	ENST00000328853.5	-	9	934	c.866A>T	c.(865-867)aAa>aTa	p.K289I	CLEC4G_ENST00000598081.1_5'Flank	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	289						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						GTTGTGCCTTTTCTCACAGAT	0.622																																					Esophageal Squamous(146;540 1807 3349 19438 30853)	uc002mhp.3		NaN																	0					0						c.(865-867)AAA>ATA		C-type lectin domain family 4, member G							69.0	57.0	61.0					19																	7794268		2203	4300	6503	SO:0001583	missense	339390					integral to membrane	protein binding|sugar binding	g.chr19:7794268T>A	AY358431	CCDS12185.1	19p13.2	2010-04-27	2008-11-04			ENSG00000182566		"""C-type lectin domain containing"""	24591	protein-coding gene	gene with protein product			"""C-type lectin superfamily 4, member G"""			12975309	Standard	NM_198492		Approved	UNQ431, LSECtin	uc002mhp.4	Q6UXB4		ENST00000328853.5:c.866A>T	19.37:g.7794268T>A	ENSP00000327599:p.Lys289Ile						p.K289I	NM_198492	NP_940894	Q6UXB4	CLC4G_HUMAN			9	935	-			289			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000328853.5	37	c.866A>T	CCDS12185.1	.	.	.	.	.	.	.	.	.	.	T	15.35	2.808113	0.50421	.	.	ENSG00000182566	ENST00000328853;ENST00000381308	T	0.20200	2.09	5.45	3.35	0.38373	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	0.000000	0.38217	N	0.001771	T	0.40839	0.1133	M	0.75615	2.305	0.36826	D	0.88664	D	0.89917	1.0	D	0.97110	1.0	T	0.41928	-0.9481	10	0.87932	D	0	.	5.6296	0.17504	0.0:0.0886:0.1718:0.7395	.	289	Q6UXB4	CLC4G_HUMAN	I	289;173	ENSP00000327599:K289I	ENSP00000327599:K289I	K	-	2	0	CLEC4G	7700268	0.964000	0.33143	0.997000	0.53966	0.180000	0.23129	1.058000	0.30504	0.350000	0.24002	-0.323000	0.08544	AAA		0.622	CLEC4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461989.1		NM_198492		7	46	0	0	0	0.006214	0	7	46		
DOCK6	57572	broad.mit.edu	37	19	11313325	11313325	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:11313325C>T	ENST00000294618.7	-	42	5307	c.5296G>A	c.(5296-5298)Gag>Aag	p.E1766K	CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Missense_Mutation_p.E1105K|DOCK6_ENST00000586702.1_5'UTR	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1766	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						AACTCCTGCTCATCCAGGTCA	0.622																																						uc002mqs.3		NaN																	0				ovary(2)|skin(1)	3						c.(5296-5298)GAG>AAG		dedicator of cytokinesis 6							128.0	134.0	132.0					19																	11313325		2063	4203	6266	SO:0001583	missense	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11313325C>T		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.5296G>A	19.37:g.11313325C>T	ENSP00000294618:p.Glu1766Lys					DOCK6_uc002mqr.3_Missense_Mutation_p.E166K|DOCK6_uc010xlq.1_Missense_Mutation_p.E1105K	p.E1766K	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN			42	5337	-			1766			DHR-2.		A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	c.5296G>A	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.226697	0.58668	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.23147	2.66;1.92	4.68	3.6	0.41247	.	0.056134	0.64402	D	0.000002	T	0.21962	0.0529	L	0.41079	1.255	0.58432	D	0.999996	B;P;B	0.36909	0.427;0.573;0.427	B;B;B	0.42138	0.168;0.377;0.168	T	0.02226	-1.1192	10	0.02654	T	1	-19.0817	13.3031	0.60336	0.0:0.839:0.161:0.0	.	1105;1766;1105	C9IZV6;Q96HP0;B4DIL4	.;DOCK6_HUMAN;.	K	1766;1105	ENSP00000294618:E1766K;ENSP00000321556:E1105K	ENSP00000294618:E1766K	E	-	1	0	DOCK6	11174325	1.000000	0.71417	0.991000	0.47740	0.686000	0.39977	5.881000	0.69706	0.903000	0.36546	0.555000	0.69702	GAG		0.622	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1		NM_020812		12	220	0	0	0	0.013537	0	12	220		
JAK3	3718	broad.mit.edu	37	19	17942037	17942037	+	Splice_Site	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:17942037C>G	ENST00000527670.1	-	20	3007	c.2978G>C	c.(2977-2979)tGg>tCg	p.W993S	JAK3_ENST00000458235.1_Splice_Site_p.W993S|JAK3_ENST00000534444.1_Splice_Site_p.W993S			P52333	JAK3_HUMAN	Janus kinase 3	993	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	GGTTCCCCACCAGAAAATGGG	0.662		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	uc002nhn.3		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			acute megakaryocytic leukemia|		0				haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56						c.(2977-2979)TGG>TCG		Janus kinase 3							69.0	72.0	71.0					19																	17942037		2203	4300	6503	SO:0001630	splice_region_variant	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17942037C>G	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.2978+1G>C	19.37:g.17942037C>G						JAK3_uc010ebh.2_Intron|JAK3_uc002nho.2_Missense_Mutation_p.W993S	p.W993S	NM_000215	NP_000206	P52333	JAK3_HUMAN			21	3078	-			993			Protein kinase 2.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	c.2978G>C	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184932	0.78677	.	.	ENSG00000105639	ENST00000458235;ENST00000527670;ENST00000534444	T;T;D	0.90844	-0.22;-0.22;-2.74	3.12	3.12	0.35913	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.247451	0.36893	N	0.002348	D	0.95865	0.8654	M	0.92880	3.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.993;0.997	D	0.96415	0.9307	9	.	.	.	-14.7541	12.4951	0.55923	0.0:1.0:0.0:0.0	.	993;993	P52333-2;P52333	.;JAK3_HUMAN	S	993	ENSP00000391676:W993S;ENSP00000432511:W993S;ENSP00000436421:W993S	.	W	-	2	0	JAK3	17803037	.	.	0.998000	0.56505	0.851000	0.48451	.	.	1.704000	0.51252	0.407000	0.27541	TGG		0.662	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1		NM_000215	Missense_Mutation	10	74	0	0	0	0.00245	0	10	74		
COMP	1311	broad.mit.edu	37	19	18898425	18898425	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:18898425C>T	ENST00000222271.2	-	10	1054	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	COMP_ENST00000425807.1_Missense_Mutation_p.R284H|COMP_ENST00000542601.2_Missense_Mutation_p.R304H	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	337					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GTCCGTGTTGCGCTGGTCTGG	0.612																																						uc002nke.2		NaN																	0					0						c.(1009-1011)CGC>CAC		cartilage oligomeric matrix protein precursor							151.0	126.0	134.0					19																	18898425		2203	4300	6503	SO:0001583	missense	1311				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding	g.chr19:18898425C>T	L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"""thrombospondin-5"""	600310	"""cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"""	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.1010G>A	19.37:g.18898425C>T	ENSP00000222271:p.Arg337His					COMP_uc002nkd.2_Missense_Mutation_p.R304H|COMP_uc010xqj.1_Missense_Mutation_p.R284H	p.R337H	NM_000095	NP_000086	P49747	COMP_HUMAN			10	1046	-			337			TSP type-3 3.		B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Missense_Mutation	SNP	ENST00000222271.2	37	c.1010G>A	CCDS12385.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.466277	0.43839	.	.	ENSG00000105664	ENST00000542601;ENST00000222271;ENST00000425807;ENST00000454701	D;D;D	0.97598	-4.45;-4.45;-4.45	3.33	3.33	0.38152	.	0.073434	0.51477	U	0.000100	D	0.96830	0.8965	M	0.79123	2.44	0.45035	D	0.998054	P;D	0.63046	0.939;0.992	B;P	0.56163	0.355;0.793	D	0.94728	0.7907	10	0.19590	T	0.45	-33.2993	7.9053	0.29759	0.0:0.8798:0.0:0.1202	.	284;337	B4DKJ3;P49747	.;COMP_HUMAN	H	304;337;284;324	ENSP00000439156:R304H;ENSP00000222271:R337H;ENSP00000403792:R284H	ENSP00000222271:R337H	R	-	2	0	COMP	18759425	0.030000	0.19436	0.875000	0.34327	0.892000	0.51952	0.714000	0.25808	1.874000	0.54306	0.313000	0.20887	CGC		0.612	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403457.1		NM_000095		21	160	0	0	0	0.012319	0	21	160		
ZNF430	80264	broad.mit.edu	37	19	21239443	21239443	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:21239443A>G	ENST00000261560.5	+	5	510	c.329A>G	c.(328-330)tAt>tGt	p.Y110C	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	110					regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						TCAGTTACATATTCTCATTTT	0.308																																						uc002npj.2		NaN																	0				skin(2)	2						c.(328-330)TAT>TGT		zinc finger protein 430							38.0	40.0	39.0					19																	21239443		2188	4291	6479	SO:0001583	missense	80264				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21239443A>G	AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"""Zinc fingers, C2H2-type"", ""-"""	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.329A>G	19.37:g.21239443A>G	ENSP00000261560:p.Tyr110Cys					ZNF430_uc002npk.2_Missense_Mutation_p.Y109C	p.Y110C	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN			5	439	+			110					Q86V70	Missense_Mutation	SNP	ENST00000261560.5	37	c.329A>G	CCDS32978.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.623626	0.00007	.	.	ENSG00000118620	ENST00000261560	T	0.04917	3.53	1.4	-2.81	0.05805	.	.	.	.	.	T	0.01558	0.0050	N	0.02120	-0.675	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37056	-0.9722	9	0.07030	T	0.85	.	0.4437	0.00490	0.3363:0.2912:0.1872:0.1853	.	109;110	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	C	110	ENSP00000261560:Y110C	ENSP00000261560:Y110C	Y	+	2	0	ZNF430	21031283	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.222000	0.02965	-2.087000	0.00862	-1.632000	0.00781	TAT		0.308	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1		NM_025189		7	63	0	0	0	0.004482	0	7	63		
ZNF492	57615	broad.mit.edu	37	19	22836772	22836772	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:22836772G>C	ENST00000456783.2	+	3	329	c.85G>C	c.(85-87)Gaa>Caa	p.E29Q		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	29	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GCAAGGAAAAGAACCTTGGAA	0.423																																						uc002nqw.3		NaN																	0					0						c.(85-87)GAA>CAA		zinc finger protein 492							94.0	109.0	104.0					19																	22836772		2201	4298	6499	SO:0001583	missense	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22836772G>C	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.85G>C	19.37:g.22836772G>C	ENSP00000413660:p.Glu29Gln						p.E29Q	NM_020855	NP_065906	Q9P255	ZN492_HUMAN			3	329	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	29			KRAB.		Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	c.85G>C	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	10.98	1.504333	0.26949	.	.	ENSG00000229676	ENST00000456783	T	0.09350	2.99	0.458	0.458	0.16670	Krueppel-associated box (2);	.	.	.	.	T	0.27169	0.0666	M	0.83223	2.63	0.09310	N	1	D	0.71674	0.998	P	0.59546	0.859	T	0.05920	-1.0856	8	0.72032	D	0.01	.	.	.	.	.	29	Q9P255	ZN492_HUMAN	Q	29	ENSP00000413660:E29Q	ENSP00000413660:E29Q	E	+	1	0	ZNF492	22628612	0.937000	0.31787	0.128000	0.21923	0.118000	0.20060	1.419000	0.34793	0.482000	0.27582	0.484000	0.47621	GAA		0.423	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1		NM_020855		7	160	0	0	0	0.008291	0	7	160		
KMT2B	9757	broad.mit.edu	37	19	36214059	36214059	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:36214059G>A	ENST00000222270.7	+	6	2885	c.2885G>A	c.(2884-2886)cGc>cAc	p.R962H	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.R962H	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	962					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										AAGAAGATGCGCATGGCTCGA	0.637																																						uc010eei.2		NaN																	0				central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11						c.(2884-2886)CGC>CAC		myeloid/lymphoid or mixed-lineage leukemia 4							51.0	60.0	57.0					19																	36214059		2142	4250	6392	SO:0001583	missense	9757				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:36214059G>A	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.2885G>A	19.37:g.36214059G>A	ENSP00000222270:p.Arg962His						p.R962H	NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		6	2885	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		962			CXXC-type.		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.2885G>A	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867465	0.72065	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.88201	-2.35;-2.35	5.56	5.56	0.83823	Zinc finger, CXXC-type (2);	0.000000	0.40144	N	0.001163	D	0.95149	0.8428	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95538	0.8609	10	0.87932	D	0	.	18.296	0.90146	0.0:0.0:1.0:0.0	.	962	Q9UMN6	MLL4_HUMAN	H	962	ENSP00000222270:R962H;ENSP00000398837:R962H	ENSP00000222270:R962H	R	+	2	0	AD000671.1	40905899	1.000000	0.71417	0.986000	0.45419	0.912000	0.54170	6.287000	0.72671	2.608000	0.88229	0.655000	0.94253	CGC		0.637	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_014727		7	69	0	0	0	0.008291	0	7	69		
ZNF383	163087	broad.mit.edu	37	19	37733704	37733704	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:37733704A>C	ENST00000589413.1	+	8	1149	c.566A>C	c.(565-567)cAg>cCg	p.Q189P	ZNF383_ENST00000590503.1_Missense_Mutation_p.Q189P|ZNF383_ENST00000352998.3_Missense_Mutation_p.Q189P			Q8NA42	ZN383_HUMAN	zinc finger protein 383	189					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTCAACATCAGAGAATTCAT	0.338																																						uc002oft.1		NaN																	0		p.Q189*(1)		ovary(1)|skin(1)	2						c.(565-567)CAG>CCG		zinc finger protein 383							45.0	49.0	48.0					19																	37733704		2203	4300	6503	SO:0001583	missense	163087				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr19:37733704A>C	AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283		"""Zinc fingers, C2H2-type"", ""-"""	18609	protein-coding gene	gene with protein product							Standard	NM_152604		Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.566A>C	19.37:g.37733704A>C	ENSP00000464871:p.Gln189Pro					ZNF383_uc002ofs.1_Missense_Mutation_p.Q124P|ZNF383_uc002ofu.1_Missense_Mutation_p.Q189P	p.Q189P	NM_152604	NP_689817	Q8NA42	ZN383_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		8	1146	+			189			C2H2-type 1.		Q6X2C7	Missense_Mutation	SNP	ENST00000589413.1	37	c.566A>C	CCDS12501.1	.	.	.	.	.	.	.	.	.	.	A	10.03	1.238250	0.22711	.	.	ENSG00000188283	ENST00000352998	T	0.54866	0.55	3.74	3.74	0.42951	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.30446	N	0.009620	T	0.70850	0.3271	M	0.88105	2.93	0.22737	N	0.998797	D	0.76494	0.999	D	0.70487	0.969	T	0.62982	-0.6738	10	0.87932	D	0	.	5.8038	0.18428	0.8791:0.0:0.1209:0.0	.	189	Q8NA42	ZN383_HUMAN	P	189	ENSP00000340132:Q189P	ENSP00000340132:Q189P	Q	+	2	0	ZNF383	42425544	0.038000	0.19896	1.000000	0.80357	0.993000	0.82548	0.532000	0.23067	1.683000	0.51011	0.460000	0.39030	CAG		0.338	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458141.1		NM_152604		4	49	0	0	0	0.009096	0	4	49		
CATSPERG	57828	broad.mit.edu	37	19	38861352	38861352	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:38861352A>T	ENST00000409235.3	+	29	3515	c.3400A>T	c.(3400-3402)Atg>Ttg	p.M1134L	CATSPERG_ENST00000410018.1_Missense_Mutation_p.M1094L|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	1134					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						ACATTCCAGGATGGGCTCCAT	0.552																																						uc002oih.3		NaN																	0				ovary(1)|skin(1)	2						c.(3400-3402)ATG>TTG		cation channel, sperm-associated, gamma							132.0	122.0	125.0					19																	38861352		2203	4300	6503	SO:0001583	missense	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38861352A>T	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.3400A>T	19.37:g.38861352A>T	ENSP00000386962:p.Met1134Leu					CATSPERG_uc002oig.3_Missense_Mutation_p.M1094L|CATSPERG_uc002oif.3_Missense_Mutation_p.M774L|CATSPERG_uc010efw.2_RNA	p.M1134L	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN			29	3487	+			1134			Cytoplasmic (Potential).		A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	c.3400A>T	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	A	6.035	0.374768	0.11409	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.20332	2.08;2.08	3.85	-3.96	0.04106	.	4.390070	0.00531	N	0.000204	T	0.08582	0.0213	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.01281	0.0;0.0	T	0.14282	-1.0478	10	0.21014	T	0.42	5.303	0.8608	0.01193	0.2898:0.2976:0.2607:0.1518	.	1134;1094	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	L	1094;1134;1134	ENSP00000387057:M1094L;ENSP00000386962:M1134L	ENSP00000386962:M1134L	M	+	1	0	CATSPERG	43553192	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.366000	0.01078	-0.599000	0.05798	-0.973000	0.02599	ATG		0.552	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1		NM_021185		15	124	0	0	0	0.006122	0	15	124		
FAM98C	147965	broad.mit.edu	37	19	38896259	38896259	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:38896259G>A	ENST00000252530.5	+	6	753	c.734G>A	c.(733-735)tGg>tAg	p.W245*	FAM98C_ENST00000343358.7_Nonsense_Mutation_p.W219*|FAM98C_ENST00000588262.1_Intron	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	245										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCTTTCCACTGGAGTGACCGG	0.612																																						uc002oin.1		NaN																	0				skin(1)	1						c.(733-735)TGG>TAG		hypothetical protein LOC147965							44.0	46.0	46.0					19																	38896259		2181	4278	6459	SO:0001587	stop_gained	147965							g.chr19:38896259G>A		CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.734G>A	19.37:g.38896259G>A	ENSP00000252530:p.Trp245*					FAM98C_uc002oio.1_Nonsense_Mutation_p.W219*|FAM98C_uc010xtz.1_Intron	p.W245*	NM_174905	NP_777565	Q17RN3	FA98C_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		6	753	+	all_cancers(60;3.95e-06)		245					A6NMW3|Q66K45	Nonsense_Mutation	SNP	ENST00000252530.5	37	c.734G>A	CCDS42562.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.965055	0.92855	.	.	ENSG00000130244	ENST00000252530;ENST00000343358	.	.	.	4.03	4.03	0.46877	.	0.000000	0.35262	N	0.003326	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.8255	11.624	0.51134	0.0:0.0:1.0:0.0	.	.	.	.	X	245;219	.	ENSP00000252530:W245X	W	+	2	0	FAM98C	43588099	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.258000	0.65479	2.087000	0.62958	0.558000	0.71614	TGG		0.612	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1		NM_174905		6	71	0	0	0	0.001984	0	6	71		
PLD3	23646	broad.mit.edu	37	19	40872687	40872687	+	Missense_Mutation	SNP	G	G	A	rs551176741		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:40872687G>A	ENST00000409587.1	+	5	507	c.110G>A	c.(109-111)cGc>cAc	p.R37H	PLD3_ENST00000409735.4_Missense_Mutation_p.R37H|PLD3_ENST00000356508.5_Missense_Mutation_p.R37H|PLD3_ENST00000409419.1_Missense_Mutation_p.R37H|PLD3_ENST00000409281.1_Missense_Mutation_p.R37H			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	37					cell death (GO:0008219)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phospholipase D activity (GO:0004630)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			CAGAAAGCCCGCTGGGTCCTG	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		16164	0.0		0.0	False		,,,				2504	0.001					uc002onm.3		NaN																	0				skin(2)|ovary(1)	3						c.(109-111)CGC>CAC		phospholipase D3							47.0	45.0	46.0					19																	40872687		2203	4300	6503	SO:0001583	missense	23646				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding	g.chr19:40872687G>A	BC000553	CCDS33027.1	19q13.2	2014-03-14	2005-05-20		ENSG00000105223	ENSG00000105223			17158	protein-coding gene	gene with protein product		615698	"""phospholipase D3"""			9140189, 15794758	Standard	XM_005258704		Approved	HU-K4	uc002onj.4	Q8IV08	OTTHUMG00000152736	ENST00000409587.1:c.110G>A	19.37:g.40872687G>A	ENSP00000387050:p.Arg37His					PLD3_uc002onj.3_Missense_Mutation_p.R37H|PLD3_uc002onk.3_Missense_Mutation_p.R37H|PLD3_uc002onl.3_Missense_Mutation_p.R37H|PLD3_uc002onn.2_Missense_Mutation_p.R37H|PLD3_uc002ono.2_Silent_p.P66P	p.R37H	NM_001031696	NP_001026866	Q8IV08	PLD3_HUMAN	Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)		5	508	+			37			Cytoplasmic (Potential).		Q92853|Q9BW87	Missense_Mutation	SNP	ENST00000409587.1	37	c.110G>A	CCDS33027.1	.	.	.	.	.	.	.	.	.	.	G	32	5.124221	0.94429	.	.	ENSG00000105223	ENST00000392032;ENST00000409419;ENST00000409587;ENST00000356508;ENST00000536031;ENST00000409735;ENST00000409281;ENST00000359274	T;T;T;T;T;T;T	0.48836	0.8;0.87;0.87;0.87;0.87;0.87;0.82	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.59905	0.2228	L	0.48642	1.525	0.36108	D	0.844637	D	0.76494	0.999	D	0.64877	0.93	T	0.64343	-0.6430	10	0.40728	T	0.16	-6.9071	15.3003	0.73945	0.0:0.0:1.0:0.0	.	37	Q8IV08	PLD3_HUMAN	H	37	ENSP00000375886:R37H;ENSP00000386293:R37H;ENSP00000387050:R37H;ENSP00000348901:R37H;ENSP00000386938:R37H;ENSP00000387022:R37H;ENSP00000352220:R37H	ENSP00000348901:R37H	R	+	2	0	PLD3	45564527	1.000000	0.71417	0.993000	0.49108	1.000000	0.99986	3.532000	0.53553	2.674000	0.91012	0.655000	0.94253	CGC		0.627	PLD3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327721.1		NM_012268		5	54	0	0	0	0.001168	0	5	54		
ERCC2	2068	broad.mit.edu	37	19	45867571	45867571	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:45867571G>T	ENST00000391945.4	-	9	814	c.737C>A	c.(736-738)tCc>tAc	p.S246Y	ERCC2_ENST00000221481.6_Missense_Mutation_p.P127T|ERCC2_ENST00000485403.2_Missense_Mutation_p.S222Y|ERCC2_ENST00000391944.3_Missense_Mutation_p.S168Y|ERCC2_ENST00000391940.4_Missense_Mutation_p.S222Y	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	246	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GACGCTCATGGAGTCGATGCA	0.682			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002pbj.2		NaN	yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	Mis|N|F|S	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""			E		skin basal cell|skin squamous cell|melanoma			0				lung(2)|pancreas(1)	3						c.(736-738)TCC>TAC	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							40.0	44.0	43.0					19																	45867571		2203	4300	6503	SO:0001583	missense	2068	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45867571G>T		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.737C>A	19.37:g.45867571G>T	ENSP00000375809:p.Ser246Tyr					ERCC2_uc002pbi.2_5'Flank|ERCC2_uc010ejz.2_Missense_Mutation_p.S168Y|ERCC2_uc002pbk.2_Missense_Mutation_p.S222Y|ERCC2_uc002pbl.3_Missense_Mutation_p.S222Y|ERCC2_uc010xxj.1_RNA	p.S246Y	NM_000400	NP_000391	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	9	784	-		Ovarian(192;0.0728)|all_neural(266;0.112)	246			Helicase ATP-binding.		Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	c.737C>A	CCDS33049.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.72|17.72	3.459795|3.459795	0.63401|0.63401	.|.	.|.	ENSG00000104884|ENSG00000104884	ENST00000221481|ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944;ENST00000391940	T|T;T;T	0.73258|0.71817	-0.73|-0.6;-0.6;-0.6	4.72|4.72	4.72|4.72	0.59763|0.59763	.|DEAD2 (1);Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.86406|0.86406	0.5925|0.5925	M|M	0.90705|0.90705	3.14|3.14	0.33090|0.33090	D|D	0.537758|0.537758	.|D;D;P	.|0.71674	.|0.985;0.998;0.869	.|D;D;P	.|0.75484	.|0.986;0.982;0.908	D|D	0.91228|0.91228	0.5012|0.5012	7|10	0.87932|0.87932	D|D	0|0	-48.7838|-48.7838	15.5543|15.5543	0.76180|0.76180	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|168;222;246	.|E7EVE9;Q7KZU6;P18074	.|.;.;ERCC2_HUMAN	T|Y	127|196;222;246;168;222	ENSP00000221481:P127T|ENSP00000375809:S246Y;ENSP00000375808:S168Y;ENSP00000375804:S222Y	ENSP00000221481:P127T|ENSP00000375804:S222Y	P|S	-|-	1|2	0|0	ERCC2|ERCC2	50559411|50559411	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	8.507000|8.507000	0.90522|0.90522	2.601000|2.601000	0.87937|0.87937	0.561000|0.561000	0.74099|0.74099	CCA|TCC		0.682	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2		NM_000400		8	76	1	0	3.09899e-07	0.004482	3.27916e-07	8	76		
CCDC8	83987	broad.mit.edu	37	19	46915949	46915949	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:46915949C>A	ENST00000307522.3	-	1	892	c.119G>T	c.(118-120)cGg>cTg	p.R40L		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	40					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		ctgggtcagccgctcccgaaa	0.647																																						uc002pep.2		NaN																	0				ovary(3)	3						c.(118-120)CGG>CTG		coiled-coil domain containing 8							50.0	55.0	54.0					19																	46915949		2203	4300	6503	SO:0001583	missense	83987					plasma membrane		g.chr19:46915949C>A	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.119G>T	19.37:g.46915949C>A	ENSP00000303158:p.Arg40Leu						p.R40L	NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	971	-			40					Q8TB26	Missense_Mutation	SNP	ENST00000307522.3	37	c.119G>T	CCDS12685.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.838266	0.71373	.	.	ENSG00000169515	ENST00000307522;ENST00000540252	T	0.11169	2.8	3.6	2.56	0.30785	.	0.000000	0.37483	N	0.002068	T	0.23532	0.0569	M	0.64997	1.995	0.30884	N	0.731073	D	0.76494	0.999	D	0.68353	0.957	T	0.04650	-1.0936	10	0.72032	D	0.01	-19.3689	6.9055	0.24307	0.0:0.874:0.0:0.126	.	40	Q9H0W5	CCDC8_HUMAN	L	40	ENSP00000303158:R40L	ENSP00000303158:R40L	R	-	2	0	CCDC8	51607789	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.316000	0.43761	1.083000	0.41159	0.491000	0.48974	CGG		0.647	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1		NM_032040		10	107	1	0	5.50884e-06	0.013537	5.78873e-06	10	107		
PNMAL2	57469	broad.mit.edu	37	19	46998670	46998670	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:46998670T>C	ENST00000377655.2	-	1	52	c.53A>G	c.(52-54)cAc>cGc	p.H18R	PNMAL2_ENST00000594749.1_Intron|AC011484.1_ENST00000377652.3_3'UTR|PNMAL2_ENST00000599531.1_Missense_Mutation_p.H18R			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	18										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		cagggccctgtgcgcgtccac	0.687																																						uc002pes.2		NaN																	0				central_nervous_system(1)	1						c.(52-54)CAC>CGC		PNMA-like 2							31.0	33.0	33.0					19																	46998670		2087	4214	6301	SO:0001583	missense	57469							g.chr19:46998670T>C	AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"""Paraneoplastic Ma antigens"""	29206	protein-coding gene	gene with protein product			"""PNMA-like 2"""			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.53A>G	19.37:g.46998670T>C	ENSP00000366883:p.His18Arg					uc002peu.1_3'UTR	p.H18R	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	1	500	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	18					C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Missense_Mutation	SNP	ENST00000377655.2	37	c.53A>G		.	.	.	.	.	.	.	.	.	.	T	3.804	-0.041185	0.07452	.	.	ENSG00000204851	ENST00000377655	T	0.08546	3.08	2.74	-3.06	0.05379	.	.	.	.	.	T	0.03564	0.0102	N	0.11427	0.14	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.44467	-0.9326	9	0.25106	T	0.35	-4.1008	4.8295	0.13432	0.0:0.5112:0.204:0.2847	.	18	Q9ULN7	PNML2_HUMAN	R	18	ENSP00000366883:H18R	ENSP00000366883:H18R	H	-	2	0	PNMAL2	51690510	0.041000	0.20044	0.002000	0.10522	0.042000	0.13812	0.291000	0.18994	-0.791000	0.04486	-0.297000	0.09499	CAC		0.687	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding			NM_020709		7	59	0	0	0	0.008291	0	7	59		
HRC	3270	broad.mit.edu	37	19	49657934	49657934	+	Silent	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:49657934C>G	ENST00000252825.4	-	1	747	c.561G>C	c.(559-561)ggG>ggC	p.G187G	HRC_ENST00000595625.1_Silent_p.G187G	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	187	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CATCATCTTCCCCATCATGGC	0.577																																					Melanoma(37;75 1097 24567 25669 30645)	uc002pmv.2		NaN																	0				ovary(1)	1						c.(559-561)GGG>GGC		histidine rich calcium binding protein							137.0	109.0	119.0					19																	49657934		2203	4300	6503	SO:0001819	synonymous_variant	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49657934C>G		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.561G>C	19.37:g.49657934C>G							p.G187G	NM_002152	NP_002143	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	748	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	187			4 X tandem repeats, acidic.|1-1.|6 X approximate tandem repeats.		Q504Y6	Silent	SNP	ENST00000252825.4	37	c.561G>C	CCDS12759.1																																																																																				0.577	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1		NM_002152		8	97	0	0	0	0.004482	0	8	97		
DNAJC27	51277	broad.mit.edu	37	2	25180826	25180826	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:25180826G>A	ENST00000264711.2	-	4	447	c.258C>T	c.(256-258)taC>taT	p.Y86Y	DNAJC27_ENST00000534855.1_Silent_p.Y15Y|DNAJC27_ENST00000468467.1_5'UTR	NM_001198559.1|NM_016544.2	NP_001185488.1|NP_057628.1	Q9NZQ0	DJC27_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 27	86					small GTPase mediated signal transduction (GO:0007264)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GTGTGTCCTTGTAAAACTCAT	0.418																																						uc002rft.1		NaN																	0				skin(1)	1						c.(256-258)TAC>TAT		DnaJ (Hsp40) homolog, subfamily C, member 27							72.0	64.0	67.0					2																	25180826		2203	4300	6503	SO:0001819	synonymous_variant	51277				protein folding|small GTPase mediated signal transduction		GTP binding|heat shock protein binding|unfolded protein binding	g.chr2:25180826G>A		CCDS1716.1, CCDS74493.1	2p23.3	2011-09-02	2008-08-20	2008-08-20	ENSG00000115137	ENSG00000115137		"""Heat shock proteins / DNAJ (HSP40)"""	30290	protein-coding gene	gene with protein product		613527	"""rab and DnaJ domain containing"""	RBJ		14980719	Standard	NM_016544		Approved	RabJS	uc002rft.2	Q9NZQ0	OTTHUMG00000125524	ENST00000264711.2:c.258C>T	2.37:g.25180826G>A						DNAJC27_uc010ykn.1_Silent_p.Y15Y|DNAJC27_uc002rfu.1_RNA|DNAJC27_uc010eyg.1_Silent_p.Y86Y	p.Y86Y	NM_016544	NP_057628	Q9NZQ0	DJC27_HUMAN			4	309	-			86					Q5JV88|Q86Y24	Silent	SNP	ENST00000264711.2	37	c.258C>T	CCDS1716.1																																																																																				0.418	DNAJC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246855.3		NM_016544		6	56	0	0	0	0.001168	0	6	56		
C2orf16	84226	broad.mit.edu	37	2	27803662	27803662	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:27803662A>G	ENST00000408964.2	+	1	4274	c.4223A>G	c.(4222-4224)gAc>gGc	p.D1408G	ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000556601.1_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_5'Flank|AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1408						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ATCAAAAGAGACAAGAGGTCA	0.488																																						uc002rkz.3		NaN																	0				large_intestine(1)	1						c.(4222-4224)GAC>GGC		hypothetical protein LOC84226							88.0	91.0	90.0					2																	27803662		1991	4153	6144	SO:0001583	missense	84226							g.chr2:27803662A>G	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.4223A>G	2.37:g.27803662A>G	ENSP00000386190:p.Asp1408Gly					ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	p.D1408G	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	4274	+	Acute lymphoblastic leukemia(172;0.155)		1408					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.4223A>G	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	A	13.82	2.350627	0.41599	.	.	ENSG00000221843	ENST00000408964	T	0.51325	0.71	5.01	3.81	0.43845	.	.	.	.	.	T	0.40372	0.1114	N	0.24115	0.695	0.09310	N	1	P	0.50819	0.939	P	0.51193	0.662	T	0.11867	-1.0570	9	0.21540	T	0.41	.	8.7985	0.34894	0.8093:0.1907:0.0:0.0	.	1408	Q68DN1	CB016_HUMAN	G	1408	ENSP00000386190:D1408G	ENSP00000386190:D1408G	D	+	2	0	C2orf16	27657166	0.390000	0.25213	0.023000	0.16930	0.074000	0.17049	2.305000	0.43664	0.800000	0.34041	0.460000	0.39030	GAC		0.488	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1		NM_032266		28	111	0	0	0	0.005443	0	28	111		
PLB1	151056	broad.mit.edu	37	2	28828806	28828806	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:28828806G>T	ENST00000327757.5	+	42	3092	c.3048G>T	c.(3046-3048)tgG>tgT	p.W1016C	PLB1_ENST00000422425.2_Missense_Mutation_p.W1005C|PLB1_ENST00000541605.1_Intron	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	1016	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GAGCCCTTTGGACCAATATGG	0.522																																						uc002rmb.1		NaN																	0				ovary(4)|large_intestine(2)|skin(2)|breast(1)	9						c.(3046-3048)TGG>TGT		phospholipase B1 precursor							120.0	121.0	120.0					2																	28828806		2203	4300	6503	SO:0001583	missense	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28828806G>T		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.3048G>T	2.37:g.28828806G>T	ENSP00000330442:p.Trp1016Cys					PLB1_uc010ezj.1_Missense_Mutation_p.W1005C|PLB1_uc002rme.1_Intron|PLB1_uc002rmf.1_RNA	p.W1016C	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN			42	3048	+	Acute lymphoblastic leukemia(172;0.155)		1016			4 X 308-326 AA approximate repeats.|Extracellular (Potential).|3.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	c.3048G>T	CCDS33168.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.86|16.86	3.238726|3.238726	0.58995|0.58995	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000404858|ENST00000327757;ENST00000422425	.|T;T	.|0.55588	.|0.51;0.51	4.9|4.9	4.9|4.9	0.64082|0.64082	.|Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);	.|0.000000	.|0.53938	.|D	.|0.000056	T|T	0.78477|0.78477	0.4289|0.4289	M|M	0.93197|0.93197	3.39|3.39	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.997;0.994	D|D	0.83810|0.83810	0.0241|0.0241	5|10	.|0.87932	.|D	.|0	-13.3389|-13.3389	13.4255|13.4255	0.61022|0.61022	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1005;1016	.|Q6P1J6-3;Q6P1J6	.|.;PLB1_HUMAN	V|C	1004|1016;1005	.|ENSP00000330442:W1016C;ENSP00000416440:W1005C	.|ENSP00000330442:W1016C	G|W	+|+	2|3	0|0	PLB1|PLB1	28682310|28682310	1.000000|1.000000	0.71417|0.71417	0.959000|0.959000	0.39883|0.39883	0.975000|0.975000	0.68041|0.68041	6.818000|6.818000	0.75257|0.75257	2.538000|2.538000	0.85594|0.85594	0.561000|0.561000	0.74099|0.74099	GGA|TGG		0.522	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2				24	185	1	0	6.12954e-19	0.004656	6.92044e-19	24	185		
GPR75	10936	broad.mit.edu	37	2	54080838	54080838	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:54080838G>C	ENST00000394705.2	-	2	1326	c.1056C>G	c.(1054-1056)ttC>ttG	p.F352L	ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	352					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of neuron death (GO:1901214)	integral component of plasma membrane (GO:0005887)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GGTAAAGAATGAAGCTCCCAT	0.443																																						uc002rxo.3		NaN																	0				ovary(1)|skin(1)	2						c.(1054-1056)TTC>TTG		G protein-coupled receptor 75							71.0	72.0	72.0					2																	54080838		2203	4300	6503	SO:0001583	missense	10936					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:54080838G>C	AF101472	CCDS1849.1	2p16	2012-08-21			ENSG00000119737	ENSG00000119737		"""GPCR / Class A : Orphans"""	4526	protein-coding gene	gene with protein product		606704				10381362	Standard	NM_006794		Approved	WI-31133	uc002rxo.3	O95800	OTTHUMG00000129280	ENST00000394705.2:c.1056C>G	2.37:g.54080838G>C	ENSP00000378195:p.Phe352Leu					ASB3_uc002rxi.3_Intron	p.F352L	NM_006794	NP_006785	O95800	GPR75_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		2	1327	-			352			Helical; Name=7; (Potential).		B2RC02|Q6NWR2	Missense_Mutation	SNP	ENST00000394705.2	37	c.1056C>G	CCDS1849.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.122211	0.56613	.	.	ENSG00000119737	ENST00000394705	T	0.70164	-0.46	5.07	3.08	0.35506	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.64832	0.2634	.	.	.	0.58432	D	0.999993	D	0.61080	0.989	P	0.60173	0.87	T	0.62676	-0.6804	9	0.12103	T	0.63	-19.247	4.7101	0.12868	0.4101:0.0:0.5899:0.0	.	352	O95800	GPR75_HUMAN	L	352	ENSP00000378195:F352L	ENSP00000378195:F352L	F	-	3	2	GPR75	53934342	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.304000	0.33482	1.335000	0.45486	0.555000	0.69702	TTC		0.443	GPR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251403.2				20	91	0	0	0	0.010504	0	20	91		
ADD2	119	broad.mit.edu	37	2	70890760	70890760	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:70890760C>T	ENST00000264436.4	-	16	2422	c.1978G>A	c.(1978-1980)Gaa>Aaa	p.E660K	ADD2_ENST00000355733.3_3'UTR|ADD2_ENST00000407644.2_Missense_Mutation_p.E660K	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	660					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CTGAGGATTTCCTCTGCCGTC	0.577																																						uc002sgz.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(1978-1980)GAA>AAA		adducin 2 isoform a							174.0	147.0	156.0					2																	70890760		2203	4300	6503	SO:0001583	missense	119				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	g.chr2:70890760C>T	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1978G>A	2.37:g.70890760C>T	ENSP00000264436:p.Glu660Lys					ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_3'UTR|ADD2_uc002sha.2_Missense_Mutation_p.E354K|ADD2_uc002sgx.2_3'UTR	p.E660K	NM_001617	NP_001608	P35612	ADDB_HUMAN			16	2443	-			660					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	c.1978G>A	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.444197	0.43429	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320	T;T	0.48836	0.8;0.8	5.44	5.44	0.79542	.	0.475630	0.20998	N	0.081908	T	0.43456	0.1248	M	0.68317	2.08	0.80722	D	1	B;P	0.36282	0.321;0.546	B;B	0.23852	0.049;0.049	T	0.43988	-0.9357	10	0.39692	T	0.17	-6.5742	15.1134	0.72380	0.0:1.0:0.0:0.0	.	660;660	Q05DK5;P35612	.;ADDB_HUMAN	K	660;660;411	ENSP00000264436:E660K;ENSP00000384677:E660K	ENSP00000264436:E660K	E	-	1	0	ADD2	70744268	1.000000	0.71417	0.977000	0.42913	0.005000	0.04900	6.002000	0.70693	2.702000	0.92279	0.655000	0.94253	GAA		0.577	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4		NM_001617		33	141	0	0	0	0.004289	0	33	141		
ALMS1	7840	broad.mit.edu	37	2	73651764	73651764	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:73651764T>A	ENST00000264448.6	+	5	1082	c.971T>A	c.(970-972)aTt>aAt	p.I324N	ALMS1_ENST00000409009.1_Missense_Mutation_p.I282N|ALMS1_ENST00000377715.1_Missense_Mutation_p.I324N	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	324					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GAAGAGACTATTTCGTCTGTT	0.418																																						uc002sje.1		NaN																	0				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(973-975)ATT>AAT		Alstrom syndrome 1							88.0	82.0	84.0					2																	73651764		1877	4119	5996	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73651764T>A	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.971T>A	2.37:g.73651764T>A	ENSP00000264448:p.Ile324Asn					ALMS1_uc002sjf.1_Missense_Mutation_p.I282N	p.I325N	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			6	1085	+			324					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.974T>A	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	T	6.221	0.408967	0.11812	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.18502	3.1;3.1;2.21	5.01	2.69	0.31865	.	0.962525	0.08459	N	0.942648	T	0.22085	0.0532	L	0.36672	1.1	0.09310	N	1	D;P	0.58268	0.982;0.95	P;P	0.53809	0.735;0.735	T	0.16541	-1.0399	10	0.87932	D	0	.	5.8899	0.18904	0.0:0.2017:0.0:0.7983	.	282;324	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	N	282;324;324	ENSP00000386627:I282N;ENSP00000264448:I324N;ENSP00000366944:I324N	ENSP00000264448:I324N	I	+	2	0	ALMS1	73505272	0.000000	0.05858	0.004000	0.12327	0.368000	0.29767	0.099000	0.15210	1.008000	0.39264	0.455000	0.32223	ATT		0.418	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1		NM_015120		9	43	0	0	0	0.004482	0	9	43		
HTRA2	27429	broad.mit.edu	37	2	74757342	74757342	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:74757342C>T	ENST00000258080.3	+	1	839	c.209C>T	c.(208-210)gCa>gTa	p.A70V	AUP1_ENST00000377526.3_5'Flank|HTRA2_ENST00000467961.1_Intron|HTRA2_ENST00000352222.3_Missense_Mutation_p.A70V	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	70					adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						GAACCCCGAGCATGCCTGACG	0.657																																						uc002smi.1		NaN																	0				ovary(1)	1						c.(208-210)GCA>GTA		HtrA serine peptidase 2 isoform 1 preproprotein							12.0	14.0	14.0					2																	74757342		2188	4286	6474	SO:0001583	missense	27429				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding	g.chr2:74757342C>T		CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"""Serine peptidases / Serine peptidases"", ""Parkinson disease"""	14348	protein-coding gene	gene with protein product		606441	"""protease, serine, 25"""	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.209C>T	2.37:g.74757342C>T	ENSP00000258080:p.Ala70Val					AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Missense_Mutation_p.A70V|HTRA2_uc002smk.1_Missense_Mutation_p.A70V|HTRA2_uc002sml.1_Missense_Mutation_p.A70V|HTRA2_uc002smm.1_Intron|HTRA2_uc002smn.1_Intron|HTRA2_uc010ffl.2_5'Flank	p.A70V	NM_013247	NP_037379	O43464	HTRA2_HUMAN			1	811	+			70					Q9HBZ4|Q9P0Y3|Q9P0Y4	Missense_Mutation	SNP	ENST00000258080.3	37	c.209C>T	CCDS1951.1	.	.	.	.	.	.	.	.	.	.	c	6.966	0.548242	0.13312	.	.	ENSG00000115317	ENST00000258080;ENST00000352222;ENST00000437202	T;T;T	0.16073	2.37;2.37;2.37	5.0	4.13	0.48395	.	0.630018	0.15814	N	0.243327	T	0.08088	0.0202	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.002;0.002;0.001	T	0.27157	-1.0082	10	0.30854	T	0.27	-0.1653	6.4715	0.22011	0.178:0.7311:0.0:0.0909	.	70;70;70;70	A8K7G2;O43464-3;O43464-2;O43464	.;.;.;HTRA2_HUMAN	V	70;70;57	ENSP00000258080:A70V;ENSP00000312893:A70V;ENSP00000399166:A57V	ENSP00000258080:A70V	A	+	2	0	HTRA2	74610850	0.011000	0.17503	0.026000	0.17262	0.136000	0.21042	1.793000	0.38764	1.336000	0.45506	-0.461000	0.05368	GCA		0.657	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2		NM_013247		4	14	0	0	0	0.009096	0	4	14		
LRRTM4	80059	broad.mit.edu	37	2	77746503	77746503	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:77746503C>G	ENST00000409093.1	-	3	828	c.492G>C	c.(490-492)ttG>ttC	p.L164F	LRRTM4_ENST00000409282.1_Missense_Mutation_p.L165F|LRRTM4_ENST00000409088.3_Missense_Mutation_p.L164F|LRRTM4_ENST00000409911.1_Missense_Mutation_p.L165F|LRRTM4_ENST00000409884.1_Missense_Mutation_p.L164F			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	164					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AGTTAGATCTCAAGTGCAAAA	0.413																																						uc002snr.2		NaN																	0				pancreas(3)|ovary(1)	4						c.(490-492)TTG>TTC		leucine rich repeat transmembrane neuronal 4							65.0	61.0	62.0					2																	77746503		1837	4082	5919	SO:0001583	missense	80059					integral to membrane		g.chr2:77746503C>G	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.492G>C	2.37:g.77746503C>G	ENSP00000386357:p.Leu164Phe					LRRTM4_uc002snq.2_Missense_Mutation_p.L164F|LRRTM4_uc002sns.2_Missense_Mutation_p.L164F|LRRTM4_uc002snt.2_Missense_Mutation_p.L165F	p.L164F	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	907	-			164			LRR 5.|Extracellular (Potential).		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.492G>C	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.662082	0.29515	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93	5.83	5.83	0.93111	.	0.180325	0.39274	N	0.001417	D	0.83862	0.5346	M	0.87269	2.87	0.58432	D	0.999996	B;B;P	0.40681	0.383;0.148;0.727	B;B;P	0.46940	0.272;0.178;0.532	D	0.86044	0.1521	10	0.87932	D	0	.	18.68	0.91544	0.0:1.0:0.0:0.0	.	165;164;164	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	F	165;164;164;164;165	ENSP00000387228:L165F;ENSP00000387297:L164F;ENSP00000386357:L164F;ENSP00000386236:L164F;ENSP00000386286:L165F	ENSP00000386236:L164F	L	-	3	2	LRRTM4	77600011	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.564000	0.36375	2.757000	0.94681	0.563000	0.77884	TTG		0.413	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1		NM_024993		8	80	0	0	0	0.006214	0	8	80		
ZNF2	7549	broad.mit.edu	37	2	95847683	95847683	+	Silent	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:95847683T>C	ENST00000340539.5	+	5	1572	c.1110T>C	c.(1108-1110)taT>taC	p.Y370Y	ZNF2_ENST00000425369.1_Silent_p.Y290Y|ZNF2_ENST00000295210.6_Silent_p.Y332Y|ZNF2_ENST00000398107.2_Silent_p.Y328Y|ZNF2_ENST00000453539.2_Silent_p.Y383Y	NM_021088.2	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	370				Y -> H (in Ref. 3; AAH05068). {ECO:0000305}.	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)			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		ACAAGCCATATGAATGCAGCG	0.552																																						uc002suf.2		NaN																	0					0						c.(1105-1107)TAT>TAC		zinc finger protein 2 isoform a							83.0	94.0	90.0					2																	95847683		2172	4289	6461	SO:0001819	synonymous_variant	7549				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:95847683T>C	X60152	CCDS42712.1, CCDS42713.1, CCDS62957.1	2q11.1	2013-09-24	2005-02-07		ENSG00000163067	ENSG00000275111		"""Zinc fingers, C2H2-type"", ""-"""	12991	protein-coding gene	gene with protein product		194500	"""zinc finger protein 2 (A1-5)"""			8183940, 1945843	Standard	NM_021088		Approved	A1-5, ZNF661, Zfp661	uc002suf.3	Q9BSG1	OTTHUMG00000155150	ENST00000340539.5:c.1110T>C	2.37:g.95847683T>C						ZNF2_uc002sug.2_Silent_p.Y327Y|ZNF2_uc010yue.1_Silent_p.Y332Y|ZNF2_uc010fhs.2_Silent_p.Y290Y	p.Y369Y	NM_021088	NP_066574	Q9BSG1	ZNF2_HUMAN		READ - Rectum adenocarcinoma(193;0.0222)	6	1569	+		Ovarian(717;0.00768)	369	Y -> H (in Ref. 2; AAH05068).		C2H2-type 8.		A8MWV7|B4DIR4|Q4ZFY6|Q96G44|Q9UMC5	Silent	SNP	ENST00000340539.5	37	c.1107T>C	CCDS42712.1																																																																																				0.552	ZNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338595.2		NM_021088		31	169	0	0	0	0.011902	0	31	169		
CNNM4	26504	broad.mit.edu	37	2	97427544	97427544	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:97427544A>T	ENST00000377075.2	+	1	906	c.808A>T	c.(808-810)Atg>Ttg	p.M270L		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	270	DUF21.				biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						GTCCGGCCTCATGGCGGTGGC	0.592																																						uc002swx.2		NaN																	0				breast(2)|ovary(1)	3						c.(808-810)ATG>TTG		cyclin M4							149.0	143.0	145.0					2																	97427544		2203	4300	6503	SO:0001583	missense	26504				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		g.chr2:97427544A>T	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"""cyclin M4"""	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.808A>T	2.37:g.97427544A>T	ENSP00000366275:p.Met270Leu						p.M270L	NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN			1	906	+			270			Helical; (Potential).|DUF21.		B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	ENST00000377075.2	37	c.808A>T	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	A	11.64	1.697941	0.30142	.	.	ENSG00000158158	ENST00000377075	D	0.86164	-2.08	5.02	0.134	0.14771	Domain of unknown function DUF21 (1);	0.507322	0.23694	N	0.045487	T	0.64360	0.2591	N	0.02247	-0.625	0.80722	D	1	B	0.12013	0.005	B	0.19666	0.026	T	0.47598	-0.9105	10	0.12766	T	0.61	-17.5326	7.9094	0.29782	0.5163:0.0:0.4837:0.0	.	270	Q6P4Q7	CNNM4_HUMAN	L	270	ENSP00000366275:M270L	ENSP00000366275:M270L	M	+	1	0	CNNM4	96791271	0.998000	0.40836	0.904000	0.35570	0.996000	0.88848	2.406000	0.44557	0.269000	0.21961	0.529000	0.55759	ATG		0.592	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1		NM_020184		12	176	0	0	0	0.00245	0	12	176		
AFF3	3899	broad.mit.edu	37	2	100170804	100170804	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:100170804C>G	ENST00000409236.2	-	22	3640	c.3528G>C	c.(3526-3528)gaG>gaC	p.E1176D	AFF3_ENST00000356421.2_Missense_Mutation_p.E1201D|AFF3_ENST00000317233.4_Missense_Mutation_p.E1176D|AFF3_ENST00000409579.1_Missense_Mutation_p.E1201D			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	1176					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGTCGGCCATCTCCCAGTAGT	0.632																																						uc002tag.2		NaN																	0				ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						c.(3526-3528)GAG>GAC		AF4/FMR2 family, member 3 isoform 1							134.0	115.0	122.0					2																	100170804		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100170804C>G	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.3528G>C	2.37:g.100170804C>G	ENSP00000387207:p.Glu1176Asp					AFF3_uc002taf.2_Missense_Mutation_p.E1201D	p.E1176D	NM_002285	NP_002276	P51826	AFF3_HUMAN			23	3764	-			1176					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.3528G>C	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.012035	0.35511	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	5.49	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.65302	0.2678	L	0.35249	1.045	0.58432	D	0.999994	P;D	0.89917	0.694;1.0	P;D	0.83275	0.454;0.996	T	0.61352	-0.7080	10	0.02654	T	1	.	14.6459	0.68759	0.0:0.9289:0.0:0.0711	.	1176;1201	P51826;P51826-2	AFF3_HUMAN;.	D	1176;1201;1201;1176	ENSP00000317421:E1176D;ENSP00000348793:E1201D;ENSP00000386834:E1201D;ENSP00000387207:E1176D	ENSP00000317421:E1176D	E	-	3	2	AFF3	99537236	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.649000	0.46656	1.281000	0.44480	0.655000	0.94253	GAG		0.632	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3		NM_002285		10	190	0	0	0	0.008291	0	10	190		
IL1B	3553	broad.mit.edu	37	2	113590327	113590327	+	Silent	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:113590327G>C	ENST00000263341.2	-	5	588	c.378C>G	c.(376-378)ctC>ctG	p.L126L	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	126					activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular response to drug (GO:0035690)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to organic substance (GO:0071310)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|embryo implantation (GO:0007566)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|hyaluronan biosynthetic process (GO:0030213)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-1 beta production (GO:0032611)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|monocyte aggregation (GO:0070487)|negative regulation of adiponectin secretion (GO:0070164)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of MAP kinase activity (GO:0043407)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion molecule production (GO:0060355)|positive regulation of cell division (GO:0051781)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myosin light chain kinase activity (GO:0035505)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell mediated immunity (GO:0002711)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein kinase B signaling (GO:0043491)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of insulin secretion (GO:0050796)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|sequestering of triglyceride (GO:0030730)|signal transduction (GO:0007165)|smooth muscle adaptation (GO:0014805)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	cytokine activity (GO:0005125)|interleukin-1 receptor binding (GO:0005149)|protein domain specific binding (GO:0019904)			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Canakinumab(DB06168)|Gallium nitrate(DB05260)|Minocycline(DB01017)|Rilonacept(DB06372)	GTGAGTCCCGGAGCGTGCAGT	0.478																																						uc002tii.1		NaN																	0				lung(3)|breast(1)	4						c.(376-378)CTC>CTG		interleukin 1, beta proprotein	Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)						213.0	184.0	193.0					2																	113590327		2203	4300	6503	SO:0001819	synonymous_variant	3553				activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding	g.chr2:113590327G>C	M15330	CCDS2102.1	2q14	2014-01-30			ENSG00000125538	ENSG00000125538		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	5992	protein-coding gene	gene with protein product		147720				2954882, 2989698	Standard	NM_000576		Approved	IL1F2, IL-1B, IL1-BETA	uc002tii.1	P01584	OTTHUMG00000131344	ENST00000263341.2:c.378C>G	2.37:g.113590327G>C						IL1B_uc002tih.1_Silent_p.L95L	p.L126L	NM_000576	NP_000567	P01584	IL1B_HUMAN			5	465	-			126					Q53X59|Q53XX2|Q7M4S7|Q7RU01|Q96HE5|Q9UCT6	Silent	SNP	ENST00000263341.2	37	c.378C>G	CCDS2102.1																																																																																				0.478	IL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254125.2		NM_000576		14	157	0	0	0	0.008871	0	14	157		
NCKAP5	344148	broad.mit.edu	37	2	133887605	133887606	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:133887605_133887606GG>TT	ENST00000409261.1	-	6	658_659	c.285_286CC>AA	c.(283-288)acCCta>acAAta	p.L96I	NCKAP5_ENST00000405974.3_Missense_Mutation_p.L96I|NCKAP5_ENST00000317721.6_Missense_Mutation_p.L96I|NCKAP5_ENST00000409213.1_Missense_Mutation_p.L96I	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	96										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCAGACTCTAGGGTCACCTCCT	0.48																																						uc002ttp.2		NaN																	0					0						c.(283-288)ACCCTA>ACAATA		Nck-associated protein 5 isoform 1																																				SO:0001583	missense	344148						protein binding	g.chr2:133887605_133887606GG>TT	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.285_286delinsTT	2.37:g.133887605_133887606delinsTT	ENSP00000387128:p.Leu96Ile					NCKAP5_uc002ttq.2_Missense_Mutation_p.L96I|NCKAP5_uc002ttt.1_Missense_Mutation_p.L96I|NCKAP5_uc002tts.1_Missense_Mutation_p.L71I	p.L96I	NM_207363	NP_997246	O14513	NCKP5_HUMAN			6	659_660	-			96			Potential.		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	DNP	ENST00000409261.1	37	c.285_286CC>AA	CCDS46418.1																																																																																				0.480	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1		NM_207481		5	28	0	0	0	0.004672	0	5	28		
NEB	4703	broad.mit.edu	37	2	152536298	152536298	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:152536298A>G	ENST00000172853.10	-	32	3339	c.3192T>C	c.(3190-3192)taT>taC	p.Y1064Y	NEB_ENST00000427231.2_Silent_p.Y1064Y|NEB_ENST00000409198.1_Silent_p.Y1064Y|NEB_ENST00000603639.1_Silent_p.Y1064Y|NEB_ENST00000397345.3_Silent_p.Y1064Y|NEB_ENST00000604864.1_Silent_p.Y1064Y			P20929	NEBU_HUMAN	nebulin	1064					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCTCAGGTCATATCCCTTCT	0.443																																						uc010fnx.2		NaN																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(3190-3192)TAT>TAC		nebulin isoform 3							111.0	110.0	110.0					2																	152536298		1957	4155	6112	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152536298A>G	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.3192T>C	2.37:g.152536298A>G							p.Y1064Y	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	32	3383	-			1064			Nebulin 26.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.3192T>C																																																																																					0.443	NEB-201	KNOWN	basic	protein_coding	protein_coding			NM_004543		10	117	0	0	0	0.001855	0	10	117		
TBR1	10716	broad.mit.edu	37	2	162273127	162273127	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:162273127C>T	ENST00000389554.3	+	1	523	c.206C>T	c.(205-207)cCt>cTt	p.P69L	TBR1_ENST00000410035.1_5'Flank	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	69					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						GACAATTTTCCTGACTCCAAG	0.488																																						uc002ubw.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(205-207)CCT>CTT		T-box, brain, 1							83.0	90.0	88.0					2																	162273127		2203	4300	6503	SO:0001583	missense	10716					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:162273127C>T	U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"""T-boxes"""	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.206C>T	2.37:g.162273127C>T	ENSP00000374205:p.Pro69Leu					TBR1_uc010foy.2_5'Flank	p.P69L	NM_006593	NP_006584	Q16650	TBR1_HUMAN			1	508	+			69					B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Missense_Mutation	SNP	ENST00000389554.3	37	c.206C>T	CCDS33310.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.362954	0.41902	.	.	ENSG00000136535	ENST00000389554	D	0.86627	-2.15	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.80742	0.4681	N	0.22421	0.69	0.80722	D	1	B	0.31318	0.319	B	0.30029	0.11	T	0.80495	-0.1357	10	0.56958	D	0.05	.	17.349	0.87317	0.0:1.0:0.0:0.0	.	69	Q16650	TBR1_HUMAN	L	69	ENSP00000374205:P69L	ENSP00000374205:P69L	P	+	2	0	TBR1	161981373	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.410000	0.80065	2.688000	0.91661	0.655000	0.94253	CCT		0.488	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1		NM_006593		11	72	0	0	0	0.013537	0	11	72		
DHRS9	10170	broad.mit.edu	37	2	169948457	169948457	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:169948457G>A	ENST00000327239.4	+	7	2234	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	DHRS9_ENST00000602501.1_Missense_Mutation_p.E244K|DHRS9_ENST00000432060.2_Missense_Mutation_p.E304K|DHRS9_ENST00000357546.2_Missense_Mutation_p.E244K|DHRS9_ENST00000421653.1_Missense_Mutation_p.E97K|DHRS9_ENST00000428522.1_Missense_Mutation_p.E244K|DHRS9_ENST00000436483.2_Missense_Mutation_p.E244K|DHRS9_ENST00000412271.1_Missense_Mutation_p.E244K	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	244					9-cis-retinoic acid biosynthetic process (GO:0042904)|androgen metabolic process (GO:0008209)|epithelial cell differentiation (GO:0030855)|progesterone metabolic process (GO:0042448)|retinol metabolic process (GO:0042572)	integral component of endoplasmic reticulum membrane (GO:0030176)	alcohol dehydrogenase (NAD) activity (GO:0004022)|racemase and epimerase activity (GO:0016854)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						AGGTTACATTGAAAAAAGTGA	0.403																																						uc002uep.2		NaN																	0					0						c.(730-732)GAA>AAA		NADP-dependent retinol dehydrogenase/reductase							46.0	47.0	46.0					2																	169948457		2203	4300	6503	SO:0001583	missense	10170				9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity	g.chr2:169948457G>A	AF067174	CCDS2231.1, CCDS74600.1	2q31.1	2011-09-14			ENSG00000073737	ENSG00000073737		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	16888	protein-coding gene	gene with protein product	"""NADP-dependent retinol dehydrogenase/reductase"", ""3-alpha hydroxysteroid dehydrogenase"", ""retinol dehydrogenase homolog"", ""short chain dehydrogenase/reductase family 9C, member 4"""	612131				11304534, 11294878, 19027726	Standard	NM_001142270		Approved	RDHL, 3alpha-HSD, RETSDR8, RDH15, SDR9C4	uc010zde.2	Q9BPW9	OTTHUMG00000132180	ENST00000327239.4:c.730G>A	2.37:g.169948457G>A	ENSP00000316670:p.Glu244Lys					DHRS9_uc002ueq.2_Missense_Mutation_p.E244K|DHRS9_uc010zdc.1_Missense_Mutation_p.E304K|DHRS9_uc010zdd.1_Missense_Mutation_p.E244K|DHRS9_uc010zde.1_Missense_Mutation_p.E244K	p.E244K	NM_005771	NP_005762	Q9BPW9	DHRS9_HUMAN			7	2234	+			244					B7Z416|D3DPC1|Q5RKX1|Q9NRA9|Q9NRB0	Missense_Mutation	SNP	ENST00000327239.4	37	c.730G>A	CCDS2231.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.358586	0.41801	.	.	ENSG00000073737	ENST00000327239;ENST00000357546;ENST00000432060;ENST00000428522;ENST00000421653;ENST00000436483;ENST00000412271	D;D;D;D;D;D;D	0.90444	-1.87;-1.87;-1.92;-1.87;-2.67;-1.87;-1.87	5.93	5.93	0.95920	NAD(P)-binding domain (1);	0.402596	0.29822	N	0.011114	D	0.86418	0.5928	L	0.58354	1.805	0.32474	N	0.542424	B;B	0.26318	0.146;0.127	B;B	0.20955	0.032;0.017	T	0.83068	-0.0144	10	0.23891	T	0.37	.	9.0197	0.36193	0.0754:0.2576:0.667:0.0	.	304;244	B7Z416;Q9BPW9	.;DHRS9_HUMAN	K	244;244;304;244;97;244;244	ENSP00000316670:E244K;ENSP00000350154:E244K;ENSP00000389241:E304K;ENSP00000388564:E244K;ENSP00000388066:E97K;ENSP00000407167:E244K;ENSP00000407747:E244K	ENSP00000316670:E244K	E	+	1	0	DHRS9	169656703	0.214000	0.23563	1.000000	0.80357	0.992000	0.81027	0.665000	0.25083	2.814000	0.96858	0.591000	0.81541	GAA		0.403	DHRS9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333612.3		NM_005771		4	43	0	0	0	0.009096	0	4	43		
MTX2	10651	broad.mit.edu	37	2	177161616	177161616	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:177161616A>G	ENST00000249442.6	+	2	280	c.69A>G	c.(67-69)acA>acG	p.T23T	MTX2_ENST00000443241.1_Intron|MTX2_ENST00000392529.2_Silent_p.T13T	NM_006554.4	NP_006545.1	O75431	MTX2_HUMAN	metaxin 2	23					cellular protein metabolic process (GO:0044267)|mitochondrial transport (GO:0006839)|protein targeting to mitochondrion (GO:0006626)	mitochondrial outer membrane (GO:0005741)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)			AAAATGCTACATTATATCAGC	0.313																																						uc002ukx.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(67-69)ACA>ACG		metaxin 2							131.0	129.0	130.0					2																	177161616		2203	4300	6503	SO:0001819	synonymous_variant	10651				protein targeting to mitochondrion	mitochondrial outer membrane		g.chr2:177161616A>G	AF053551	CCDS2272.1	2q31.1	2012-02-07			ENSG00000128654	ENSG00000128654			7506	protein-coding gene	gene with protein product		608555				10381257, 17624330	Standard	NM_006554		Approved		uc002ukx.3	O75431	OTTHUMG00000132514	ENST00000249442.6:c.69A>G	2.37:g.177161616A>G						MTX2_uc002ukw.2_Silent_p.T13T	p.T23T	NM_006554	NP_006545	O75431	MTX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)		2	304	+			23					A8JZZ4|Q53S50|Q53SQ2|Q5M7Z6|Q8IZ68	Silent	SNP	ENST00000249442.6	37	c.69A>G	CCDS2272.1																																																																																				0.313	MTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255695.4		NM_006554		21	150	0	0	0	0.003954	0	21	150		
TTN	7273	broad.mit.edu	37	2	179635334	179635334	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:179635334C>G	ENST00000591111.1	-	35	8409	c.8185G>C	c.(8185-8187)Gag>Cag	p.E2729Q	TTN_ENST00000342175.6_Missense_Mutation_p.E2683Q|TTN_ENST00000342992.6_Missense_Mutation_p.E2729Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E2683Q|TTN_ENST00000589042.1_Missense_Mutation_p.E2729Q|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E2683Q|TTN_ENST00000360870.5_Missense_Mutation_p.E2729Q			Q8WZ42	TITIN_HUMAN	titin	13056					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTGTAAGCTCGACAGTGAAA	0.378																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(8185-8187)GAG>CAG		titin isoform N2-A							158.0	154.0	155.0					2																	179635334		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179635334C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.8185G>C	2.37:g.179635334C>G	ENSP00000465570:p.Glu2729Gln					TTN_uc010zfh.1_Missense_Mutation_p.E2683Q|TTN_uc010zfi.1_Missense_Mutation_p.E2683Q|TTN_uc010zfj.1_Missense_Mutation_p.E2683Q|TTN_uc002unb.2_Missense_Mutation_p.E2729Q	p.E2729Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		35	8409	-			2729					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.8185G>C		.	.	.	.	.	.	.	.	.	.	C	13.68	2.310781	0.40895	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24	5.66	4.79	0.61399	Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83436	0.5254	M	0.84511	2.7	0.30508	N	0.769699	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.986	D;D;D;D;P	0.91635	0.999;0.999;0.999;0.999;0.862	D	0.83663	0.0162	9	0.87932	D	0	.	14.9709	0.71232	0.0:0.9313:0.0:0.0687	.	2683;2683;2683;2729;2729	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Q	2729;2683;2683;2683;2683;2729	ENSP00000343764:E2729Q;ENSP00000434586:E2683Q;ENSP00000340554:E2683Q;ENSP00000352154:E2683Q;ENSP00000354117:E2729Q	ENSP00000340554:E2683Q	E	-	1	0	TTN	179343579	1.000000	0.71417	0.686000	0.30086	0.990000	0.78478	6.028000	0.70889	1.536000	0.49237	0.655000	0.94253	GAG		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		16	136	0	0	0	0.007413	0	16	136		
SLC39A10	57181	broad.mit.edu	37	2	196581361	196581361	+	Splice_Site	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:196581361G>C	ENST00000409086.3	+	7	1972	c.1697G>C	c.(1696-1698)gGa>gCa	p.G566A	SLC39A10_ENST00000359634.5_Splice_Site_p.G566A|SLC39A10_ENST00000541054.1_Splice_Site_p.G116A	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	566					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			ATAAATACAGGAACTGATGAC	0.323																																						uc002utg.3		NaN																	0				pancreas(1)|skin(1)	2						c.(1696-1698)GGA>GCA		solute carrier family 39 (zinc transporter),							37.0	39.0	38.0					2																	196581361		2201	4300	6501	SO:0001630	splice_region_variant	57181				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr2:196581361G>C		CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"""Solute carriers"""	20861	protein-coding gene	gene with protein product		608733	"""solute carrier family 39 (metal ion transporter), member 10"""			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.1697-1G>C	2.37:g.196581361G>C						SLC39A10_uc002uth.3_Missense_Mutation_p.G566A|SLC39A10_uc010zgp.1_Missense_Mutation_p.G116A	p.G566A	NM_001127257	NP_001120729	Q9ULF5	S39AA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.221)		7	1911	+			566					A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Missense_Mutation	SNP	ENST00000409086.3	37	c.1697G>C	CCDS33353.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.306445	0.23736	.	.	ENSG00000196950	ENST00000409086;ENST00000359634;ENST00000541054	T;T;T	0.68903	-0.09;-0.09;-0.36	5.54	5.54	0.83059	.	0.413941	0.29646	N	0.011567	T	0.52354	0.1729	N	0.17838	0.53	0.45704	D	0.998617	B	0.29552	0.248	B	0.31245	0.126	T	0.47045	-0.9147	9	.	.	.	.	15.1907	0.73041	0.0:0.1402:0.8598:0.0	.	566	Q9ULF5	S39AA_HUMAN	A	566;566;116	ENSP00000386766:G566A;ENSP00000352655:G566A;ENSP00000437787:G116A	.	G	+	2	0	SLC39A10	196289606	1.000000	0.71417	1.000000	0.80357	0.413000	0.31143	4.390000	0.59646	2.890000	0.99128	0.650000	0.86243	GGA		0.323	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335186.1		XM_047707	Missense_Mutation	11	82	0	0	0	0.013537	0	11	82		
FN1	2335	broad.mit.edu	37	2	216245603	216245603	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:216245603A>G	ENST00000359671.1	-	32	5357	c.5092T>C	c.(5092-5094)Tac>Cac	p.Y1698H	FN1_ENST00000346544.3_Missense_Mutation_p.Y1698H|FN1_ENST00000357009.2_Missense_Mutation_p.Y1698H|FN1_ENST00000345488.5_Missense_Mutation_p.Y1698H|FN1_ENST00000357867.4_Intron|FN1_ENST00000446046.1_Missense_Mutation_p.Y1698H|FN1_ENST00000443816.1_Intron|FN1_ENST00000490833.1_5'UTR|FN1_ENST00000354785.4_Missense_Mutation_p.Y1789H|FN1_ENST00000323926.6_Missense_Mutation_p.Y1789H|FN1_ENST00000336916.4_Missense_Mutation_p.Y1698H|FN1_ENST00000432072.2_Intron|FN1_ENST00000421182.1_Intron|FN1_ENST00000356005.4_Intron			P02751	FINC_HUMAN	fibronectin 1	1698	Fibronectin type-III 12; extra domain. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CTGACTGTGTACTCAGAACCC	0.542																																						uc002vfa.2		NaN																	0				central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(5365-5367)TAC>CAC		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						132.0	126.0	128.0					2																	216245603		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216245603A>G		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.5092T>C	2.37:g.216245603A>G	ENSP00000352696:p.Tyr1698His					FN1_uc002vfb.2_Intron|FN1_uc002vfc.2_Intron|FN1_uc002vfd.2_Missense_Mutation_p.Y1789H|FN1_uc002vfe.2_Missense_Mutation_p.Y1698H|FN1_uc002vff.2_Missense_Mutation_p.Y1698H|FN1_uc002vfg.2_Intron|FN1_uc002vfh.2_Intron|FN1_uc002vfi.2_Missense_Mutation_p.Y1789H|FN1_uc002vfj.2_Intron|FN1_uc002vez.2_5'UTR|FN1_uc010zjp.1_Intron|FN1_uc002vfk.1_5'Flank|FN1_uc010fva.1_5'Flank|FN1_uc010fvb.1_5'Flank|FN1_uc010fvc.1_Missense_Mutation_p.Y151H|FN1_uc010fvd.1_Intron	p.Y1789H	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	33	5631	-		Renal(323;0.127)	1788			Heparin-binding 2.|Fibronectin type-III 13.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.5365T>C		.	.	.	.	.	.	.	.	.	.	A	20.9	4.061702	0.76187	.	.	ENSG00000115414	ENST00000323926;ENST00000336916;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046	D;D;D;D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	6.17	5.02	0.67125	.	0.000000	0.64402	D	0.000010	D	0.95705	0.8603	H	0.94462	3.54	0.80722	D	1	P;D;D;D;D;D	0.89917	0.933;1.0;1.0;1.0;1.0;0.999	P;D;D;D;D;D	0.97110	0.479;0.994;0.999;1.0;0.999;0.999	D	0.95989	0.8984	10	0.87932	D	0	.	12.092	0.53733	0.9337:0.0:0.0663:0.0	.	1698;1789;1698;1698;1699;1789	F8W7G7;P02751-7;E9PE77;P02751-3;E7ERA1;P02751-15	.;.;.;.;.;.	H	1789;1698;1789;1699;1698;1698;1698;1698;1698	ENSP00000323534:Y1789H;ENSP00000338200:Y1698H;ENSP00000346839:Y1789H;ENSP00000352696:Y1698H;ENSP00000265312:Y1698H;ENSP00000273049:Y1698H;ENSP00000349509:Y1698H;ENSP00000410422:Y1698H	ENSP00000265313:Y1699H	Y	-	1	0	FN1	215953848	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	1.160000	0.42584	0.533000	0.62120	TAC		0.542	FN1-204	KNOWN	basic	protein_coding	protein_coding			NM_212476		22	127	0	0	0	0.010504	0	22	127		
ARPC2	10109	broad.mit.edu	37	2	219110212	219110212	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:219110212C>G	ENST00000295685.10	+	7	880	c.619C>G	c.(619-621)Ctg>Gtg	p.L207V	ARPC2_ENST00000477992.1_3'UTR|ARPC2_ENST00000315717.5_Missense_Mutation_p.L207V	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	207					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		GGAACCTCCTCTGGAGCTGAA	0.527																																						uc002vhd.2		NaN																	0				ovary(1)	1						c.(619-621)CTG>GTG		actin related protein 2/3 complex subunit 2							103.0	105.0	104.0					2																	219110212		2203	4300	6503	SO:0001583	missense	10109				cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton	g.chr2:219110212C>G	AF006085	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466		"""Actin related protein 2/3 complex subunits"""	705	protein-coding gene	gene with protein product		604224	"""actin related protein 2/3 complex, subunit 2 (34 kD)"""			9359840, 9230079	Standard	NM_005731		Approved	p34-Arc, ARC34	uc002vhd.4	O15144	OTTHUMG00000133618	ENST00000295685.10:c.619C>G	2.37:g.219110212C>G	ENSP00000295685:p.Leu207Val					ARPC2_uc002vhe.2_Missense_Mutation_p.L207V|ARPC2_uc002vhf.2_Missense_Mutation_p.L93V	p.L207V	NM_152862	NP_690601	O15144	ARPC2_HUMAN		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)	8	731	+		Renal(207;0.0474)	207					Q92801|Q9P1D4	Missense_Mutation	SNP	ENST00000295685.10	37	c.619C>G	CCDS2410.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.904637	0.52333	.	.	ENSG00000163466	ENST00000315717;ENST00000295685;ENST00000456575	.	.	.	5.65	2.72	0.32119	.	0.071774	0.64402	D	0.000018	T	0.72581	0.3478	M	0.92738	3.34	0.80722	D	1	B	0.22276	0.067	B	0.31290	0.127	T	0.73151	-0.4073	9	0.72032	D	0.01	.	7.458	0.27278	0.0:0.65:0.0:0.35	.	207	O15144	ARPC2_HUMAN	V	207;207;22	.	ENSP00000295685:L207V	L	+	1	2	ARPC2	218818457	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	1.264000	0.33015	0.948000	0.37687	0.655000	0.94253	CTG		0.527	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256777.2		NM_005731		11	99	0	0	0	0.010729	0	11	99		
WNT10A	80326	broad.mit.edu	37	2	219746934	219746934	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:219746934C>T	ENST00000258411.3	+	2	798	c.165C>T	c.(163-165)ctC>ctT	p.L55L		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	55					cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|epidermis morphogenesis (GO:0048730)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|neural crest cell differentiation (GO:0014033)|neuron differentiation (GO:0030182)|odontogenesis (GO:0042476)|positive regulation of gene expression (GO:0010628)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sebaceous gland development (GO:0048733)|skin development (GO:0043588)|tongue development (GO:0043586)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCCCGTGCTCAATGCCAACA	0.617																																						uc002vjd.1		NaN																	0				lung(1)|skin(1)	2						c.(163-165)CTC>CTT		wingless-type MMTV integration site family,							73.0	70.0	71.0					2																	219746934		2203	4300	6503	SO:0001819	synonymous_variant	80326				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr2:219746934C>T	AB059569	CCDS2426.1	2q35	2008-05-23			ENSG00000135925	ENSG00000135925		"""Wingless-type MMTV integration sites"""	13829	protein-coding gene	gene with protein product		606268				11350055, 17847007	Standard	NM_025216		Approved		uc002vjd.1	Q9GZT5	OTTHUMG00000133085	ENST00000258411.3:c.165C>T	2.37:g.219746934C>T							p.L55L	NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	628	+		Renal(207;0.0474)	55					Q53S44|Q96TA7|Q9H7S8	Silent	SNP	ENST00000258411.3	37	c.165C>T	CCDS2426.1	.	.	.	.	.	.	.	.	.	.	C	9.877	1.200449	0.22121	.	.	ENSG00000135925	ENST00000458582	.	.	.	4.43	2.49	0.30216	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4388	0.55614	0.0:0.4382:0.5618:0.0	.	.	.	.	X	18	.	.	Q	+	1	0	WNT10A	219455178	0.993000	0.37304	1.000000	0.80357	0.960000	0.62799	0.187000	0.16998	1.066000	0.40716	-0.305000	0.09177	CAA		0.617	WNT10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256730.2		NM_025216		19	67	0	0	0	0.00278	0	19	67		
COL4A3	1285	broad.mit.edu	37	2	228172496	228172496	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:228172496G>A	ENST00000396578.3	+	48	4485	c.4323G>A	c.(4321-4323)tgG>tgA	p.W1441*	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1441	Epitope recognized by Goodpasture antibodies.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CTGCAACCTGGACAACGAGAG	0.468																																						uc002vom.1		NaN																	0				skin(2)|ovary(1)	3						c.(4321-4323)TGG>TGA		alpha 3 type IV collagen isoform 1 precursor							112.0	111.0	111.0					2																	228172496		1990	4165	6155	SO:0001587	stop_gained	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228172496G>A		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.4323G>A	2.37:g.228172496G>A	ENSP00000379823:p.Trp1441*					COL4A3_uc002von.1_Nonsense_Mutation_p.W1441*|COL4A3_uc002voo.1_Nonsense_Mutation_p.W1441*|COL4A3_uc002vop.1_Intron|uc002voq.1_Intron|uc002vor.1_Intron|COL4A3_uc010fxf.1_5'UTR	p.W1441*	NM_000091	NP_000082	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	48	4485	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	1441			Epitope recognized by Goodpasture antibodies.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Nonsense_Mutation	SNP	ENST00000396578.3	37	c.4323G>A	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	G	43	9.947257	0.99302	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000315699	.	.	.	5.91	-0.493	0.12038	.	0.917320	0.09245	N	0.828723	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	4.5622	0.12166	0.3427:0.0:0.3385:0.3188	.	.	.	.	X	1441	.	ENSP00000323334:W1441X	W	+	3	0	COL4A3	227880740	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.139000	0.16036	-0.088000	0.12506	-0.150000	0.13652	TGG		0.468	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2		NM_000091		13	88	0	0	0	0.00245	0	13	88		
ALPI	248	broad.mit.edu	37	2	233321093	233321093	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:233321093G>A	ENST00000295463.3	+	2	179	c.102G>A	c.(100-102)caG>caA	p.Q34Q		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	34					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GGAACCGCCAGGCAGCTGAGG	0.627																																						uc002vst.3		NaN																	0				central_nervous_system(1)	1						c.(100-102)CAG>CAA		intestinal alkaline phosphatase precursor							65.0	68.0	67.0					2																	233321093		2203	4300	6503	SO:0001819	synonymous_variant	248				phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	g.chr2:233321093G>A	M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.102G>A	2.37:g.233321093G>A						ALPI_uc002vsu.3_5'UTR	p.Q34Q	NM_001631	NP_001622	P09923	PPBI_HUMAN		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)	2	179	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	34					B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Silent	SNP	ENST00000295463.3	37	c.102G>A	CCDS2492.1																																																																																				0.627	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2		NM_001631		17	79	0	0	0	0.007413	0	17	79		
MTERF4	130916	broad.mit.edu	37	2	242035577	242035577	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:242035577C>G	ENST00000391980.2	-	4	1040	c.982G>C	c.(982-984)Gag>Cag	p.E328Q	MTERFD2_ENST00000495694.1_Intron|MTERFD2_ENST00000406593.1_Missense_Mutation_p.E140Q|MTERFD2_ENST00000464344.2_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		328					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	rRNA binding (GO:0019843)			endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		GTGCTGCTCTCAGACTCCTCC	0.483																																						uc002wan.1		NaN																	0				ovary(1)	1						c.(1069-1071)GAG>CAG		MTERF domain containing 2							210.0	160.0	177.0					2																	242035577		2203	4300	6503	SO:0001583	missense	130916							g.chr2:242035577C>G																												ENST00000391980.2:c.982G>C	2.37:g.242035577C>G	ENSP00000375840:p.Glu328Gln					MTERFD2_uc010zoj.1_Missense_Mutation_p.E140Q	p.E357Q	NM_182501	NP_872307	Q7Z6M4	MTER2_HUMAN		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)	3	1562	-		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	328					A8K6K0|Q9P0E0	Missense_Mutation	SNP	ENST00000391980.2	37	c.1069G>C	CCDS2544.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625156	0.46840	.	.	ENSG00000122085	ENST00000391980;ENST00000406593;ENST00000439144	T;T;T	0.37915	3.19;4.27;1.17	5.53	5.53	0.82687	.	0.595751	0.16115	N	0.228899	T	0.22244	0.0536	N	0.08118	0	0.23411	N	0.997738	P	0.38250	0.624	B	0.37943	0.261	T	0.14924	-1.0455	10	0.51188	T	0.08	-19.7282	12.4509	0.55677	0.0:0.9225:0.0:0.0775	.	328	Q7Z6M4	MTER2_HUMAN	Q	328;140;181	ENSP00000375840:E328Q;ENSP00000384998:E140Q;ENSP00000414989:E181Q	ENSP00000241527:E328Q	E	-	1	0	MTERFD2	241684250	0.000000	0.05858	0.048000	0.18961	0.265000	0.26407	0.594000	0.24014	2.611000	0.88343	0.460000	0.39030	GAG		0.483	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323798.4				6	55	0	0	0	0.008291	0	6	55		
ING5	84289	broad.mit.edu	37	2	242662468	242662468	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:242662468G>A	ENST00000313552.6	+	6	623	c.597G>A	c.(595-597)atG>atA	p.M199I	ING5_ENST00000406941.1_Missense_Mutation_p.M199I|AC114730.11_ENST00000435195.1_RNA	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	199					chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		ATGGGGAGATGATTGGCTGTG	0.602																																						uc002wcd.2		NaN																	0					0						c.(595-597)ATG>ATA		inhibitor of growth family, member 5							122.0	99.0	107.0					2																	242662468		2203	4296	6499	SO:0001583	missense	84289				DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr2:242662468G>A	AF189286	CCDS33425.1	2q37.3	2013-01-28			ENSG00000168395	ENSG00000168395		"""Zinc fingers, PHD-type"""	19421	protein-coding gene	gene with protein product		608525				12750254	Standard	NM_032329		Approved	FLJ23842, p28ING5	uc002wcd.3	Q8WYH8	OTTHUMG00000151501	ENST00000313552.6:c.597G>A	2.37:g.242662468G>A	ENSP00000322142:p.Met199Ile						p.M199I	NM_032329	NP_115705	Q8WYH8	ING5_HUMAN		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)	6	622	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	199			PHD-type.		A8K1P3|Q53NU6|Q57Z54|Q9BS30	Missense_Mutation	SNP	ENST00000313552.6	37	c.597G>A	CCDS33425.1	.	.	.	.	.	.	.	.	.	.	G	34	5.315122	0.95655	.	.	ENSG00000168395	ENST00000313552;ENST00000406941	D;D	0.85861	-2.04;-2.04	5.46	5.46	0.80206	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.96349	0.8809	H	0.99525	4.61	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.98262	1.0499	10	0.87932	D	0	-10.812	19.3126	0.94195	0.0:0.0:1.0:0.0	.	199	Q8WYH8	ING5_HUMAN	I	199	ENSP00000322142:M199I;ENSP00000385937:M199I	ENSP00000322142:M199I	M	+	3	0	ING5	242311141	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.715000	0.91416	2.563000	0.86464	0.643000	0.83706	ATG		0.602	ING5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322901.3		NM_032329		5	82	0	0	0	0.000602	0	5	82		
ZNF343	79175	broad.mit.edu	37	20	2463828	2463828	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr20:2463828G>A	ENST00000278772.4	-	6	2266	c.1779C>T	c.(1777-1779)atC>atT	p.I593I	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	593					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						TCTGGTGTCTGATGAGATTTG	0.507																																						uc002wge.1		NaN																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1777-1779)ATC>ATT		zinc finger protein 343							84.0	69.0	74.0					20																	2463828		2203	4300	6503	SO:0001819	synonymous_variant	79175				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:2463828G>A	AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"""Zinc fingers, C2H2-type"", ""-"""	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.1779C>T	20.37:g.2463828G>A						ZNF343_uc010gao.1_Silent_p.I593I|ZNF343_uc002wgd.1_Silent_p.I503I	p.I593I	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN			6	2267	-			593			C2H2-type 12.		Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Silent	SNP	ENST00000278772.4	37	c.1779C>T	CCDS13028.1																																																																																				0.507	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1		NM_024325		9	75	0	0	0	0.010729	0	9	75		
BPIFB6	128859	broad.mit.edu	37	20	31624294	31624294	+	Silent	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr20:31624294G>C	ENST00000349552.1	+	7	621	c.621G>C	c.(619-621)ctG>ctC	p.L207L		NM_174897.2	NP_777557.1	Q8NFQ5	BPIB6_HUMAN	BPI fold containing family B, member 6	207						extracellular region (GO:0005576)	lipid binding (GO:0008289)										AATATGTTCTGATGTCCGCAC	0.587																																						uc010zuc.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(619-621)CTG>CTC		bactericidal/permeability-increasing							142.0	128.0	133.0					20																	31624294		2203	4300	6503	SO:0001819	synonymous_variant	128859					extracellular region	lipid binding	g.chr20:31624294G>C	AF465767	CCDS13211.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000167104	ENSG00000167104		"""BPI fold containing"""	16504	protein-coding gene	gene with protein product		614110	"""bactericidal/permeability-increasing protein-like 3"""	BPIL3		12185532, 21787333	Standard	NM_174897		Approved	LPLUNC6	uc010zuc.2	Q8NFQ5	OTTHUMG00000032238	ENST00000349552.1:c.621G>C	20.37:g.31624294G>C						BPIL3_uc010zud.1_Silent_p.L146L	p.L207L	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN			7	621	+			207						Silent	SNP	ENST00000349552.1	37	c.621G>C	CCDS13211.1																																																																																				0.587	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078658.2		NM_174897		24	319	0	0	0	0.009535	0	24	319		
TRPC4AP	26133	broad.mit.edu	37	20	33593524	33593524	+	Missense_Mutation	SNP	C	C	T	rs143166417	byFrequency	TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr20:33593524C>T	ENST00000252015.2	-	16	1999	c.1910G>A	c.(1909-1911)cGa>cAa	p.R637Q	TRPC4AP_ENST00000539834.1_Missense_Mutation_p.R239Q|TRPC4AP_ENST00000451813.2_Missense_Mutation_p.R629Q|TRPC4AP_ENST00000432634.2_Missense_Mutation_p.R598Q			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	637					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GTTTTCAAATCGGTCCAGGGA	0.507																																						uc002xbk.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1909-1911)CGA>CAA		TRPC4-associated protein isoform a		C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	119.0	97.0	104.0		1910,1886	5.0	1.0	20	dbSNP_134	104	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	TRPC4AP	NM_015638.2,NM_199368.1	43,43	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging,probably-damaging	637/798,629/790	33593524	3,13003	2203	4300	6503	SO:0001583	missense	26133				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding	g.chr20:33593524C>T	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.1910G>A	20.37:g.33593524C>T	ENSP00000252015:p.Arg637Gln					TRPC4AP_uc002xbj.2_RNA|TRPC4AP_uc010zuq.1_Missense_Mutation_p.R228Q|TRPC4AP_uc002xbl.2_Missense_Mutation_p.R629Q|TRPC4AP_uc010zur.1_Missense_Mutation_p.R598Q	p.R637Q	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		16	1944	-			637					E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	ENST00000252015.2	37	c.1910G>A	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	C	35	5.434010	0.96150	2.27E-4	2.33E-4	ENSG00000100991	ENST00000252015;ENST00000451813;ENST00000539834;ENST00000432634;ENST00000541994	.	.	.	5.91	4.96	0.65561	.	0.062172	0.64402	D	0.000002	T	0.64713	0.2623	L	0.41236	1.265	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	P;D;D	0.63381	0.85;0.914;0.914	T	0.61392	-0.7072	9	0.38643	T	0.18	.	14.496	0.67688	0.0:0.9304:0.0:0.0696	.	598;629;637	B4E0Q1;E1P5Q0;Q8TEL6	.;.;TP4AP_HUMAN	Q	637;629;239;598;622	.	ENSP00000252015:R637Q	R	-	2	0	TRPC4AP	33057185	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.078000	0.71282	2.793000	0.96121	0.655000	0.94253	CGA		0.507	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2		NM_015638		13	108	0	0	0	0.006122	0	13	108		
PHF20	51230	broad.mit.edu	37	20	34457364	34457364	+	Silent	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr20:34457364G>T	ENST00000374012.3	+	7	942	c.813G>T	c.(811-813)gtG>gtT	p.V271V	PHF20_ENST00000439301.1_Nonsense_Mutation_p.G250*|PHF20_ENST00000481202.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	271					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					TGGTAGCTGTGGATTCAAACT	0.303																																						uc002xek.1		NaN																	0				ovary(1)	1						c.(811-813)GTG>GTT		PHD finger protein 20							86.0	84.0	84.0					20																	34457364		2203	4300	6503	SO:0001819	synonymous_variant	51230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	g.chr20:34457364G>T	AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.813G>T	20.37:g.34457364G>T						PHF20_uc002xei.1_Silent_p.V271V|PHF20_uc010gfo.1_Silent_p.V271V|PHF20_uc002xej.1_Silent_p.V155V|PHF20_uc002xel.1_Silent_p.V133V	p.V271V	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN			7	924	+	Breast(12;0.00631)|all_lung(11;0.0145)		271					A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Silent	SNP	ENST00000374012.3	37	c.813G>T	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	G	35	5.489648	0.96323	.	.	ENSG00000025293	ENST00000439301	.	.	.	4.93	2.76	0.32466	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	4.3128	0.10979	0.5056:0.0:0.4944:0.0	.	.	.	.	X	250	.	ENSP00000410373:G250X	G	+	1	0	PHF20	33920778	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.893000	0.39758	1.218000	0.43458	0.585000	0.79938	GGA		0.303	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2		NM_016436		14	68	1	0	3.27435e-08	0.00245	3.49725e-08	14	68		
CHD6	84181	broad.mit.edu	37	20	40033522	40033522	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr20:40033522C>A	ENST00000373233.3	-	37	8036	c.7859G>T	c.(7858-7860)gGa>gTa	p.G2620V	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2620					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTAAATGAGTCCAGGAGATAC	0.512																																						uc002xka.1		NaN																	0				ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(7858-7860)GGA>GTA		chromodomain helicase DNA binding protein 6							74.0	76.0	75.0					20																	40033522		2203	4300	6503	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40033522C>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.7859G>T	20.37:g.40033522C>A	ENSP00000362330:p.Gly2620Val					CHD6_uc002xjz.1_Missense_Mutation_p.G157V	p.G2620V	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			37	8037	-		Myeloproliferative disorder(115;0.00425)	2620					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.7859G>T	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323829	0.81580	.	.	ENSG00000124177	ENST00000373233	D	0.90676	-2.71	5.88	5.88	0.94601	.	0.000000	0.56097	D	0.000023	D	0.94584	0.8255	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.66084	0.941	D	0.94458	0.7673	10	0.87932	D	0	-17.3286	20.2266	0.98341	0.0:1.0:0.0:0.0	.	2620	Q8TD26	CHD6_HUMAN	V	2620	ENSP00000362330:G2620V	ENSP00000362330:G2620V	G	-	2	0	CHD6	39466936	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.783000	0.85696	2.769000	0.95229	0.655000	0.94253	GGA		0.512	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1				13	56	1	0	0.00010058	0.013537	0.000103538	13	56		
CHD6	84181	broad.mit.edu	37	20	40118569	40118569	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr20:40118569C>A	ENST00000373233.3	-	12	1706	c.1529G>T	c.(1528-1530)gGc>gTc	p.G510V	CHD6_ENST00000309279.7_Missense_Mutation_p.G510V	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	510	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GAGAAAAGGGCCGTGGATTCC	0.493																																						uc002xka.1		NaN																	0				ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(1528-1530)GGC>GTC		chromodomain helicase DNA binding protein 6							130.0	134.0	133.0					20																	40118569		2203	4300	6503	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40118569C>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.1529G>T	20.37:g.40118569C>A	ENSP00000362330:p.Gly510Val					CHD6_uc002xkd.2_Missense_Mutation_p.G488V	p.G510V	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			12	1707	-		Myeloproliferative disorder(115;0.00425)	510			Helicase ATP-binding.		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.1529G>T	CCDS13317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.7|22.7	4.329306|4.329306	0.81690|0.81690	.|.	.|.	ENSG00000124177|ENSG00000124177	ENST00000440697|ENST00000373233;ENST00000309279	.|D;D	.|0.93307	.|-3.2;-3.2	5.27|5.27	5.27|5.27	0.74061|0.74061	.|DEAD-like helicase (2);SNF2-related (1);	.|0.000000	.|0.56097	.|D	.|0.000022	D|D	0.97804|0.97804	0.9279|0.9279	H|H	0.94385|0.94385	3.53|3.53	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.98705|0.98705	1.0702|1.0702	5|10	.|0.87932	.|D	.|0	-17.7544|-17.7544	19.2491|19.2491	0.93914|0.93914	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|510	.|Q8TD26	.|CHD6_HUMAN	S|V	213|510	.|ENSP00000362330:G510V;ENSP00000308684:G510V	.|ENSP00000308684:G510V	A|G	-|-	1|2	0|0	CHD6|CHD6	39551983|39551983	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.642000|0.642000	0.38348|0.38348	7.747000|7.747000	0.85070|0.85070	2.608000|2.608000	0.88229|0.88229	0.650000|0.650000	0.86243|0.86243	GCC|GGC		0.493	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1				27	119	1	0	4.59853e-10	0.005443	5.00558e-10	27	119		
PCK1	5105	broad.mit.edu	37	20	56136669	56136669	+	Missense_Mutation	SNP	C	C	T	rs369101907		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr20:56136669C>T	ENST00000319441.4	+	2	366	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	PCK1_ENST00000535860.1_5'UTR|PCK1_ENST00000543666.1_5'UTR	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	68					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CATCCTCAGGCGGCTGAAGAA	0.617																																						uc002xyn.3		NaN																	0				skin(1)	1						c.(202-204)CGG>TGG		cytosolic phosphoenolpyruvate carboxykinase 1							69.0	68.0	68.0					20																	56136669		2203	4300	6503	SO:0001583	missense	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56136669C>T		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.202C>T	20.37:g.56136669C>T	ENSP00000319814:p.Arg68Trp					PCK1_uc010zzm.1_5'UTR	p.R68W	NM_002591	NP_002582	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		2	365	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		68					A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	ENST00000319441.4	37	c.202C>T	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024833	0.54683	.	.	ENSG00000124253	ENST00000319441	T	0.04706	3.57	5.33	1.66	0.24008	Phosphoenolpyruvate carboxykinase, N-terminal (2);	0.177956	0.64402	D	0.000020	T	0.11153	0.0272	M	0.72576	2.205	0.80722	D	1	P	0.52061	0.95	P	0.48982	0.597	T	0.01786	-1.1274	10	0.72032	D	0.01	-36.0072	12.8369	0.57777	0.5911:0.4089:0.0:0.0	.	68	P35558	PCKGC_HUMAN	W	68	ENSP00000319814:R68W	ENSP00000319814:R68W	R	+	1	2	PCK1	55570075	1.000000	0.71417	0.667000	0.29798	0.363000	0.29612	3.824000	0.55723	0.010000	0.14839	-0.397000	0.06425	CGG		0.617	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2				12	110	0	0	0	0.001855	0	12	110		
LAMA5	3911	broad.mit.edu	37	20	60904247	60904247	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr20:60904247C>T	ENST00000252999.3	-	33	4248	c.4182G>A	c.(4180-4182)ctG>ctA	p.L1394L		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1394	Domain IV 1 (domain IV B).				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			AGGATTTATCCAGGGGCTCCT	0.637																																						uc002ycq.2		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(4180-4182)CTG>CTA		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						58.0	67.0	64.0					20																	60904247		2203	4300	6503	SO:0001819	synonymous_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60904247C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.4182G>A	20.37:g.60904247C>T							p.L1394L	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		33	4249	-	Breast(26;1.57e-08)		1394			Domain IV 1 (domain IV B).		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	c.4182G>A	CCDS33502.1																																																																																				0.637	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2		NM_005560		21	120	0	0	0	0.014323	0	21	120		
ADAMTS5	11096	broad.mit.edu	37	21	28296403	28296403	+	Missense_Mutation	SNP	G	G	A	rs371494692		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr21:28296403G>A	ENST00000284987.5	-	8	2883	c.2762C>T	c.(2761-2763)gCg>gTg	p.A921V	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	921	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TTGCTTAAACGCAGAAGGCCT	0.483																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	uc002ymg.2		NaN																	0				upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(2761-2763)GCG>GTG		ADAM metallopeptidase with thrombospondin type 1		G	VAL/ALA	0,4406		0,0,2203	78.0	63.0	68.0		2762	6.1	1.0	21		68	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADAMTS5	NM_007038.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	921/931	28296403	1,13005	2203	4300	6503	SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28296403G>A	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.2762C>T	21.37:g.28296403G>A	ENSP00000284987:p.Ala921Val						p.A921V	NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN			8	3491	-			921			TSP type-1 2.		Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	c.2762C>T	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.724761	0.89298	0.0	1.16E-4	ENSG00000154736	ENST00000284987	T	0.61040	0.14	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.67562	0.2906	L	0.28400	0.85	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60276	-0.7295	10	0.25106	T	0.35	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	921	Q9UNA0	ATS5_HUMAN	V	921	ENSP00000284987:A921V	ENSP00000284987:A921V	A	-	2	0	ADAMTS5	27218274	1.000000	0.71417	0.952000	0.39060	0.957000	0.61999	9.198000	0.94994	2.884000	0.98904	0.655000	0.94253	GCG		0.483	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1				10	68	0	0	0	0.010729	0	10	68		
LTN1	26046	broad.mit.edu	37	21	30331900	30331900	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr21:30331900C>A	ENST00000361371.5	-	13	2552	c.2473G>T	c.(2473-2475)Gat>Tat	p.D825Y	LTN1_ENST00000389194.2_Missense_Mutation_p.D871Y			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	825					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TAGGCCACATCACAGATAAAA	0.343																																						uc002ymr.2		NaN																	0					0						c.(2611-2613)GAT>TAT		zinc finger protein 294							99.0	90.0	93.0					21																	30331900		2203	4300	6503	SO:0001583	missense	26046						ligase activity|zinc ion binding	g.chr21:30331900C>A	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.2473G>T	21.37:g.30331900C>A	ENSP00000354977:p.Asp825Tyr						p.D871Y	NM_015565	NP_056380	O94822	LTN1_HUMAN			13	2624	-			825					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37	c.2611G>T		.	.	.	.	.	.	.	.	.	.	C	21.8	4.199056	0.79015	.	.	ENSG00000198862	ENST00000389194;ENST00000361371	T;T	0.27402	1.67;1.69	5.55	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.44286	0.1286	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.45131	-0.9282	10	0.87932	D	0	.	14.5159	0.67818	0.0:0.9302:0.0:0.0698	.	825	O94822	LTN1_HUMAN	Y	871;825	ENSP00000373846:D871Y;ENSP00000354977:D825Y	ENSP00000354977:D825Y	D	-	1	0	LTN1	29253771	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.337000	0.65941	1.583000	0.49898	0.655000	0.94253	GAT		0.343	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1		NM_015565		18	102	1	0	3.62473e-10	0.012319	3.95504e-10	18	102		
KRTAP13-2	337959	broad.mit.edu	37	21	31744204	31744204	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr21:31744204G>T	ENST00000399889.2	-	1	353	c.328C>A	c.(328-330)Ctg>Atg	p.L110M		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	110						intermediate filament (GO:0005882)				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						CCATAGCCCAGGGAGCGGCAG	0.597																																						uc002ynz.3		NaN																	0					0						c.(328-330)CTG>ATG		keratin associated protein 13-2							48.0	49.0	49.0					21																	31744204		2203	4297	6500	SO:0001583	missense	337959					intermediate filament		g.chr21:31744204G>T	AP001708	CCDS13589.1	21q22.1	2011-02-10			ENSG00000182816	ENSG00000182816		"""Keratin associated proteins"""	18923	protein-coding gene	gene with protein product						12359730	Standard	NM_181621		Approved	KAP13-2	uc002ynz.4	Q52LG2	OTTHUMG00000057793	ENST00000399889.2:c.328C>A	21.37:g.31744204G>T	ENSP00000382777:p.Leu110Met						p.L110M	NM_181621	NP_853652	Q52LG2	KR132_HUMAN			1	354	-			110						Missense_Mutation	SNP	ENST00000399889.2	37	c.328C>A	CCDS13589.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.500178	0.26861	.	.	ENSG00000182816	ENST00000399889	T	0.03553	3.89	4.48	2.61	0.31194	.	1.048860	0.07664	N	0.934259	T	0.09024	0.0223	M	0.78285	2.405	0.09310	N	1	B	0.31581	0.329	B	0.40477	0.33	T	0.41161	-0.9524	10	0.31617	T	0.26	.	5.9364	0.19169	0.1023:0.0:0.709:0.1887	.	110	Q52LG2	KR132_HUMAN	M	110	ENSP00000382777:L110M	ENSP00000382777:L110M	L	-	1	2	KRTAP13-2	30666075	0.049000	0.20398	0.102000	0.21198	0.628000	0.37860	1.849000	0.39318	0.549000	0.28973	0.563000	0.77884	CTG		0.597	KRTAP13-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128245.1				7	60	1	0	1.12685e-05	0.004482	1.17866e-05	7	60		
BRWD1	54014	broad.mit.edu	37	21	40650683	40650683	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr21:40650683G>A	ENST00000333229.2	-	10	1316	c.989C>T	c.(988-990)tCt>tTt	p.S330F	BRWD1_ENST00000380800.3_Missense_Mutation_p.S330F|BRWD1_ENST00000342449.3_Missense_Mutation_p.S330F	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	330					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACTAAAAGAAGAACAAAGCAT	0.328																																					Melanoma(170;988 1986 4794 16843 39731)	uc002yxk.1		NaN																	0				skin(3)|ovary(1)	4						c.(988-990)TCT>TTT		bromodomain and WD repeat domain containing 1							81.0	87.0	85.0					21																	40650683		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40650683G>A	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.989C>T	21.37:g.40650683G>A	ENSP00000330753:p.Ser330Phe					BRWD1_uc002yxl.2_Missense_Mutation_p.S330F|BRWD1_uc010goe.1_RNA|BRWD1_uc010gof.1_5'UTR|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_RNA|BRWD1_uc010goi.1_Missense_Mutation_p.S50F	p.S330F	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN			10	1128	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	330			WD 4.		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.989C>T	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797400	0.70567	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.13538	2.58;2.58;2.58	5.1	5.1	0.69264	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.101796	0.43747	D	0.000528	T	0.40815	0.1132	M	0.83692	2.655	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.998;0.994;0.972	T	0.39292	-0.9621	10	0.87932	D	0	.	14.1764	0.65544	0.0:0.1497:0.8503:0.0	.	41;330;330	Q5R2U6;Q9NSI6-2;Q9NSI6	.;.;BRWD1_HUMAN	F	330	ENSP00000330753:S330F;ENSP00000344333:S330F;ENSP00000370178:S330F	ENSP00000330753:S330F	S	-	2	0	BRWD1	39572553	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.720000	0.68470	2.359000	0.80004	0.591000	0.81541	TCT		0.328	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3		NM_033656		6	110	0	0	0	0.004482	0	6	110		
DGCR8	54487	broad.mit.edu	37	22	20074169	20074169	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr22:20074169A>G	ENST00000351989.3	+	2	1112	c.683A>G	c.(682-684)gAc>gGc	p.D228G	MIR1306_ENST00000408439.1_RNA|DGCR8_ENST00000383024.2_Missense_Mutation_p.D228G|MIR3618_ENST00000580330.1_RNA|DGCR8_ENST00000407755.1_Missense_Mutation_p.D228G	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	228	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GTTCAGAGAGACAGAGTGGAT	0.478																																						uc002zri.2		NaN																	0					0						c.(682-684)GAC>GGC		DiGeorge syndrome critical region gene 8							114.0	125.0	121.0					22																	20074169		2203	4300	6503	SO:0001583	missense	54487				primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20074169A>G	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.683A>G	22.37:g.20074169A>G	ENSP00000263209:p.Asp228Gly					DGCR8_uc010grz.2_Missense_Mutation_p.D228G|DGCR8_uc002zrj.2_5'Flank	p.D228G	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN			2	1033	+	Colorectal(54;0.0993)		228			Necessary for nuclear localization and retention.|Necessary for interaction with NCL.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	c.683A>G	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	A	14.21	2.468297	0.43839	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.35421	1.33;1.31;1.31	5.32	4.29	0.51040	.	0.046423	0.85682	D	0.000000	T	0.29976	0.0750	L	0.44542	1.39	0.58432	D	0.999998	B;B	0.23058	0.0;0.079	B;B	0.18263	0.0;0.021	T	0.06320	-1.0833	10	0.44086	T	0.13	-13.949	10.8431	0.46728	0.9255:0.0:0.0745:0.0	.	228;228	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	G	228	ENSP00000263209:D228G;ENSP00000372488:D228G;ENSP00000384726:D228G	ENSP00000263209:D228G	D	+	2	0	DGCR8	18454169	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.766000	0.74970	1.051000	0.40369	0.402000	0.26972	GAC		0.478	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1				39	261	0	0	0	0.009718	0	39	261		
TOP3B	8940	broad.mit.edu	37	22	22314027	22314027	+	Missense_Mutation	SNP	C	C	T	rs138357708	byFrequency	TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr22:22314027C>T	ENST00000398793.2	-	15	2170	c.1736G>A	c.(1735-1737)cGc>cAc	p.R579H	TOP3B_ENST00000413067.2_3'UTR|TOP3B_ENST00000357179.5_Missense_Mutation_p.R579H	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	579					chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		CAGGACCTGGCGGTAGTCGGC	0.622													C|||	2	0.000399361	0.0008	0.0	5008	,	,		23049	0.001		0.0	False		,,,				2504	0.0					uc002zvs.2		NaN																	0				kidney(1)	1						c.(1735-1737)CGC>CAC		topoisomerase (DNA) III beta		C	HIS/ARG	0,4406		0,0,2203	151.0	131.0	138.0		1736	2.1	1.0	22	dbSNP_134	138	4,8596	3.7+/-12.6	0,4,4296	no	missense	TOP3B	NM_003935.3	29	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	benign	579/863	22314027	4,13002	2203	4300	6503	SO:0001583	missense	8940				DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding	g.chr22:22314027C>T	AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.1736G>A	22.37:g.22314027C>T	ENSP00000381773:p.Arg579His					TOP3B_uc010gtm.1_Missense_Mutation_p.R124H|TOP3B_uc002zvr.2_Missense_Mutation_p.R304H|TOP3B_uc010gtl.2_Missense_Mutation_p.R579H|TOP3B_uc002zvt.3_Missense_Mutation_p.R579H	p.R579H	NM_003935	NP_003926	O95985	TOP3B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	15	2171	-	Colorectal(54;0.105)		579					A0M8Q3|Q9BUP5	Missense_Mutation	SNP	ENST00000398793.2	37	c.1736G>A	CCDS13797.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	C|C	15.75|15.75	2.925597|2.925597	0.52759|0.52759	0.0|0.0	4.65E-4|4.65E-4	ENSG00000100038|ENSG00000100038	ENST00000457270|ENST00000357179;ENST00000398793	.|T;T	.|0.22539	.|1.95;1.95	5.78|5.78	2.11|2.11	0.27256|0.27256	.|DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, central region, subdomain 1 (1);	.|0.238919	.|0.45361	.|N	.|0.000361	T|T	0.09862|0.09862	0.0242|0.0242	N|N	0.11255|0.11255	0.115|0.115	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.06786	.|0.001;0.001;0.001	.|B;B;B	.|0.10450	.|0.005;0.0;0.0	T|T	0.12604|0.12604	-1.0541|-1.0541	5|10	.|0.37606	.|T	.|0.19	.|.	6.9671|6.9671	0.24629|0.24629	0.0:0.5254:0.0:0.4746|0.0:0.5254:0.0:0.4746	.|.	.|124;579;579	.|B3KU89;O95985;O95985-2	.|.;TOP3B_HUMAN;.	T|H	374|579	.|ENSP00000349705:R579H;ENSP00000381773:R579H	.|ENSP00000349705:R579H	A|R	-|-	1|2	0|0	TOP3B|TOP3B	20644027|20644027	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.934000|1.934000	0.40163|0.40163	0.777000|0.777000	0.33496|0.33496	0.563000|0.563000	0.77884|0.77884	GCC|CGC		0.622	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320251.1		NM_003935		20	211	0	0	0	0.010504	0	20	211		
GNAZ	2781	broad.mit.edu	37	22	23438386	23438386	+	Silent	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr22:23438386T>C	ENST00000248996.4	+	2	1170	c.504T>C	c.(502-504)taT>taC	p.Y168Y	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	168					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		CAGCTGACTATATCCCCACTG	0.607																																						uc002zwu.1		NaN																	0				kidney(1)|skin(1)	2						c.(502-504)TAT>TAC		guanine nucleotide binding protein, alpha z							107.0	87.0	94.0					22																	23438386		2203	4300	6503	SO:0001819	synonymous_variant	2781					endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	g.chr22:23438386T>C		CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.504T>C	22.37:g.23438386T>C						RTDR1_uc002zwt.2_Intron	p.Y168Y	NM_002073	NP_002064	P19086	GNAZ_HUMAN		READ - Rectum adenocarcinoma(21;0.166)	2	1041	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		168					B2R6C1|Q4QRJ6	Silent	SNP	ENST00000248996.4	37	c.504T>C	CCDS13804.1																																																																																				0.607	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1		NM_002073		11	90	0	0	0	0.010729	0	11	90		
RAB36	9609	broad.mit.edu	37	22	23500179	23500179	+	Splice_Site	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr22:23500179T>A	ENST00000263116.2	+	7	633	c.593T>A	c.(592-594)gTg>gAg	p.V198E	RAB36_ENST00000341989.4_Splice_Site_p.V176E	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	198					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		GGGTGTCTAGTGATCATCACG	0.622																																						uc002zwv.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(592-594)GTG>GAG		RAB36, member RAS oncogene family							175.0	164.0	168.0					22																	23500179		2203	4300	6503	SO:0001630	splice_region_variant	9609				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	g.chr22:23500179T>A	AB023061	CCDS13805.1	22q11.22	2008-06-11			ENSG00000100228	ENSG00000100228		"""RAB, member RAS oncogene"""	9775	protein-coding gene	gene with protein product		605662				9920784, 10591208	Standard	NM_004914		Approved		uc002zwv.1	O95755	OTTHUMG00000150601	ENST00000263116.2:c.593-1T>A	22.37:g.23500179T>A						RAB36_uc010gtw.1_Missense_Mutation_p.V176E	p.V198E	NM_004914	NP_004905	O95755	RAB36_HUMAN		READ - Rectum adenocarcinoma(21;0.155)	7	633	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		198					Q2M390|Q7Z4A9|Q9UHP5	Missense_Mutation	SNP	ENST00000263116.2	37	c.593T>A	CCDS13805.1	.	.	.	.	.	.	.	.	.	.	T	19.08	3.758218	0.69763	.	.	ENSG00000100228	ENST00000263116;ENST00000341989	D;D	0.81499	-1.5;-1.5	5.13	5.13	0.70059	Small GTP-binding protein domain (1);	0.069162	0.56097	D	0.000027	D	0.89839	0.6831	M	0.87758	2.905	0.58432	D	0.999997	D;D	0.76494	0.999;0.999	D;D	0.79108	0.961;0.992	D	0.90960	0.4812	9	.	.	.	.	11.6393	0.51222	0.0:0.0:0.0:1.0	.	176;198	O95755-2;O95755	.;RAB36_HUMAN	E	198;176	ENSP00000263116:V198E;ENSP00000343494:V176E	.	V	+	2	0	RAB36	21830179	0.046000	0.20272	1.000000	0.80357	0.931000	0.56810	-0.122000	0.10627	2.074000	0.62210	0.460000	0.39030	GTG		0.622	RAB36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319046.1		NM_004914	Missense_Mutation	28	249	0	0	0	0.004289	0	28	249		
EMID1	129080	broad.mit.edu	37	22	29622494	29622494	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr22:29622494G>A	ENST00000404820.3	+	5	546	c.419G>A	c.(418-420)aGc>aAc	p.S140N	EMID1_ENST00000334018.6_Missense_Mutation_p.S140N|EMID1_ENST00000484039.1_3'UTR|EMID1_ENST00000404755.3_Missense_Mutation_p.S140N			Q96A84	EMID1_HUMAN	EMI domain containing 1	138						collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						CTCAACTGCAGCAAAGTGTCA	0.632																																						uc003aen.2		NaN																	0					0						c.(412-414)AGC>AAC		EMI domain containing 1							59.0	48.0	51.0					22																	29622494		2203	4300	6503	SO:0001583	missense	129080					collagen		g.chr22:29622494G>A	AJ416090	CCDS33630.1	22q12.2	2009-08-04			ENSG00000186998	ENSG00000186998		"""EMI domain containing"""	18036	protein-coding gene	gene with protein product	"""emilin and multimerin-domain containing protein 1"", ""putative emu1"""	608926				12221002	Standard	NM_001267895		Approved	EMU1, hEmu1, EMI5	uc003aem.4	Q96A84	OTTHUMG00000151013	ENST00000404820.3:c.419G>A	22.37:g.29622494G>A	ENSP00000384452:p.Ser140Asn					EMID1_uc003aem.2_Missense_Mutation_p.S140N|EMID1_uc003aeo.2_Missense_Mutation_p.S140N|EMID1_uc003aep.2_Missense_Mutation_p.S140N	p.S138N	NM_133455	NP_597712	Q96A84	EMID1_HUMAN			5	488	+			138					B0QYK6|Q6ICG1|Q86SS7	Missense_Mutation	SNP	ENST00000404820.3	37	c.413G>A		.	.	.	.	.	.	.	.	.	.	G	19.07	3.755289	0.69648	.	.	ENSG00000186998	ENST00000334018;ENST00000429226;ENST00000404755;ENST00000404820;ENST00000430127	D;T;D;D;T	0.89939	-2.59;0.82;-2.43;-2.57;0.66	5.09	4.07	0.47477	.	0.354834	0.24463	N	0.038313	D	0.89815	0.6824	M	0.78637	2.42	0.35653	D	0.811942	P;P;P;P	0.45827	0.791;0.791;0.764;0.867	B;B;P;P	0.46825	0.419;0.272;0.501;0.528	D	0.92155	0.5731	10	0.72032	D	0.01	-13.7837	9.5802	0.39484	0.0974:0.0:0.9026:0.0	.	140;140;138;140	B0QYK4;B0QYK5;Q96A84;Q96A84-3	.;.;EMID1_HUMAN;.	N	140;140;140;140;112	ENSP00000335481:S140N;ENSP00000403816:S140N;ENSP00000385414:S140N;ENSP00000384452:S140N;ENSP00000399760:S112N	ENSP00000335481:S140N	S	+	2	0	EMID1	27952494	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.180000	0.65048	1.144000	0.42321	0.555000	0.69702	AGC		0.632	EMID1-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321075.1		NM_133455		15	55	0	0	0	0.006122	0	15	55		
EP300	2033	broad.mit.edu	37	22	41553402	41553402	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr22:41553402G>A	ENST00000263253.7	+	18	4710	c.3491G>A	c.(3490-3492)tGt>tAt	p.C1164Y		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1164					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGATACTGTTGTGGCAGAAAG	0.393			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3		NaN		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		0				haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(3490-3492)TGT>TAT		E1A binding protein p300							96.0	95.0	95.0					22																	41553402		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41553402G>A	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.3491G>A	22.37:g.41553402G>A	ENSP00000263253:p.Cys1164Tyr						p.C1164Y	NM_001429	NP_001420	Q09472	EP300_HUMAN			18	3886	+			1164					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.3491G>A	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.929183	0.73327	.	.	ENSG00000100393	ENST00000263253	D	0.87103	-2.21	5.7	5.7	0.88788	Bromodomain (1);Domain of unknown function DUF902, CREBbp (1);	0.000000	0.53938	D	0.000057	D	0.94493	0.8227	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94712	0.7893	10	0.87932	D	0	-4.385	19.8463	0.96708	0.0:0.0:1.0:0.0	.	1164	Q09472	EP300_HUMAN	Y	1164	ENSP00000263253:C1164Y	ENSP00000263253:C1164Y	C	+	2	0	EP300	39883348	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.688000	0.91661	0.655000	0.94253	TGT		0.393	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1		NM_001429		30	121	0	0	0	0.004878	0	30	121		
ACO2	50	broad.mit.edu	37	22	41918881	41918881	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr22:41918881T>A	ENST00000216254.4	+	10	1208	c.1186T>A	c.(1186-1188)Tca>Aca	p.S396T	ACO2_ENST00000396512.3_Missense_Mutation_p.S421T	NM_001098.2	NP_001089.1	Q99798	ACON_HUMAN	aconitase 2, mitochondrial	396					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|citrate metabolic process (GO:0006101)|generation of precursor metabolites and energy (GO:0006091)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron ion binding (GO:0005506)			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						TATGGGGCGCTCAGCAGCTGT	0.572																																						uc003bac.2		NaN																	0				breast(2)|ovary(1)|lung(1)	4						c.(1186-1188)TCA>ACA		aconitase 2, mitochondrial precursor							91.0	80.0	83.0					22																	41918881		2203	4300	6503	SO:0001583	missense	50				citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity	g.chr22:41918881T>A	AH006514	CCDS14017.1	22q13.2	2013-05-21			ENSG00000100412	ENSG00000100412	4.2.1.3		118	protein-coding gene	gene with protein product	"""aconitate hydratase, mitochondrial"""	100850				10591208	Standard	NM_001098		Approved	ACONM	uc003bac.3	Q99798	OTTHUMG00000030544	ENST00000216254.4:c.1186T>A	22.37:g.41918881T>A	ENSP00000216254:p.Ser396Thr					ACO2_uc003bad.2_Missense_Mutation_p.S421T	p.S396T	NM_001098	NP_001089	Q99798	ACON_HUMAN			10	1208	+			396					O75809|Q5JZ41|Q6FHX0|Q8TAQ6	Missense_Mutation	SNP	ENST00000216254.4	37	c.1186T>A	CCDS14017.1	.	.	.	.	.	.	.	.	.	.	T	18.69	3.678159	0.68042	.	.	ENSG00000100412	ENST00000541439;ENST00000544234;ENST00000216254;ENST00000396512	T;T	0.76448	-1.02;-1.02	5.92	5.92	0.95590	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.058085	0.64402	D	0.000002	T	0.76535	0.4001	L	0.55213	1.73	0.46011	D	0.998811	B;B	0.22541	0.071;0.036	B;B	0.32980	0.156;0.062	T	0.75127	-0.3427	10	0.87932	D	0	.	12.2532	0.54610	0.0:0.0:0.1415:0.8584	.	421;396	A2A274;Q99798	.;ACON_HUMAN	T	117;377;396;421	ENSP00000216254:S396T;ENSP00000379769:S421T	ENSP00000216254:S396T	S	+	1	0	ACO2	40248827	1.000000	0.71417	0.967000	0.41034	0.990000	0.78478	4.366000	0.59492	2.277000	0.76020	0.528000	0.53228	TCA		0.572	ACO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259151.1		NM_001098		19	78	0	0	0	0.008871	0	19	78		
TTLL1	25809	broad.mit.edu	37	22	43459894	43459894	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr22:43459894C>T	ENST00000266254.7	-	7	912	c.672G>A	c.(670-672)gtG>gtA	p.V224V	TTLL1_ENST00000331018.7_Silent_p.V224V	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	224	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		GGGTGTATTTCACTGTGCAGA	0.458																																						uc003bdi.2		NaN																	0				skin(1)	1						c.(670-672)GTG>GTA		tubulin tyrosine ligase-like family, member 1							218.0	201.0	207.0					22																	43459894		2203	4300	6503	SO:0001819	synonymous_variant	25809				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity	g.chr22:43459894C>T	AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"""Tubulin tyrosine ligase-like family"""	1312	protein-coding gene	gene with protein product		608955	"""tubulin tyrosine ligase-like 1"""	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.672G>A	22.37:g.43459894C>T						TTLL1_uc010gzh.2_Silent_p.V224V|TTLL1_uc003bdj.2_Silent_p.V110V|TTLL1_uc003bdh.2_Silent_p.V186V	p.V224V	NM_012263	NP_036395	O95922	TTLL1_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.00461)	7	913	-		Ovarian(80;0.0694)	224			TTL.		B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Silent	SNP	ENST00000266254.7	37	c.672G>A	CCDS14043.1																																																																																				0.458	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1		NM_012263		6	159	0	0	0	0.004482	0	6	159		
SMC1B	27127	broad.mit.edu	37	22	45802460	45802460	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr22:45802460C>T	ENST00000357450.4	-	4	495	c.496G>A	c.(496-498)Gga>Aga	p.G166R	SMC1B_ENST00000404354.3_Missense_Mutation_p.G166R	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	166					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCATATTCTCCTATAAGCTCT	0.363																																						uc003bgc.2		NaN																	0				ovary(2)	2						c.(496-498)GGA>AGA		SMC1 structural maintenance of chromosomes							79.0	72.0	74.0					22																	45802460		1809	4071	5880	SO:0001583	missense	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45802460C>T	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.496G>A	22.37:g.45802460C>T	ENSP00000350036:p.Gly166Arg					SMC1B_uc003bgd.2_Missense_Mutation_p.G166R|SMC1B_uc003bge.1_5'UTR	p.G166R	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	4	548	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	166			Potential.		A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	c.496G>A	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	C	9.383	1.073544	0.20147	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.78481	-1.18;3.2	5.74	2.5	0.30297	.	0.551174	0.17299	N	0.179344	T	0.56761	0.2007	N	0.08118	0	0.27868	N	0.940131	B;B	0.06786	0.001;0.0	B;B	0.12837	0.008;0.003	T	0.41360	-0.9513	10	0.20519	T	0.43	.	11.3563	0.49617	0.0:0.8015:0.0:0.1985	.	166;166	Q8NDV3-2;Q8NDV3-3	.;.	R	166	ENSP00000350036:G166R;ENSP00000385902:G166R	ENSP00000350036:G166R	G	-	1	0	SMC1B	44181124	0.003000	0.15002	0.946000	0.38457	0.477000	0.33069	0.892000	0.28322	0.359000	0.24239	-0.258000	0.10820	GGA		0.363	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2		NM_148674		5	57	0	0	0	0.000602	0	5	57		
CHL1	10752	broad.mit.edu	37	3	403383	403383	+	Splice_Site	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:403383T>A	ENST00000256509.2	+	13	1950	c.1308T>A	c.(1306-1308)gaT>gaA	p.D436E	CHL1_ENST00000397491.2_Splice_Site_p.D420E|CHL1-AS1_ENST00000417612.1_RNA|CHL1-AS1_ENST00000608098.1_RNA	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTCAAATAGATGTCCGTCCAT	0.353																																						uc003bou.2		NaN																	0				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12						c.(1258-1260)GAT>GAA		cell adhesion molecule with homology to L1CAM							174.0	175.0	175.0					3																	403383		2203	4300	6503	SO:0001630	splice_region_variant	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:403383T>A	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.1307-1T>A	3.37:g.403383T>A						CHL1_uc003bot.2_Missense_Mutation_p.D436E|CHL1_uc003bow.1_Missense_Mutation_p.D420E|CHL1_uc011asi.1_Missense_Mutation_p.D436E	p.D420E	NM_006614	NP_006605	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	12	1531	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	420			Extracellular (Potential).		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.1260T>A	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	T	9.949	1.219741	0.22373	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.59083	0.29;0.29	5.24	4.09	0.47781	Immunoglobulin-like fold (1);	0.060462	0.64402	D	0.000002	T	0.36166	0.0957	N	0.11131	0.1	0.80722	D	1	B;B;B	0.27656	0.019;0.019;0.184	B;B;B	0.33254	0.014;0.008;0.16	T	0.12889	-1.0530	10	0.33141	T	0.24	.	6.264	0.20915	0.0:0.0832:0.1605:0.7564	.	420;420;436	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	E	436;420	ENSP00000256509:D436E;ENSP00000380628:D420E	ENSP00000256509:D436E	D	+	3	2	CHL1	378383	1.000000	0.71417	0.989000	0.46669	0.954000	0.61252	1.569000	0.36428	0.943000	0.37553	0.460000	0.39030	GAT		0.353	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2		NM_006614	Missense_Mutation	17	161	0	0	0	0.006122	0	17	161		
FANCD2	2177	broad.mit.edu	37	3	10133873	10133873	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:10133873A>C	ENST00000419585.1	+	38	3947	c.3786A>C	c.(3784-3786)gaA>gaC	p.E1262D	FANCD2_ENST00000383806.1_Missense_Mutation_p.K1231T|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000287647.3_Missense_Mutation_p.E1262D|FANCD2_ENST00000383807.1_Missense_Mutation_p.E1262D|FANCD2OS_ENST00000436517.1_Intron			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1262					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AGATTCATGAAGAGAAACTCC	0.418			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc003buw.2		NaN	yes	Rec		Fanconi anaemia D2	3	3p26	2177	D|Mis|N|F	"""Fanconi anemia, complementation group D2"""			L		AML|leukemia			0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(3784-3786)GAA>GAC	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia complementation group D2 isoform							200.0	203.0	202.0					3																	10133873		2203	4300	6503	SO:0001583	missense	2177	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding	g.chr3:10133873A>C	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.3786A>C	3.37:g.10133873A>C	ENSP00000398754:p.Glu1262Asp					FANCD2_uc003bux.1_Missense_Mutation_p.E1262D|FANCD2_uc003buy.1_Missense_Mutation_p.E1262D|FANCD2_uc010hcw.1_RNA|C3orf24_uc003buz.2_Intron	p.E1262D	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	38	3864	+			1262					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.3786A>C	CCDS33696.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.92|15.92	2.974743|2.974743	0.53720|0.53720	.|.	.|.	ENSG00000144554|ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000419585|ENST00000383806	T;T;T|T	0.50001|0.38240	0.76;0.76;0.76|1.15	5.57|5.57	0.203|0.203	0.15195|0.15195	.|.	0.336493|.	0.36932|.	N|.	0.002338|.	T|T	0.40886|0.40886	0.1135|0.1135	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	D;D|.	0.53312|.	0.959;0.959|.	P;P|.	0.46026|.	0.501;0.501|.	T|T	0.34700|0.34700	-0.9818|-0.9818	10|7	0.13853|0.87932	T|D	0.58|0	.|.	4.8564|4.8564	0.13561|0.13561	0.5356:0.0:0.324:0.1404|0.5356:0.0:0.324:0.1404	.|.	1262;1262|.	Q9BXW9-2;Q9BXW9|.	.;FACD2_HUMAN|.	D|T	1262|1231	ENSP00000287647:E1262D;ENSP00000373318:E1262D;ENSP00000398754:E1262D|ENSP00000373317:K1231T	ENSP00000287647:E1262D|ENSP00000373317:K1231T	E|K	+|+	3|2	2|0	FANCD2|FANCD2	10108873|10108873	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.989000|0.989000	0.77384|0.77384	0.876000|0.876000	0.28092|0.28092	0.115000|0.115000	0.18071|0.18071	0.454000|0.454000	0.30748|0.30748	GAA|AAG		0.418	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1				64	303	0	0	0	0.01441	0	64	303		
SGOL1	151648	broad.mit.edu	37	3	20215950	20215950	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:20215950C>G	ENST00000263753.4	-	6	1212	c.1073G>C	c.(1072-1074)aGa>aCa	p.R358T	SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000412997.1_Missense_Mutation_p.R358T|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000412868.1_Missense_Mutation_p.R358T|SGOL1_ENST00000421451.1_Missense_Mutation_p.R358T|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000452020.1_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000429446.3_Intron	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	358					attachment of spindle microtubules to kinetochore (GO:0008608)|centriole-centriole cohesion (GO:0010457)|chromosome segregation (GO:0007059)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|chromosome, centromeric region (GO:0000775)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase binding (GO:0019900)			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						GTTTTCTTCTCTATTAGAGTC	0.398																																						uc003cbs.2		NaN																	0					0						c.(1072-1074)AGA>ACA		shugoshin-like 1 isoform A2							142.0	129.0	134.0					3																	20215950		2203	4300	6503	SO:0001583	missense	151648				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding	g.chr3:20215950C>G	BC001339	CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1	3p24.3	2005-07-27			ENSG00000129810	ENSG00000129810			25088	protein-coding gene	gene with protein product		609168				12747765	Standard	NM_001199251		Approved	NY-BR-85	uc003cbu.3	Q5FBB7	OTTHUMG00000130479	ENST00000263753.4:c.1073G>C	3.37:g.20215950C>G	ENSP00000263753:p.Arg358Thr					SGOL1_uc003cbr.2_Intron|SGOL1_uc010hfa.2_Intron|SGOL1_uc003cbt.2_Intron|SGOL1_uc003cbu.2_Missense_Mutation_p.R358T|SGOL1_uc003cbv.2_Intron|SGOL1_uc003cbw.2_Intron|SGOL1_uc003cbx.2_Intron|SGOL1_uc003cby.2_Intron|SGOL1_uc003cbz.2_Missense_Mutation_p.R358T|SGOL1_uc003cca.2_Missense_Mutation_p.R358T|SGOL1_uc003ccb.2_Intron|SGOL1_uc003ccc.2_Intron	p.R358T	NM_001012410	NP_001012410	Q5FBB7	SGOL1_HUMAN			6	1260	-			358					Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Missense_Mutation	SNP	ENST00000263753.4	37	c.1073G>C	CCDS33716.1	.	.	.	.	.	.	.	.	.	.	C	3.154	-0.173522	0.06421	.	.	ENSG00000129810	ENST00000263753;ENST00000421451;ENST00000412997;ENST00000412868	T;T;T;T	0.31769	1.48;1.48;1.5;1.5	5.76	-0.651	0.11454	.	0.794180	0.11812	N	0.527060	T	0.16342	0.0393	L	0.38838	1.175	0.20196	N	0.999927	B;B	0.21381	0.055;0.055	B;B	0.15052	0.012;0.012	T	0.25398	-1.0133	10	0.19590	T	0.45	.	0.7717	0.01025	0.2512:0.323:0.1118:0.314	.	358;358	B5BUA4;Q5FBB7	.;SGOL1_HUMAN	T	358	ENSP00000263753:R358T;ENSP00000414129:R358T;ENSP00000410458:R358T;ENSP00000406880:R358T	ENSP00000263753:R358T	R	-	2	0	SGOL1	20190954	0.000000	0.05858	0.024000	0.17045	0.228000	0.25075	-0.798000	0.04565	0.030000	0.15379	0.561000	0.74099	AGA		0.398	SGOL1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340498.1		NM_138484		13	109	0	0	0	0.001855	0	13	109		
ACAA1	30	broad.mit.edu	37	3	38180222	38180222	+	5'Flank	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:38180222G>A	ENST00000333167.8	-	0	0				ACAA1_ENST00000301810.7_5'Flank|MYD88_ENST00000424893.1_Missense_Mutation_p.A24T|ACAA1_ENST00000544624.1_5'Flank|ACAA1_ENST00000450296.1_5'Flank|MYD88_ENST00000443433.2_Missense_Mutation_p.A24T|ACAA1_ENST00000444607.2_5'Flank|MYD88_ENST00000495303.1_Missense_Mutation_p.A24T|MYD88_ENST00000396334.3_Missense_Mutation_p.A24T|MYD88_ENST00000417037.2_Missense_Mutation_p.A24T	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1						alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		CGCGGGGTCTGCGGCCCCGGT	0.687																																						uc003chx.2		NaN								Mis 							ABC-DLBCL		0				haematopoietic_and_lymphoid_tissue(93)|breast(1)	94						c.(70-72)GCG>ACG		myeloid differentiation primary response gene							15.0	18.0	17.0					3																	38180222		2183	4273	6456	SO:0001631	upstream_gene_variant	4615				3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	death receptor binding|TIR domain binding|transmembrane receptor activity	g.chr3:38180222G>A	X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"""peroxisomal 3-oxoacyl-Coenzyme A thiolase"""	604054	"""acetyl-Coenzyme A acyltransferase 1"""				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087		3.37:g.38180222G>A	Exception_encountered					ACAA1_uc003cht.2_5'Flank|ACAA1_uc003chu.2_5'Flank|ACAA1_uc010hgy.2_5'Flank|ACAA1_uc010hgz.2_5'Flank|ACAA1_uc003chv.2_5'Flank|MYD88_uc011ayh.1_Missense_Mutation_p.A24T|MYD88_uc011ayi.1_Missense_Mutation_p.A24T|MYD88_uc011ayj.1_Missense_Mutation_p.A24T|MYD88_uc011ayk.1_Missense_Mutation_p.A24T|MYD88_uc011ayl.1_Missense_Mutation_p.A24T	p.A24T	NM_002468	NP_002459	Q99836	MYD88_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	1	254	+			11					G5E935|Q96CA6	Missense_Mutation	SNP	ENST00000333167.8	37	c.70G>A	CCDS2673.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538068	0.45176	.	.	ENSG00000172936	ENST00000417037;ENST00000396334;ENST00000424893;ENST00000495303;ENST00000443433;ENST00000421571;ENST00000421516;ENST00000415158	T;T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29;0.29	3.94	2.1	0.27182	DEATH-like (1);	1.544760	0.03737	N	0.254439	T	0.52901	0.1763	L	0.56769	1.78	0.09310	N	1	B;B;B;B;B;B	0.12630	0.005;0.004;0.002;0.003;0.0;0.006	B;B;B;B;B;B	0.09377	0.003;0.004;0.003;0.001;0.001;0.004	T	0.22452	-1.0216	10	0.29301	T	0.29	-13.9237	5.62	0.17451	0.2596:0.0:0.7404:0.0	.	11;24;24;11;11;11	Q99836-2;B4DQ60;B4DQ72;Q99836;B4DU08;B4E3D6	.;.;.;MYD88_HUMAN;.;.	T	24;24;24;24;24;11;23;11	ENSP00000401399:A24T;ENSP00000379625:A24T;ENSP00000389979:A24T;ENSP00000417848:A24T;ENSP00000390565:A24T;ENSP00000391753:A23T	ENSP00000379625:A24T	A	+	1	0	MYD88	38155226	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.802000	0.27069	0.422000	0.26005	0.563000	0.77884	GCG		0.687	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1		NM_001607		9	43	0	0	0	0.006214	0	9	43		
XIRP1	165904	broad.mit.edu	37	3	39229444	39229444	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:39229444G>C	ENST00000340369.3	-	2	1721	c.1493C>G	c.(1492-1494)tCt>tGt	p.S498C	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.S498C	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	498					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TCTGCTAACAGAGGTCAGGGC	0.592																																						uc003cjk.1		NaN																	0				ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8						c.(1492-1494)TCT>TGT		xin actin-binding repeat containing 1							95.0	92.0	93.0					3																	39229444		2203	4300	6503	SO:0001583	missense	165904						actin binding	g.chr3:39229444G>C	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.1493C>G	3.37:g.39229444G>C	ENSP00000343140:p.Ser498Cys					XIRP1_uc003cji.2_Missense_Mutation_p.S498C|XIRP1_uc003cjj.2_Intron	p.S498C	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	1714	-			498					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.1493C>G	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944777	0.73672	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.06849	3.25;3.62	5.17	5.17	0.71159	.	0.254215	0.39407	N	0.001373	T	0.29976	0.0750	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.97;0.994	T	0.01349	-1.1378	10	0.87932	D	0	.	16.5499	0.84470	0.0:0.0:1.0:0.0	.	498;498	Q702N8;Q702N8-2	XIRP1_HUMAN;.	C	498	ENSP00000379550:S498C;ENSP00000343140:S498C	ENSP00000343140:S498C	S	-	2	0	XIRP1	39204448	1.000000	0.71417	0.994000	0.49952	0.954000	0.61252	9.476000	0.97823	2.583000	0.87209	0.655000	0.94253	TCT		0.592	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1		XM_093522		8	167	0	0	0	0.004482	0	8	167		
ZKSCAN7	55888	broad.mit.edu	37	3	44612226	44612226	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:44612226C>T	ENST00000273320.3	+	6	2053	c.1624C>T	c.(1624-1626)Cag>Tag	p.Q542*	ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.5_ENST00000419137.1_Intron|ZKSCAN7_ENST00000426540.1_Nonsense_Mutation_p.Q542*|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000431636.1_Intron	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	542					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CATTGACCATCAGAGAATCCA	0.453																																						uc010hin.2		NaN																	0				ovary(2)	2						c.(1624-1626)CAG>TAG		zinc finger protein 167 isoform 1							114.0	116.0	115.0					3																	44612226		2203	4300	6503	SO:0001587	stop_gained	55888				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44612226C>T	L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12955	protein-coding gene	gene with protein product			"""zinc finger protein 64"", ""zinc finger protein 448"", ""zinc finger protein 167"""	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.1624C>T	3.37:g.44612226C>T	ENSP00000273320:p.Gln542*					ZNF167_uc003cni.2_Intron|ZNF167_uc010hio.2_Intron|ZNF167_uc003cnj.2_Nonsense_Mutation_p.Q542*|ZNF167_uc003cnk.2_Intron	p.Q542*	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)	6	2012	+			542			C2H2-type 6.		A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Nonsense_Mutation	SNP	ENST00000273320.3	37	c.1624C>T	CCDS2715.1	.	.	.	.	.	.	.	.	.	.	.	39	7.519746	0.98335	.	.	ENSG00000196345	ENST00000426540;ENST00000273320	.	.	.	4.36	4.36	0.52297	.	0.366044	0.16384	N	0.216799	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-10.4507	6.1052	0.20069	0.0:0.7068:0.193:0.1002	.	.	.	.	X	542	.	ENSP00000273320:Q542X	Q	+	1	0	ZNF167	44587230	0.914000	0.31030	1.000000	0.80357	0.995000	0.86356	1.778000	0.38614	2.271000	0.75665	0.655000	0.94253	CAG		0.453	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4		NM_018651		15	160	0	0	0	0.006122	0	15	160		
ZNF35	7584	broad.mit.edu	37	3	44700861	44700861	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:44700861T>C	ENST00000396056.2	+	4	1241	c.1006T>C	c.(1006-1008)Tgt>Cgt	p.C336R	ZNF35_ENST00000542250.1_Missense_Mutation_p.C176R|ZNF35_ENST00000296092.3_3'UTR|RP11-944L7.4_ENST00000457331.1_RNA	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	336					cellular response to retinoic acid (GO:0071300)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cell (GO:0005623)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		ATGCTATGAATGTAATGAATG	0.428																																						uc003cnq.2		NaN																	0					0						c.(1006-1008)TGT>CGT		zinc finger protein 35							52.0	55.0	54.0					3																	44700861		2203	4300	6503	SO:0001583	missense	7584				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44700861T>C	X07289	CCDS2718.2	3p21.32	2013-01-08	2006-05-11		ENSG00000169981	ENSG00000169981		"""Zinc fingers, C2H2-type"""	13099	protein-coding gene	gene with protein product		194533	"""zinc finger protein 35 (clone HF.10)"""			2108922, 1572646	Standard	NM_003420		Approved	HF.10, HF10, Zfp105	uc003cnq.3	P13682	OTTHUMG00000133091	ENST00000396056.2:c.1006T>C	3.37:g.44700861T>C	ENSP00000379368:p.Cys336Arg					ZNF35_uc003cnr.2_Missense_Mutation_p.C176R	p.C336R	NM_003420	NP_003411	P13682	ZNF35_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	4	1227	+		Ovarian(412;0.0228)	336			C2H2-type 5.		B2RBU6|Q53Y54|Q96D01	Missense_Mutation	SNP	ENST00000396056.2	37	c.1006T>C	CCDS2718.2	.	.	.	.	.	.	.	.	.	.	T	19.68	3.872253	0.72180	.	.	ENSG00000169981	ENST00000396056;ENST00000542250	D;D	0.99974	-10.2;-10.2	5.1	5.1	0.69264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000111	D	0.99981	0.9994	H	0.97465	4.01	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97947	1.0329	10	0.87932	D	0	-13.0394	14.3108	0.66415	0.0:0.0:0.0:1.0	.	336	P13682	ZNF35_HUMAN	R	336;176	ENSP00000379368:C336R;ENSP00000443714:C176R	ENSP00000379368:C336R	C	+	1	0	ZNF35	44675865	1.000000	0.71417	0.934000	0.37439	0.981000	0.71138	5.841000	0.69409	2.279000	0.76181	0.533000	0.62120	TGT		0.428	ZNF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256749.4		NM_003420		6	60	0	0	0	0.001168	0	6	60		
SCAP	22937	broad.mit.edu	37	3	47458631	47458631	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:47458631G>A	ENST00000265565.5	-	18	3449	c.3037C>T	c.(3037-3039)Ctg>Ttg	p.L1013L	SCAP_ENST00000441517.2_Silent_p.L757L|SCAP_ENST00000545718.1_Silent_p.L620L	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1013	Interaction with SREBF2. {ECO:0000250}.				aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AAGAACACCAGAGCGGTAATG	0.587																																					Pancreas(149;978 1908 29304 37806 46700)	uc003crh.1		NaN																	0				ovary(1)	1						c.(3037-3039)CTG>TTG		SREBF chaperone protein							100.0	79.0	86.0					3																	47458631		2203	4300	6503	SO:0001819	synonymous_variant	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47458631G>A	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.3037C>T	3.37:g.47458631G>A						SCAP_uc011baz.1_Silent_p.L757L|SCAP_uc003crg.2_Silent_p.L620L	p.L1013L	NM_012235	NP_036367	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	18	3292	-			1013			Interaction with SREBF2 (By similarity).|Cytoplasmic (By similarity).|WD 3.		Q8N2E0|Q8WUA1	Silent	SNP	ENST00000265565.5	37	c.3037C>T	CCDS2755.2																																																																																				0.587	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2		NM_012235		13	60	0	0	0	0.00245	0	13	60		
COL7A1	1294	broad.mit.edu	37	3	48605567	48605567	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:48605567C>T	ENST00000328333.8	-	105	7938	c.7831G>A	c.(7831-7833)Gga>Aga	p.G2611R	COL7A1_ENST00000454817.1_Missense_Mutation_p.G2579R	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2611	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCTTTTTCTCCTCGGATACCA	0.532																																						uc003ctz.2		NaN																	0				ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11						c.(7831-7833)GGA>AGA		alpha 1 type VII collagen precursor							83.0	78.0	80.0					3																	48605567		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48605567C>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.7831G>A	3.37:g.48605567C>T	ENSP00000332371:p.Gly2611Arg						p.G2611R	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	105	7832	-			2611			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.7831G>A	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.538749	0.27475	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.99637	-6.29;-5.77	5.29	5.29	0.74685	.	0.000000	0.44483	D	0.000453	D	0.99862	0.9935	H	0.99777	4.77	0.49130	D	0.999754	D	0.89917	1.0	D	0.81914	0.995	D	0.96246	0.9179	10	0.87932	D	0	.	17.1265	0.86715	0.0:1.0:0.0:0.0	.	2611	Q02388	CO7A1_HUMAN	R	2611;2579	ENSP00000332371:G2611R;ENSP00000412569:G2579R	ENSP00000332371:G2611R	G	-	1	0	COL7A1	48580571	1.000000	0.71417	1.000000	0.80357	0.016000	0.09150	4.941000	0.63540	2.480000	0.83734	0.563000	0.77884	GGA		0.532	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1		NM_000094		16	83	0	0	0	0.010504	0	16	83		
CELSR3	1951	broad.mit.edu	37	3	48687965	48687965	+	Silent	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:48687965G>T	ENST00000164024.4	-	16	6700	c.6420C>A	c.(6418-6420)ccC>ccA	p.P2140P	CELSR3_ENST00000544264.1_Silent_p.P2140P	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2140					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACTTTGTCTGGGGCCACCACA	0.617																																						uc003cul.2		NaN																	0				ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(6418-6420)CCC>CCA		cadherin EGF LAG seven-pass G-type receptor 3							63.0	56.0	58.0					3																	48687965		2202	4300	6502	SO:0001819	synonymous_variant	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48687965G>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.6420C>A	3.37:g.48687965G>T						CELSR3_uc003cuf.1_Silent_p.P2210P|CELSR3_uc010hkg.2_Silent_p.P118P	p.P2140P	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	16	6701	-			2140			Extracellular (Potential).		O75092	Silent	SNP	ENST00000164024.4	37	c.6420C>A	CCDS2775.1																																																																																				0.617	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1		NM_001407		5	51	1	0	5.9392e-07	0.001168	6.26992e-07	5	51		
DOCK3	1795	broad.mit.edu	37	3	51308411	51308411	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:51308411G>T	ENST00000266037.9	+	24	2544	c.2521G>T	c.(2521-2523)Gtg>Ttg	p.V841L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	841					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGCCAGGACAGTGGATAGCCG	0.547																																						uc011bds.1		NaN																	0					0						c.(2521-2523)GTG>TTG		dedicator of cytokinesis 3							156.0	157.0	157.0					3																	51308411		2024	4179	6203	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51308411G>T	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.2521G>T	3.37:g.51308411G>T	ENSP00000266037:p.Val841Leu						p.V841L	NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	24	2544	+			841					O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.2521G>T	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503811	0.85176	.	.	ENSG00000088538	ENST00000266037	T	0.65549	-0.16	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.66056	0.2751	M	0.80616	2.505	0.80722	D	1	P	0.40250	0.709	B	0.36092	0.217	T	0.70417	-0.4877	10	0.42905	T	0.14	.	19.247	0.93906	0.0:0.0:1.0:0.0	.	841	Q8IZD9	DOCK3_HUMAN	L	841	ENSP00000266037:V841L	ENSP00000266037:V841L	V	+	1	0	DOCK3	51283451	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.551000	0.86045	0.585000	0.79938	GTG		0.547	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5		NM_004947		22	196	1	0	6.12954e-19	0.004656	6.92044e-19	22	196		
GRM2	2912	broad.mit.edu	37	3	51750145	51750145	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:51750145G>A	ENST00000395052.3	+	4	2590	c.2356G>A	c.(2356-2358)Gac>Aac	p.D786N	GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Missense_Mutation_p.D508N	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	786					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CACCTCCAGTGACTACCGGGT	0.532																																						uc010hlv.2		NaN																	0				lung(1)	1						c.(2356-2358)GAC>AAC		glutamate receptor, metabotropic 2 isoform a	Acamprosate(DB00659)|Nicotine(DB00184)						44.0	40.0	41.0					3																	51750145		2203	4300	6503	SO:0001583	missense	2912				synaptic transmission	integral to plasma membrane		g.chr3:51750145G>A	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.2356G>A	3.37:g.51750145G>A	ENSP00000378492:p.Asp786Asn					GRM2_uc003dbo.3_Missense_Mutation_p.D168N|GRM2_uc010hlu.2_RNA	p.D786N	NM_000839	NP_000830	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	2595	+			786			Extracellular (Potential).		B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	ENST00000395052.3	37	c.2356G>A	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.581281	0.46006	.	.	ENSG00000164082	ENST00000395052;ENST00000442933	D;D	0.87650	-2.28;-2.28	4.52	4.52	0.55395	GPCR, family 3, C-terminal (2);	0.000000	0.85682	U	0.000000	D	0.89171	0.6639	L	0.31578	0.945	0.36744	D	0.882363	D	0.60575	0.988	D	0.67382	0.951	D	0.91695	0.5369	10	0.51188	T	0.08	.	17.2255	0.86969	0.0:0.0:1.0:0.0	.	786	Q14416	GRM2_HUMAN	N	786;508	ENSP00000378492:D786N;ENSP00000408906:D508N	ENSP00000378492:D786N	D	+	1	0	GRM2	51725185	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.837000	0.99465	2.244000	0.73946	0.462000	0.41574	GAC		0.532	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1				4	68	0	0	0	0.009096	0	4	68		
SEMA3G	56920	broad.mit.edu	37	3	52473771	52473771	+	Silent	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:52473771G>C	ENST00000231721.2	-	12	1391	c.1392C>G	c.(1390-1392)ctC>ctG	p.L464L		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	464	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CGATGACTTTGAGCACAGACC	0.632																																						uc003dea.1		NaN																	0				ovary(2)	2						c.(1390-1392)CTC>CTG		semaphorin sem2 precursor							58.0	56.0	57.0					3																	52473771		2203	4300	6503	SO:0001819	synonymous_variant	56920				multicellular organismal development	extracellular region|membrane	receptor activity	g.chr3:52473771G>C		CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.1392C>G	3.37:g.52473771G>C							p.L464L	NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)	12	1392	-			464			Sema.		Q7L9D9|Q9H7Q3	Silent	SNP	ENST00000231721.2	37	c.1392C>G	CCDS2856.1																																																																																				0.632	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1		NM_020163		7	61	0	0	0	0.00308	0	7	61		
PRKCD	5580	broad.mit.edu	37	3	53217515	53217515	+	Silent	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:53217515T>C	ENST00000394729.2	+	8	1033	c.705T>C	c.(703-705)gtT>gtC	p.V235V	PRKCD_ENST00000330452.3_Silent_p.V235V	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	235					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	GCTTCAAGGTTCACAACTACA	0.592																																						uc003dgl.2		NaN																	0				central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9						c.(703-705)GTT>GTC		protein kinase C, delta							153.0	121.0	132.0					3																	53217515		2203	4300	6503	SO:0001819	synonymous_variant	5580				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	g.chr3:53217515T>C		CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.705T>C	3.37:g.53217515T>C						PRKCD_uc003dgm.2_Silent_p.V235V|PRKCD_uc010hmt.1_Silent_p.V7V	p.V235V	NM_006254	NP_006245	Q05655	KPCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	9	1058	+		Ovarian(412;0.0728)	235			Phorbol-ester/DAG-type 2.		B0KZ81|B2R834|Q15144|Q86XJ6	Silent	SNP	ENST00000394729.2	37	c.705T>C	CCDS2870.1																																																																																				0.592	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1				19	121	0	0	0	0.012319	0	19	121		
FAM208A	23272	broad.mit.edu	37	3	56674101	56674101	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:56674101G>A	ENST00000493960.2	-	16	2687	c.2677C>T	c.(2677-2679)Ccc>Tcc	p.P893S	FAM208A_ENST00000431842.2_Missense_Mutation_p.P497S|FAM208A_ENST00000355628.5_Missense_Mutation_p.P893S	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	893							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						TGTTCAATGGGAACACTGGGA	0.323																																						uc003did.3		NaN																	0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(2677-2679)CCC>TCC		retinoblastoma-associated protein 140 isoform b							98.0	93.0	94.0					3																	56674101		2203	4300	6503	SO:0001583	missense	23272							g.chr3:56674101G>A	AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.2677C>T	3.37:g.56674101G>A	ENSP00000417509:p.Pro893Ser					C3orf63_uc003dic.3_Missense_Mutation_p.P497S|C3orf63_uc003die.3_Missense_Mutation_p.P893S	p.P893S	NM_015224	NP_056039	Q9UK61	CC063_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)	16	2778	-			893					A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	ENST00000493960.2	37	c.2677C>T	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.683241	0.29872	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.12465	2.68;2.86;2.74	5.13	0.754	0.18410	.	0.386637	0.25319	N	0.031532	T	0.06096	0.0158	N	0.12746	0.255	0.31607	N	0.65203	B;B;B	0.16603	0.018;0.006;0.016	B;B;B	0.22152	0.02;0.012;0.038	T	0.25676	-1.0125	10	0.26408	T	0.33	0.3607	4.4221	0.11486	0.358:0.0:0.5:0.142	.	893;893;497	Q9UK61-3;Q9UK61-4;Q9UK61-2	.;.;.	S	497;893;893	ENSP00000399410:P497S;ENSP00000417509:P893S;ENSP00000347845:P893S	ENSP00000347845:P893S	P	-	1	0	C3orf63	56649141	0.999000	0.42202	0.962000	0.40283	0.984000	0.73092	0.622000	0.24433	-0.092000	0.12417	0.650000	0.86243	CCC		0.323	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2		NM_015224		4	41	0	0	0	0.001984	0	4	41		
DZIP3	9666	broad.mit.edu	37	3	108355537	108355537	+	Silent	SNP	T	T	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:108355537T>G	ENST00000361582.3	+	11	1223	c.993T>G	c.(991-993)ccT>ccG	p.P331P	DZIP3_ENST00000463306.1_Silent_p.P331P	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	331					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GTGATGTACCTGGAATTGTTA	0.318																																						uc003dxd.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(991-993)CCT>CCG		DAZ interacting protein 3, zinc finger							227.0	218.0	221.0					3																	108355537		2203	4300	6503	SO:0001819	synonymous_variant	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108355537T>G	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.993T>G	3.37:g.108355537T>G						DZIP3_uc003dxf.1_Silent_p.P331P|DZIP3_uc011bhm.1_Intron|DZIP3_uc003dxe.1_Silent_p.P331P|DZIP3_uc003dxg.1_Silent_p.P54P	p.P331P	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN			11	1415	+			331					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Silent	SNP	ENST00000361582.3	37	c.993T>G	CCDS2952.1																																																																																				0.318	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1		NM_014648		28	169	0	0	0	0.003271	0	28	169		
SLC9C1	285335	broad.mit.edu	37	3	111936346	111936346	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:111936346C>T	ENST00000305815.5	-	15	1985	c.1733G>A	c.(1732-1734)aGa>aAa	p.R578K	SLC9C1_ENST00000487372.1_Missense_Mutation_p.R530K	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	578					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										TAGTAGTTTTCTAGCAAAGGT	0.303																																						uc003dyu.2		NaN																	0				ovary(3)|breast(2)	5						c.(1732-1734)AGA>AAA		sperm-specific sodium proton exchanger							96.0	99.0	98.0					3																	111936346		2203	4299	6502	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111936346C>T	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.1733G>A	3.37:g.111936346C>T	ENSP00000306627:p.Arg578Lys					SLC9A10_uc011bhu.1_5'UTR|SLC9A10_uc010hqc.2_Missense_Mutation_p.R530K	p.R578K	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN			15	1955	-			578					Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.1733G>A	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	c	6.879	0.531533	0.13127	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.76060	-0.98;-0.99	5.09	5.09	0.68999	.	0.124419	0.34932	N	0.003577	T	0.68586	0.3017	N	0.24115	0.695	0.25882	N	0.98357	B;D	0.76494	0.08;0.999	B;P	0.54499	0.058;0.754	T	0.59016	-0.7533	10	0.08837	T	0.75	.	14.3862	0.66947	0.0:1.0:0.0:0.0	.	530;578	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	K	578;530	ENSP00000306627:R578K;ENSP00000420688:R530K	ENSP00000306627:R578K	R	-	2	0	SLC9A10	113419036	1.000000	0.71417	0.993000	0.49108	0.020000	0.10135	2.211000	0.42825	2.542000	0.85734	0.552000	0.68991	AGA		0.303	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1		NM_183061		5	82	0	0	0	0.001168	0	5	82		
GSK3B	2932	broad.mit.edu	37	3	119720941	119720941	+	Silent	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:119720941T>C	ENST00000264235.8	-	2	1216	c.234A>G	c.(232-234)tcA>tcG	p.S78S	GSK3B_ENST00000316626.5_Silent_p.S78S	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	78	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell migration (GO:0016477)|cellular response to interleukin-3 (GO:0036016)|cellular response to mechanical stimulus (GO:0071260)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|ER overload response (GO:0006983)|establishment of cell polarity (GO:0030010)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hippocampus development (GO:0021766)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|myoblast fusion (GO:0007520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of type B pancreatic cell development (GO:2000077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein binding (GO:0032092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|protein localization to microtubule (GO:0035372)|protein phosphorylation (GO:0006468)|re-entry into mitotic cell cycle (GO:0000320)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of microtubule-based process (GO:0032886)|regulation of neuronal synaptic plasticity (GO:0048168)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|superior temporal gyrus development (GO:0071109)	beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|kinase activity (GO:0016301)|NF-kappaB binding (GO:0051059)|p53 binding (GO:0002039)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II transcription factor binding (GO:0001085)|tau-protein kinase activity (GO:0050321)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	CCAGTTCTCCTGAATCACAAA	0.398																																						uc003edo.2		NaN																	0				lung(2)	2						c.(232-234)TCA>TCG		glycogen synthase kinase 3 beta isoform 2	Lithium(DB01356)						213.0	198.0	204.0					3																	119720941		2203	4300	6503	SO:0001819	synonymous_variant	2932				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding	g.chr3:119720941T>C	BC012760	CCDS2996.1, CCDS54628.1	3q13.3	2008-02-15			ENSG00000082701	ENSG00000082701			4617	protein-coding gene	gene with protein product		605004				10486203	Standard	NM_002093		Approved		uc003edm.3	P49841	OTTHUMG00000133765	ENST00000264235.8:c.234A>G	3.37:g.119720941T>C						GSK3B_uc003edn.2_Silent_p.S78S	p.S78S	NM_001146156	NP_001139628	P49841	GSK3B_HUMAN		GBM - Glioblastoma multiforme(114;0.24)	2	1217	-			78			Protein kinase.		D3DN89|Q9BWH3|Q9UL47	Silent	SNP	ENST00000264235.8	37	c.234A>G	CCDS54628.1																																																																																				0.398	GSK3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258240.2				42	224	0	0	0	0.01441	0	42	224		
SEMA5B	54437	broad.mit.edu	37	3	122667521	122667521	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:122667521C>T	ENST00000357599.3	-	3	546	c.160G>A	c.(160-162)Gca>Aca	p.A54T	SEMA5B_ENST00000465147.1_5'UTR|SEMA5B_ENST00000451055.2_Missense_Mutation_p.A108T|SEMA5B_ENST00000195173.4_Missense_Mutation_p.A54T	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	54					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGCCCCTCTGCAGTCCTAGCT	0.612																																						uc003efz.1		NaN																	0				ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7						c.(160-162)GCA>ACA		semaphorin 5B isoform 1							36.0	36.0	36.0					3																	122667521		2203	4300	6503	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122667521C>T	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.160G>A	3.37:g.122667521C>T	ENSP00000350215:p.Ala54Thr					SEMA5B_uc011bju.1_5'UTR|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.A54T|SEMA5B_uc010hro.1_5'UTR|SEMA5B_uc010hrp.1_RNA	p.A54T	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	3	464	-			54			Extracellular (Potential).		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.160G>A	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	C	9.963	1.223459	0.22457	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000451055;ENST00000393583;ENST00000421053;ENST00000449546	T;T;T;T	0.34472	1.39;1.36;1.43;1.49	4.25	2.32	0.28847	.	0.747810	0.11473	N	0.560527	T	0.19525	0.0469	N	0.08118	0	0.22835	N	0.998672	B	0.02656	0.0	B	0.04013	0.001	T	0.20505	-1.0273	10	0.62326	D	0.03	.	8.489	0.33089	0.0:0.7903:0.0:0.2097	.	54	Q9P283	SEM5B_HUMAN	T	54;54;108;54;54;54	ENSP00000350215:A54T;ENSP00000195173:A54T;ENSP00000389588:A108T;ENSP00000377208:A54T	ENSP00000195173:A54T	A	-	1	0	SEMA5B	124150211	0.004000	0.15560	0.378000	0.26068	0.291000	0.27294	0.703000	0.25646	0.640000	0.30582	0.650000	0.86243	GCA		0.612	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1		NM_001031702		6	52	0	0	0	0.006214	0	6	52		
SNX4	8723	broad.mit.edu	37	3	125166629	125166629	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:125166629C>T	ENST00000251775.4	-	14	1371	c.1347G>A	c.(1345-1347)aaG>aaA	p.K449K	SNX4_ENST00000536067.1_Silent_p.K304K|snoU13_ENST00000458897.1_RNA	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	449					endocytic recycling (GO:0032456)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|early endosome membrane (GO:0031901)|membrane (GO:0016020)|protein complex (GO:0043234)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						AGGATTACATCTTGCTAAAGC	0.313																																						uc003eib.2		NaN																	0				breast(2)|ovary(1)|central_nervous_system(1)	4						c.(1345-1347)AAG>AAA		sorting nexin 4							104.0	106.0	105.0					3																	125166629		2202	4299	6501	SO:0001819	synonymous_variant	8723				cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding	g.chr3:125166629C>T	AF065485	CCDS3032.1	3q21.2	2014-02-12			ENSG00000114520	ENSG00000114520		"""Sorting nexins"""	11175	protein-coding gene	gene with protein product		605931				9819414	Standard	NM_003794		Approved	ATG24B	uc003eib.4	O95219	OTTHUMG00000159575	ENST00000251775.4:c.1347G>A	3.37:g.125166629C>T						SNX4_uc011bkf.1_Silent_p.K304K	p.K449K	NM_003794	NP_003785	O95219	SNX4_HUMAN			14	1389	-			449					B3KMH0|B4DQV4|D3DNA3	Silent	SNP	ENST00000251775.4	37	c.1347G>A	CCDS3032.1																																																																																				0.313	SNX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356299.1		NM_003794		17	118	0	0	0	0.014323	0	17	118		
A4GNT	51146	broad.mit.edu	37	3	137843160	137843160	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:137843160C>T	ENST00000236709.3	-	3	1170	c.969G>A	c.(967-969)ctG>ctA	p.L323L		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	323					carbohydrate metabolic process (GO:0005975)|glycoprotein biosynthetic process (GO:0009101)|negative regulation of epithelial cell proliferation (GO:0050680)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylglucosaminyltransferase activity (GO:0008375)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						GGCCTTTAATCAGGTCCCTGT	0.522																																						uc003ers.2		NaN																	0				central_nervous_system(1)	1						c.(967-969)CTG>CTA		alpha-1,4-N-acetylglucosaminyltransferase							96.0	106.0	103.0					3																	137843160		2203	4300	6503	SO:0001819	synonymous_variant	51146				protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:137843160C>T	AF141315	CCDS3097.1	3p14.3	2010-12-14			ENSG00000118017	ENSG00000118017			17968	protein-coding gene	gene with protein product						10430883	Standard	NM_016161		Approved	alpha4GnT	uc003ers.2	Q9UNA3	OTTHUMG00000159820	ENST00000236709.3:c.969G>A	3.37:g.137843160C>T							p.L323L	NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN			3	1171	-			323			Lumenal (Potential).		Q0VDK1|Q0VDK2	Silent	SNP	ENST00000236709.3	37	c.969G>A	CCDS3097.1																																																																																				0.522	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357557.1		NM_016161		7	114	0	0	0	0.001984	0	7	114		
ZBTB38	253461	broad.mit.edu	37	3	141161237	141161237	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:141161237G>A	ENST00000514251.1	+	4	286	c.7G>A	c.(7-9)Gtc>Atc	p.V3I	ZBTB38_ENST00000441582.2_Missense_Mutation_p.V3I|ZBTB38_ENST00000321464.5_Missense_Mutation_p.V4I					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TCAGATGACAGTCATGTCCCT	0.438																																						uc003etw.2		NaN																	0				ovary(3)	3						c.(7-9)GTC>ATC		zinc finger and BTB domain containing 38							98.0	90.0	92.0					3																	141161237		1883	4114	5997	SO:0001583	missense	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141161237G>A	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.7G>A	3.37:g.141161237G>A	ENSP00000426387:p.Val3Ile					ZBTB38_uc010hun.2_5'UTR|ZBTB38_uc010huo.2_Missense_Mutation_p.V3I|ZBTB38_uc003ety.2_Missense_Mutation_p.V3I|ZBTB38_uc010hup.2_Missense_Mutation_p.V4I	p.V3I	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN			8	989	+			3						Missense_Mutation	SNP	ENST00000514251.1	37	c.7G>A	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.421612	0.62622	.	.	ENSG00000177311	ENST00000509842;ENST00000507722;ENST00000503809;ENST00000513258;ENST00000509883;ENST00000514251;ENST00000510338;ENST00000504673;ENST00000513570;ENST00000441582;ENST00000321464;ENST00000510726;ENST00000509813	T;T;T;T;T;T;T;T;T;T;T;T	0.79653	-1.1;-1.29;0.19;3.34;2.85;-1.09;0.26;-0.74;2.85;2.96;-1.21;0.2	5.17	5.17	0.71159	.	0.179052	0.37761	N	0.001943	T	0.71264	0.3319	L	0.43152	1.355	0.33267	D	0.560483	B;B	0.28636	0.218;0.218	B;B	0.23150	0.044;0.044	T	0.75900	-0.3154	10	0.44086	T	0.13	-25.2234	9.7409	0.40418	0.1547:0.0:0.8453:0.0	.	4;3	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	I	3;3;3;3;3;3;3;3;3;3;4;3;3	ENSP00000426931:V3I;ENSP00000421037:V3I;ENSP00000426288:V3I;ENSP00000424254:V3I;ENSP00000426387:V3I;ENSP00000425705:V3I;ENSP00000422347:V3I;ENSP00000422757:V3I;ENSP00000406955:V3I;ENSP00000372635:V4I;ENSP00000422081:V3I;ENSP00000422894:V3I	ENSP00000372635:V4I	V	+	1	0	ZBTB38	142643927	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.631000	0.67812	2.592000	0.87571	0.591000	0.81541	GTC		0.438	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2				19	121	0	0	0	0.010504	0	19	121		
ZBTB38	253461	broad.mit.edu	37	3	141163550	141163550	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:141163550A>G	ENST00000514251.1	+	4	2599	c.2320A>G	c.(2320-2322)Att>Gtt	p.I774V	ZBTB38_ENST00000321464.5_Missense_Mutation_p.I775V|ZBTB38_ENST00000441582.2_Missense_Mutation_p.I774V					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						ACCCAAAAGCATTAAGGAGAA	0.468																																						uc003etw.2		NaN																	0				ovary(3)	3						c.(2320-2322)ATT>GTT		zinc finger and BTB domain containing 38							56.0	54.0	55.0					3																	141163550		1895	4115	6010	SO:0001583	missense	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141163550A>G	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.2320A>G	3.37:g.141163550A>G	ENSP00000426387:p.Ile774Val					ZBTB38_uc010hun.2_Missense_Mutation_p.I771V|ZBTB38_uc010huo.2_Missense_Mutation_p.I774V|ZBTB38_uc003ety.2_Missense_Mutation_p.I774V|ZBTB38_uc010hup.2_Missense_Mutation_p.I775V	p.I774V	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN			8	3302	+			774						Missense_Mutation	SNP	ENST00000514251.1	37	c.2320A>G	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	A	4.839	0.155993	0.09236	.	.	ENSG00000177311	ENST00000514251;ENST00000441582;ENST00000321464	T;T;T	0.08807	3.05;3.05;3.05	5.31	-5.82	0.02333	.	0.985305	0.08281	N	0.969884	T	0.03651	0.0104	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.45041	-0.9288	9	.	.	.	0.2077	0.3166	0.00296	0.3694:0.2232:0.1916:0.2159	.	775;774	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	V	774;774;775	ENSP00000426387:I774V;ENSP00000406955:I774V;ENSP00000372635:I775V	.	I	+	1	0	ZBTB38	142646240	0.000000	0.05858	0.036000	0.18154	0.969000	0.65631	-0.404000	0.07205	-1.094000	0.03054	0.519000	0.50382	ATT		0.468	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2				6	39	0	0	0	0.00308	0	6	39		
ATR	545	broad.mit.edu	37	3	142226809	142226809	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:142226809C>T	ENST00000350721.4	-	28	5116	c.4995G>A	c.(4993-4995)aaG>aaA	p.K1665K	ATR_ENST00000383101.3_Silent_p.K1601K	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1665	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TATTTTGCTTCTTTTCTGTAA	0.348								Other conserved DNA damage response genes																														uc003eux.3		NaN																	0				lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						c.(4993-4995)AAG>AAA	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein							65.0	65.0	65.0					3																	142226809		2203	4300	6503	SO:0001819	synonymous_variant	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142226809C>T	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.4995G>A	3.37:g.142226809C>T							p.K1665K	NM_001184	NP_001175	Q13535	ATR_HUMAN			28	5117	-			1665			FAT.		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	ENST00000350721.4	37	c.4995G>A	CCDS3124.1																																																																																				0.348	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2		NM_001184		8	48	0	0	0	0.006214	0	8	48		
HPS3	84343	broad.mit.edu	37	3	148872982	148872982	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:148872982G>A	ENST00000296051.2	+	8	1629	c.1489G>A	c.(1489-1491)Gtg>Atg	p.V497M	HPS3_ENST00000460120.1_Missense_Mutation_p.V332M	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	497					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GATCTCACCAGTGCAGCTGTA	0.333									Hermansky-Pudlak syndrome																													uc003ewu.1		NaN																	0				ovary(5)|large_intestine(1)	6						c.(1489-1491)GTG>ATG		Hermansky-Pudlak syndrome 3 protein							144.0	150.0	148.0					3																	148872982		2203	4300	6503	SO:0001583	missense	84343	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148872982G>A	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.1489G>A	3.37:g.148872982G>A	ENSP00000296051:p.Val497Met					HPS3_uc011bnq.1_Missense_Mutation_p.V332M	p.V497M	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		8	1629	+			497					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	c.1489G>A	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	g	6.126	0.391416	0.11581	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.63744	-0.06;-0.06	4.89	-0.0211	0.13953	.	0.575636	0.18265	N	0.146485	T	0.52435	0.1734	L	0.60455	1.87	0.09310	N	1	B;B	0.22480	0.014;0.07	B;B	0.26202	0.042;0.067	T	0.46190	-0.9209	10	0.45353	T	0.12	-1.9913	5.9868	0.19438	0.4855:0.1339:0.3806:0.0	.	332;497	G5E9V4;Q969F9	.;HPS3_HUMAN	M	497;332	ENSP00000296051:V497M;ENSP00000418230:V332M	ENSP00000296051:V497M	V	+	1	0	HPS3	150355672	0.006000	0.16342	0.275000	0.24674	0.382000	0.30200	-0.023000	0.12456	-0.114000	0.11936	-0.119000	0.15052	GTG		0.333	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1		NM_032383		14	84	0	0	0	0.004007	0	14	84		
CCNL1	57018	broad.mit.edu	37	3	156866286	156866286	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:156866286T>A	ENST00000295926.3	-	11	1443	c.1325A>T	c.(1324-1326)aAt>aTt	p.N442I	CCNL1_ENST00000479052.1_5'Flank|CCNL1_ENST00000461804.1_Intron	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	442					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|nucleus (GO:0005634)				NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			AGAACCATGATTATGATGTCT	0.423																																						uc003fbf.2		NaN																	0				lung(3)|breast(1)|skin(1)	5						c.(1324-1326)AAT>ATT		cyclin L1							187.0	189.0	188.0					3																	156866286		2203	4300	6503	SO:0001583	missense	57018				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr3:156866286T>A	AF180920	CCDS3178.1	3q25.31	2008-02-05			ENSG00000163660	ENSG00000163660			20569	protein-coding gene	gene with protein product		613384				11980906	Standard	NM_020307		Approved	ania-6a	uc003fbf.3	Q9UK58	OTTHUMG00000158713	ENST00000295926.3:c.1325A>T	3.37:g.156866286T>A	ENSP00000295926:p.Asn442Ile					CCNL1_uc003fbd.1_Intron|CCNL1_uc003fbe.2_Missense_Mutation_p.N236I|CCNL1_uc003fbg.2_RNA|CCNL1_uc011bor.1_RNA	p.N442I	NM_020307	NP_064703	Q9UK58	CCNL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)		11	1924	-			442					B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3	Missense_Mutation	SNP	ENST00000295926.3	37	c.1325A>T	CCDS3178.1	.	.	.	.	.	.	.	.	.	.	T	17.18	3.323594	0.60634	.	.	ENSG00000163660	ENST00000295926	T	0.18174	2.23	5.0	5.0	0.66597	.	0.260244	0.44688	D	0.000440	T	0.18593	0.0446	L	0.54323	1.7	0.80722	D	1	P	0.40476	0.718	B	0.36719	0.231	T	0.02244	-1.1189	10	0.44086	T	0.13	-20.0179	15.0209	0.71630	0.0:0.0:0.0:1.0	.	442	Q9UK58	CCNL1_HUMAN	I	442	ENSP00000295926:N442I	ENSP00000295926:N442I	N	-	2	0	CCNL1	158348980	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.273000	0.65564	1.993000	0.58246	0.455000	0.32223	AAT		0.423	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351859.1		NM_020307		21	124	0	0	0	0.014323	0	21	124		
SMC4	10051	broad.mit.edu	37	3	160138558	160138558	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:160138558G>C	ENST00000357388.3	+	13	2339	c.1888G>C	c.(1888-1890)Gac>Cac	p.D630H	SMC4_ENST00000360111.2_Missense_Mutation_p.D630H|SMC4_ENST00000344722.5_Missense_Mutation_p.D630H|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000469762.1_Missense_Mutation_p.D605H|SMC4_ENST00000462787.1_Missense_Mutation_p.D630H	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	630	Flexible hinge.				kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGAAAAATACGACGTGGCTAT	0.373																																						uc003fdh.2		NaN																	0				ovary(1)|breast(1)	2						c.(1888-1890)GAC>CAC		SMC4 structural maintenance of chromosomes							165.0	153.0	157.0					3																	160138558		2203	4300	6503	SO:0001583	missense	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160138558G>C	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.1888G>C	3.37:g.160138558G>C	ENSP00000349961:p.Asp630His					IFT80_uc003fda.2_Intron|SMC4_uc010hwc.1_Missense_Mutation_p.D394H|SMC4_uc003fdi.2_Missense_Mutation_p.D605H|SMC4_uc003fdj.2_Missense_Mutation_p.D630H|SMC4_uc010hwd.2_Missense_Mutation_p.D630H|SMC4_uc003fdl.2_Missense_Mutation_p.D333H	p.D630H	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		13	2001	+			630			Flexible hinge.		A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	c.1888G>C	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812078	0.70797	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	D;D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12;-2.12	5.43	4.56	0.56223	SMCs flexible hinge (3);RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.94958	0.8369	H	0.94808	3.585	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.994;1.0	D;D;D;D	0.81914	0.982;0.995;0.955;0.992	D	0.95824	0.8852	10	0.87932	D	0	-28.2261	13.4568	0.61204	0.076:0.0:0.924:0.0	.	630;605;605;630	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	H	630;630;605;630;630;224	ENSP00000349961:D630H;ENSP00000353225:D630H;ENSP00000417964:D605H;ENSP00000420734:D630H;ENSP00000341382:D630H	ENSP00000341382:D630H	D	+	1	0	SMC4	161621252	1.000000	0.71417	0.877000	0.34402	0.608000	0.37181	9.622000	0.98378	1.275000	0.44379	0.544000	0.68410	GAC		0.373	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1				18	133	0	0	0	0.010504	0	18	133		
CCDC39	339829	broad.mit.edu	37	3	180359944	180359944	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:180359944T>G	ENST00000442201.2	-	13	1830	c.1711A>C	c.(1711-1713)Act>Cct	p.T571P	CCDC39_ENST00000273654.4_Missense_Mutation_p.T655P	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	571					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|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 involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ATTTCTCGAGTACGCTTAACT	0.323																																						uc010hxe.2		NaN																	0				ovary(4)	4						c.(1711-1713)ACT>CCT		coiled-coil domain containing 39							112.0	96.0	101.0					3																	180359944		1826	4088	5914	SO:0001583	missense	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180359944T>G	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.1711A>C	3.37:g.180359944T>G	ENSP00000405708:p.Thr571Pro					CCDC39_uc003fkn.2_RNA	p.T571P	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		13	1826	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		571			Potential.		B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	c.1711A>C	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	T	10.59	1.393012	0.25118	.	.	ENSG00000145075	ENST00000273654;ENST00000442201	T;T	0.22539	1.95;1.95	5.06	-2.0	0.07433	.	0.752735	0.13166	N	0.408675	T	0.15046	0.0363	L	0.44542	1.39	0.09310	N	1	P	0.35208	0.49	B	0.33799	0.17	T	0.15464	-1.0436	10	0.54805	T	0.06	-0.1693	7.4252	0.27094	0.0:0.4272:0.2551:0.3177	.	571	Q9UFE4	CCD39_HUMAN	P	655;571	ENSP00000273654:T655P;ENSP00000405708:T571P	ENSP00000273654:T655P	T	-	1	0	CCDC39	181842638	0.005000	0.15991	0.805000	0.32314	0.648000	0.38561	-0.101000	0.10973	-0.170000	0.10816	-1.074000	0.02243	ACT		0.323	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3		XM_291028		10	24	0	0	0	0.010729	0	10	24		
KLHL6	89857	broad.mit.edu	37	3	183217612	183217612	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:183217612T>A	ENST00000341319.3	-	4	948	c.913A>T	c.(913-915)Att>Ttt	p.I305F		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	305					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CGTTCCGAAATGATCTGGAAA	0.522																																						uc003flr.2		NaN																	0				haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3						c.(913-915)ATT>TTT		kelch-like 6							66.0	52.0	57.0					3																	183217612		2203	4300	6503	SO:0001583	missense	89857							g.chr3:183217612T>A	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.913A>T	3.37:g.183217612T>A	ENSP00000341342:p.Ile305Phe					KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_Intron	p.I305F	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)		4	971	-	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		305					B2RB31|D3DNS8|Q8N5I1|Q8N892	Missense_Mutation	SNP	ENST00000341319.3	37	c.913A>T	CCDS3245.2	.	.	.	.	.	.	.	.	.	.	T	12.51	1.960187	0.34565	.	.	ENSG00000172578	ENST00000341319	T	0.74106	-0.81	5.13	5.13	0.70059	.	0.048392	0.85682	D	0.000000	T	0.70369	0.3216	L	0.57536	1.79	0.58432	D	0.999998	P	0.43826	0.818	B	0.38880	0.284	T	0.72808	-0.4181	10	0.40728	T	0.16	.	15.2502	0.73539	0.0:0.0:0.0:1.0	.	305	Q8WZ60	KLHL6_HUMAN	F	305	ENSP00000341342:I305F	ENSP00000341342:I305F	I	-	1	0	KLHL6	184700306	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.705000	0.68355	2.072000	0.62099	0.459000	0.35465	ATT		0.522	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1		NM_130446		6	42	0	0	0	0.001984	0	6	42		
EPHB3	2049	broad.mit.edu	37	3	184299392	184299392	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:184299392G>A	ENST00000330394.2	+	16	3431	c.2979G>A	c.(2977-2979)acG>acA	p.T993T	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	993					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TGAACCAGACGCTGCCTGTGC	0.617																																						uc003foz.2		NaN																	0				lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11						c.(2977-2979)ACG>ACA		ephrin receptor EphB3 precursor							39.0	37.0	37.0					3																	184299392		2203	4300	6503	SO:0001819	synonymous_variant	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184299392G>A	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.2979G>A	3.37:g.184299392G>A							p.T993T	NM_004443	NP_004434	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		16	3416	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		993			Cytoplasmic (Potential).		Q7Z740	Silent	SNP	ENST00000330394.2	37	c.2979G>A	CCDS3268.1																																																																																				0.617	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1		NM_004443		3	29	0	0	0	0.009096	0	3	29		
DGKG	1608	broad.mit.edu	37	3	185970927	185970927	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:185970927G>A	ENST00000265022.3	-	18	2094	c.1555C>T	c.(1555-1557)Ctt>Ttt	p.L519F	DGKG_ENST00000544847.1_Missense_Mutation_p.L460F|DGKG_ENST00000344484.4_Missense_Mutation_p.L494F|DGKG_ENST00000382164.4_Missense_Mutation_p.L480F	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	519	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CCTGTTCCAAGAGGCAGGACA	0.512																																						uc003fqa.2		NaN																	0				breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(1555-1557)CTT>TTT		diacylglycerol kinase gamma isoform 1	Phosphatidylserine(DB00144)						166.0	129.0	141.0					3																	185970927		2203	4300	6503	SO:0001583	missense	1608				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr3:185970927G>A	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.1555C>T	3.37:g.185970927G>A	ENSP00000265022:p.Leu519Phe					DGKG_uc003fqb.2_Missense_Mutation_p.L480F|DGKG_uc003fqc.2_Missense_Mutation_p.L494F|DGKG_uc011brx.1_Missense_Mutation_p.L460F	p.L519F	NM_001346	NP_001337	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	18	2092	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		519			DAGKc.		B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	ENST00000265022.3	37	c.1555C>T	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.014610	0.93404	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847;ENST00000538691	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	4.97	4.97	0.65823	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.64402	D	0.000003	T	0.57946	0.2088	M	0.86343	2.81	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	T	0.65100	-0.6250	10	0.87932	D	0	.	17.5152	0.87771	0.0:0.0:1.0:0.0	.	460;494;480;519	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	F	519;494;480;460;483	ENSP00000265022:L519F;ENSP00000339777:L494F;ENSP00000371599:L480F;ENSP00000440507:L460F	ENSP00000265022:L519F	L	-	1	0	DGKG	187453621	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.513000	0.60476	2.742000	0.94016	0.655000	0.94253	CTT		0.512	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3				15	126	0	0	0	0.007413	0	15	126		
KIAA0226	9711	broad.mit.edu	37	3	197427591	197427591	+	Missense_Mutation	SNP	C	C	T	rs559652801	byFrequency	TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:197427591C>T	ENST00000296343.5	-	7	1153	c.1154G>A	c.(1153-1155)cGc>cAc	p.R385H	KIAA0226_ENST00000389665.5_Missense_Mutation_p.R385H|KIAA0226_ENST00000273582.5_Missense_Mutation_p.R325H|KIAA0226_ENST00000449205.1_Missense_Mutation_p.R385H|KIAA0226_ENST00000467303.1_5'Flank	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	385	Ser-rich.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		GCTGGACCTGCGGAGGACACT	0.577													C|||	2	0.000399361	0.0	0.0	5008	,	,		17944	0.0		0.0	False		,,,				2504	0.002				Esophageal Squamous(3;167 355 3763 15924)	uc003fyc.2		NaN																	0					0						c.(1153-1155)CGC>CAC		hypothetical protein LOC9711 isoform 2.							66.0	70.0	69.0					3																	197427591		2047	4194	6241	SO:0001583	missense	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197427591C>T	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.1154G>A	3.37:g.197427591C>T	ENSP00000296343:p.Arg385His					KIAA0226_uc003fyd.3_Missense_Mutation_p.R325H|KIAA0226_uc003fye.1_Missense_Mutation_p.R92H|KIAA0226_uc003fyf.2_Missense_Mutation_p.R218H|KIAA0226_uc003fyg.2_Missense_Mutation_p.R378H	p.R385H	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	7	1337	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		385			Ser-rich.		Q96CK5	Missense_Mutation	SNP	ENST00000296343.5	37	c.1154G>A	CCDS43195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.3|23.3	4.404124|4.404124	0.83230|0.83230	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000415452|ENST00000273582;ENST00000296343;ENST00000389665;ENST00000447048;ENST00000449205	.|.	.|.	.|.	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	.|0.056390	.|0.64402	.|D	.|0.000002	T|T	0.75228|0.75228	0.3821|0.3821	L|L	0.48642|0.48642	1.525|1.525	0.49582|0.49582	D|D	0.999802|0.999802	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;0.999	.|D;D;D;D;D	.|0.87578	.|0.998;0.997;0.983;0.984;0.931	T|T	0.75105|0.75105	-0.3435|-0.3435	5|9	.|0.59425	.|D	.|0.04	.|.	18.3536|18.3536	0.90348|0.90348	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|385;218;385;325;385	.|E9PEM3;Q5HYI6;Q92622-3;Q92622-2;Q92622	.|.;.;.;.;RUBIC_HUMAN	T|H	144|325;385;385;17;385	.|.	.|ENSP00000273582:R325H	A|R	-|-	1|2	0|0	KIAA0226|KIAA0226	198911988|198911988	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	6.220000|6.220000	0.72237|0.72237	2.768000|2.768000	0.95171|0.95171	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.577	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1		XM_032901		22	85	0	0	0	0.012319	0	22	85		
FGFR3	2261	broad.mit.edu	37	4	1807559	1807559	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:1807559C>T	ENST00000260795.2	+	12	1830	c.1728C>T	c.(1726-1728)gaC>gaT	p.D576D	FGFR3_ENST00000352904.1_Silent_p.D464D|FGFR3_ENST00000481110.2_Silent_p.D577D|FGFR3_ENST00000412135.2_Silent_p.D464D|FGFR3_ENST00000440486.2_Silent_p.D576D|FGFR3_ENST00000340107.4_Silent_p.D578D			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	576	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	cgggccTGGACTACTCCTTCG	0.682		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													uc003gdr.3		1		Dom	yes		4	4p16.3	2261	Mis|T	fibroblast growth factor receptor 3	yes	Hypochondroplasia|Thanatophoric dysplasia	"""L, E"""	IGH@|ETV6		bladder|MM|T-cell lymphoma		0				urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600						c.(1726-1728)GAC>GAT		fibroblast growth factor receptor 3 isoform 1	Palifermin(DB00039)						34.0	43.0	40.0					4																	1807559		2200	4297	6497	SO:0001819	synonymous_variant	2261	Muenke_syndrome|Saethre-Chotzen_syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1807559C>T	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.1728C>T	4.37:g.1807559C>T						FGFR3_uc003gdu.2_Silent_p.D578D|FGFR3_uc003gds.3_Silent_p.D464D|FGFR3_uc003gdq.3_Silent_p.D577D	p.D576D	NM_000142	NP_000133	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		13	1984	+		Breast(71;0.212)|all_epithelial(65;0.241)	576			Protein kinase.|Cytoplasmic (Potential).		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Silent	SNP	ENST00000260795.2	37	c.1728C>T	CCDS3353.1																																																																																				0.682	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2		NM_000142		35	159	0	0	0	0.01441	0	35	159		
OTOP1	133060	broad.mit.edu	37	4	4199012	4199012	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:4199012C>T	ENST00000296358.4	-	5	1573	c.1549G>A	c.(1549-1551)Gag>Aag	p.E517K		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	517					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTGCTCTCCTCCTGCTTCTCC	0.567																																						uc003ghp.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1549-1551)GAG>AAG		otopetrin 1							58.0	62.0	61.0					4																	4199012		2203	4300	6503	SO:0001583	missense	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4199012C>T	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.1549G>A	4.37:g.4199012C>T	ENSP00000296358:p.Glu517Lys						p.E517K	NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	5	1579	-			517					A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	c.1549G>A	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	C	5.236	0.228956	0.09916	.	.	ENSG00000163982	ENST00000296358	T	0.08102	3.13	4.79	1.42	0.22433	.	1.155780	0.06074	N	0.660643	T	0.03959	0.0111	N	0.08118	0	0.09310	N	1	B	0.18863	0.031	B	0.11329	0.006	T	0.40175	-0.9577	10	0.07030	T	0.85	-8.287	6.5283	0.22312	0.0:0.4594:0.3541:0.1865	.	517	Q7RTM1	OTOP1_HUMAN	K	517	ENSP00000296358:E517K	ENSP00000296358:E517K	E	-	1	0	OTOP1	4249913	0.991000	0.36638	0.035000	0.18076	0.191000	0.23601	1.766000	0.38491	0.504000	0.28082	0.400000	0.26472	GAG		0.567	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2		NM_177998		8	80	0	0	0	0.00308	0	8	80		
GABRB1	2560	broad.mit.edu	37	4	47427924	47427924	+	Silent	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:47427924C>G	ENST00000295454.3	+	9	1606	c.1314C>G	c.(1312-1314)gtC>gtG	p.V438V	GABRB1_ENST00000538619.1_Silent_p.V368V	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	438					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGCTCAAAGTCAAGATCCCCG	0.572																																						uc003gxh.2		NaN																	0				ovary(2)	2						c.(1312-1314)GTC>GTG		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						84.0	84.0	84.0					4																	47427924		2203	4300	6503	SO:0001819	synonymous_variant	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47427924C>G		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1314C>G	4.37:g.47427924C>G						GABRB1_uc011bze.1_Silent_p.V368V	p.V438V	NM_000812	NP_000803	P18505	GBRB1_HUMAN			9	1688	+			438			Cytoplasmic (Probable).		B2R6U7|D6REL3|Q16166|Q8TBK3	Silent	SNP	ENST00000295454.3	37	c.1314C>G	CCDS3474.1																																																																																				0.572	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1				20	157	0	0	0	0.012319	0	20	157		
GC	2638	broad.mit.edu	37	4	72622632	72622632	+	Splice_Site	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:72622632C>T	ENST00000273951.8	-	8	1175		c.e8-1		RNA5SP163_ENST00000410304.1_RNA|GC_ENST00000504199.1_Splice_Site|GC_ENST00000513476.1_Splice_Site|GC_ENST00000503472.1_Splice_Site	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)						small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	GTTCAGGCAGCTACAAAACGA	0.338																																						uc003hge.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.e8-1		vitamin D-binding protein precursor	Cholecalciferol(DB00169)						55.0	54.0	54.0					4																	72622632		2203	4300	6503	SO:0001630	splice_region_variant	2638				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	g.chr4:72622632C>T	L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.832-1G>A	4.37:g.72622632C>T						GC_uc003hgd.2_Splice_Site_p.L156_splice|GC_uc010iie.2_Splice_Site_p.L278_splice|GC_uc010iif.2_Splice_Site_p.L297_splice	p.L278_splice	NM_000583	NP_000574	P02774	VTDB_HUMAN	Lung(101;0.148)		8	985	-		all_hematologic(202;0.107)						B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Splice_Site	SNP	ENST00000273951.8	37	c.832_splice	CCDS3550.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.963467	0.34659	.	.	ENSG00000145321	ENST00000273951;ENST00000504199;ENST00000513476	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5711	0.87934	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GC	72841496	1.000000	0.71417	0.999000	0.59377	0.254000	0.26022	4.359000	0.59449	2.767000	0.95098	0.655000	0.94253	.		0.338	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2			Intron	54	84	0	0	0	0.01441	0	54	84		
ANKRD17	26057	broad.mit.edu	37	4	73959821	73959821	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:73959821T>C	ENST00000358602.4	-	28	5418	c.5302A>G	c.(5302-5304)Act>Gct	p.T1768A	ANKRD17_ENST00000509867.2_Missense_Mutation_p.T1655A|ANKRD17_ENST00000330838.6_Missense_Mutation_p.T1517A	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1768	KH. {ECO:0000255|PROSITE- ProRule:PRU00117}.				blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CGGTCTCCAGTCTTGTCTTTC	0.358																																						uc003hgp.2		NaN																	0				ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10						c.(5302-5304)ACT>GCT		ankyrin repeat domain protein 17 isoform a							212.0	200.0	204.0					4																	73959821		2202	4300	6502	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73959821T>C	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.5302A>G	4.37:g.73959821T>C	ENSP00000351416:p.Thr1768Ala					ANKRD17_uc003hgo.2_Missense_Mutation_p.T1655A|ANKRD17_uc003hgq.2_Missense_Mutation_p.T1517A|ANKRD17_uc003hgr.2_Missense_Mutation_p.T1767A	p.T1768A	NM_032217	NP_115593	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		28	5419	-	Breast(15;0.000295)		1768			KH.		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.5302A>G	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.727339	0.89390	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000426917	T;T;T	0.28666	1.6;1.6;1.6	5.52	5.52	0.82312	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.64402	D	0.000005	T	0.25494	0.0620	N	0.11313	0.125	0.41312	D	0.987114	P;P;P;P	0.47034	0.865;0.865;0.889;0.798	B;B;P;P	0.47044	0.4;0.4;0.535;0.535	T	0.15809	-1.0424	10	0.66056	D	0.02	.	15.6516	0.77099	0.0:0.0:0.0:1.0	.	1767;1517;1768;1655	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	A	1768;1175;1517;1655;152	ENSP00000351416:T1768A;ENSP00000332265:T1517A;ENSP00000427151:T1655A	ENSP00000332265:T1517A	T	-	1	0	ANKRD17	74178685	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.625000	0.83145	2.088000	0.63022	0.477000	0.44152	ACT		0.358	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1		NM_032217		139	120	0	0	0	0.01441	0	139	120		
WDFY3	23001	broad.mit.edu	37	4	85678145	85678145	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:85678145A>T	ENST00000295888.4	-	33	5765	c.5358T>A	c.(5356-5358)agT>agA	p.S1786R	WDFY3_ENST00000322366.6_Missense_Mutation_p.S1786R	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1786					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CAGGCAGCTCACTAACTGGCT	0.502																																						uc003hpd.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(5356-5358)AGT>AGA		WD repeat and FYVE domain containing 3 isoform							117.0	119.0	118.0					4																	85678145		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85678145A>T	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.5358T>A	4.37:g.85678145A>T	ENSP00000295888:p.Ser1786Arg						p.S1786R	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	33	5766	-		Hepatocellular(203;0.114)	1786					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.5358T>A	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	A	11.59	1.682961	0.29872	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.63096	-0.02;-0.01	6.17	-0.581	0.11713	.	0.082732	0.85682	D	0.000000	T	0.32071	0.0817	N	0.02802	-0.49	0.37772	D	0.926713	B	0.02656	0.0	B	0.04013	0.001	T	0.07578	-1.0765	10	0.23302	T	0.38	.	11.5408	0.50665	0.5961:0.0:0.4039:0.0	.	1786	Q8IZQ1	WDFY3_HUMAN	R	1786	ENSP00000318466:S1786R;ENSP00000295888:S1786R	ENSP00000295888:S1786R	S	-	3	2	WDFY3	85897169	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	1.037000	0.30241	-0.047000	0.13423	-0.290000	0.09829	AGT		0.502	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2		NM_014991		30	214	0	0	0	0.013726	0	30	214		
HERC6	55008	broad.mit.edu	37	4	89352340	89352340	+	Silent	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:89352340T>A	ENST00000264346.7	+	17	2192	c.2133T>A	c.(2131-2133)ccT>ccA	p.P711P	HERC6_ENST00000380265.5_Silent_p.P675P	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	711	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		AAATTTGTCCTGAGTCTGGAG	0.373																																						uc011cdi.1		NaN																	0				lung(3)|ovary(1)|kidney(1)	5						c.(2131-2133)CCT>CCA		hect domain and RLD 6 isoform 1							145.0	150.0	149.0					4																	89352340		2091	4259	6350	SO:0001819	synonymous_variant	55008				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity	g.chr4:89352340T>A	AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.2133T>A	4.37:g.89352340T>A						HERC6_uc011cdj.1_Silent_p.P675P|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_RNA	p.P711P	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000222)	17	2316	+		Hepatocellular(203;0.114)	711			HECT.		B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Silent	SNP	ENST00000264346.7	37	c.2133T>A	CCDS47098.1																																																																																				0.373	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2				14	118	0	0	0	0.003163	0	14	118		
GPRIN3	285513	broad.mit.edu	37	4	90169257	90169257	+	Missense_Mutation	SNP	C	C	T	rs140505056		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:90169257C>T	ENST00000609438.1	-	2	2523	c.2005G>A	c.(2005-2007)Gca>Aca	p.A669T	GPRIN3_ENST00000333209.4_Missense_Mutation_p.A669T	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	669										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TTGGAGTCTGCGCCAAGCTGC	0.547																																						uc003hsm.1		NaN																	0				ovary(3)	3						c.(2005-2007)GCA>ACA		G protein-regulated inducer of neurite outgrowth							61.0	60.0	60.0					4																	90169257		2203	4300	6503	SO:0001583	missense	285513							g.chr4:90169257C>T	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.2005G>A	4.37:g.90169257C>T	ENSP00000476603:p.Ala669Thr						p.A669T	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	2524	-		Hepatocellular(203;0.114)	669					Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	37	c.2005G>A	CCDS34030.1	.	.	.	.	.	.	.	.	.	.	C	3.934	-0.015611	0.07681	.	.	ENSG00000185477	ENST00000333209	T	0.23147	1.92	5.0	-10.0	0.00425	.	0.577982	0.13094	N	0.414305	T	0.08626	0.0214	L	0.27053	0.805	0.09310	N	1	B	0.24132	0.098	B	0.14578	0.011	T	0.14727	-1.0462	10	0.22706	T	0.39	2.4962	0.1785	0.00121	0.3195:0.1763:0.2404:0.2637	.	669	Q6ZVF9	GRIN3_HUMAN	T	669	ENSP00000328672:A669T	ENSP00000328672:A669T	A	-	1	0	GPRIN3	90388280	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.357000	0.02607	-1.809000	0.01232	-1.045000	0.02358	GCA		0.547	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2		NM_198281		8	53	0	0	0	0.006214	0	8	53		
BBS7	55212	broad.mit.edu	37	4	122782704	122782704	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:122782704T>A	ENST00000264499.4	-	4	479	c.296A>T	c.(295-297)cAg>cTg	p.Q99L	BBS7_ENST00000506636.1_Missense_Mutation_p.Q99L	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	99					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GGAGAGGAACTGTTTTCCTCT	0.353									Bardet-Biedl syndrome																													uc003ied.2		NaN																	0				ovary(1)	1						c.(295-297)CAG>CTG		Bardet-Biedl syndrome 7 protein isoform a							92.0	93.0	92.0					4																	122782704		2203	4300	6503	SO:0001583	missense	55212	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding	g.chr4:122782704T>A	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.296A>T	4.37:g.122782704T>A	ENSP00000264499:p.Gln99Leu					BBS7_uc003iee.1_Missense_Mutation_p.Q99L|BBS7_uc010inq.1_Missense_Mutation_p.Q55L	p.Q99L	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN			4	470	-			99					Q4W5P8|Q8N581|Q9NVI4	Missense_Mutation	SNP	ENST00000264499.4	37	c.296A>T	CCDS3724.1	.	.	.	.	.	.	.	.	.	.	T	12.05	1.821553	0.32237	.	.	ENSG00000138686	ENST00000264499;ENST00000506636	D;D	0.92149	-2.98;-2.98	5.47	5.47	0.80525	WD40 repeat-like-containing domain (1);	0.114885	0.64402	D	0.000011	D	0.86661	0.5986	L	0.45470	1.425	0.47949	D	0.99955	B;B	0.15930	0.015;0.007	B;B	0.16289	0.015;0.015	T	0.79125	-0.1932	10	0.05959	T	0.93	-9.7168	11.5402	0.50661	0.0:0.0:0.1494:0.8506	.	99;99	Q8IWZ6-2;Q8IWZ6	.;BBS7_HUMAN	L	99	ENSP00000264499:Q99L;ENSP00000423626:Q99L	ENSP00000264499:Q99L	Q	-	2	0	BBS7	123002154	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.769000	0.62300	2.070000	0.61991	0.482000	0.46254	CAG		0.353	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1				14	57	0	0	0	0.006122	0	14	57		
KIAA1109	84162	broad.mit.edu	37	4	123122253	123122253	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:123122253C>T	ENST00000264501.4	+	15	1843	c.1470C>T	c.(1468-1470)ttC>ttT	p.F490F	KIAA1109_ENST00000455637.1_Silent_p.F490F|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Silent_p.F490F			Q2LD37	K1109_HUMAN	KIAA1109	490					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.F490F(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTTACCACTTCATCTTTGCAC	0.358																																						uc003ieh.2		NaN																	1	Substitution - coding silent(1)		prostate(1)	ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(1468-1470)TTC>TTT		fragile site-associated protein							74.0	68.0	70.0					4																	123122253		1861	4096	5957	SO:0001819	synonymous_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123122253C>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.1470C>T	4.37:g.123122253C>T						KIAA1109_uc003iei.1_Silent_p.F244F|KIAA1109_uc010ins.1_5'UTR	p.F490F	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			13	1515	+			490					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	c.1470C>T	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	C	9.346	1.064350	0.20067	.	.	ENSG00000138688	ENST00000424425	.	.	.	5.69	4.85	0.62838	.	.	.	.	.	T	0.60637	0.2284	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58875	-0.7559	4	.	.	.	.	9.8044	0.40783	0.0:0.7869:0.0:0.2131	.	.	.	.	Y	323	.	.	H	+	1	0	KIAA1109	123341703	0.998000	0.40836	1.000000	0.80357	0.988000	0.76386	0.657000	0.24963	1.410000	0.46936	0.655000	0.94253	CAT		0.358	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1		NM_020797		4	72	0	0	0	0.001168	0	4	72		
ADAD1	132612	broad.mit.edu	37	4	123317468	123317468	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:123317468A>G	ENST00000296513.2	+	7	845	c.660A>G	c.(658-660)ctA>ctG	p.L220L	ADAD1_ENST00000388725.2_Silent_p.L202L|ADAD1_ENST00000388724.2_Silent_p.L220L|ADAD1_ENST00000492454.1_3'UTR	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	220					multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTAATCAACTAATTTCTAATC	0.284																																						uc003ieo.2		NaN																	0					0						c.(658-660)CTA>CTG		adenosine deaminase domain containing 1							56.0	62.0	60.0					4																	123317468		2200	4291	6491	SO:0001819	synonymous_variant	132612				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	g.chr4:123317468A>G	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.660A>G	4.37:g.123317468A>G						ADAD1_uc003iep.2_Silent_p.L220L|ADAD1_uc003ieq.2_Silent_p.L202L	p.L220L	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN			7	892	+			220					A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Silent	SNP	ENST00000296513.2	37	c.660A>G	CCDS34058.1																																																																																				0.284	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1		NM_139243		8	61	0	0	0	0.008291	0	8	61		
LARP1B	55132	broad.mit.edu	37	4	129043216	129043216	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:129043216G>C	ENST00000326639.6	+	11	1608	c.1397G>C	c.(1396-1398)cGa>cCa	p.R466P	LARP1B_ENST00000264584.5_Missense_Mutation_p.R419P|LARP1B_ENST00000512292.1_Missense_Mutation_p.R466P|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000441387.1_Missense_Mutation_p.R466P|LARP1B_ENST00000427266.1_Missense_Mutation_p.R466P	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	466						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						GGAGGAGATCGAACAGGCACC	0.368																																						uc003iga.2		NaN																	0					0						c.(1396-1398)CGA>CCA		La ribonucleoprotein domain family member 2							113.0	106.0	108.0					4																	129043216		2203	4300	6503	SO:0001583	missense	55132						RNA binding	g.chr4:129043216G>C		CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"""La ribonucleoprotein domain containing"""	24704	protein-coding gene	gene with protein product			"""La ribonucleoprotein domain family, member 2"""	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.1397G>C	4.37:g.129043216G>C	ENSP00000321997:p.Arg466Pro					LARP1B_uc003igc.2_5'UTR|LARP1B_uc003ifz.1_Missense_Mutation_p.R466P|LARP1B_uc003igb.1_Missense_Mutation_p.R181P	p.R466P	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN			11	1528	+			466					Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP	ENST00000326639.6	37	c.1397G>C	CCDS3738.1	.	.	.	.	.	.	.	.	.	.	G	8.275	0.814234	0.16537	.	.	ENSG00000138709	ENST00000326639;ENST00000512292;ENST00000508819;ENST00000264584;ENST00000441387;ENST00000427266	T;T;T;T;T;T	0.56611	0.97;0.46;0.46;1.04;0.95;0.45	5.27	-1.84	0.07809	.	0.137393	0.49916	D	0.000121	T	0.50171	0.1600	M	0.86420	2.815	0.80722	D	1	B;B;B	0.31459	0.324;0.031;0.008	B;B;B	0.34722	0.188;0.03;0.008	T	0.32348	-0.9910	10	0.51188	T	0.08	.	3.2264	0.06734	0.3554:0.0989:0.4443:0.1014	.	419;466;466	D6RJB0;Q659C4;G3XAJ5	.;LAR1B_HUMAN;.	P	466;466;419;419;466;466	ENSP00000321997:R466P;ENSP00000422850:R466P;ENSP00000427281:R419P;ENSP00000264584:R419P;ENSP00000396521:R466P;ENSP00000403586:R466P	ENSP00000264584:R419P	R	+	2	0	LARP1B	129262666	1.000000	0.71417	0.134000	0.22075	0.052000	0.14988	1.711000	0.37930	-0.691000	0.05135	-0.142000	0.14014	CGA		0.368	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2		NM_018078		19	114	0	0	0	0.00278	0	19	114		
PCDH18	54510	broad.mit.edu	37	4	138452557	138452557	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:138452557G>A	ENST00000344876.4	-	1	1072	c.686C>T	c.(685-687)tCa>tTa	p.S229L	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.S229L|PCDH18_ENST00000507846.1_Missense_Mutation_p.S9L	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	229	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TAGTATGGATGAGCCAGACCT	0.463																																						uc003ihe.3		NaN																	0				pancreas(3)|skin(2)	5						c.(685-687)TCA>TTA		protocadherin 18 precursor							77.0	76.0	76.0					4																	138452557		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138452557G>A	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.686C>T	4.37:g.138452557G>A	ENSP00000355082:p.Ser229Leu					PCDH18_uc003ihf.3_Missense_Mutation_p.S222L|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.S9L|PCDH18_uc011cha.1_Intron	p.S229L	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN			1	1073	-	all_hematologic(180;0.24)		229			Extracellular (Potential).|Cadherin 2.		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.686C>T	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690524	0.88735	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.56444	0.68;0.68;0.46	5.7	5.7	0.88788	Cadherin (4);Cadherin-like (1);	0.000000	0.36555	U	0.002524	T	0.64821	0.2633	M	0.62088	1.915	0.80722	D	1	P;P;D	0.56968	0.919;0.94;0.978	P;P;P	0.51999	0.589;0.687;0.666	T	0.67764	-0.5586	10	0.87932	D	0	.	19.851	0.96740	0.0:0.0:1.0:0.0	.	9;229;229	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	L	229;229;9	ENSP00000355082:S229L;ENSP00000390688:S229L;ENSP00000425903:S9L	ENSP00000355082:S229L	S	-	2	0	PCDH18	138672007	1.000000	0.71417	0.967000	0.41034	0.881000	0.50899	7.944000	0.87722	2.687000	0.91594	0.557000	0.71058	TCA		0.463	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1		NM_019035		6	85	0	0	0	0.001168	0	6	85		
SFRP2	6423	broad.mit.edu	37	4	154709870	154709870	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:154709870A>T	ENST00000274063.4	-	1	402	c.118T>A	c.(118-120)Tgc>Agc	p.C40S		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	40	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				bone morphogenesis (GO:0060349)|brain development (GO:0007420)|cardiac left ventricle morphogenesis (GO:0003214)|cell-cell signaling (GO:0007267)|cellular response to extracellular stimulus (GO:0031668)|cellular response to X-ray (GO:0071481)|chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|embryonic digit morphogenesis (GO:0042733)|gonad development (GO:0008406)|hematopoietic stem cell proliferation (GO:0071425)|male gonad development (GO:0008584)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dermatome development (GO:0061185)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of gene expression (GO:0010629)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-anal tail morphogenesis (GO:0036342)|regulation of stem cell division (GO:2000035)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|sclerotome development (GO:0061056)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase activator activity (GO:0061133)|fibronectin binding (GO:0001968)|integrin binding (GO:0005178)|metalloenzyme activator activity (GO:0010577)|PDZ domain binding (GO:0030165)|receptor agonist activity (GO:0048018)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				ATGGGCTTGCAATTGCTGCGC	0.637																																						uc003inv.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(118-120)TGC>AGC		secreted frizzled-related protein 2 precursor							47.0	51.0	50.0					4																	154709870		2203	4299	6502	SO:0001583	missense	6423				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding	g.chr4:154709870A>T	AF017986	CCDS34082.1	4q31.3	2008-08-29			ENSG00000145423	ENSG00000145423		"""Secreted frizzled-related proteins"""	10777	protein-coding gene	gene with protein product		604157				9391078	Standard	NM_003013		Approved	SARP1, SDF-5, FRP-2	uc003inv.1	Q96HF1	OTTHUMG00000161559	ENST00000274063.4:c.118T>A	4.37:g.154709870A>T	ENSP00000274063:p.Cys40Ser						p.C40S	NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN			1	359	-	all_hematologic(180;0.093)	Renal(120;0.117)	40			FZ.		B3KQR2|O14778|Q9HAP5	Missense_Mutation	SNP	ENST00000274063.4	37	c.118T>A	CCDS34082.1	.	.	.	.	.	.	.	.	.	.	A	18.62	3.663968	0.67700	.	.	ENSG00000145423	ENST00000274063	D	0.87809	-2.3	4.48	4.48	0.54585	Frizzled domain (5);	0.127546	0.64402	D	0.000001	D	0.95133	0.8423	H	0.95437	3.67	0.80722	D	1	D	0.64830	0.994	D	0.72075	0.976	D	0.96443	0.9328	10	0.87932	D	0	.	14.0951	0.65016	1.0:0.0:0.0:0.0	.	40	Q96HF1	SFRP2_HUMAN	S	40	ENSP00000274063:C40S	ENSP00000274063:C40S	C	-	1	0	SFRP2	154929320	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	9.046000	0.93817	1.785000	0.52413	0.529000	0.55759	TGC		0.637	SFRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365296.1				8	108	0	0	0	0.001855	0	8	108		
FNIP2	57600	broad.mit.edu	37	4	159782529	159782529	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:159782529T>C	ENST00000264433.6	+	11	1259	c.1184T>C	c.(1183-1185)aTa>aCa	p.I395T	FNIP2_ENST00000379346.3_Missense_Mutation_p.I418T	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	395					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GTTCCAAGGATAGCTGAACCT	0.393																																						uc003iqe.3		NaN																	0					0						c.(1183-1185)ATA>ACA		folliculin interacting protein 2							62.0	56.0	58.0					4																	159782529		1833	4100	5933	SO:0001583	missense	57600				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	g.chr4:159782529T>C	AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 1"""	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.1184T>C	4.37:g.159782529T>C	ENSP00000264433:p.Ile395Thr						p.I395T	NM_020840	NP_065891	Q9P278	FNIP2_HUMAN		COAD - Colon adenocarcinoma(41;0.00936)	11	1367	+	all_hematologic(180;0.24)		395					Q05DC3|Q96I31|Q9H994	Missense_Mutation	SNP	ENST00000264433.6	37	c.1184T>C	CCDS47155.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.987640	0.74589	.	.	ENSG00000052795	ENST00000264433;ENST00000512986;ENST00000379346	T;T;T	0.33654	1.4;1.4;1.4	4.95	4.95	0.65309	.	.	.	.	.	T	0.55257	0.1909	M	0.61703	1.905	0.58432	D	0.99999	D	0.65815	0.995	D	0.66979	0.948	T	0.55127	-0.8189	8	.	.	.	.	14.9173	0.70807	0.0:0.0:0.0:1.0	.	395	Q9P278	FNIP2_HUMAN	T	395;418;418	ENSP00000264433:I395T;ENSP00000421488:I418T;ENSP00000368651:I418T	.	I	+	2	0	FNIP2	160001979	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	7.749000	0.85096	1.995000	0.58328	0.260000	0.18958	ATA		0.393	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1		NM_020840		3	38	0	0	0	0.004672	0	3	38		
SCRG1	11341	broad.mit.edu	37	4	174312370	174312370	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:174312370C>T	ENST00000296506.3	-	2	678	c.196G>A	c.(196-198)Gag>Aag	p.E66K		NM_007281.2	NP_009212.1	O75711	SCRG1_HUMAN	stimulator of chondrogenesis 1	66					nervous system development (GO:0007399)	extracellular space (GO:0005615)				large_intestine(1)|lung(4)|skin(1)	6		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919)		CAGATCATCTCACATCCCTTC	0.438																																						uc003ite.2		NaN																	0					0						c.(196-198)GAG>AAG		stimulator of chondrogenesis 1 precursor							202.0	183.0	189.0					4																	174312370		2203	4300	6503	SO:0001583	missense	11341				nervous system development	extracellular space		g.chr4:174312370C>T	AJ224677	CCDS3818.1	4q34.1	2009-07-09				ENSG00000164106			17036	protein-coding gene	gene with protein product	"""scrapie responsive gene 1"""	603163				9660755, 9516475	Standard	NM_007281		Approved	SCRG-1	uc003ite.3	O75711		ENST00000296506.3:c.196G>A	4.37:g.174312370C>T	ENSP00000296506:p.Glu66Lys					SCRG1_uc003itf.2_RNA	p.E66K	NM_007281	NP_009212	O75711	SCRG1_HUMAN		all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919)	2	609	-		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)	66						Missense_Mutation	SNP	ENST00000296506.3	37	c.196G>A	CCDS3818.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.940802	0.92526	.	.	ENSG00000164106	ENST00000296506	T	0.56103	0.48	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.75525	0.3861	.	.	.	0.48511	D	0.999662	D	0.89917	1.0	D	0.85130	0.997	T	0.79135	-0.1928	9	0.87932	D	0	-8.9481	18.9771	0.92742	0.0:1.0:0.0:0.0	.	66	O75711	SCRG1_HUMAN	K	66	ENSP00000296506:E66K	ENSP00000296506:E66K	E	-	1	0	SCRG1	174548945	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.822000	0.69265	2.478000	0.83669	0.650000	0.86243	GAG		0.438	SCRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364304.2		NM_007281		11	228	0	0	0	0.003163	0	11	228		
FAT1	2195	broad.mit.edu	37	4	187541336	187541336	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:187541336A>T	ENST00000441802.2	-	10	6613	c.6404T>A	c.(6403-6405)aTt>aAt	p.I2135N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2135	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTTCAGTGAAATTTCACCCAA	0.423										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NaN																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(6403-6405)ATT>AAT		FAT tumor suppressor 1 precursor							84.0	80.0	81.0					4																	187541336		1858	4113	5971	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187541336A>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.6404T>A	4.37:g.187541336A>T	ENSP00000406229:p.Ile2135Asn	HNSCC(5;0.00058)					p.I2135N	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	6592	-			2135			Extracellular (Potential).|Cadherin 19.			Missense_Mutation	SNP	ENST00000441802.2	37	c.6404T>A	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	A	17.37	3.371883	0.61624	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.70869	-0.52	5.05	5.05	0.67936	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.89546	0.6746	H	0.97315	3.98	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93160	0.6557	10	0.87932	D	0	.	14.9534	0.71091	1.0:0.0:0.0:0.0	.	2135	Q14517	FAT1_HUMAN	N	2135;2137	ENSP00000406229:I2135N	ENSP00000260147:I2137N	I	-	2	0	FAT1	187778330	1.000000	0.71417	0.930000	0.37139	0.760000	0.43138	9.139000	0.94554	2.116000	0.64780	0.533000	0.62120	ATT		0.423	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3		NM_005245		17	83	0	0	0	0.007413	0	17	83		
SLC9A3	6550	broad.mit.edu	37	5	482240	482240	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:482240C>T	ENST00000264938.3	-	8	1398	c.1389G>A	c.(1387-1389)ctG>ctA	p.L463L	CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000606288.1_RNA|SLC9A3_ENST00000514375.1_Silent_p.L454L|CTD-2228K2.7_ENST00000607005.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	463					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TCTTCACCTTCAGCCACTGCA	0.701																																						uc003jbe.2		NaN																	0					0						c.(1387-1389)CTG>CTA		solute carrier family 9 (sodium/hydrogen							34.0	34.0	34.0					5																	482240		2202	4300	6502	SO:0001819	synonymous_variant	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:482240C>T		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.1389G>A	5.37:g.482240C>T						SLC9A3_uc011clx.1_Silent_p.L454L	p.L463L	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		8	1501	-			463			Cytoplasmic (Potential).		B7ZKR2|E9PF67|Q3MIW3	Silent	SNP	ENST00000264938.3	37	c.1389G>A	CCDS3855.1																																																																																				0.701	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2		NM_004174		9	49	0	0	0	0.010729	0	9	49		
CLPTM1L	81037	broad.mit.edu	37	5	1338993	1338993	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:1338993A>T	ENST00000320895.5	-	4	838	c.581T>A	c.(580-582)gTg>gAg	p.V194E	CLPTM1L_ENST00000320927.6_Missense_Mutation_p.V194E|CLPTM1L_ENST00000507807.1_Missense_Mutation_p.V61E	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	194					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		GTACCGATGCACATCGGCAGG	0.647																																						uc003jch.2		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(580-582)GTG>GAG		CLPTM1-like							63.0	62.0	62.0					5																	1338993		2203	4300	6503	SO:0001583	missense	81037				apoptosis	integral to membrane		g.chr5:1338993A>T	AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"""cisplatin resistance related protein"""	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.581T>A	5.37:g.1338993A>T	ENSP00000313854:p.Val194Glu					CLPTM1L_uc003jcg.2_Missense_Mutation_p.V61E	p.V194E	NM_030782	NP_110409	Q96KA5	CLP1L_HUMAN	Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)	4	627	-	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		194			Extracellular (Potential).		D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Missense_Mutation	SNP	ENST00000320895.5	37	c.581T>A	CCDS3862.1	.	.	.	.	.	.	.	.	.	.	A	17.31	3.357586	0.61293	.	.	ENSG00000049656	ENST00000320895;ENST00000507807;ENST00000320927	T;T;T	0.50001	0.79;0.77;0.76	5.33	4.15	0.48705	.	0.000000	0.85682	D	0.000000	T	0.64416	0.2596	M	0.70275	2.135	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.65874	0.939;0.917	T	0.66180	-0.5988	10	0.59425	D	0.04	-31.5756	12.4305	0.55571	0.8595:0.1405:0.0:0.0	.	194;61	Q96KA5;G5E9Z2	CLP1L_HUMAN;.	E	194;61;194	ENSP00000313854:V194E;ENSP00000423321:V61E;ENSP00000315196:V194E	ENSP00000313854:V194E	V	-	2	0	CLPTM1L	1391993	1.000000	0.71417	0.948000	0.38648	0.354000	0.29330	8.698000	0.91311	0.844000	0.35094	0.533000	0.62120	GTG		0.647	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253649.2		NM_030782		21	139	0	0	0	0.00333	0	21	139		
ADCY2	108	broad.mit.edu	37	5	7817000	7817000	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:7817000C>T	ENST00000338316.4	+	23	2994	c.2905C>T	c.(2905-2907)Cac>Tac	p.H969Y	ADCY2_ENST00000537121.1_Missense_Mutation_p.H789Y	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	969					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GCAGTACATGCACATTGGCAC	0.517											OREG0016499	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003jdz.1		NaN																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(2905-2907)CAC>TAC		adenylate cyclase 2							183.0	147.0	159.0					5																	7817000		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7817000C>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2905C>T	5.37:g.7817000C>T	ENSP00000342952:p.His969Tyr		OREG0016499	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	644	ADCY2_uc011cmo.1_Missense_Mutation_p.H789Y|ADCY2_uc010itm.1_Missense_Mutation_p.H165Y	p.H969Y	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			23	2972	+			969			Cytoplasmic (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.2905C>T	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	C	31	5.078962	0.94050	.	.	ENSG00000078295	ENST00000338316;ENST00000382532;ENST00000541993;ENST00000537121	T;T	0.35605	1.3;1.3	5.42	5.42	0.78866	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.69788	0.3150	M	0.92026	3.265	0.80722	D	1	D;P	0.89917	1.0;0.85	D;P	0.83275	0.996;0.745	T	0.76364	-0.2986	10	0.59425	D	0.04	.	19.2167	0.93781	0.0:1.0:0.0:0.0	.	789;969	B7Z2C1;Q08462	.;ADCY2_HUMAN	Y	969;122;802;789	ENSP00000342952:H969Y;ENSP00000444803:H789Y	ENSP00000342952:H969Y	H	+	1	0	ADCY2	7870000	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.536000	0.82023	2.546000	0.85860	0.561000	0.74099	CAC		0.517	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2		NM_020546		20	91	0	0	0	0.010504	0	20	91		
DNAH5	1767	broad.mit.edu	37	5	13901509	13901509	+	Missense_Mutation	SNP	T	T	C	rs564653952		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:13901509T>C	ENST00000265104.4	-	14	2008	c.1904A>G	c.(1903-1905)cAt>cGt	p.H635R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	635	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTGAATCCTATGGAAGAGCTG	0.507									Kartagener syndrome																													uc003jfd.2		NaN																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(1903-1905)CAT>CGT		dynein, axonemal, heavy chain 5							55.0	54.0	54.0					5																	13901509		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13901509T>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.1904A>G	5.37:g.13901509T>C	ENSP00000265104:p.His635Arg						p.H635R	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			14	1946	-	Lung NSC(4;0.00476)		635			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.1904A>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	2.314	-0.357170	0.05138	.	.	ENSG00000039139	ENST00000265104	T	0.52754	0.65	5.55	3.14	0.36123	Dynein heavy chain, domain-1 (1);	0.554792	0.21722	N	0.070108	T	0.14485	0.0350	N	0.00885	-1.115	0.39178	D	0.962726	B	0.02656	0.0	B	0.04013	0.001	T	0.27365	-1.0076	10	0.02654	T	1	.	9.9507	0.41636	0.0:0.1405:0.0:0.8595	.	635	Q8TE73	DYH5_HUMAN	R	635	ENSP00000265104:H635R	ENSP00000265104:H635R	H	-	2	0	DNAH5	13954509	0.894000	0.30519	0.896000	0.35187	0.751000	0.42716	1.361000	0.34136	0.950000	0.37743	0.402000	0.26972	CAT		0.507	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2		NM_001369		6	39	0	0	0	0.00308	0	6	39		
KIF2A	3796	broad.mit.edu	37	5	61669661	61669661	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:61669661A>C	ENST00000401507.3	+	17	2105	c.1794A>C	c.(1792-1794)caA>caC	p.Q598H	KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000407818.3_Missense_Mutation_p.Q636H|KIF2A_ENST00000381103.2_Missense_Mutation_p.Q578H|KIF2A_ENST00000506857.1_Missense_Mutation_p.Q552H	NM_001243953.1|NM_004520.4	NP_001230882.1|NP_004511.2	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	598					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|nervous system development (GO:0007399)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		TTTGTGAACAAAATGTGAGTG	0.383																																						uc003jsy.3		NaN																	0					0						c.(1792-1794)CAA>CAC		kinesin heavy chain member 2 isoform 1							158.0	157.0	157.0					5																	61669661		2203	4300	6503	SO:0001583	missense	3796				blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding	g.chr5:61669661A>C	BC031828	CCDS3980.2, CCDS47216.1, CCDS58949.1	5q12-q13	2008-02-05	2006-09-26	2006-09-26	ENSG00000068796	ENSG00000068796		"""Kinesins"""	6318	protein-coding gene	gene with protein product		602591	"""kinesin heavy chain member 2"""	KIF2		9177777	Standard	NM_001098511		Approved	HK2	uc003jsz.4	O00139	OTTHUMG00000097755	ENST00000401507.3:c.1794A>C	5.37:g.61669661A>C	ENSP00000385622:p.Gln598His					KIF2A_uc003jsz.3_Missense_Mutation_p.Q636H|KIF2A_uc010iwp.2_Missense_Mutation_p.Q579H|KIF2A_uc003jsx.3_Missense_Mutation_p.Q578H|KIF2A_uc010iwq.2_Missense_Mutation_p.Q401H	p.Q598H	NM_004520	NP_004511	O00139	KIF2A_HUMAN		Lung(70;0.14)	17	2105	+		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)	598					A5YM42|A5YM54|B4DY54|D3DW97|E9PB70|Q7Z5I3|Q8N5Q7	Missense_Mutation	SNP	ENST00000401507.3	37	c.1794A>C	CCDS3980.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.54|14.54	2.566648|2.566648	0.45694|0.45694	.|.	.|.	ENSG00000068796|ENSG00000068796	ENST00000512006|ENST00000401507;ENST00000381103;ENST00000407818;ENST00000506857	.|T;T;T;T	.|0.74526	.|-0.71;-0.71;-0.85;-0.71	6.08|6.08	2.44|2.44	0.29823|0.29823	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.60064|0.60064	0.2240|0.2240	L|L	0.29908|0.29908	0.895|0.895	0.54753|0.54753	D|D	0.999983|0.999983	.|B;B;B;B	.|0.22683	.|0.043;0.072;0.073;0.023	.|B;B;B;B	.|0.27170	.|0.035;0.077;0.071;0.045	T|T	0.52895|0.52895	-0.8514|-0.8514	5|10	.|0.45353	.|T	.|0.12	.|.	7.059|7.059	0.25115|0.25115	0.745:0.1256:0.1294:0.0|0.745:0.1256:0.1294:0.0	.|.	.|636;636;598;578	.|B4DM85;O00139-4;O00139;E9PB70	.|.;.;KIF2A_HUMAN;.	T|H	106|598;578;636;552	.|ENSP00000385622:Q598H;ENSP00000370493:Q578H;ENSP00000385000:Q636H;ENSP00000423772:Q552H	.|ENSP00000370493:Q578H	K|Q	+|+	2|3	0|2	KIF2A|KIF2A	61705418|61705418	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.069000|4.069000	0.57541|0.57541	0.527000|0.527000	0.28560|0.28560	0.482000|0.482000	0.46254|0.46254	AAA|CAA		0.383	KIF2A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317989.1		NM_004520		13	74	0	0	0	0.004007	0	13	74		
MAST4	375449	broad.mit.edu	37	5	66440574	66440574	+	Silent	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:66440574C>A	ENST00000403625.2	+	22	3103	c.2808C>A	c.(2806-2808)acC>acA	p.T936T	MAST4_ENST00000261569.7_Silent_p.T742T|MAST4_ENST00000403666.1_Silent_p.T747T|MAST4_ENST00000404260.3_Silent_p.T939T|MAST4_ENST00000405643.1_Silent_p.T757T	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	939						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CCAAAAGCACCACCTTGCCAT	0.413																																						uc003jut.1		NaN																	0				lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13						c.(2239-2241)ACC>ACA		microtubule associated serine/threonine kinase							65.0	70.0	69.0					5																	66440574		1870	4119	5989	SO:0001819	synonymous_variant	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66440574C>A	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.2808C>A	5.37:g.66440574C>A						MAST4_uc003juu.1_Silent_p.T757T|MAST4_uc011cra.1_Silent_p.T730T|MAST4_uc003juv.2_Silent_p.T742T|MAST4_uc003juw.2_Silent_p.T742T	p.T747T	NM_015183	NP_055998	O15021	MAST4_HUMAN		Lung(70;0.011)	21	2309	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	939					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	37	c.2241C>A	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	c	6.382	0.438675	0.12104	.	.	ENSG00000069020	ENST00000443808	.	.	.	5.69	0.253	0.15551	.	.	.	.	.	T	0.32041	0.0816	.	.	.	0.21897	N	0.999483	.	.	.	.	.	.	T	0.27872	-1.0061	4	.	.	.	-2.8289	7.8701	0.29561	0.3842:0.4836:0.1322:0.0	.	.	.	.	N	60	.	.	H	+	1	0	MAST4	66476330	0.000000	0.05858	0.246000	0.24233	0.948000	0.59901	-1.140000	0.03210	0.100000	0.17581	-0.339000	0.08088	CAC		0.413	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2				4	26	1	0	0.00909568	0.009096	0.00921723	4	26		
HOMER1	9456	broad.mit.edu	37	5	78692703	78692703	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:78692703T>G	ENST00000334082.6	-	8	2261	c.819A>C	c.(817-819)gaA>gaC	p.E273D	HOMER1_ENST00000535690.1_Missense_Mutation_p.E99D|HOMER1_ENST00000508576.1_Intron|HOMER1_ENST00000282260.6_Missense_Mutation_p.E143D	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	273					behavioral response to cocaine (GO:0048148)|chemical homeostasis within a tissue (GO:0048875)|circadian rhythm (GO:0007623)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of signal transduction (GO:0009967)|protein localization to synapse (GO:0035418)|regulation of calcium ion import (GO:0090279)|regulation of cation channel activity (GO:2001257)|regulation of store-operated calcium entry (GO:2001256)|response to calcium ion (GO:0051592)|response to nicotine (GO:0035094)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell junction (GO:0030054)|costamere (GO:0043034)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|signaling adaptor activity (GO:0035591)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		CATTATCAATTTCTTGTTTTA	0.348																																						uc003kfy.2		NaN																	0					0						c.(817-819)GAA>GAC		homer 1							134.0	119.0	124.0					5																	78692703		1824	4085	5909	SO:0001583	missense	9456				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane		g.chr5:78692703T>G	BC015502	CCDS43335.1, CCDS64188.1, CCDS64189.1	5q14.2	2008-02-05			ENSG00000152413	ENSG00000152413			17512	protein-coding gene	gene with protein product		604798				9808459, 9808458	Standard	NM_004272		Approved	Ves-1, SYN47, HOMER-1B	uc003kfy.4	Q86YM7	OTTHUMG00000134278	ENST00000334082.6:c.819A>C	5.37:g.78692703T>G	ENSP00000334382:p.Glu273Asp					HOMER1_uc010jab.2_Intron|HOMER1_uc010jac.2_Missense_Mutation_p.E143D|HOMER1_uc010jad.2_Missense_Mutation_p.E99D	p.E273D	NM_004272	NP_004263	Q86YM7	HOME1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)	8	1922	-		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)	273			Potential.		B2R688|O96003|Q86YM5	Missense_Mutation	SNP	ENST00000334082.6	37	c.819A>C	CCDS43335.1	.	.	.	.	.	.	.	.	.	.	T	15.63	2.891765	0.52014	.	.	ENSG00000152413	ENST00000334082;ENST00000282260;ENST00000535690	T;T;T	0.78246	-1.16;3.07;-1.16	5.63	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.81616	0.4860	L	0.46157	1.445	0.54753	D	0.999987	D;P;P	0.67145	0.996;0.927;0.885	D;D;P	0.76071	0.987;0.953;0.519	T	0.80774	-0.1232	10	0.59425	D	0.04	-5.0376	6.9807	0.24702	0.0:0.0762:0.1514:0.7724	.	99;143;273	Q86YM6;Q86YM7-2;Q86YM7	.;.;HOME1_HUMAN	D	273;143;99	ENSP00000334382:E273D;ENSP00000282260:E143D;ENSP00000441587:E99D	ENSP00000282260:E143D	E	-	3	2	HOMER1	78728459	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.650000	0.46665	1.048000	0.40298	0.533000	0.62120	GAA		0.348	HOMER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258856.1		NM_004272		6	19	0	0	0	0.001984	0	6	19		
ANKRD34B	340120	broad.mit.edu	37	5	79855446	79855446	+	Silent	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:79855446T>C	ENST00000338682.3	-	5	1065	c.393A>G	c.(391-393)acA>acG	p.T131T		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	131						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		TCAGGGTCTCTGTATCTTCTG	0.438																																						uc010jam.2		NaN																	0				pancreas(1)	1						c.(391-393)ACA>ACG		ankyrin repeat domain 34B							135.0	139.0	138.0					5																	79855446		2203	4300	6503	SO:0001819	synonymous_variant	340120					cytoplasm|nucleus		g.chr5:79855446T>C		CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"""Ankyrin repeat domain containing"""	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.393A>G	5.37:g.79855446T>C						ANKRD34B_uc003kgw.2_Silent_p.T131T|ANKRD34B_uc010jan.2_Silent_p.T131T	p.T131T	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)	4	743	-		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)	131			ANK 4.		B2RPH1|Q68D79	Silent	SNP	ENST00000338682.3	37	c.393A>G	CCDS34194.1																																																																																				0.438	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369475.1		NM_001004441		23	131	0	0	0	0.003954	0	23	131		
VCAN	1462	broad.mit.edu	37	5	82832894	82832894	+	Missense_Mutation	SNP	A	A	G	rs142339468		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:82832894A>G	ENST00000265077.3	+	8	4637	c.4072A>G	c.(4072-4074)Agt>Ggt	p.S1358G	VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.S371G|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1358	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TGAACCTTGTAGTGAAGAAAC	0.338													A|||	1	0.000199681	0.0	0.0	5008	,	,		20249	0.0		0.001	False		,,,				2504	0.0					uc003kii.3		NaN																	0				ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(4072-4074)AGT>GGT		versican isoform 1 precursor		A	,GLY/SER,,GLY/SER	1,4405	2.1+/-5.4	0,1,2202	84.0	87.0	86.0		,1111,,4072	5.8	1.0	5	dbSNP_134	86	3,8597	3.0+/-9.4	0,3,4297	yes	intron,missense,intron,missense	VCAN	NM_001126336.2,NM_001164097.1,NM_001164098.1,NM_004385.4	,56,,56	0,4,6499	GG,GA,AA		0.0349,0.0227,0.0308	,probably-damaging,,probably-damaging	,371/2410,,1358/3397	82832894	4,13002	2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82832894A>G	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.4072A>G	5.37:g.82832894A>G	ENSP00000265077:p.Ser1358Gly					VCAN_uc003kij.3_Missense_Mutation_p.S371G|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.S22G	p.S1358G	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	4428	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	1358			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.4072A>G	CCDS4060.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	21.5	4.164389	0.78339	2.27E-4	3.49E-4	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.88201	-2.2;-2.35;2.72	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000001	D	0.92848	0.7725	M	0.72894	2.215	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.66196	0.942;0.913	D	0.92710	0.6182	10	0.49607	T	0.09	.	12.1275	0.53924	0.8571:0.1429:0.0:0.0	.	371;1358	P13611-2;P13611	.;CSPG2_HUMAN	G	1358;371;371	ENSP00000265077:S1358G;ENSP00000340062:S371G;ENSP00000426251:S371G	ENSP00000265077:S1358G	S	+	1	0	VCAN	82868650	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.191000	0.58372	2.237000	0.73441	0.528000	0.53228	AGT		0.338	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3		NM_004385		9	98	0	0	0	0.010729	0	9	98		
TTC37	9652	broad.mit.edu	37	5	94845328	94845328	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:94845328A>T	ENST00000358746.2	-	29	3282	c.2984T>A	c.(2983-2985)cTg>cAg	p.L995Q	TTC37_ENST00000515176.1_5'UTR	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	995						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TTCCTTTTTCAGTTGTAGATG	0.368																																						uc003klb.2		NaN																	0				ovary(3)|pancreas(1)	4						c.(2983-2985)CTG>CAG		tetratricopeptide repeat domain 37							117.0	113.0	114.0					5																	94845328		2203	4300	6503	SO:0001583	missense	9652						binding	g.chr5:94845328A>T	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.2984T>A	5.37:g.94845328A>T	ENSP00000351596:p.Leu995Gln						p.L995Q	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN			29	3254	-			995			TPR 16.		O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	c.2984T>A	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	A	17.00	3.277826	0.59758	.	.	ENSG00000198677	ENST00000358746	T	0.50813	0.73	5.45	5.45	0.79879	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.69513	0.3119	M	0.85945	2.785	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.68934	-0.5278	10	0.13470	T	0.59	.	15.8079	0.78531	1.0:0.0:0.0:0.0	.	995	Q6PGP7	TTC37_HUMAN	Q	995	ENSP00000351596:L995Q	ENSP00000351596:L995Q	L	-	2	0	TTC37	94871084	1.000000	0.71417	0.998000	0.56505	0.118000	0.20060	8.092000	0.89530	2.196000	0.70406	0.454000	0.30748	CTG		0.368	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1		NM_014639		6	49	0	0	0	0.00308	0	6	49		
CCNI2	645121	broad.mit.edu	37	5	132083140	132083140	+	5'UTR	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:132083140A>G	ENST00000378731.1	+	0	4					NM_001039780.2	NP_001034869.1	Q6ZMN8	CCNI2_HUMAN	cyclin I family, member 2						regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCTGGGTTATAAAATGCCGGG	0.701																																						uc003kxq.1		NaN																	0					0						c.(-49--45)ATAAA>ATGAA		cyclin I family, member 2							2.0	3.0	3.0					5																	132083140		1753	3728	5481	SO:0001623	5_prime_UTR_variant	645121				regulation of cyclin-dependent protein kinase activity		protein kinase binding	g.chr5:132083140A>G	BC132837	CCDS34236.1, CCDS75297.1	5q31.1	2014-07-03			ENSG00000205089	ENSG00000205089			33869	protein-coding gene	gene with protein product						23707792	Standard	NM_001287252		Approved	FLJ16793	uc003kxq.1	Q6ZMN8	OTTHUMG00000059737	ENST00000378731.1:c.-48A>G	5.37:g.132083140A>G						CCNI2_uc011cxg.1_Translation_Start_Site|CCNI2_uc011cxh.1_Translation_Start_Site		NM_001039780	NP_001034869	Q6ZMN8	CCNI2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		1	4	+								B2RNE2|B7ZMB7|B7ZMB8	Translation_Start_Site	SNP	ENST00000378731.1	37	c.-47A>G	CCDS34236.1																																																																																				0.701	CCNI2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132833.1		NM_001039780		2	5	0	0	0	0.004672	0	2	5		
AFF4	27125	broad.mit.edu	37	5	132228738	132228738	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:132228738G>C	ENST00000265343.5	-	12	2759	c.2380C>G	c.(2380-2382)Cca>Gca	p.P794A	AFF4_ENST00000378595.3_Missense_Mutation_p.P794A	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	794					spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGCTGGATGGCTTATGGCCT	0.423																																					Ovarian(126;889 1733 2942 10745 11605)	uc003kyd.2		NaN																	0				ovary(2)|kidney(2)|skin(1)	5						c.(2380-2382)CCA>GCA		ALL1 fused gene from 5q31							444.0	405.0	418.0					5																	132228738		2203	4300	6503	SO:0001583	missense	27125				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:132228738G>C	AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.2380C>G	5.37:g.132228738G>C	ENSP00000265343:p.Pro794Ala					AFF4_uc011cxk.1_Missense_Mutation_p.P472A|AFF4_uc003kye.1_Missense_Mutation_p.P794A	p.P794A	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		12	2788	-		all_cancers(142;0.145)|Breast(839;0.198)	794					B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	ENST00000265343.5	37	c.2380C>G	CCDS4164.1	.	.	.	.	.	.	.	.	.	.	G	9.666	1.145520	0.21288	.	.	ENSG00000072364	ENST00000265343;ENST00000378595	T;T	0.62105	0.05;0.05	4.91	0.504	0.16946	.	0.794655	0.11677	N	0.540187	T	0.45856	0.1363	L	0.29908	0.895	0.22880	N	0.998618	B;B	0.13145	0.004;0.007	B;B	0.17098	0.01;0.017	T	0.30060	-0.9991	10	0.25751	T	0.34	-0.9903	8.5178	0.33257	0.0:0.1183:0.2906:0.5911	.	794;794	Q9UHB7-2;Q9UHB7	.;AFF4_HUMAN	A	794	ENSP00000265343:P794A;ENSP00000367858:P794A	ENSP00000265343:P794A	P	-	1	0	AFF4	132256637	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	1.107000	0.31110	0.229000	0.21039	-0.217000	0.12591	CCA		0.423	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1		NM_014423		65	402	0	0	0	0.01441	0	65	402		
FSTL4	23105	broad.mit.edu	37	5	132552957	132552957	+	Silent	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:132552957G>T	ENST00000265342.7	-	13	1821	c.1572C>A	c.(1570-1572)gtC>gtA	p.V524V	CTB-49A3.2_ENST00000509051.1_RNA|CTB-49A3.2_ENST00000502776.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	524						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGACCACAAGGACTCTGCTCA	0.507																																						uc003kyn.1		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1570-1572)GTC>GTA		follistatin-like 4 precursor							142.0	137.0	139.0					5																	132552957		2203	4300	6503	SO:0001819	synonymous_variant	23105					extracellular region	calcium ion binding	g.chr5:132552957G>T	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.1572C>A	5.37:g.132552957G>T						FSTL4_uc003kym.1_Silent_p.V173V	p.V524V	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		13	1790	-		all_cancers(142;0.244)	524					Q8TBU0|Q9UPU1	Silent	SNP	ENST00000265342.7	37	c.1572C>A	CCDS34238.1																																																																																				0.507	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1		XM_048786		19	102	1	0	2.79863e-10	0.004656	3.061e-10	19	102		
ANKHD1	54882	broad.mit.edu	37	5	139917005	139917005	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:139917005A>G	ENST00000360839.2	+	31	7213	c.7059A>G	c.(7057-7059)ccA>ccG	p.P2353P	ANKHD1_ENST00000544120.1_Silent_p.P677P|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.P2353P|ANKHD1_ENST00000297183.6_Silent_p.P2353P	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	2353						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCCAACCAAAAGGAGTCA	0.522																																						uc003lfs.1		NaN																	0				ovary(6)	6						c.(7057-7059)CCA>CCG		ANKHD1-EIF4EBP3 protein							95.0	92.0	93.0					5																	139917005		2203	4300	6503	SO:0001819	synonymous_variant	404734					cytoplasm|nucleus	RNA binding	g.chr5:139917005A>G	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.7059A>G	5.37:g.139917005A>G						ANKHD1_uc003lfr.2_Silent_p.P2353P|ANKHD1-EIF4EBP3_uc011czh.1_Silent_p.P1109P|ANKHD1_uc003lfw.2_Silent_p.P1008P|ANKHD1_uc010jfl.2_Silent_p.P729P|ANKHD1-EIF4EBP3_uc003lfx.1_Silent_p.P507P	p.P2353P	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		31	7183	+			2353					A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Silent	SNP	ENST00000360839.2	37	c.7059A>G	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.00|10.00	1.233320|1.233320	0.22626|0.22626	.|.	.|.	ENSG00000131503|ENSG00000131503	ENST00000435794;ENST00000432301|ENST00000421706	.|.	.|.	.|.	5.78|5.78	1.73|1.73	0.24493|0.24493	.|.	.|.	.|.	.|.	.|.	T|T	0.52500|0.52500	0.1738|0.1738	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.41574|0.41574	-0.9501|-0.9501	4|4	.|.	.|.	.|.	.|.	5.9848|5.9848	0.19428|0.19428	0.6068:0.2594:0.1338:0.0|0.6068:0.2594:0.1338:0.0	.|.	.|.	.|.	.|.	E|R	844;745|11	.|.	.|.	K|Q	+|+	1|2	0|0	ANKHD1|ANKHD1	139897189|139897189	0.931000|0.931000	0.31567|0.31567	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	0.129000|0.129000	0.15830|0.15830	0.505000|0.505000	0.28104|0.28104	0.482000|0.482000	0.46254|0.46254	AAA|CAA		0.522	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1		NM_017747		35	149	0	0	0	0.006999	0	35	149		
PCDHA10	56139	broad.mit.edu	37	5	140236270	140236270	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:140236270G>A	ENST00000307360.5	+	1	637	c.637G>A	c.(637-639)Gca>Aca	p.A213T	PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A213T|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	213	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTGTTGACAGCAACTGATGG	0.423																																						uc003lhx.2		NaN																	0				ovary(2)|skin(2)|breast(1)	5						c.(637-639)GCA>ACA		protocadherin alpha 10 isoform 1 precursor							102.0	99.0	100.0					5																	140236270		2196	4271	6467	SO:0001583	missense	56139				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140236270G>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.637G>A	5.37:g.140236270G>A	ENSP00000304234:p.Ala213Thr					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.A213T|PCDHA10_uc011dad.1_Missense_Mutation_p.A213T	p.A213T	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	637	+			213			Extracellular (Potential).|Cadherin 2.		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.637G>A	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.330484	0.81690	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.36878	1.23;1.23	4.45	4.45	0.53987	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.79678	0.4487	H	0.99884	4.89	0.41423	D	0.987815	D;D;D	0.89917	0.999;0.993;1.0	D;P;D	0.87578	0.993;0.901;0.998	D	0.90374	0.4383	9	0.87932	D	0	.	17.6363	0.88123	0.0:0.0:1.0:0.0	.	213;213;213	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	T	213	ENSP00000421030:A213T;ENSP00000304234:A213T	ENSP00000304234:A213T	A	+	1	0	PCDHA10	140216454	1.000000	0.71417	0.779000	0.31741	0.851000	0.48451	9.356000	0.97091	2.461000	0.83175	0.561000	0.74099	GCA		0.423	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2		NM_018901		21	143	0	0	0	0.00333	0	21	143		
PCDHB7	56129	broad.mit.edu	37	5	140552984	140552984	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:140552984A>G	ENST00000231137.3	+	1	742	c.568A>G	c.(568-570)Atc>Gtc	p.I190V		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	190	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGGGGAATATCTATCCCGA	0.488																																						uc003lit.2		NaN																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(568-570)ATC>GTC		protocadherin beta 7 precursor							68.0	65.0	66.0					5																	140552984		2203	4300	6503	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140552984A>G	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.568A>G	5.37:g.140552984A>G	ENSP00000231137:p.Ile190Val						p.I190V	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	742	+			190			Extracellular (Potential).|Cadherin 2.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.568A>G	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	A	2.836	-0.241562	0.05906	.	.	ENSG00000113212	ENST00000231137	T	0.19532	2.14	4.61	-3.85	0.04243	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.11707	0.0285	N	0.20401	0.57	0.09310	N	1	B	0.10296	0.003	B	0.20577	0.03	T	0.32981	-0.9886	9	0.59425	D	0.04	.	6.2546	0.20867	0.5458:0.1247:0.3296:0.0	.	190	Q9Y5E2	PCDB7_HUMAN	V	190	ENSP00000231137:I190V	ENSP00000231137:I190V	I	+	1	0	PCDHB7	140533168	0.001000	0.12720	0.000000	0.03702	0.142000	0.21351	1.266000	0.33039	-0.888000	0.03956	-0.250000	0.11733	ATC		0.488	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2		NM_018940		16	66	0	0	0	0.007413	0	16	66		
PCDHGA7	56108	broad.mit.edu	37	5	140764040	140764040	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:140764040T>A	ENST00000518325.1	+	1	1574	c.1574T>A	c.(1573-1575)tTg>tAg	p.L525*	PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	525	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATGAGCAGTTGAGAGAACTA	0.532																																						uc003lka.1		NaN																	0					0						c.(1573-1575)TTG>TAG		protocadherin gamma subfamily A, 7 isoform 1							57.0	64.0	61.0					5																	140764040		2152	4282	6434	SO:0001587	stop_gained	56108				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140764040T>A	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.1574T>A	5.37:g.140764040T>A	ENSP00000430024:p.Leu525*					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Nonsense_Mutation_p.L525*	p.L525*	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1574	+			525			Extracellular (Potential).|Cadherin 5.		B2RN87|Q9Y5D0	Nonsense_Mutation	SNP	ENST00000518325.1	37	c.1574T>A	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	16.04	3.010997	0.54361	.	.	ENSG00000253537	ENST00000518325	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7908	0.40704	0.1537:0.0:0.0:0.8463	.	.	.	.	X	525	.	ENSP00000430024:L525X	L	+	2	0	PCDHGA7	140744224	0.007000	0.16637	0.509000	0.27700	0.011000	0.07611	1.743000	0.38258	2.101000	0.63845	0.528000	0.53228	TTG		0.532	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1		NM_018920		5	67	0	0	0	0.000602	0	5	67		
CSNK1A1	1452	broad.mit.edu	37	5	148929685	148929685	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:148929685G>T	ENST00000377843.2	-	2	662	c.183C>A	c.(181-183)agC>agA	p.S61R	CSNK1A1_ENST00000515768.1_Missense_Mutation_p.S61R|CSNK1A1_ENST00000261798.5_Missense_Mutation_p.S61R|CSNK1A1_ENST00000515435.1_5'UTR|CSNK1A1_ENST00000515748.2_Missense_Mutation_p.S61R|CSNK1A1_ENST00000504676.1_5'UTR	NM_001025105.1|NM_001892.4	NP_001020276.1|NP_001883.4	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	61	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		TATAGAGCTTGCTCTCGTACA	0.542																																					Colon(5;64 69 1309 10383)	uc003lqx.1		NaN																	0				breast(1)	1						c.(181-183)AGC>AGA		casein kinase 1, alpha 1 isoform 2							122.0	129.0	127.0					5																	148929685		2190	4296	6486	SO:0001583	missense	1452				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein binding|protein serine/threonine kinase activity	g.chr5:148929685G>T	AF119911	CCDS47303.1, CCDS47304.1, CCDS64291.1	5q32	2013-01-17			ENSG00000113712	ENSG00000113712			2451	protein-coding gene	gene with protein product	"""clock regulator kinase"""	600505				8050587	Standard	NM_001025105		Approved	CK1, CK1a, CK1alpha, CKIa, CKIalpha	uc003lqw.2	P48729	OTTHUMG00000163463	ENST00000377843.2:c.183C>A	5.37:g.148929685G>T	ENSP00000367074:p.Ser61Arg					CSNK1A1_uc011dcc.1_5'UTR|CSNK1A1_uc003lqv.1_5'UTR|CSNK1A1_uc003lqw.1_Missense_Mutation_p.S61R|CSNK1A1_uc003lqy.1_Missense_Mutation_p.S61R|CSNK1A1_uc010jha.1_Missense_Mutation_p.S61R	p.S61R	NM_001892	NP_001883	P48729	KC1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)	2	663	-			61			Protein kinase.		D3DQG0|D3DQG1|Q4JJA0|Q5U046|Q5U047|Q6FGA2|Q71TU5|Q96HD2|Q9UDK3	Missense_Mutation	SNP	ENST00000377843.2	37	c.183C>A	CCDS47303.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.773683	0.69992	.	.	ENSG00000113712	ENST00000261798;ENST00000377843;ENST00000322237;ENST00000515768;ENST00000515748	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	5.62	2.89	0.33648	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	U	0.000000	T	0.44180	0.1281	M	0.86740	2.835	0.53688	D	0.99997	B;P;P	0.52061	0.079;0.95;0.9	B;P;P	0.59288	0.129;0.855;0.578	T	0.48031	-0.9070	10	0.87932	D	0	.	10.0966	0.42480	0.2133:0.0:0.7867:0.0	.	61;61;61	Q71TU5;P48729;P48729-2	.;KC1A_HUMAN;.	R	61	ENSP00000261798:S61R;ENSP00000367074:S61R;ENSP00000421689:S61R;ENSP00000421268:S61R	ENSP00000261798:S61R	S	-	3	2	CSNK1A1	148909878	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.609000	0.61148	0.742000	0.32697	0.561000	0.74099	AGC		0.542	CSNK1A1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_001892		14	167	1	0	6.94344e-10	0.006122	7.54002e-10	14	167		
RMND5B	64777	broad.mit.edu	37	5	177573138	177573138	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:177573138C>T	ENST00000515098.1	+	9	1069	c.718C>T	c.(718-720)Ctg>Ttg	p.L240L	RMND5B_ENST00000313386.4_Silent_p.L240L|RMND5B_ENST00000542098.1_Silent_p.L227L			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	240										endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATGGGCAGCCTGGTGTACCT	0.642											OREG0017097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003mim.2		NaN																	0				ovary(1)|skin(1)	2						c.(718-720)CTG>TTG		required for meiotic nuclear division 5 homolog							49.0	46.0	47.0					5																	177573138		2203	4300	6503	SO:0001819	synonymous_variant	64777							g.chr5:177573138C>T	BC009911	CCDS4431.1, CCDS75382.1	5q35.3	2012-07-20			ENSG00000145916	ENSG00000145916			26181	protein-coding gene	gene with protein product	"""GID complex subunit 2 homolog B"""					12975309	Standard	NM_022762		Approved	FLJ22318, GID2, GID2B	uc003mim.3	Q96G75	OTTHUMG00000130897	ENST00000515098.1:c.718C>T	5.37:g.177573138C>T			OREG0017097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1939	RMND5B_uc003min.2_Silent_p.L240L|RMND5B_uc003mio.2_Silent_p.L227L|RMND5B_uc003mip.2_Silent_p.L240L|RMND5B_uc011dgf.1_Silent_p.L281L|RMND5B_uc003miq.2_Silent_p.L180L	p.L240L	NM_022762	NP_073599	Q96G75	RMD5B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	898	+	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	240					Q1HE27|Q6UVY7|Q9H6F6	Silent	SNP	ENST00000515098.1	37	c.718C>T	CCDS4431.1																																																																																				0.642	RMND5B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373542.1		NM_022762		7	48	0	0	0	0.006214	0	7	48		
PHYKPL	85007	broad.mit.edu	37	5	177640080	177640080	+	Silent	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:177640080C>G	ENST00000308158.5	-	11	1431	c.1197G>C	c.(1195-1197)ctG>ctC	p.L399L	PHYKPL_ENST00000481811.1_5'UTR	NM_153373.2	NP_699204.1	Q8IUZ5	AT2L2_HUMAN	5-phosphohydroxy-L-lysine phospho-lyase	399						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)									L-Alanine(DB00160)	CATCAGTGCTCAGCAAAACGT	0.567																																						uc003miz.2		NaN																	0				pancreas(1)	1						c.(1195-1197)CTG>CTC		alanine-glyoxylate aminotransferase 2-like 2	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						165.0	130.0	142.0					5																	177640080		2203	4300	6503	SO:0001819	synonymous_variant	85007					mitochondrion	pyridoxal phosphate binding|transaminase activity	g.chr5:177640080C>G	BC037567	CCDS4434.1	5q35.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000175309	ENSG00000175309	4.2.3.134		28249	protein-coding gene	gene with protein product	"""5-phosphonooxy-L-lysine phospho-lyase"""	614683	"""alanine-glyoxylate aminotransferase 2-like 2"""	AGXT2L2		22241472	Standard	NM_153373		Approved	MGC15875	uc003miz.3	Q8IUZ5	OTTHUMG00000130892	ENST00000308158.5:c.1197G>C	5.37:g.177640080C>G						AGXT2L2_uc003miy.2_Silent_p.L124L|AGXT2L2_uc003mjc.2_Silent_p.L358L|AGXT2L2_uc003mja.2_Intron|AGXT2L2_uc003mjb.2_Silent_p.L124L|AGXT2L2_uc003mjd.1_Silent_p.L257L	p.L399L	NM_153373	NP_699204	Q8IUZ5	AT2L2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.181)|all cancers(165;0.235)	11	1449	-	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	399					A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	Silent	SNP	ENST00000308158.5	37	c.1197G>C	CCDS4434.1																																																																																				0.567	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253477.1		NM_032921		7	101	0	0	0	0.008291	0	7	101		
ADAMTS2	9509	broad.mit.edu	37	5	178552080	178552080	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:178552080G>T	ENST00000251582.7	-	19	2953	c.2852C>A	c.(2851-2853)aCc>aAc	p.T951N		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	951	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CACGGAGCGGGTGGTGTTGTC	0.697																																						uc003mjw.2		NaN																	0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(2851-2853)ACC>AAC		ADAM metallopeptidase with thrombospondin type 1							111.0	112.0	112.0					5																	178552080		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178552080G>T	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2852C>A	5.37:g.178552080G>T	ENSP00000251582:p.Thr951Asn						p.T951N	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	19	2852	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	951			TSP type-1 3.			Missense_Mutation	SNP	ENST00000251582.7	37	c.2852C>A	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	G	0.966	-0.701639	0.03255	.	.	ENSG00000087116	ENST00000251582	T	0.52295	0.67	5.31	4.35	0.52113	.	0.206674	0.32687	N	0.005762	T	0.19525	0.0469	N	0.02665	-0.54	0.80722	D	1	B	0.13145	0.007	B	0.14578	0.011	T	0.08186	-1.0734	10	0.07813	T	0.8	.	10.4047	0.44249	0.0:0.0:0.4306:0.5694	.	951	O95450	ATS2_HUMAN	N	951	ENSP00000251582:T951N	ENSP00000251582:T951N	T	-	2	0	ADAMTS2	178484686	0.997000	0.39634	0.997000	0.53966	0.277000	0.26821	2.339000	0.43965	1.145000	0.42336	0.655000	0.94253	ACC		0.697	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1		NM_014244		38	220	1	0	4.06502e-11	0.013114	4.45683e-11	38	220		
DSP	1832	broad.mit.edu	37	6	7586077	7586077	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:7586077C>A	ENST00000379802.3	+	24	8923	c.8582C>A	c.(8581-8583)tCc>tAc	p.S2861Y	DSP_ENST00000418664.2_Missense_Mutation_p.S2262Y	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2861	Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TACTCTTATTCCTACTCATTT	0.483																																						uc003mxp.1		NaN																	0				central_nervous_system(6)|ovary(2)|skin(1)	9						c.(8581-8583)TCC>TAC		desmoplakin isoform I							87.0	97.0	94.0					6																	7586077		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7586077C>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.8582C>A	6.37:g.7586077C>A	ENSP00000369129:p.Ser2861Tyr					DSP_uc003mxq.1_Missense_Mutation_p.S2262Y	p.S2861Y	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	8861	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2861			Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.8582C>A	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.451017	0.63290	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.76060	-0.7;-0.99	4.87	3.99	0.46301	.	0.110656	0.41001	D	0.000971	T	0.61689	0.2367	L	0.50333	1.59	0.27349	N	0.956286	P;P	0.48407	0.894;0.91	P;P	0.45037	0.467;0.451	T	0.60424	-0.7266	10	0.87932	D	0	.	15.4049	0.74868	0.0:0.86:0.14:0.0	.	2309;2861	Q4LE79;P15924	.;DESP_HUMAN	Y	2861;2262	ENSP00000369129:S2861Y;ENSP00000396591:S2262Y	ENSP00000369129:S2861Y	S	+	2	0	DSP	7531076	0.806000	0.28996	0.998000	0.56505	0.938000	0.57974	1.711000	0.37930	1.162000	0.42619	0.655000	0.94253	TCC		0.483	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2		NM_004415		13	172	1	0	5.3912e-06	0.006122	5.67824e-06	13	172		
SNRNP48	154007	broad.mit.edu	37	6	7602960	7602960	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:7602960A>G	ENST00000342415.5	+	6	759	c.700A>G	c.(700-702)Aag>Gag	p.K234E		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	234					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TCACATAACCAAGAAATCATA	0.333																																						uc003mxr.2		NaN																	0					0						c.(700-702)AAG>GAG		U11/U12 snRNP 48K							68.0	72.0	71.0					6																	7602960		2203	4300	6503	SO:0001583	missense	154007				mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding	g.chr6:7602960A>G	AK056796	CCDS4502.1	6p24.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000168566	ENSG00000168566			21368	protein-coding gene	gene with protein product	"""U11/U12 snRNP 48K"""		"""chromosome 6 open reading frame 151"""	C6orf151		15146077	Standard	XR_427825		Approved	FLJ32234, dJ512B11.2, dJ336K20B.1	uc003mxr.3	Q6IEG0	OTTHUMG00000014213	ENST00000342415.5:c.700A>G	6.37:g.7602960A>G	ENSP00000339834:p.Lys234Glu					SNRNP48_uc003mxs.2_RNA|SNRNP48_uc003mxt.1_5'UTR	p.K234E	NM_152551	NP_689764	Q6IEG0	SNR48_HUMAN			6	759	+			234					A8K8P4|Q14C91|Q5T339|Q5THM1|Q5THM2|Q96MK1	Missense_Mutation	SNP	ENST00000342415.5	37	c.700A>G	CCDS4502.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.194676	0.78902	.	.	ENSG00000168566	ENST00000342415	T	0.46063	0.88	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.56470	0.1987	M	0.81341	2.54	0.50171	D	0.999855	D	0.69078	0.997	D	0.75020	0.985	T	0.64236	-0.6455	10	0.87932	D	0	-19.9484	12.1535	0.54064	1.0:0.0:0.0:0.0	.	234	Q6IEG0	SNR48_HUMAN	E	234	ENSP00000339834:K234E	ENSP00000339834:K234E	K	+	1	0	SNRNP48	7547959	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	8.306000	0.89962	1.960000	0.56953	0.460000	0.39030	AAG		0.333	SNRNP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039787.3		NM_152551		6	47	0	0	0	0.00308	0	6	47		
SLC35B3	51000	broad.mit.edu	37	6	8422784	8422784	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:8422784C>A	ENST00000379660.4	-	5	942	c.493G>T	c.(493-495)Ggc>Tgc	p.G165C	SLC35B3_ENST00000339306.5_Missense_Mutation_p.G165C	NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	Q9H1N7	S35B3_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3	165					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					TTCAGGTAGCCCAAGGAAGTG	0.358																																					Melanoma(83;700 1353 9357 11478 30548)	uc010joe.2		NaN																	0					0						c.(493-495)GGC>TGC		solute carrier family 35, member B3							112.0	107.0	109.0					6																	8422784		2203	4300	6503	SO:0001583	missense	51000				transmembrane transport	Golgi membrane|integral to membrane		g.chr6:8422784C>A	AF132953	CCDS4508.1	6p24.3	2013-07-17	2013-07-17	2003-09-10	ENSG00000124786	ENSG00000124786		"""Solute carriers"""	21601	protein-coding gene	gene with protein product	"""3' phosphoadenosine 5' phosphosulfate transporter 2"""	610845	"""chromosome 6 open reading frame 196"", ""solute carrier family 35, member B3"""	C6orf196		10810093	Standard	XM_005249156		Approved	CGI-19, dJ453H5.1, PAPST2	uc010joe.3	Q9H1N7	OTTHUMG00000014224	ENST00000379660.4:c.493G>T	6.37:g.8422784C>A	ENSP00000368981:p.Gly165Cys					SLC35B3_uc003mya.2_Missense_Mutation_p.G133C|SLC35B3_uc003myc.2_Intron|SLC35B3_uc003myb.2_Missense_Mutation_p.G165C|SLC35B3_uc011did.1_Missense_Mutation_p.G165C|SLC35B3_uc003myd.2_RNA	p.G165C	NM_001142541	NP_001136013	Q9H1N7	S35B3_HUMAN			5	659	-	Ovarian(93;0.0569)		165			Helical; (Potential).		A6NKX9|Q1XH11|Q6MZJ0|Q7Z662|Q9Y308	Missense_Mutation	SNP	ENST00000379660.4	37	c.493G>T	CCDS4508.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617687	0.87359	.	.	ENSG00000124786	ENST00000379660;ENST00000339306	T;T	0.31510	1.49;1.49	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.53867	0.1823	M	0.83852	2.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.58160	-0.7685	9	.	.	.	-8.8743	18.7109	0.91656	0.0:1.0:0.0:0.0	.	165;165	Q9H1N7;B2R8V5	S35B3_HUMAN;.	C	165	ENSP00000368981:G165C;ENSP00000345902:G165C	.	G	-	1	0	SLC35B3	8367783	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.643000	0.83403	2.498000	0.84270	0.585000	0.79938	GGC		0.358	SLC35B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039802.1		NM_015948		16	66	1	0	4.35082e-09	0.010504	4.67996e-09	16	66		
HIST1H4I	8294	broad.mit.edu	37	6	27107349	27107349	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:27107349G>T	ENST00000354348.2	+	1	274	c.262G>T	c.(262-264)Gtc>Ttc	p.V88F	HIST1H2BK_ENST00000396891.4_Intron	NM_003495.2	NP_003486.1	P62805	H4_HUMAN	histone cluster 1, H4i	88					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			lung(1)	1						CATGGACGTGGTCTACGCGCT	0.602			T	BCL6	NHL																																	uc003niy.1		NaN		Dom	yes		6	6p21.3	8294	T	"""histone 1, H4i (H4FM)"""			L	BCL6		NHL		0				lung(1)	1						c.(262-264)GTC>TTC		histone cluster 1, H4i							68.0	64.0	65.0					6																	27107349		2203	4300	6503	SO:0001583	missense	8294				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27107349G>T	AB000905	CCDS4620.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198339	ENSG00000276180		"""Histones / Replication-dependent"""	4793	protein-coding gene	gene with protein product		602833	"""H4 histone family, member M"", ""histone 1, H4i"""	H4FM		8988030, 9439656, 12408966	Standard	NM_003495		Approved	H4/m	uc003niy.1	P62805	OTTHUMG00000014471	ENST00000354348.2:c.262G>T	6.37:g.27107349G>T	ENSP00000346316:p.Val88Phe					HIST1H2BK_uc003nix.1_Intron	p.V88F	NM_003495	NP_003486	P62805	H4_HUMAN			1	262	+			88					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000354348.2	37	c.262G>T	CCDS4620.1	.	.	.	.	.	.	.	.	.	.	.	20.2	3.955608	0.73902	.	.	ENSG00000198339	ENST00000354348	T	0.68765	-0.35	3.8	3.8	0.43715	.	0.000000	0.36444	U	0.002584	D	0.83718	0.5315	H	0.95224	3.64	0.58432	D	0.999991	.	.	.	.	.	.	D	0.88567	0.3127	8	0.87932	D	0	.	13.9996	0.64424	0.0:0.0:1.0:0.0	.	.	.	.	F	88	ENSP00000346316:V88F	ENSP00000346316:V88F	V	+	1	0	HIST1H4I	27215328	1.000000	0.71417	1.000000	0.80357	0.276000	0.26787	7.067000	0.76741	2.068000	0.61886	0.655000	0.94253	GTC		0.602	HIST1H4I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040139.1		NM_003495		10	88	1	0	1.05317e-09	0.00245	1.14093e-09	10	88		
PGBD1	84547	broad.mit.edu	37	6	28269267	28269267	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:28269267G>A	ENST00000405948.2	+	7	2056	c.1636G>A	c.(1636-1638)Gat>Aat	p.D546N	PGBD1_ENST00000259883.3_Missense_Mutation_p.D546N	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	546						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CTATTGCTTTGATAAGTCAAT	0.348																																						uc003nky.2		NaN																	0				ovary(4)	4						c.(1636-1638)GAT>AAT		piggyBac transposable element derived 1							86.0	89.0	88.0					6																	28269267		2203	4300	6503	SO:0001583	missense	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28269267G>A	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.1636G>A	6.37:g.28269267G>A	ENSP00000385213:p.Asp546Asn					PGBD1_uc003nkz.2_Missense_Mutation_p.D546N	p.D546N	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN			7	2006	+			546					Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	c.1636G>A	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.290758	0.59976	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.26223	1.75;1.75	4.66	4.66	0.58398	.	0.089836	0.38837	N	0.001554	T	0.34366	0.0895	M	0.69358	2.11	0.37364	D	0.911339	P	0.50617	0.937	P	0.59546	0.859	T	0.06006	-1.0851	10	0.49607	T	0.09	-13.4329	13.256	0.60079	0.0:0.0:1.0:0.0	.	546	Q96JS3	PGBD1_HUMAN	N	546	ENSP00000385213:D546N;ENSP00000259883:D546N	ENSP00000259883:D546N	D	+	1	0	PGBD1	28377246	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.268000	0.65536	2.581000	0.87130	0.655000	0.94253	GAT		0.348	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2				17	144	0	0	0	0.006122	0	17	144		
PGBD1	84547	broad.mit.edu	37	6	28269301	28269301	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:28269301A>G	ENST00000405948.2	+	7	2090	c.1670A>G	c.(1669-1671)cAa>cGa	p.Q557R	PGBD1_ENST00000259883.3_Missense_Mutation_p.Q557R	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	557						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GATAGTGACCAATTCCTGAAT	0.363																																						uc003nky.2		NaN																	0				ovary(4)	4						c.(1669-1671)CAA>CGA		piggyBac transposable element derived 1							81.0	82.0	82.0					6																	28269301		2203	4300	6503	SO:0001583	missense	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28269301A>G	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.1670A>G	6.37:g.28269301A>G	ENSP00000385213:p.Gln557Arg					PGBD1_uc003nkz.2_Missense_Mutation_p.Q557R	p.Q557R	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN			7	2040	+			557					Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	c.1670A>G	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	A	16.11	3.030977	0.54790	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.21734	1.99;1.99	4.66	4.66	0.58398	.	0.000000	0.52532	D	0.000062	T	0.24275	0.0588	L	0.54323	1.7	0.33258	D	0.559326	P	0.50943	0.94	P	0.61132	0.884	T	0.03555	-1.1025	10	0.52906	T	0.07	-21.5881	10.6791	0.45804	1.0:0.0:0.0:0.0	.	557	Q96JS3	PGBD1_HUMAN	R	557	ENSP00000385213:Q557R;ENSP00000259883:Q557R	ENSP00000259883:Q557R	Q	+	2	0	PGBD1	28377280	0.998000	0.40836	0.890000	0.34922	0.995000	0.86356	5.001000	0.63946	2.087000	0.62958	0.533000	0.62120	CAA		0.363	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2				14	116	0	0	0	0.00245	0	14	116		
MDC1	9656	broad.mit.edu	37	6	30680687	30680687	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:30680687G>A	ENST00000376406.3	-	5	1679	c.1032C>T	c.(1030-1032)gtC>gtT	p.V344V	MDC1_ENST00000494654.1_5'Flank|MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Silent_p.V344V	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	344	Required for nuclear localization (NLS1).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						TCATAGGAATGACAACTGGGG	0.547								Other conserved DNA damage response genes																														uc003nrg.3		NaN																	0				breast(2)|ovary(1)|kidney(1)	4						c.(1030-1032)GTC>GTT	Other_conserved_DNA_damage_response_genes	mediator of DNA-damage checkpoint 1							102.0	115.0	111.0					6																	30680687		1511	2708	4219	SO:0001819	synonymous_variant	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30680687G>A	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.1032C>T	6.37:g.30680687G>A						MDC1_uc003nrf.3_5'UTR|MDC1_uc011dmp.1_Silent_p.V216V|MDC1_uc003nrh.1_Silent_p.V216V|MDC1_uc003nri.2_Silent_p.V344V	p.V344V	NM_014641	NP_055456	Q14676	MDC1_HUMAN			5	1472	-			344			Required for nuclear localization (NLS1).		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Silent	SNP	ENST00000376406.3	37	c.1032C>T	CCDS34384.1																																																																																				0.547	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1		NM_014641		18	113	0	0	0	0.006122	0	18	113		
IP6K3	117283	broad.mit.edu	37	6	33690810	33690810	+	Missense_Mutation	SNP	C	C	T	rs371307963		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:33690810C>T	ENST00000293756.4	-	6	1246	c.920G>A	c.(919-921)cGg>cAg	p.R307Q	IP6K3_ENST00000451316.1_Missense_Mutation_p.R307Q	NM_054111.4	NP_473452.2	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	307					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol metabolic process (GO:0046488)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol hexakisphosphate 6-kinase activity (GO:0000831)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			skin(1)	1						GAGGAGGGCCCGGAGCTGGTG	0.552																																						uc010jvf.2		NaN																	0					0						c.(919-921)CGG>CAG		inositol hexakisphosphate kinase 3		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	49.0	54.0	52.0		920,920	-12.0	0.0	6		52	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	IP6K3	NM_001142883.1,NM_054111.4	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	307/411,307/411	33690810	1,13005	2203	4300	6503	SO:0001583	missense	117283				inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity	g.chr6:33690810C>T	AF393812	CCDS34435.1	6p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000161896	ENSG00000161896			17269	protein-coding gene	gene with protein product		606993	"""inositol hexaphosphate kinase 3"""	IHPK3		11502751	Standard	NM_054111		Approved	INSP6K3	uc003ofb.2	Q96PC2	OTTHUMG00000014531	ENST00000293756.4:c.920G>A	6.37:g.33690810C>T	ENSP00000293756:p.Arg307Gln					IP6K3_uc003ofb.2_Missense_Mutation_p.R307Q	p.R307Q	NM_001142883	NP_001136355	Q96PC2	IP6K3_HUMAN			7	1456	-			307					Q96MQ9	Missense_Mutation	SNP	ENST00000293756.4	37	c.920G>A	CCDS34435.1	.	.	.	.	.	.	.	.	.	.	C	5.314	0.243217	0.10077	0.0	1.16E-4	ENSG00000161896	ENST00000451316;ENST00000293756	T;T	0.15603	2.41;2.41	5.99	-12.0	0.00017	.	1.021480	0.07787	N	0.954359	T	0.02888	0.0086	L	0.27944	0.81	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.46162	-0.9211	10	0.12103	T	0.63	-12.0943	19.9242	0.97098	0.0:0.5693:0.0:0.4307	.	307	Q96PC2	IP6K3_HUMAN	Q	307	ENSP00000398861:R307Q;ENSP00000293756:R307Q	ENSP00000293756:R307Q	R	-	2	0	IP6K3	33798788	0.000000	0.05858	0.031000	0.17742	0.107000	0.19398	-0.950000	0.03889	-3.014000	0.00272	-1.910000	0.00522	CGG		0.552	IP6K3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040203.1		NM_054111		12	54	0	0	0	0.00245	0	12	54		
KCNK5	8645	broad.mit.edu	37	6	39159465	39159465	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:39159465C>A	ENST00000359534.3	-	5	1039	c.701G>T	c.(700-702)gGg>gTg	p.G234V		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	234					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						CCAGGCCAGCCCCAAGTAGAT	0.577																																						uc003oon.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(700-702)GGG>GTG		potassium channel, subfamily K, member 5							83.0	94.0	90.0					6																	39159465		2203	4300	6503	SO:0001583	missense	8645				excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39159465C>A	AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.701G>T	6.37:g.39159465C>A	ENSP00000352527:p.Gly234Val						p.G234V	NM_003740	NP_003731	O95279	KCNK5_HUMAN			5	1065	-			234			Helical; (Potential).		B2RAQ6|B5TJL2|Q5VV76	Missense_Mutation	SNP	ENST00000359534.3	37	c.701G>T	CCDS4841.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.648692	0.87958	.	.	ENSG00000164626	ENST00000359534	T	0.61859	0.07	5.27	5.27	0.74061	Ion transport 2 (1);	0.045585	0.85682	D	0.000000	T	0.82157	0.4976	H	0.95365	3.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87285	0.2295	10	0.87932	D	0	.	19.2502	0.93921	0.0:1.0:0.0:0.0	.	234	O95279	KCNK5_HUMAN	V	234	ENSP00000352527:G234V	ENSP00000352527:G234V	G	-	2	0	KCNK5	39267443	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.776000	0.85560	2.619000	0.88677	0.561000	0.74099	GGG		0.577	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040449.1		NM_003740		22	180	1	0	1.10923e-09	0.00278	1.19881e-09	22	180		
CUL9	23113	broad.mit.edu	37	6	43152278	43152278	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:43152278C>T	ENST00000252050.4	+	2	314	c.230C>T	c.(229-231)cCt>cTt	p.P77L	CUL9_ENST00000354495.3_Missense_Mutation_p.P77L|CUL9_ENST00000372647.2_Missense_Mutation_p.P77L	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	77					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GCCAACTGCCCTGGGCTGTTA	0.572																																						uc003ouk.2		NaN																	0				ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						c.(229-231)CCT>CTT		p53-associated parkin-like cytoplasmic protein							124.0	121.0	122.0					6																	43152278		2203	4300	6503	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43152278C>T	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.230C>T	6.37:g.43152278C>T	ENSP00000252050:p.Pro77Leu					CUL9_uc003ouj.1_Missense_Mutation_p.P77L|CUL9_uc003oul.2_Missense_Mutation_p.P77L|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_5'Flank	p.P77L	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN			2	305	+			77					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.230C>T	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118359	0.37339	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.78924	-1.2;-1.22;-1.11	4.05	4.05	0.47172	.	0.000000	0.64402	D	0.000001	T	0.79094	0.4388	L	0.34521	1.04	0.43279	D	0.995248	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.973;0.973;0.999	T	0.82364	-0.0494	10	0.66056	D	0.02	-21.8474	16.754	0.85494	0.0:1.0:0.0:0.0	.	77;77;77	E9PEZ1;Q8IWT3;Q05C85	.;CUL9_HUMAN;.	L	77	ENSP00000252050:P77L;ENSP00000346490:P77L;ENSP00000361730:P77L	ENSP00000252050:P77L	P	+	2	0	CUL9	43260256	1.000000	0.71417	0.995000	0.50966	0.736000	0.42039	3.638000	0.54332	2.244000	0.73946	0.467000	0.42956	CCT		0.572	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2		NM_015089		6	91	0	0	0	0.00308	0	6	91		
PTCHD4	442213	broad.mit.edu	37	6	47846771	47846771	+	Missense_Mutation	SNP	G	G	C	rs377360060		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:47846771G>C	ENST00000339488.4	-	3	1842	c.1809C>G	c.(1807-1809)atC>atG	p.I603M		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	603						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										GAGAAGCAATGATATTGCTTT	0.433																																						uc011dwm.1		NaN																	0				central_nervous_system(1)	1						c.(1756-1758)ATC>ATG		hypothetical protein LOC442213							87.0	87.0	87.0					6																	47846771		2203	4300	6503	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47846771G>C		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.1809C>G	6.37:g.47846771G>C	ENSP00000341914:p.Ile603Met					C6orf138_uc011dwn.1_Missense_Mutation_p.I350M	p.I586M	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN			3	1843	-			603					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.1758C>G	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	G	12.85	2.061717	0.36373	.	.	ENSG00000244694	ENST00000339488	D	0.85088	-1.94	5.91	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.87265	0.6134	M	0.65498	2.005	0.80722	D	1	D	0.56035	0.974	D	0.69142	0.962	D	0.87833	0.2646	10	0.49607	T	0.09	.	10.0793	0.42379	0.0754:0.0:0.7816:0.143	.	603	Q6ZW05	CF138_HUMAN	M	603	ENSP00000341914:I603M	ENSP00000341914:I603M	I	-	3	3	C6orf138	47954730	0.992000	0.36948	1.000000	0.80357	0.996000	0.88848	0.221000	0.17680	1.451000	0.47736	0.650000	0.86243	ATC		0.433	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2		NM_001013732		6	53	0	0	0	0.001168	0	6	53		
MUT	4594	broad.mit.edu	37	6	49416588	49416588	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:49416588C>T	ENST00000274813.3	-	7	1512	c.1385G>A	c.(1384-1386)gGa>gAa	p.G462E		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	462					cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTAGGTATTCCCTCAGCTAC	0.333																																						uc003ozg.3		NaN																	0					0						c.(1384-1386)GGA>GAA		methylmalonyl Coenzyme A mutase precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						146.0	144.0	145.0					6																	49416588		2203	4300	6503	SO:0001583	missense	4594				fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity	g.chr6:49416588C>T		CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"""methylmalonyl Coenzyme A mutase"""			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.1385G>A	6.37:g.49416588C>T	ENSP00000274813:p.Gly462Glu						p.G462E	NM_000255	NP_000246	P22033	MUTA_HUMAN			7	1640	-	Lung NSC(77;0.0376)		462					A8K953|Q5SYZ3|Q96B11|Q9UD64	Missense_Mutation	SNP	ENST00000274813.3	37	c.1385G>A	CCDS4924.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.655108	0.88056	.	.	ENSG00000146085	ENST00000274813	D	0.98978	-5.29	5.75	4.88	0.63580	Cobalamin (vitamin B12)-dependent enzyme, catalytic (1);Cobalamin (vitamin B12)-dependent enzyme, catalytic subdomain (1);Methylmalonyl-CoA mutase, alpha/beta chain, catalytic (1);Methylmalonyl-CoA mutase, alpha chain, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.99612	0.9859	H	0.98314	4.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97727	1.0200	10	0.87932	D	0	-2.7253	14.2935	0.66295	0.0:0.9273:0.0:0.0727	.	462	P22033	MUTA_HUMAN	E	462	ENSP00000274813:G462E	ENSP00000274813:G462E	G	-	2	0	MUT	49524547	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.775000	0.68915	2.716000	0.92895	0.650000	0.86243	GGA		0.333	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040854.1				16	227	0	0	0	0.014323	0	16	227		
PKHD1	5314	broad.mit.edu	37	6	51612779	51612779	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:51612779A>G	ENST00000371117.3	-	58	9910	c.9635T>C	c.(9634-9636)tTt>tCt	p.F3212S	PKHD1_ENST00000340994.4_Missense_Mutation_p.F3212S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3212					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AATGCAGTCAAAAGAAGAGCT	0.448																																						uc003pah.1		NaN																	0				lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(9634-9636)TTT>TCT		fibrocystin isoform 1							108.0	111.0	110.0					6																	51612779		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51612779A>G	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.9635T>C	6.37:g.51612779A>G	ENSP00000360158:p.Phe3212Ser					PKHD1_uc010jzn.1_Missense_Mutation_p.F1195S|PKHD1_uc003pai.2_Missense_Mutation_p.F3212S	p.F3212S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			58	9911	-	Lung NSC(77;0.0605)		3212			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.9635T>C	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.117120	0.77323	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.89746	-2.38;-2.56	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.93504	0.7927	M	0.80746	2.51	0.40199	D	0.977494	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.997	D	0.94205	0.7453	10	0.59425	D	0.04	.	15.2351	0.73422	1.0:0.0:0.0:0.0	.	3212;3212;3212	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	S	3212	ENSP00000360158:F3212S;ENSP00000341097:F3212S	ENSP00000341097:F3212S	F	-	2	0	PKHD1	51720738	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.087000	0.71362	2.193000	0.70182	0.533000	0.62120	TTT		0.448	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1		NM_138694		22	128	0	0	0	0.00333	0	22	128		
PKHD1	5314	broad.mit.edu	37	6	51824704	51824704	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:51824704T>A	ENST00000371117.3	-	36	6147	c.5872A>T	c.(5872-5874)Act>Tct	p.T1958S	PKHD1_ENST00000340994.4_Missense_Mutation_p.T1958S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1958	G8 1. {ECO:0000255|PROSITE- ProRule:PRU00817}.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTTGTGTTAGTGTCCAGCAGA	0.463											OREG0017492	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003pah.1		NaN																	0				lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(5872-5874)ACT>TCT		fibrocystin isoform 1							195.0	173.0	180.0					6																	51824704		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51824704T>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.5872A>T	6.37:g.51824704T>A	ENSP00000360158:p.Thr1958Ser		OREG0017492	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	980	PKHD1_uc003pai.2_Missense_Mutation_p.T1958S	p.T1958S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			36	6148	-	Lung NSC(77;0.0605)		1958			Extracellular (Potential).|G8 1.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.5872A>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	T	9.545	1.114471	0.20795	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87887	-2.31;-2.31	5.69	3.26	0.37387	G8 domain (2);	0.554792	0.17869	N	0.159244	T	0.57844	0.2081	N	0.10837	0.055	0.20196	N	0.999927	P;P	0.43826	0.818;0.669	B;B	0.43838	0.311;0.433	T	0.55503	-0.8131	10	0.26408	T	0.33	.	5.3283	0.15918	0.132:0.1508:0.0:0.7172	.	1958;1958	P08F94-2;P08F94	.;PKHD1_HUMAN	S	1958	ENSP00000360158:T1958S;ENSP00000341097:T1958S	ENSP00000341097:T1958S	T	-	1	0	PKHD1	51932663	0.998000	0.40836	0.849000	0.33467	0.227000	0.25037	1.035000	0.30216	0.410000	0.25675	0.533000	0.62120	ACT		0.463	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1		NM_138694		18	210	0	0	0	0.014323	0	18	210		
PKHD1	5314	broad.mit.edu	37	6	51824706	51824706	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:51824706T>C	ENST00000371117.3	-	36	6145	c.5870A>G	c.(5869-5871)gAc>gGc	p.D1957G	PKHD1_ENST00000340994.4_Missense_Mutation_p.D1957G	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1957	G8 1. {ECO:0000255|PROSITE- ProRule:PRU00817}.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGTGTTAGTGTCCAGCAGAAG	0.453											OREG0017492	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003pah.1		NaN																	0				lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(5869-5871)GAC>GGC		fibrocystin isoform 1							193.0	172.0	179.0					6																	51824706		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51824706T>C	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.5870A>G	6.37:g.51824706T>C	ENSP00000360158:p.Asp1957Gly		OREG0017492	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	980	PKHD1_uc003pai.2_Missense_Mutation_p.D1957G	p.D1957G	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			36	6146	-	Lung NSC(77;0.0605)		1957			Extracellular (Potential).|G8 1.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.5870A>G	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	T	9.747	1.166511	0.21621	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.91068	-2.78;-2.78	5.69	5.69	0.88448	G8 domain (2);	0.166414	0.41194	N	0.000929	D	0.87216	0.6122	M	0.76574	2.34	0.34595	D	0.715896	P;B	0.38420	0.63;0.217	B;B	0.42522	0.39;0.121	D	0.88586	0.3140	10	0.51188	T	0.08	.	9.4741	0.38860	0.0:0.0865:0.0:0.9135	.	1957;1957	P08F94-2;P08F94	.;PKHD1_HUMAN	G	1957	ENSP00000360158:D1957G;ENSP00000341097:D1957G	ENSP00000341097:D1957G	D	-	2	0	PKHD1	51932665	1.000000	0.71417	0.945000	0.38365	0.268000	0.26511	3.703000	0.54808	2.162000	0.67917	0.533000	0.62120	GAC		0.453	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1		NM_138694		16	210	0	0	0	0.014323	0	16	210		
FIG4	9896	broad.mit.edu	37	6	110106228	110106228	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:110106228G>A	ENST00000230124.3	+	17	2069	c.1945G>A	c.(1945-1947)Gaa>Aaa	p.E649K	FIG4_ENST00000441478.2_Missense_Mutation_p.E372K	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	649					cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		GCCCTATGATGAAGGTAGGTA	0.289																																						uc003ptt.2		NaN																	0				ovary(1)	1						c.(1945-1947)GAA>AAA		Sac domain-containing inositol phosphatase 3							202.0	184.0	190.0					6																	110106228		2203	4299	6502	SO:0001583	missense	9896				cell death	endosome membrane	protein binding	g.chr6:110106228G>A	D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"""KIAA0274"", ""FIG4 homolog (S. cerevisiae)"", ""FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"""	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.1945G>A	6.37:g.110106228G>A	ENSP00000230124:p.Glu649Lys					FIG4_uc011eau.1_Missense_Mutation_p.E372K	p.E649K	NM_014845	NP_055660	Q92562	FIG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)	17	2160	+		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)	649					Q53H49|Q5TCS6	Missense_Mutation	SNP	ENST00000230124.3	37	c.1945G>A	CCDS5078.1	.	.	.	.	.	.	.	.	.	.	G	33	5.239025	0.95240	.	.	ENSG00000112367	ENST00000441478;ENST00000230124	T;T	0.54279	1.82;0.58	5.61	5.61	0.85477	.	0.054081	0.64402	D	0.000001	T	0.54515	0.1863	L	0.32530	0.975	0.58432	D	0.999999	D;D	0.89917	0.994;1.0	D;D	0.65987	0.915;0.94	T	0.44528	-0.9322	10	0.31617	T	0.26	-28.9948	20.0044	0.97430	0.0:0.0:1.0:0.0	.	372;649	F5H8L9;Q92562	.;FIG4_HUMAN	K	372;649	ENSP00000399443:E372K;ENSP00000230124:E649K	ENSP00000230124:E649K	E	+	1	0	FIG4	110212921	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.060000	0.76692	2.804000	0.96469	0.650000	0.86243	GAA		0.289	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041768.1		NM_014845		18	183	0	0	0	0.00278	0	18	183		
MAN1A1	4121	broad.mit.edu	37	6	119669755	119669755	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:119669755T>C	ENST00000368468.3	-	2	917	c.476A>G	c.(475-477)cAg>cGg	p.Q159R	MAN1A1_ENST00000368466.2_Missense_Mutation_p.Q159R	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	159					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		CAGCTGGTCCTGGGCCACCTT	0.652																																					Ovarian(136;8 1825 12608 33541 47587)	uc003pym.1		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(475-477)CAG>CGG		mannosidase, alpha, class 1A, member 1							65.0	68.0	67.0					6																	119669755		2203	4300	6503	SO:0001583	missense	4121				post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr6:119669755T>C	AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.476A>G	6.37:g.119669755T>C	ENSP00000357453:p.Gln159Arg					MAN1A1_uc010kei.1_Missense_Mutation_p.Q159R	p.Q159R	NM_005907	NP_005898	P33908	MA1A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)	2	918	-		all_epithelial(87;0.173)	159			Lumenal (Potential).		E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP	ENST00000368468.3	37	c.476A>G	CCDS5122.1	.	.	.	.	.	.	.	.	.	.	t	14.41	2.526098	0.44969	.	.	ENSG00000111885	ENST00000368468;ENST00000368466	T;T	0.78364	-0.65;-1.17	5.01	1.34	0.21922	.	0.800320	0.11827	N	0.525599	T	0.47563	0.1452	L	0.42686	1.345	0.23132	N	0.998245	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.37957	-0.9683	9	.	.	.	-11.2106	8.5132	0.33231	0.0:0.231:0.0:0.769	.	159;159	Q6P052;P33908	.;MA1A1_HUMAN	R	159	ENSP00000357453:Q159R;ENSP00000357451:Q159R	.	Q	-	2	0	MAN1A1	119711454	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	1.133000	0.31430	0.272000	0.22027	-0.550000	0.04213	CAG		0.652	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042015.1		NM_005907		9	97	0	0	0	0.008291	0	9	97		
HSF2	3298	broad.mit.edu	37	6	122733867	122733867	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:122733867C>G	ENST00000368455.4	+	3	480	c.288C>G	c.(286-288)ttC>ttG	p.F96L	HSF2_ENST00000452194.1_Missense_Mutation_p.F96L	NM_004506.3	NP_004497.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	96					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stress (GO:0006950)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		ATCCTTACTTCAAACAAGGAC	0.398																																						uc003pyu.2		NaN																	0					0						c.(286-288)TTC>TTG		heat shock transcription factor 2 isoform a							110.0	103.0	105.0					6																	122733867		2203	4299	6502	SO:0001583	missense	3298				response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:122733867C>G	M65217	CCDS5124.1, CCDS47470.1	6q22	2008-08-29			ENSG00000025156	ENSG00000025156			5225	protein-coding gene	gene with protein product		140581				1871106	Standard	NM_004506		Approved		uc003pyu.2	Q03933	OTTHUMG00000016216	ENST00000368455.4:c.288C>G	6.37:g.122733867C>G	ENSP00000357440:p.Phe96Leu					HSF2_uc003pyt.3_Missense_Mutation_p.F96L|HSF2_uc003pyv.2_Missense_Mutation_p.F96L	p.F96L	NM_004506	NP_004497	Q03933	HSF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)	3	475	+			96			By similarity.		B4DGJ4|Q0VAH9|Q2M1K4|Q9H445	Missense_Mutation	SNP	ENST00000368455.4	37	c.288C>G	CCDS5124.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.731280	0.69189	.	.	ENSG00000025156	ENST00000368455;ENST00000452194	D;D	0.96104	-3.91;-3.91	5.19	3.22	0.36961	Winged helix-turn-helix transcription repressor DNA-binding (1);Heat shock factor (HSF)-type, DNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.97666	0.9235	H	0.96269	3.795	0.58432	D	0.999999	D;D;D	0.71674	0.995;0.998;0.998	D;D;D	0.75020	0.936;0.975;0.985	D	0.97092	0.9791	10	0.72032	D	0.01	-22.3092	8.5917	0.33690	0.0:0.6539:0.0:0.3461	.	96;96;96	Q03933-2;Q03933;Q9BS48	.;HSF2_HUMAN;.	L	96	ENSP00000357440:F96L;ENSP00000400380:F96L	ENSP00000357440:F96L	F	+	3	2	HSF2	122775566	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.249000	0.32839	0.557000	0.29117	0.650000	0.86243	TTC		0.398	HSF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043520.1		NM_004506		7	133	0	0	0	0.001984	0	7	133		
CTGF	1490	broad.mit.edu	37	6	132270442	132270442	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:132270442A>G	ENST00000367976.3	-	5	1212	c.1012T>C	c.(1012-1014)Tcg>Ccg	p.S338P	RP11-69I8.3_ENST00000435287.1_RNA	NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	338	Heparin-binding.				angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|chondrocyte proliferation (GO:0035988)|cytosolic calcium ion transport (GO:0060401)|DNA replication (GO:0006260)|epidermis development (GO:0008544)|extracellular matrix constituent secretion (GO:0070278)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|organ senescence (GO:0010260)|ossification (GO:0001503)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell activation (GO:0050867)|positive regulation of cell death (GO:0010942)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of chondrocyte differentiation (GO:0032330)|response to amino acid (GO:0043200)|response to anoxia (GO:0034059)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to mineralocorticoid (GO:0051385)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell cortex (GO:0005938)|cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|insulin-like growth factor binding (GO:0005520)			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		TAGTACAGCGATTCAAAGATG	0.453																																					Esophageal Squamous(127;510 1660 12817 24400 38449)	uc003qcz.2		NaN																	0					0						c.(1012-1014)TCG>CCG		connective tissue growth factor precursor							137.0	122.0	127.0					6																	132270442		2203	4300	6503	SO:0001583	missense	1490				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding	g.chr6:132270442A>G	X78947	CCDS5151.1	6q23.2	2008-02-05			ENSG00000118523	ENSG00000118523			2500	protein-coding gene	gene with protein product		121009				1654338	Standard	NM_001901		Approved	IGFBP8, CCN2	uc003qcz.3	P29279	OTTHUMG00000015573	ENST00000367976.3:c.1012T>C	6.37:g.132270442A>G	ENSP00000356954:p.Ser338Pro						p.S338P	NM_001901	NP_001892	P29279	CTGF_HUMAN		GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)	5	1218	-	Breast(56;0.0602)		338			Heparin-binding.		E1P578|Q6LCY0|Q96A79|Q96QX2|Q9UDL6	Missense_Mutation	SNP	ENST00000367976.3	37	c.1012T>C	CCDS5151.1	.	.	.	.	.	.	.	.	.	.	A	15.14	2.745626	0.49151	.	.	ENSG00000118523	ENST00000367976	D	0.91124	-2.79	5.64	5.64	0.86602	Cystine knot (1);	0.271395	0.36200	N	0.002723	T	0.79281	0.4419	N	0.05306	-0.075	0.48762	D	0.999702	D	0.56746	0.977	P	0.55545	0.778	T	0.79764	-0.1666	10	0.13470	T	0.59	.	12.0677	0.53598	0.8564:0.1436:0.0:0.0	.	338	P29279	CTGF_HUMAN	P	338	ENSP00000356954:S338P	ENSP00000356954:S338P	S	-	1	0	CTGF	132312135	1.000000	0.71417	0.997000	0.53966	0.908000	0.53690	5.677000	0.68142	2.275000	0.75901	0.528000	0.53228	TCG		0.453	CTGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042239.2		NM_001901		14	109	0	0	0	0.00499	0	14	109		
AHI1	54806	broad.mit.edu	37	6	135787429	135787429	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:135787429T>C	ENST00000367800.4	-	5	488	c.272A>G	c.(271-273)aAg>aGg	p.K91R	AHI1_ENST00000327035.6_Missense_Mutation_p.K91R|AHI1_ENST00000457866.2_Missense_Mutation_p.K91R	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	91					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CGTGCTCTTCTTCAGGTTGTT	0.393																																						uc003qgi.2		NaN																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(271-273)AAG>AGG		Abelson helper integration site 1 isoform a							270.0	244.0	252.0					6																	135787429		1886	4116	6002	SO:0001583	missense	54806					adherens junction|cilium|microtubule basal body		g.chr6:135787429T>C	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.272A>G	6.37:g.135787429T>C	ENSP00000356774:p.Lys91Arg					AHI1_uc003qgh.2_Missense_Mutation_p.K91R|AHI1_uc003qgj.2_Missense_Mutation_p.K91R|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Missense_Mutation_p.K91R	p.K91R	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	7	656	-	Breast(56;0.239)|Colorectal(23;0.24)		91					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	37	c.272A>G	CCDS47483.1	.	.	.	.	.	.	.	.	.	.	T	8.750	0.921043	0.17982	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801;ENST00000524469	T;T;T;T;T	0.55930	0.49;0.49;0.49;1.53;0.87	4.83	1.03	0.20045	.	0.591770	0.15922	N	0.238086	T	0.17874	0.0429	N	0.22421	0.69	0.37626	D	0.921507	B;B	0.30973	0.302;0.201	B;B	0.25140	0.058;0.026	T	0.04103	-1.0977	10	0.56958	D	0.05	0.2055	8.8709	0.35316	0.0:0.219:0.0:0.781	.	91;91	Q8N157-2;Q8N157	.;AHI1_HUMAN	R	91;91;91;91;91;73	ENSP00000356774:K91R;ENSP00000388650:K91R;ENSP00000265602:K91R;ENSP00000322478:K91R;ENSP00000433063:K73R	ENSP00000265602:K91R	K	-	2	0	AHI1	135829122	0.690000	0.27699	0.014000	0.15608	0.016000	0.09150	2.734000	0.47368	0.007000	0.14760	0.482000	0.46254	AAG		0.393	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1		NM_017651		27	229	0	0	0	0.007291	0	27	229		
TNFAIP3	7128	broad.mit.edu	37	6	138198260	138198260	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:138198260G>A	ENST00000237289.4	+	6	919	c.853G>A	c.(853-855)Gac>Aac	p.D285N	TNFAIP3_ENST00000485192.1_3'UTR	NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	285	TRAF-binding.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		AAGATTTGAAGACTTAAAAGT	0.373			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""																																GBM(130;153 1739 22295 28918 47987)	uc003qhr.2		NaN		Rec	yes		6	6q23	7128	D|N|F	"""tumor necrosis factor, alpha-induced protein 3"""			L			marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma		25	Whole gene deletion(25)	p.0?(22)	haematopoietic_and_lymphoid_tissue(25)	haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137						c.(853-855)GAC>AAC		tumor necrosis factor, alpha-induced protein 3							86.0	94.0	92.0					6																	138198260		2203	4300	6503	SO:0001583	missense	7128				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr6:138198260G>A	M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"""OTU domain containing"""	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.853G>A	6.37:g.138198260G>A	ENSP00000237289:p.Asp285Asn					TNFAIP3_uc003qhs.2_Missense_Mutation_p.D285N	p.D285N	NM_006290	NP_006281	P21580	TNAP3_HUMAN		GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)	6	919	+	Breast(32;0.135)|Colorectal(23;0.24)		285			TRAF-binding.		B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Missense_Mutation	SNP	ENST00000237289.4	37	c.853G>A	CCDS5187.1	.	.	.	.	.	.	.	.	.	.	G	36	5.606893	0.96626	.	.	ENSG00000118503	ENST00000237289;ENST00000535574;ENST00000544646	T	0.23348	1.91	6.08	6.08	0.98989	.	0.046925	0.85682	D	0.000000	T	0.28499	0.0705	L	0.29908	0.895	0.80722	D	1	D	0.71674	0.998	P	0.59595	0.86	T	0.00912	-1.1517	10	0.51188	T	0.08	-12.6158	18.8453	0.92203	0.0:0.0:1.0:0.0	.	285	P21580	TNAP3_HUMAN	N	285	ENSP00000237289:D285N	ENSP00000237289:D285N	D	+	1	0	TNFAIP3	138239953	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.102000	0.94226	2.890000	0.99128	0.655000	0.94253	GAC		0.373	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1				11	98	0	0	0	0.010729	0	11	98		
PLEKHG1	57480	broad.mit.edu	37	6	151152027	151152027	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:151152027G>A	ENST00000358517.2	+	15	1991	c.1780G>A	c.(1780-1782)Gag>Aag	p.E594K	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.E594K			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	594							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GGGACAGATGGAGTCCACAGA	0.532																																						uc003qny.1		NaN																	0				ovary(2)	2						c.(1780-1782)GAG>AAG		pleckstrin homology domain containing, family G							92.0	87.0	89.0					6																	151152027		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151152027G>A	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.1780G>A	6.37:g.151152027G>A	ENSP00000351318:p.Glu594Lys					PLEKHG1_uc011eel.1_Missense_Mutation_p.E634K|PLEKHG1_uc011eem.1_Missense_Mutation_p.E653K|PLEKHG1_uc003qnz.2_Missense_Mutation_p.E594K	p.E594K	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	16	2092	+			594					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.1780G>A	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254401	0.22965	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.58797	0.31;0.31	5.55	4.69	0.59074	.	0.459724	0.25836	N	0.027994	T	0.35799	0.0944	L	0.60455	1.87	0.09310	N	1	B;B;B	0.24483	0.047;0.104;0.104	B;B;B	0.22386	0.014;0.039;0.039	T	0.22800	-1.0206	10	0.33141	T	0.24	.	14.2609	0.66085	0.0:0.3488:0.6512:0.0	.	401;594;594	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	K	594	ENSP00000356297:E594K;ENSP00000351318:E594K	ENSP00000351318:E594K	E	+	1	0	PLEKHG1	151193720	0.879000	0.30193	0.019000	0.16419	0.403000	0.30841	2.217000	0.42880	1.339000	0.45563	0.561000	0.74099	GAG		0.532	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1				7	131	0	0	0	0.006214	0	7	131		
SYNJ2	8871	broad.mit.edu	37	6	158516772	158516772	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:158516772A>G	ENST00000355585.4	+	27	3942	c.3867A>G	c.(3865-3867)ccA>ccG	p.P1289P	SYNJ2_ENST00000367122.2_Silent_p.P1244P|SYNJ2_ENST00000367112.1_Silent_p.P374P	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1289	Pro-rich.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TTCCCAAACCAAGAACATTTC	0.597																																						uc003qqx.1		NaN																	0				skin(1)	1						c.(3865-3867)CCA>CCG		synaptojanin 2							52.0	57.0	55.0					6																	158516772		2203	4300	6503	SO:0001819	synonymous_variant	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158516772A>G	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.3867A>G	6.37:g.158516772A>G						SYNJ2_uc003qqy.1_Silent_p.P1002P|SYNJ2_uc003qqz.1_Silent_p.P906P|SYNJ2_uc003qra.1_Silent_p.P632P|SYNJ2_uc010kjp.1_Silent_p.P172P	p.P1289P	NM_003898	NP_003889	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	27	3942	+			1289			Catalytic (By similarity).|Pro-rich.		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Silent	SNP	ENST00000355585.4	37	c.3867A>G	CCDS5254.1																																																																																				0.597	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2				10	52	0	0	0	0.008291	0	10	52		
MAP3K4	4216	broad.mit.edu	37	6	161470322	161470322	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:161470322C>G	ENST00000392142.4	+	3	1166	c.1018C>G	c.(1018-1020)Cat>Gat	p.H340D	MAP3K4_ENST00000348824.7_Missense_Mutation_p.H340D|MAP3K4_ENST00000366920.2_Missense_Mutation_p.H340D|MAP3K4_ENST00000366919.2_Missense_Mutation_p.H340D	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	340					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TTACTCAACACATCATGAGCA	0.453																																						uc003qtn.2		NaN																	0				ovary(3)|lung(3)|skin(2)|stomach(1)	9						c.(1018-1020)CAT>GAT		mitogen-activated protein kinase kinase kinase 4							99.0	102.0	101.0					6																	161470322		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161470322C>G	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.1018C>G	6.37:g.161470322C>G	ENSP00000375986:p.His340Asp					MAP3K4_uc010kkc.1_Missense_Mutation_p.H340D|MAP3K4_uc003qto.2_Missense_Mutation_p.H340D|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_5'UTR	p.H340D	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	3	1160	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	340					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.1018C>G	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	C	9.980	1.227881	0.22542	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	5.74	3.39	0.38822	.	0.212376	0.42420	D	0.000706	T	0.07413	0.0187	N	0.08118	0	0.09310	N	0.999998	B;B	0.25105	0.096;0.118	B;B	0.27380	0.079;0.055	T	0.26155	-1.0111	10	0.40728	T	0.16	-7.895	9.5469	0.39286	0.0:0.1446:0.0:0.8554	.	340;340	Q9Y6R4-2;Q9Y6R4	.;M3K4_HUMAN	D	340	ENSP00000355886:H340D;ENSP00000375986:H340D;ENSP00000355887:H340D;ENSP00000297332:H340D	ENSP00000297332:H340D	H	+	1	0	MAP3K4	161390312	1.000000	0.71417	0.002000	0.10522	0.873000	0.50193	4.549000	0.60726	0.460000	0.27045	-0.312000	0.09012	CAT		0.453	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3				7	73	0	0	0	0.004482	0	7	73		
MAP3K4	4216	broad.mit.edu	37	6	161470565	161470565	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:161470565G>C	ENST00000392142.4	+	3	1409	c.1261G>C	c.(1261-1263)Gac>Cac	p.D421H	MAP3K4_ENST00000348824.7_Missense_Mutation_p.D421H|MAP3K4_ENST00000366920.2_Missense_Mutation_p.D421H|MAP3K4_ENST00000366919.2_Missense_Mutation_p.D421H	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	421					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GAATTTATCAGACATTGGCTG	0.438																																						uc003qtn.2		NaN																	0				ovary(3)|lung(3)|skin(2)|stomach(1)	9						c.(1261-1263)GAC>CAC		mitogen-activated protein kinase kinase kinase 4							74.0	77.0	76.0					6																	161470565		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161470565G>C	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.1261G>C	6.37:g.161470565G>C	ENSP00000375986:p.Asp421His					MAP3K4_uc010kkc.1_Missense_Mutation_p.D421H|MAP3K4_uc003qto.2_Missense_Mutation_p.D421H|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_5'UTR	p.D421H	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	3	1403	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	421					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.1261G>C	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.638569	0.67130	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	5.82	5.82	0.92795	.	0.131614	0.53938	D	0.000055	T	0.36936	0.0985	L	0.53249	1.67	0.39662	D	0.970629	D;D	0.56035	0.967;0.974	P;P	0.53861	0.73;0.736	T	0.13308	-1.0514	10	0.51188	T	0.08	-38.6837	13.3125	0.60388	0.0719:0.0:0.9281:0.0	.	421;421	Q9Y6R4-2;Q9Y6R4	.;M3K4_HUMAN	H	421	ENSP00000355886:D421H;ENSP00000375986:D421H;ENSP00000355887:D421H;ENSP00000297332:D421H	ENSP00000297332:D421H	D	+	1	0	MAP3K4	161390555	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.776000	0.68924	2.751000	0.94390	0.650000	0.86243	GAC		0.438	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3				8	71	0	0	0	0.006214	0	8	71		
SNX8	29886	broad.mit.edu	37	7	2311576	2311576	+	Missense_Mutation	SNP	C	C	G	rs371734888		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:2311576C>G	ENST00000222990.3	-	4	491	c.449G>C	c.(448-450)aGa>aCa	p.R150T		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	150	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)	early endosome membrane (GO:0031901)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CTTCAGGGCTCTCCTCCTGGC	0.637																																						uc003slw.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(448-450)AGA>ACA		sorting nexin 8		C	THR/ARG	1,4405	2.1+/-5.4	0,1,2202	86.0	68.0	74.0		449	5.0	0.2	7		74	0,8600		0,0,4300	no	missense	SNX8	NM_013321.2	71	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	probably-damaging	150/466	2311576	1,13005	2203	4300	6503	SO:0001583	missense	29886				cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding	g.chr7:2311576C>G	AF121858	CCDS5331.1	7p22.3	2010-08-05			ENSG00000106266	ENSG00000106266		"""Sorting nexins"""	14972	protein-coding gene	gene with protein product		614905					Standard	NM_013321		Approved	Mvp1	uc003slw.3	Q9Y5X2	OTTHUMG00000151512	ENST00000222990.3:c.449G>C	7.37:g.2311576C>G	ENSP00000222990:p.Arg150Thr						p.R150T	NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)	4	492	-		Ovarian(82;0.11)	150			PX.		A4D207|Q96I67	Missense_Mutation	SNP	ENST00000222990.3	37	c.449G>C	CCDS5331.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.581824	0.86748	2.27E-4	0.0	ENSG00000106266	ENST00000222990;ENST00000435060;ENST00000457286;ENST00000435336	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.01	5.01	0.66863	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.63570	0.2522	M	0.76938	2.355	0.54753	D	0.999981	D	0.65815	0.995	D	0.69654	0.965	T	0.61768	-0.6995	10	0.25751	T	0.34	.	16.5041	0.84264	0.0:1.0:0.0:0.0	.	150	Q9Y5X2	SNX8_HUMAN	T	150;136;97;97	ENSP00000222990:R150T;ENSP00000392437:R136T;ENSP00000406954:R97T;ENSP00000406212:R97T	ENSP00000222990:R150T	R	-	2	0	SNX8	2278102	1.000000	0.71417	0.197000	0.23402	0.990000	0.78478	7.285000	0.78660	2.314000	0.78098	0.655000	0.94253	AGA		0.637	SNX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322949.2				4	59	0	0	0	0.009096	0	4	59		
CREB5	9586	broad.mit.edu	37	7	28858795	28858795	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:28858795C>A	ENST00000357727.2	+	11	1816	c.1426C>A	c.(1426-1428)Cat>Aat	p.H476N	CREB5_ENST00000396300.2_Missense_Mutation_p.H469N|CREB5_ENST00000396298.2_Missense_Mutation_p.H337N|CREB5_ENST00000396299.2_Missense_Mutation_p.H443N|CREB5_ENST00000409603.1_Missense_Mutation_p.H443N	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	476					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						AGTCATCCAGCATAATACCAT	0.502																																						uc003szq.2		NaN																	0				skin(2)	2						c.(1426-1428)CAT>AAT		cAMP responsive element binding protein 5							189.0	180.0	183.0					7																	28858795		2203	4300	6503	SO:0001583	missense	9586				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:28858795C>A	L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.1426C>A	7.37:g.28858795C>A	ENSP00000350359:p.His476Asn					CREB5_uc003szo.2_Missense_Mutation_p.H443N|CREB5_uc003szr.2_Missense_Mutation_p.H469N|CREB5_uc003szs.2_Missense_Mutation_p.H337N	p.H476N	NM_182898	NP_878901	Q02930	CREB5_HUMAN			11	1816	+			476					A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Missense_Mutation	SNP	ENST00000357727.2	37	c.1426C>A	CCDS5417.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095500	0.76870	.	.	ENSG00000146592	ENST00000396299;ENST00000357727;ENST00000396300;ENST00000409603;ENST00000396298	T;T;T;T;T	0.68903	-0.32;-0.32;-0.31;-0.32;-0.36	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.80276	0.4593	L	0.58810	1.83	0.58432	D	0.999997	D;D	0.63880	0.993;0.993	D;D	0.70227	0.968;0.968	T	0.81289	-0.1000	10	0.87932	D	0	-11.0547	19.5909	0.95509	0.0:1.0:0.0:0.0	.	337;476	B4DU13;Q02930	.;CREB5_HUMAN	N	443;476;469;443;337	ENSP00000379593:H443N;ENSP00000350359:H476N;ENSP00000379594:H469N;ENSP00000387197:H443N;ENSP00000379592:H337N	ENSP00000350359:H476N	H	+	1	0	CREB5	28825320	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.442000	0.80503	2.633000	0.89246	0.650000	0.86243	CAT		0.502	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4		NM_004904		60	247	1	0	9.64103e-21	0.01441	1.09667e-20	60	247		
ANLN	54443	broad.mit.edu	37	7	36445999	36445999	+	Missense_Mutation	SNP	G	G	T	rs202225666		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:36445999G>T	ENST00000265748.2	+	4	918	c.697G>T	c.(697-699)Gct>Tct	p.A233S	ANLN_ENST00000396068.2_Missense_Mutation_p.A233S	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	233	Interaction with F-actin.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GCCTGGTACCGCTTGTTTATC	0.458																																						uc003tff.2		NaN																	0				ovary(2)|skin(1)	3						c.(697-699)GCT>TCT		anillin, actin binding protein							122.0	115.0	117.0					7																	36445999		2203	4300	6503	SO:0001583	missense	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36445999G>T	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.697G>T	7.37:g.36445999G>T	ENSP00000265748:p.Ala233Ser					ANLN_uc011kaz.1_Missense_Mutation_p.A145S|ANLN_uc003tfg.2_Missense_Mutation_p.A233S|ANLN_uc010kxe.2_Missense_Mutation_p.A233S	p.A233S	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN			4	901	+			233			Interaction with F-actin.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	c.697G>T	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694812	0.48202	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.02863	4.13;4.13	5.84	-2.49	0.06403	.	0.556096	0.21086	N	0.080414	T	0.03011	0.0089	L	0.48642	1.525	0.28925	N	0.891887	B;B;B;B	0.27625	0.082;0.115;0.183;0.035	B;B;B;B	0.27715	0.082;0.018;0.039;0.009	T	0.35076	-0.9803	10	0.22109	T	0.4	-3.3756	13.2162	0.59861	0.5258:0.0:0.4742:0.0	.	110;233;233;233	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	S	233	ENSP00000265748:A233S;ENSP00000379380:A233S	ENSP00000265748:A233S	A	+	1	0	ANLN	36412524	0.949000	0.32298	0.990000	0.47175	0.996000	0.88848	0.189000	0.17037	-0.316000	0.08690	-0.295000	0.09555	GCT		0.458	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3		NM_018685		17	67	1	0	4.7546e-09	0.004007	5.10223e-09	17	67		
ELMO1	9844	broad.mit.edu	37	7	37311474	37311474	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:37311474A>T	ENST00000310758.4	-	5	853	c.206T>A	c.(205-207)aTa>aAa	p.I69K	ELMO1_ENST00000442504.1_Missense_Mutation_p.I69K|ELMO1_ENST00000448602.1_Missense_Mutation_p.I69K	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	69					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GCCATTTTTTATCTCATTGCG	0.353																																						uc003tfk.1		NaN																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(205-207)ATA>AAA		engulfment and cell motility 1 isoform 1							129.0	132.0	131.0					7																	37311474		2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37311474A>T	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.206T>A	7.37:g.37311474A>T	ENSP00000312185:p.Ile69Lys					ELMO1_uc011kbc.1_5'UTR|ELMO1_uc010kxg.1_Missense_Mutation_p.I69K	p.I69K	NM_014800	NP_055615	Q92556	ELMO1_HUMAN			5	513	-			69					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.206T>A	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.459718	0.84317	.	.	ENSG00000155849	ENST00000310758;ENST00000442504;ENST00000448602;ENST00000455119;ENST00000455879;ENST00000453399	T;T;T;T;T;T	0.57752	1.83;1.83;1.83;0.88;0.91;0.38	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.66626	0.2808	M	0.79123	2.44	0.80722	D	1	D	0.52996	0.957	P	0.57502	0.822	T	0.71196	-0.4664	10	0.87932	D	0	.	11.0179	0.47701	1.0:0.0:0.0:0.0	.	69	Q92556	ELMO1_HUMAN	K	69	ENSP00000312185:I69K;ENSP00000406952:I69K;ENSP00000394458:I69K;ENSP00000406610:I69K;ENSP00000416090:I69K;ENSP00000391734:I69K	ENSP00000312185:I69K	I	-	2	0	ELMO1	37277999	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.742000	0.62103	2.371000	0.80710	0.533000	0.62120	ATA		0.353	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4		NM_130442		6	107	0	0	0	0.004482	0	6	107		
HUS1	3364	broad.mit.edu	37	7	48015279	48015279	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:48015279A>G	ENST00000258774.5	-	5	494	c.471T>C	c.(469-471)agT>agC	p.S157S	HUS1_ENST00000432325.1_Silent_p.S136S	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	157					cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|embryo development (GO:0009790)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)|response to UV (GO:0009411)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				GTAAATAAATACTAACCTACA	0.318								Direct reversal of damage;Other conserved DNA damage response genes																													Ovarian(103;466 1517 21788 34610 43890)	uc003tod.1		NaN																	0				ovary(2)|lung(2)|kidney(1)	5						c.(469-471)AGT>AGC	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	HUS1 checkpoint protein							65.0	59.0	61.0					7																	48015279		2202	4298	6500	SO:0001819	synonymous_variant	3364				DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding	g.chr7:48015279A>G	Y16893	CCDS34635.1	7p13-p12	2008-08-08	2001-11-28		ENSG00000136273	ENSG00000136273			5309	protein-coding gene	gene with protein product	"""hus1+-like protein"""	603760	"""HUS1 (S. pombe) checkpoint homolog"""			9878245, 9524127	Standard	NM_004507		Approved		uc003tod.2	O60921	OTTHUMG00000155645	ENST00000258774.5:c.471T>C	7.37:g.48015279A>G						HUS1_uc003toe.1_Silent_p.S157S|HUS1_uc011kce.1_RNA	p.S157S	NM_004507	NP_004498	O60921	HUS1_HUMAN			5	601	-		Breast(660;0.00139)	157					B4DFI9	Silent	SNP	ENST00000258774.5	37	c.471T>C	CCDS34635.1																																																																																				0.318	HUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340952.1		NM_004507		6	32	0	0	0	0.00308	0	6	32		
EGFR	1956	broad.mit.edu	37	7	55214318	55214318	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:55214318G>A	ENST00000275493.2	+	4	621	c.444G>A	c.(442-444)gtG>gtA	p.V148V	EGFR_ENST00000455089.1_Intron|EGFR_ENST00000344576.2_Silent_p.V148V|EGFR_ENST00000420316.2_Silent_p.V148V|EGFR_ENST00000442591.1_Silent_p.V148V|EGFR_ENST00000342916.3_Silent_p.V148V|EGFR_ENST00000454757.2_Silent_p.V95V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	148			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	ATGGCGCCGTGCGGTTCAGCA	0.532		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		0		p.V30_R297>G(5)		lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(442-444)GTG>GTA		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						106.0	91.0	96.0					7																	55214318		2203	4300	6503	SO:0001819	synonymous_variant	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55214318G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.444G>A	7.37:g.55214318G>A		TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.2_Silent_p.V148V|EGFR_uc003tqi.2_Silent_p.V148V|EGFR_uc003tqj.2_Silent_p.V148V|EGFR_uc010kzg.1_Intron|EGFR_uc011kco.1_Silent_p.V95V	p.V148V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		4	690	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		148			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	c.444G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	4.908	0.168710	0.09339	.	.	ENSG00000146648	ENST00000395504	.	.	.	5.6	2.52	0.30459	.	.	.	.	.	T	0.42314	0.1197	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.17592	-1.0364	5	0.24483	T	0.36	.	3.2606	0.06848	0.165:0.1131:0.5541:0.1679	.	.	.	.	T	20	.	ENSP00000378880:A20T	A	+	1	0	EGFR	55181812	1.000000	0.71417	0.979000	0.43373	0.405000	0.30901	1.089000	0.30890	0.739000	0.32628	-0.136000	0.14681	GCG		0.532	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2		NM_005228		15	102	0	0	0	0.006122	0	15	102		
POR	5447	broad.mit.edu	37	7	75615697	75615697	+	Nonsense_Mutation	SNP	C	C	A	rs572917118		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:75615697C>A	ENST00000461988.1	+	16	2046	c.1941C>A	c.(1939-1941)taC>taA	p.Y647*	POR_ENST00000450476.1_Missense_Mutation_p.T553K|POR_ENST00000545601.1_Nonsense_Mutation_p.Y455*|TMEM120A_ENST00000338761.4_RNA|TMEM120A_ENST00000493111.2_RNA|POR_ENST00000419840.1_Missense_Mutation_p.T348K|POR_ENST00000439269.1_Nonsense_Mutation_p.Y385*|POR_ENST00000394893.1_3'UTR	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	644					carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	ACACCTTCTACGACATCGTGG	0.632																																						uc003udy.2		NaN																	0				central_nervous_system(1)	1						c.(1939-1941)TAC>TAA		cytochrome P450 reductase	Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)						78.0	89.0	86.0					7																	75615697		2152	4252	6404	SO:0001587	stop_gained	5447				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity	g.chr7:75615697C>A	AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413	ENST00000461988.1:c.1941C>A	7.37:g.75615697C>A	ENSP00000419970:p.Tyr647*					POR_uc011kgc.1_Nonsense_Mutation_p.Y455*|POR_uc011kgd.1_Missense_Mutation_p.T553K|POR_uc011kge.1_Nonsense_Mutation_p.Y385*|POR_uc003uea.2_Nonsense_Mutation_p.Y134*	p.Y647*	NM_000941	NP_000932	P16435	NCPR_HUMAN			16	2023	+			644					Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	Nonsense_Mutation	SNP	ENST00000461988.1	37	c.1941C>A	CCDS5579.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.141714|5.141714	0.94560|0.94560	.|.	.|.	ENSG00000127948|ENSG00000127948	ENST00000419840;ENST00000450476|ENST00000461988;ENST00000447222;ENST00000545601;ENST00000439269	T;T|.	0.03663|.	3.85;4.22|.	3.86|3.86	-2.39|-2.39	0.06602|0.06602	.|.	.|0.137726	.|0.50627	.|D	.|0.000110	T|.	0.13114|.	0.0318|.	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999998|0.999998	B|.	0.24768|.	0.111|.	B|.	0.21151|.	0.033|.	T|.	0.34453|.	-0.9828|.	8|.	0.62326|0.02654	D|T	0.03|1	-16.4808|-16.4808	11.9112|11.9112	0.52739|0.52739	0.0:0.3325:0.0:0.6675|0.0:0.3325:0.0:0.6675	.|.	553|.	E7EVY7|.	.|.	K|X	348;553|647;704;455;385	ENSP00000414244:T348K;ENSP00000416572:T553K|.	ENSP00000414244:T348K|ENSP00000412490:Y385X	T|Y	+|+	2|3	0|2	POR|POR	75453633|75453633	0.001000|0.001000	0.12720|0.12720	0.477000|0.477000	0.27303|0.27303	0.914000|0.914000	0.54420|0.54420	-1.202000|-1.202000	0.03023|0.03023	-0.544000|-0.544000	0.06232|0.06232	-0.217000|-0.217000	0.12591|0.12591	ACG|TAC		0.632	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252796.7		NM_000941		17	88	1	0	1.55795e-14	0.012319	1.72894e-14	17	88		
RSBN1L	222194	broad.mit.edu	37	7	77326204	77326204	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:77326204C>T	ENST00000334955.8	+	1	445	c.418C>T	c.(418-420)Cac>Tac	p.H140Y	RSBN1L_ENST00000445288.1_5'Flank|RSBN1L-AS1_ENST00000440088.1_lincRNA	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	140						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGCTCAGCCTCACCATCTCCT	0.682																																						uc010ldt.1		NaN																	0				ovary(1)	1						c.(418-420)CAC>TAC		round spermatid basic protein 1-like							14.0	18.0	17.0					7																	77326204		2142	4232	6374	SO:0001583	missense	222194					nucleus		g.chr7:77326204C>T	AK124517	CCDS43607.1	7q21.11	2004-08-11			ENSG00000187257	ENSG00000187257			24765	protein-coding gene	gene with protein product						12477932	Standard	NM_198467		Approved	FLJ42526, FLJ45813, MGC71764	uc010ldt.1	Q6PCB5	OTTHUMG00000155517	ENST00000334955.8:c.418C>T	7.37:g.77326204C>T	ENSP00000334040:p.His140Tyr					RSBN1L_uc003ugm.2_5'Flank|uc003ugj.1_RNA	p.H140Y	NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN			1	462	+			140					C9K0P1|Q6ZS58|Q6ZVI9|Q86X48	Missense_Mutation	SNP	ENST00000334955.8	37	c.418C>T	CCDS43607.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.813362	0.32053	.	.	ENSG00000187257	ENST00000334955	T	0.08008	3.14	3.74	2.82	0.32997	.	0.868158	0.09660	N	0.772508	T	0.05502	0.0145	N	0.24115	0.695	0.80722	D	1	P	0.42296	0.775	B	0.32465	0.146	T	0.39941	-0.9589	10	0.59425	D	0.04	-3.1887	8.3818	0.32477	0.2346:0.7654:0.0:0.0	.	140	Q6PCB5	RSBNL_HUMAN	Y	140	ENSP00000334040:H140Y	ENSP00000334040:H140Y	H	+	1	0	RSBN1L	77164140	0.975000	0.34042	0.971000	0.41717	0.308000	0.27856	3.481000	0.53179	0.849000	0.35215	0.313000	0.20887	CAC		0.682	RSBN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340455.3		NM_198467		6	51	0	0	0	0.004482	0	6	51		
PCLO	27445	broad.mit.edu	37	7	82579040	82579040	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:82579040C>T	ENST00000333891.9	-	6	11201	c.10864G>A	c.(10864-10866)Gtc>Atc	p.V3622I	PCLO_ENST00000423517.2_Missense_Mutation_p.V3622I|PCLO_ENST00000437081.1_Missense_Mutation_p.V342I	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAGTAAAGGACTTTGGGGGAT	0.478																																						uc003uhx.2		NaN																	0				ovary(7)	7						c.(10864-10866)GTC>ATC		piccolo isoform 1							106.0	107.0	107.0					7																	82579040		2002	4184	6186	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82579040C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.10864G>A	7.37:g.82579040C>T	ENSP00000334319:p.Val3622Ile					PCLO_uc003uhv.2_Missense_Mutation_p.V3622I|PCLO_uc010lec.2_Missense_Mutation_p.V587I	p.V3622I	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			6	11153	-			3553						Missense_Mutation	SNP	ENST00000333891.9	37	c.10864G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.683183	0.47991	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.32988	1.43;1.46	5.61	5.61	0.85477	.	.	.	.	.	T	0.48114	0.1482	M	0.61703	1.905	0.47698	D	0.999499	P;P;P	0.51537	0.779;0.946;0.946	B;P;P	0.52758	0.293;0.708;0.708	T	0.47736	-0.9094	9	0.87932	D	0	.	19.6465	0.95778	0.0:1.0:0.0:0.0	.	3553;3622;3622	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	I	3553;3622;3622;342	ENSP00000334319:V3622I;ENSP00000388393:V3622I	ENSP00000334319:V3622I	V	-	1	0	PCLO	82416976	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.992000	0.70609	2.642000	0.89623	0.650000	0.86243	GTC		0.478	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5		NM_014510		18	99	0	0	0	0.006122	0	18	99		
PCLO	27445	broad.mit.edu	37	7	82579271	82579271	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:82579271C>T	ENST00000333891.9	-	6	10970	c.10633G>A	c.(10633-10635)Gcc>Acc	p.A3545T	PCLO_ENST00000423517.2_Missense_Mutation_p.A3545T|PCLO_ENST00000437081.1_Missense_Mutation_p.A265T	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTACCTTGGCATCCACTCGT	0.443																																						uc003uhx.2		NaN																	0				ovary(7)	7						c.(10633-10635)GCC>ACC		piccolo isoform 1							152.0	135.0	140.0					7																	82579271		1931	4141	6072	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82579271C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.10633G>A	7.37:g.82579271C>T	ENSP00000334319:p.Ala3545Thr					PCLO_uc003uhv.2_Missense_Mutation_p.A3545T|PCLO_uc010lec.2_Missense_Mutation_p.A510T	p.A3545T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			6	10922	-			3476						Missense_Mutation	SNP	ENST00000333891.9	37	c.10633G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	5.442	0.266737	0.10294	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.15834	2.39;2.39	5.61	4.72	0.59763	.	.	.	.	.	T	0.14013	0.0339	L	0.28694	0.88	0.40208	D	0.977592	B;B;B	0.24258	0.01;0.1;0.1	B;B;B	0.26310	0.007;0.068;0.068	T	0.05354	-1.0890	9	0.87932	D	0	.	10.022	0.42048	0.0:0.7892:0.139:0.0718	.	3476;3545;3545	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	T	3476;3545;3545;265	ENSP00000334319:A3545T;ENSP00000388393:A3545T	ENSP00000334319:A3545T	A	-	1	0	PCLO	82417207	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.872000	0.48467	1.346000	0.45694	0.655000	0.94253	GCC		0.443	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5		NM_014510		8	57	0	0	0	0.004482	0	8	57		
CDK14	5218	broad.mit.edu	37	7	90528655	90528655	+	Missense_Mutation	SNP	C	C	T	rs373874746		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:90528655C>T	ENST00000380050.3	+	7	820	c.689C>T	c.(688-690)cCa>cTa	p.P230L	CDK14_ENST00000406263.1_Missense_Mutation_p.P184L|CDK14_ENST00000265741.3_Missense_Mutation_p.P212L|CDK14_ENST00000436577.2_Missense_Mutation_p.P101L			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	230	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						GGGCTGCATCCAGATAATGTG	0.363																																					GBM(83;1228 1256 8311 16577 31299)	uc003uky.2		NaN																	0				lung(3)|ovary(1)	4						c.(688-690)CCA>CTA		PFTAIRE protein kinase 1		C	LEU/PRO	0,4406		0,0,2203	78.0	79.0	78.0		635	4.7	1.0	7		78	1,8597	1.2+/-3.3	0,1,4298	no	missense	CDK14	NM_012395.2	98	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	212/452	90528655	1,13003	2203	4299	6502	SO:0001583	missense	5218				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	g.chr7:90528655C>T		CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"""Cyclin-dependent kinases"""	8883	protein-coding gene	gene with protein product		610679	"""PFTAIRE protein kinase 1"""	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.689C>T	7.37:g.90528655C>T	ENSP00000369390:p.Pro230Leu					CDK14_uc003ukz.1_Missense_Mutation_p.P212L|CDK14_uc010les.1_Missense_Mutation_p.P184L|CDK14_uc011khl.1_Missense_Mutation_p.P101L	p.P230L	NM_012395	NP_036527	O94921	CDK14_HUMAN			7	911	+			230			Protein kinase.		A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Missense_Mutation	SNP	ENST00000380050.3	37	c.689C>T		.	.	.	.	.	.	.	.	.	.	C	13.73	2.324699	0.41197	0.0	1.16E-4	ENSG00000058091	ENST00000380050;ENST00000265741;ENST00000406263;ENST00000436577	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	4.74	4.74	0.60224	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66703	0.2816	N	0.25485	0.75	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.996;0.944;0.996	T	0.58640	-0.7601	10	0.10111	T	0.7	-9.8021	18.2888	0.90122	0.0:1.0:0.0:0.0	.	101;212;230	E7EUK8;O94921-2;O94921	.;.;CDK14_HUMAN	L	230;212;184;101	ENSP00000369390:P230L;ENSP00000265741:P212L;ENSP00000385034:P184L;ENSP00000398936:P101L	ENSP00000265741:P212L	P	+	2	0	CDK14	90366591	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.844000	0.69430	2.632000	0.89209	0.650000	0.86243	CCA		0.363	CDK14-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000059970.5		NM_012395		12	50	0	0	0	0.00499	0	12	50		
FZD1	8321	broad.mit.edu	37	7	90894816	90894816	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:90894816C>T	ENST00000287934.2	+	1	1034	c.621C>T	c.(619-621)ttC>ttT	p.F207F		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	207	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			AGTTCGGCTTCCAGTGGCCAG	0.701																																						uc003ula.2		NaN																	0					0						c.(619-621)TTC>TTT		frizzled 1 precursor							46.0	50.0	49.0					7																	90894816		2203	4299	6502	SO:0001819	synonymous_variant	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90894816C>T	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.621C>T	7.37:g.90894816C>T							p.F207F	NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		1	1034	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		207			FZ.|Extracellular (Potential).		A4D1E8|O94815|Q549T8	Silent	SNP	ENST00000287934.2	37	c.621C>T	CCDS5620.1																																																																																				0.701	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2		NM_003505		15	75	0	0	0	0.00499	0	15	75		
KRIT1	889	broad.mit.edu	37	7	91855114	91855114	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:91855114G>C	ENST00000340022.2	-	12	2192	c.1174C>G	c.(1174-1176)Cca>Gca	p.P392A	KRIT1_ENST00000412043.2_Missense_Mutation_p.P392A|KRIT1_ENST00000394505.2_Missense_Mutation_p.P392A|KRIT1_ENST00000394507.1_Missense_Mutation_p.P392A|KRIT1_ENST00000394503.2_Missense_Mutation_p.P344A	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	392					angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATATTTAATGGAGATCTTCCT	0.348																																						uc003ulq.1		NaN																	0				ovary(2)|lung(1)	3						c.(1174-1176)CCA>GCA		krev interaction trapped 1 isoform 1							95.0	95.0	95.0					7																	91855114		2201	4299	6500	SO:0001583	missense	889	Familial_Cerebral_Cavernous_Angioma			angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity	g.chr7:91855114G>C	AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"""Ankyrin repeat domain containing"""	1573	protein-coding gene	gene with protein product		604214	"""cerebral cavernous malformations 1"""	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.1174C>G	7.37:g.91855114G>C	ENSP00000344668:p.Pro392Ala					KRIT1_uc010lev.1_Intron|KRIT1_uc003ulr.1_Missense_Mutation_p.P392A|KRIT1_uc003uls.1_Missense_Mutation_p.P392A|KRIT1_uc003ult.1_Missense_Mutation_p.P344A|KRIT1_uc003ulu.1_Missense_Mutation_p.P392A|KRIT1_uc003ulv.1_Missense_Mutation_p.P392A	p.P392A	NM_194456	NP_919438	O00522	KRIT1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		10	1345	-	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		392			ANK 4.		A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Missense_Mutation	SNP	ENST00000340022.2	37	c.1174C>G	CCDS5624.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.304371	0.81136	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503;ENST00000415227;ENST00000445516	T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39	5.29	5.29	0.74685	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.86665	0.5987	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.98	D	0.86287	0.1671	10	0.45353	T	0.12	-11.4177	18.9199	0.92520	0.0:0.0:1.0:0.0	.	344;392	A6NNU0;O00522	.;KRIT1_HUMAN	A	392;392;392;392;344;392;154	ENSP00000378015:P392A;ENSP00000344668:P392A;ENSP00000410909:P392A;ENSP00000378013:P392A;ENSP00000378011:P344A;ENSP00000404084:P154A	ENSP00000344668:P392A	P	-	1	0	KRIT1	91693050	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.369000	0.97156	2.444000	0.82710	0.467000	0.42956	CCA		0.348	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1				11	87	0	0	0	0.008291	0	11	87		
GPC2	221914	broad.mit.edu	37	7	99771457	99771457	+	Splice_Site	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:99771457C>A	ENST00000292377.2	-	5	1060		c.e5+1		GPC2_ENST00000471050.1_Splice_Site	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2						carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuron differentiation (GO:0030182)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	anchored component of membrane (GO:0031225)|endoplasmic reticulum (GO:0005783)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AATCCCCTCACCCAGATAGTT	0.597																																						uc003utv.2		NaN																	0				breast(1)|pancreas(1)	2						c.e5+1		glypican 2 precursor							161.0	171.0	168.0					7																	99771457		2203	4300	6503	SO:0001630	splice_region_variant	221914					anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr7:99771457C>A	BX375153	CCDS5689.1	7q22.1	2007-02-16	2007-02-15		ENSG00000213420	ENSG00000213420		"""Proteoglycans / Cell Surface : Glypicans"""	4450	protein-coding gene	gene with protein product	"""glypican proteoglycan 2, cerebroglycan proteoglycan"""		"""glypican 2 (cerebroglycan)"""			8294498	Standard	NM_152742		Approved	cerebroglycan, FLJ38962, DKFZp547M109	uc003utv.3	Q8N158	OTTHUMG00000154894	ENST00000292377.2:c.892+1G>T	7.37:g.99771457C>A						GPC2_uc010lgr.2_Intron|GPC2_uc003utw.1_3'UTR	p.D298_splice	NM_152742	NP_689955	Q8N158	GPC2_HUMAN			5	1060	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)							A4D2A7	Splice_Site	SNP	ENST00000292377.2	37	c.892_splice	CCDS5689.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.109867	0.77096	.	.	ENSG00000213420	ENST00000292377	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1669	0.72837	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GPC2	99609393	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.662000	0.74426	2.163000	0.67991	0.491000	0.48974	.		0.597	GPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337556.1		NM_152742	Intron	56	628	1	0	3.13765e-25	0.01441	3.59605e-25	56	628		
CUX1	1523	broad.mit.edu	37	7	101882763	101882763	+	Silent	SNP	G	G	T	rs140169027		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:101882763G>T	ENST00000292535.7	+	23	3824	c.3786G>T	c.(3784-3786)gcG>gcT	p.A1262A	CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Silent_p.A1273A|CUX1_ENST00000549414.2_Silent_p.A1240A|CUX1_ENST00000550008.2_Silent_p.A1206A|CUX1_ENST00000547394.2_Intron|AC005088.1_ENST00000580604.1_RNA|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Silent_p.A1104A|CUX1_ENST00000546411.2_Silent_p.A1160A	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	1262					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TGAAACGAGCGTATCAGCAAA	0.597																																						uc003uyx.3		NaN																	0				ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(3784-3786)GCG>GCT		cut-like homeobox 1 isoform a							113.0	109.0	110.0					7																	101882763		2203	4300	6503	SO:0001819	synonymous_variant	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101882763G>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.3786G>T	7.37:g.101882763G>T						CUX1_uc003uys.3_Silent_p.A1273A|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	p.A1262A	NM_181552	NP_853530	P39880	CUX1_HUMAN			23	3824	+			1262			Homeobox.		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	ENST00000292535.7	37	c.3786G>T	CCDS5721.1																																																																																				0.597	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1		NM_001913		28	87	1	0	2.61193e-14	0.009535	2.88454e-14	28	87		
LAMB4	22798	broad.mit.edu	37	7	107706844	107706844	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:107706844C>A	ENST00000388781.3	-	20	2731	c.2648G>T	c.(2647-2649)gGa>gTa	p.G883V	LAMB4_ENST00000205386.4_Missense_Mutation_p.G883V|LAMB4_ENST00000388780.3_Missense_Mutation_p.G883V	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	883	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGTAAAGCCTCCACAATTGAA	0.428																																						uc010ljo.1		NaN																	0				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						c.(2647-2649)GGA>GTA		laminin, beta 4 precursor							66.0	61.0	63.0					7																	107706844		2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107706844C>A	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.2648G>T	7.37:g.107706844C>A	ENSP00000373433:p.Gly883Val					LAMB4_uc003vey.2_Missense_Mutation_p.G883V|LAMB4_uc010ljp.1_5'Flank	p.G883V	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			20	2732	-			883			Laminin EGF-like 8.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.2648G>T	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.886859	0.33348	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780	T;T;T	0.62364	0.03;0.03;0.03	4.98	1.07	0.20283	EGF-like, laminin (4);	0.696295	0.13001	N	0.421636	T	0.49440	0.1557	N	0.22421	0.69	0.19945	N	0.999941	P	0.38335	0.627	B	0.42112	0.376	T	0.41963	-0.9479	10	0.59425	D	0.04	.	8.7814	0.34794	0.0:0.6299:0.0:0.3701	.	883	A4D0S4	LAMB4_HUMAN	V	883	ENSP00000205386:G883V;ENSP00000373433:G883V;ENSP00000373432:G883V	ENSP00000205386:G883V	G	-	2	0	LAMB4	107494080	0.002000	0.14202	0.008000	0.14137	0.806000	0.45545	1.696000	0.37773	0.284000	0.22305	0.563000	0.77884	GGA		0.428	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1		XM_209857		7	49	1	0	1.12685e-05	0.004482	1.17866e-05	7	49		
LMOD2	442721	broad.mit.edu	37	7	123302814	123302814	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:123302814T>C	ENST00000458573.2	+	2	1331	c.1174T>C	c.(1174-1176)Tct>Cct	p.S392P	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	392	Pro-rich.					cytoskeleton (GO:0005856)											ACCTTATGTATCTCCCAGGCA	0.537																																						uc003vky.2		NaN																	0					0						c.(1174-1176)TCT>CCT		leiomodin 2 (cardiac)							97.0	97.0	97.0					7																	123302814		1981	4156	6137	SO:0001583	missense	442721					cytoskeleton	actin binding|tropomyosin binding	g.chr7:123302814T>C	AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.1174T>C	7.37:g.123302814T>C	ENSP00000411932:p.Ser392Pro						p.S392P	NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN			2	1331	+			392			Pro-rich.		A4D0W9|A4D0Y2|Q8WVJ8	Missense_Mutation	SNP	ENST00000458573.2	37	c.1174T>C	CCDS47693.1	.	.	.	.	.	.	.	.	.	.	T	19.60	3.857329	0.71834	.	.	ENSG00000170807	ENST00000458573;ENST00000444702;ENST00000332074	D	0.92911	-3.13	5.29	5.29	0.74685	.	.	.	.	.	D	0.94788	0.8317	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93373	0.6737	9	0.25106	T	0.35	.	15.5207	0.75862	0.0:0.0:0.0:1.0	.	392	Q6P5Q4	LMOD2_HUMAN	P	392;352;363	ENSP00000411932:S392P	ENSP00000405123:S363P	S	+	1	0	LMOD2	123090050	1.000000	0.71417	0.888000	0.34837	0.655000	0.38815	7.950000	0.87804	2.133000	0.65898	0.260000	0.18958	TCT		0.537	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1				13	90	0	0	0	0.001855	0	13	90		
IRF5	3663	broad.mit.edu	37	7	128586051	128586051	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:128586051G>C	ENST00000402030.2	+	3	420	c.348G>C	c.(346-348)aaG>aaC	p.K116N	IRF5_ENST00000477535.1_Missense_Mutation_p.K116N|IRF5_ENST00000357234.5_Missense_Mutation_p.K116N|IRF5_ENST00000249375.4_Missense_Mutation_p.K116N|IRF5_ENST00000473745.1_Missense_Mutation_p.K116N	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	116					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						AGCCCTACAAGATCTACGAGG	0.637																																						uc003vog.2		NaN																	0					0						c.(346-348)AAG>AAC		interferon regulatory factor 5 isoform a							81.0	68.0	73.0					7																	128586051		2203	4300	6503	SO:0001583	missense	3663				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:128586051G>C		CCDS5808.1, CCDS43645.1, CCDS56512.1	7q32	2008-07-18			ENSG00000128604	ENSG00000128604			6120	protein-coding gene	gene with protein product		607218					Standard	XM_005250317		Approved		uc003vog.3	Q13568	OTTHUMG00000158410	ENST00000402030.2:c.348G>C	7.37:g.128586051G>C	ENSP00000385352:p.Lys116Asn					IRF5_uc010llr.1_Missense_Mutation_p.K116N|IRF5_uc011kot.1_Missense_Mutation_p.K116N|IRF5_uc011kou.1_Missense_Mutation_p.K116N|IRF5_uc010lls.1_Missense_Mutation_p.K116N|IRF5_uc003voh.2_Missense_Mutation_p.K116N|IRF5_uc010llt.2_Missense_Mutation_p.K116N|IRF5_uc003voi.2_Missense_Mutation_p.K116N|IRF5_uc010llu.1_Missense_Mutation_p.K116N|IRF5_uc003vok.2_Missense_Mutation_p.K116N|IRF5_uc003voj.3_Missense_Mutation_p.K116N|IRF5_uc010llv.1_Missense_Mutation_p.K116N|IRF5_uc010llw.1_Missense_Mutation_p.K116N	p.K116N	NM_002200	NP_002191	Q13568	IRF5_HUMAN			3	469	+			116			IRF tryptophan pentad repeat.		A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Missense_Mutation	SNP	ENST00000402030.2	37	c.348G>C	CCDS5808.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090464	0.76756	.	.	ENSG00000128604	ENST00000489702;ENST00000357234;ENST00000477535;ENST00000430204;ENST00000479582;ENST00000402030;ENST00000249375;ENST00000453794;ENST00000473745;ENST00000412326	D;D;D;D;D;D;D	0.98550	-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99	5.01	5.01	0.66863	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (3);	0.180758	0.38897	N	0.001531	D	0.99193	0.9720	M	0.93550	3.43	0.54753	D	0.999986	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.999;1.0;0.999;1.0;0.999;0.998;0.996	D	0.99174	1.0865	10	0.87932	D	0	-12.4967	15.8093	0.78543	0.0:0.0:1.0:0.0	.	116;116;116;116;116;116;116;116	B4DLN8;B7Z1M2;F5H3H8;E7EW54;E9PC81;Q1A7B4;Q13568;Q13568-2	.;.;.;.;.;.;IRF5_HUMAN;.	N	116	ENSP00000418037:K116N;ENSP00000349770:K116N;ENSP00000419950:K116N;ENSP00000417770:K116N;ENSP00000385352:K116N;ENSP00000249375:K116N;ENSP00000419149:K116N	ENSP00000249375:K116N	K	+	3	2	IRF5	128373287	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.123000	0.31308	2.326000	0.78906	0.455000	0.32223	AAG		0.637	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350934.1		NM_001098627		6	71	0	0	0	0.004482	0	6	71		
CPA2	1358	broad.mit.edu	37	7	129929559	129929559	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:129929559T>C	ENST00000222481.4	+	11	1287	c.1232T>C	c.(1231-1233)aTg>aCg	p.M411T		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	411					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					AAGGCAATCATGGAGCATGTG	0.522																																						uc003vpq.2		NaN																	0				ovary(1)	1						c.(1231-1233)ATG>ACG		carboxypeptidase A2 (pancreatic) precursor							92.0	89.0	90.0					7																	129929559		2203	4300	6503	SO:0001583	missense	1358				proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129929559T>C	U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.1232T>C	7.37:g.129929559T>C	ENSP00000222481:p.Met411Thr						p.M411T	NM_001869	NP_001860	P48052	CBPA2_HUMAN			11	1251	+	Melanoma(18;0.0435)		411					A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Missense_Mutation	SNP	ENST00000222481.4	37	c.1232T>C	CCDS5817.2	.	.	.	.	.	.	.	.	.	.	T	14.41	2.526794	0.44969	.	.	ENSG00000158516	ENST00000222481	T	0.03301	3.98	5.13	5.13	0.70059	.	0.091249	0.64402	D	0.000001	T	0.15089	0.0364	M	0.67953	2.075	0.53005	D	0.999962	D	0.56746	0.977	D	0.75020	0.985	T	0.01504	-1.1338	10	0.33940	T	0.23	.	14.1538	0.65405	0.0:0.0:0.0:1.0	.	411	P48052	CBPA2_HUMAN	T	411	ENSP00000222481:M411T	ENSP00000222481:M411T	M	+	2	0	CPA2	129716795	1.000000	0.71417	1.000000	0.80357	0.393000	0.30537	6.283000	0.72646	1.942000	0.56320	0.459000	0.35465	ATG		0.522	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347124.2		NM_001869		29	124	0	0	0	0.012213	0	29	124		
TMUB1	83590	broad.mit.edu	37	7	150779465	150779465	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:150779465C>A	ENST00000392818.3	-	2	543	c.186G>T	c.(184-186)atG>atT	p.M62I	FASTK_ENST00000353841.2_5'Flank|TMUB1_ENST00000482202.1_Missense_Mutation_p.M62I|FASTK_ENST00000540185.1_5'Flank|TMUB1_ENST00000476627.1_Missense_Mutation_p.M62I|TMUB1_ENST00000462940.1_Missense_Mutation_p.M62I|FASTK_ENST00000489884.1_5'Flank|TMUB1_ENST00000297533.4_Missense_Mutation_p.M62I|FASTK_ENST00000482571.1_5'Flank|FASTK_ENST00000297532.6_5'Flank	NM_031434.3	NP_113622.1	Q9BVT8	TMUB1_HUMAN	transmembrane and ubiquitin-like domain containing 1	62						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTCCCCTCTCATGCTGTCGG	0.687																																						uc003wjb.2		NaN																	0					0						c.(184-186)ATG>ATT		transmembrane and ubiquitin-like domain							62.0	73.0	70.0					7																	150779465		2203	4300	6503	SO:0001583	missense	83590					cytoplasm|integral to membrane|nucleus		g.chr7:150779465C>A	BC000936	CCDS5920.1	7q36.1	2006-06-27	2006-06-27	2006-06-27	ENSG00000164897	ENSG00000164897			21709	protein-coding gene	gene with protein product		614792	"""chromosome 7 open reading frame 21"""	C7orf21			Standard	NM_001136044		Approved	SB144	uc003wjd.3	Q9BVT8	OTTHUMG00000158621	ENST00000392818.3:c.186G>T	7.37:g.150779465C>A	ENSP00000376565:p.Met62Ile					FASTK_uc003wiw.1_5'Flank|FASTK_uc003wix.1_5'Flank|FASTK_uc003wiy.1_5'Flank|FASTK_uc003wiz.1_5'Flank|FASTK_uc003wja.1_5'Flank|TMUB1_uc003wjc.2_Missense_Mutation_p.M62I|TMUB1_uc003wjd.2_Missense_Mutation_p.M62I	p.M62I	NM_031434	NP_113622	Q9BVT8	TMUB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	301	-			62					D3DX06|Q53AQ2	Missense_Mutation	SNP	ENST00000392818.3	37	c.186G>T	CCDS5920.1	.	.	.	.	.	.	.	.	.	.	C	1.529	-0.544780	0.04024	.	.	ENSG00000164897	ENST00000297533;ENST00000392818;ENST00000462940;ENST00000482202;ENST00000476627;ENST00000488752;ENST00000492838	T;T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06;1.06	4.96	3.01	0.34805	.	0.889887	0.09666	N	0.771801	T	0.17280	0.0415	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16988	-1.0384	10	0.33940	T	0.23	-0.1216	10.8728	0.46894	0.0:0.3938:0.6062:0.0	.	62	Q9BVT8	TMUB1_HUMAN	I	62	ENSP00000297533:M62I;ENSP00000376565:M62I;ENSP00000417519:M62I;ENSP00000418709:M62I;ENSP00000419214:M62I;ENSP00000420692:M62I;ENSP00000420516:M62I	ENSP00000297533:M62I	M	-	3	0	TMUB1	150410398	0.001000	0.12720	0.154000	0.22540	0.120000	0.20174	1.201000	0.32259	1.066000	0.40716	0.305000	0.20034	ATG		0.687	TMUB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351485.1		NM_031434		20	134	1	0	3.7963e-18	0.00333	4.26498e-18	20	134		
KMT2C	58508	broad.mit.edu	37	7	151919766	151919766	+	Splice_Site	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:151919766A>G	ENST00000262189.6	-	21	3543	c.3325T>C	c.(3325-3327)Tgg>Cgg	p.W1109R	KMT2C_ENST00000355193.2_Splice_Site_p.W1109R	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1109					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GCATGCATCCATCTAAAAAGA	0.348																																						uc003wla.2		NaN								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(3325-3327)TGG>CGG		myeloid/lymphoid or mixed-lineage leukemia 3							41.0	34.0	36.0					7																	151919766		2201	4295	6496	SO:0001630	splice_region_variant	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151919766A>G	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3324-1T>C	7.37:g.151919766A>G						MLL3_uc003wkz.2_Missense_Mutation_p.W170R	p.W1109R	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	21	3544	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	1109			PHD-type 6.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.3325T>C	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	A	18.57	3.653003	0.67472	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	T;T	0.70869	-0.52;-0.52	5.73	5.73	0.89815	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.44097	D	0.000487	D	0.85353	0.5677	M	0.84219	2.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.87592	0.2491	10	0.87932	D	0	.	16.0189	0.80464	1.0:0.0:0.0:0.0	.	1109;170	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	R	1109	ENSP00000262189:W1109R;ENSP00000347325:W1109R	ENSP00000262189:W1109R	W	-	1	0	MLL3	151550699	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.759000	0.91667	2.183000	0.69458	0.528000	0.53228	TGG		0.348	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			Missense_Mutation	6	33	0	0	0	0.001984	0	6	33		
RP1L1	94137	broad.mit.edu	37	8	10466033	10466033	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr8:10466033C>T	ENST00000382483.3	-	4	5798	c.5575G>A	c.(5575-5577)Gat>Aat	p.D1859N		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1939					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCCTGGGCATCCCCTTCTGCC	0.627																																						uc003wtc.2		NaN																	0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(5575-5577)GAT>AAT		retinitis pigmentosa 1-like 1							160.0	172.0	168.0					8																	10466033		1914	4122	6036	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10466033C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5575G>A	8.37:g.10466033C>T	ENSP00000371923:p.Asp1859Asn						p.D1859N	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	5804	-			1859					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.5575G>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	0.953	-0.705729	0.03255	.	.	ENSG00000183638	ENST00000382483	T	0.04156	3.69	1.55	0.467	0.16721	.	.	.	.	.	T	0.02418	0.0074	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46830	-0.9163	9	0.28530	T	0.3	.	5.8326	0.18588	0.0:0.7785:0.0:0.2215	.	1859	A6NKC6	.	N	1859	ENSP00000371923:D1859N	ENSP00000371923:D1859N	D	-	1	0	RP1L1	10503443	0.000000	0.05858	0.002000	0.10522	0.012000	0.07955	0.072000	0.14617	0.471000	0.27319	0.174000	0.16983	GAT		0.627	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1				14	323	0	0	0	0.006122	0	14	323		
SDR16C5	195814	broad.mit.edu	37	8	57228822	57228822	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr8:57228822C>T	ENST00000303749.3	-	2	722	c.85G>A	c.(85-87)Gcc>Acc	p.A29T	SDR16C5_ENST00000522671.1_Missense_Mutation_p.A29T|SDR16C5_ENST00000396721.2_Missense_Mutation_p.A29T	NM_138969.2	NP_620419.2	Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	29					detection of light stimulus involved in visual perception (GO:0050908)|keratinocyte proliferation (GO:0043616)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	retinol dehydrogenase activity (GO:0004745)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						GGGAGTAAGGCAAAAATCATA	0.458																																						uc003xsy.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(85-87)GCC>ACC		epidermal retinal dehydrogenase 2							82.0	76.0	78.0					8																	57228822		2203	4300	6503	SO:0001583	missense	195814				detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity	g.chr8:57228822C>T		CCDS6167.1	8q12.1	2011-09-20			ENSG00000170786	ENSG00000170786	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	30311	protein-coding gene	gene with protein product		608989				12372410	Standard	NM_138969		Approved	RDHE2, RDH-E2	uc003xsy.1	Q8N3Y7	OTTHUMG00000164311	ENST00000303749.3:c.85G>A	8.37:g.57228822C>T	ENSP00000307607:p.Ala29Thr					SDR16C5_uc010lyk.1_Missense_Mutation_p.A29T|SDR16C5_uc010lyl.1_Missense_Mutation_p.A29T	p.A29T	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN			2	723	-			29			Helical; (Potential).		B4DGK2|Q330K3|Q8TDV9|Q96LX1	Missense_Mutation	SNP	ENST00000303749.3	37	c.85G>A	CCDS6167.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.338393	0.24253	.	.	ENSG00000170786	ENST00000396721;ENST00000303749;ENST00000522671;ENST00000538514	T;D;D	0.81996	-1.23;-1.55;-1.56	5.25	-10.5	0.00291	.	1.651440	0.02841	N	0.127980	T	0.46600	0.1401	N	0.00483	-1.445	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.11329	0.004;0.006;0.001	T	0.52049	-0.8627	10	0.20046	T	0.44	.	3.9492	0.09361	0.4042:0.379:0.0792:0.1376	.	29;29;29	Q8N3Y7-2;G3V145;Q8N3Y7	.;.;RDHE2_HUMAN	T	29	ENSP00000379947:A29T;ENSP00000307607:A29T;ENSP00000431010:A29T	ENSP00000307607:A29T	A	-	1	0	SDR16C5	57391376	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.503000	0.02277	-2.201000	0.00746	-0.471000	0.05019	GCC		0.458	SDR16C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378235.1		NM_138969		19	65	0	0	0	0.003954	0	19	65		
MTDH	92140	broad.mit.edu	37	8	98703239	98703239	+	Missense_Mutation	SNP	G	G	C	rs374958909		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr8:98703239G>C	ENST00000336273.3	+	6	1199	c.871G>C	c.(871-873)Gta>Cta	p.V291L	MTDH_ENST00000519934.1_Missense_Mutation_p.V268L	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	291					lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			TGAAAAGTCTGTAAAACTCTC	0.418																																						uc003yhz.2		NaN																	0				liver(1)|central_nervous_system(1)	2						c.(871-873)GTA>CTA		metadherin							77.0	80.0	79.0					8																	98703239		2203	4300	6503	SO:0001583	missense	92140				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity	g.chr8:98703239G>C	AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"""astrocyte elevated gene 1"""	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.871G>C	8.37:g.98703239G>C	ENSP00000338235:p.Val291Leu					MTDH_uc010mbf.2_RNA	p.V291L	NM_178812	NP_848927	Q86UE4	LYRIC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.178)		6	1199	+	Breast(36;2.56e-06)		291			Cytoplasmic (Potential).		Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Missense_Mutation	SNP	ENST00000336273.3	37	c.871G>C	CCDS6274.1	.	.	.	.	.	.	.	.	.	.	G	9.994	1.231592	0.22626	.	.	ENSG00000147649	ENST00000336273;ENST00000519934	T;T	0.48201	0.85;0.82	6.01	-8.43	0.00953	.	1.367590	0.04089	N	0.310908	T	0.40619	0.1124	L	0.29908	0.895	0.30567	N	0.763871	B	0.13145	0.007	B	0.15870	0.014	T	0.34775	-0.9815	10	0.26408	T	0.33	2.6298	24.8068	0.99991	0.1195:0.0:0.8805:0.0	.	291	Q86UE4	LYRIC_HUMAN	L	291;268	ENSP00000338235:V291L;ENSP00000428168:V268L	ENSP00000338235:V291L	V	+	1	0	MTDH	98772415	0.869000	0.29996	0.384000	0.26145	0.980000	0.70556	-0.122000	0.10627	-1.718000	0.01383	-0.312000	0.09012	GTA		0.418	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379772.2				6	60	0	0	0	0.00308	0	6	60		
ZNF250	58500	broad.mit.edu	37	8	146108216	146108216	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr8:146108216C>T	ENST00000292579.7	-	6	483	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.E118K	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	123					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		CCCTTGGTTTCACATTCTGAA	0.413																																					NSCLC(16;520 556 24096 40084 43446)	uc003zeq.3		NaN																	0					0						c.(367-369)GAA>AAA		zinc finger protein 250 isoform a							118.0	123.0	121.0					8																	146108216		2203	4300	6503	SO:0001583	missense	58500				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146108216C>T	AK095705	CCDS34972.1, CCDS55282.1	8q24.3	2013-01-08	2004-11-08			ENSG00000196150		"""Zinc fingers, C2H2-type"", ""-"""	13044	protein-coding gene	gene with protein product			"""zinc finger protein 647"""	ZNF647		12477932	Standard	NM_021061		Approved	MGC9718, ZFP647	uc003zer.4	P15622		ENST00000292579.7:c.367G>A	8.37:g.146108216C>T	ENSP00000292579:p.Glu123Lys					COMMD5_uc010mgf.2_Intron|ZNF250_uc003zer.3_Missense_Mutation_p.E118K|ZNF250_uc010mgg.2_Missense_Mutation_p.E118K	p.E123K	NM_021061	NP_066405	P15622	ZN250_HUMAN	Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)	6	484	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		123					D3DWP1|Q59HE9|Q8N942|Q96AH9	Missense_Mutation	SNP	ENST00000292579.7	37	c.367G>A	CCDS34972.1	.	.	.	.	.	.	.	.	.	.	C	1.200	-0.632724	0.03584	.	.	ENSG00000196150	ENST00000292579;ENST00000417550;ENST00000394912;ENST00000533221;ENST00000533622;ENST00000525694	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	4.03	0.948	0.19561	.	0.484707	0.17257	N	0.180918	T	0.15132	0.0365	N	0.13140	0.3	0.39853	D	0.973274	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.23797	-1.0178	10	0.05721	T	0.95	-2.6949	6.2791	0.20997	0.0:0.4437:0.0:0.5563	.	118;123	D3DWP1;P15622	.;ZN250_HUMAN	K	123;118;118;97;118;118	ENSP00000292579:E123K;ENSP00000393442:E118K;ENSP00000433387:E118K;ENSP00000432450:E118K	ENSP00000292579:E123K	E	-	1	0	ZNF250	146079020	0.010000	0.17322	0.232000	0.24009	0.114000	0.19823	0.797000	0.26999	0.186000	0.20125	0.313000	0.20887	GAA		0.413	ZNF250-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382968.1		NM_021061		11	167	0	0	0	0.001855	0	11	167		
VPS13A	23230	broad.mit.edu	37	9	79960014	79960014	+	Silent	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:79960014C>G	ENST00000360280.3	+	52	7505	c.7245C>G	c.(7243-7245)ctC>ctG	p.L2415L	VPS13A_ENST00000376636.3_Silent_p.L2376L|VPS13A_ENST00000376634.4_Silent_p.L2415L|VPS13A_ENST00000357409.5_Silent_p.L2415L	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2415					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTACATTCCTCTTAATAAATC	0.343																																						uc004akr.2		NaN																	0				pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						c.(7243-7245)CTC>CTG		vacuolar protein sorting 13A isoform A							145.0	144.0	144.0					9																	79960014		2202	4299	6501	SO:0001819	synonymous_variant	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79960014C>G	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.7245C>G	9.37:g.79960014C>G						VPS13A_uc004akp.3_Silent_p.L2415L|VPS13A_uc004akq.3_Silent_p.L2415L|VPS13A_uc004aks.2_Silent_p.L2376L	p.L2415L	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN			52	7505	+			2415					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Silent	SNP	ENST00000360280.3	37	c.7245C>G	CCDS6655.1																																																																																				0.343	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2		NM_015186		14	131	0	0	0	0.004007	0	14	131		
ERCC6L2	375748	broad.mit.edu	37	9	98691012	98691012	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:98691012G>A	ENST00000288985.7	+	11	1955	c.1650G>A	c.(1648-1650)gtG>gtA	p.V550V	ERCC6L2_ENST00000437817.1_Silent_p.V361V|ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	550	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										TGCTTGACGTGCTACAGCAGT	0.393																																						uc004avt.3		NaN																	0					0						c.(1648-1650)GTG>GTA		RAD26L hypothetical protein							143.0	126.0	131.0					9																	98691012		2203	4300	6503	SO:0001819	synonymous_variant	375748				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	g.chr9:98691012G>A	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.1650G>A	9.37:g.98691012G>A						C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Silent_p.V252V|C9orf102_uc010mry.1_Silent_p.V252V|C9orf102_uc010mrz.2_Silent_p.V361V|C9orf102_uc004avu.2_5'UTR	p.V550V	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN			11	2038	+		Acute lymphoblastic leukemia(62;0.0559)	550			Helicase C-terminal.		A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Silent	SNP	ENST00000288985.7	37	c.1650G>A	CCDS35072.1																																																																																				0.393	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053247.2		NM_001010895		22	103	0	0	0	0.007291	0	22	103		
C9orf156	51531	broad.mit.edu	37	9	100667070	100667070	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:100667070G>A	ENST00000375119.3	-	5	1347	c.1271C>T	c.(1270-1272)tCt>tTt	p.S424F		NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	424					viral process (GO:0016032)		hydrolase activity (GO:0016787)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				AACAGGCTCAGAAGCCGGCTT	0.502																																						uc004axv.1		NaN																	0					0						c.(1270-1272)TCT>TTT		Nef associated protein 1							110.0	106.0	107.0					9																	100667070		2203	4300	6503	SO:0001583	missense	51531				interspecies interaction between organisms		hydrolase activity	g.chr9:100667070G>A	AK023069	CCDS6730.1	9q31.1	2011-03-02			ENSG00000136932	ENSG00000136932			30967	protein-coding gene	gene with protein product	"""Nef (lentivirus myristoylated factor) associated protein 1"""						Standard	NM_016481		Approved	HSPC219, NAP1	uc004axv.1	Q9BU70	OTTHUMG00000021007	ENST00000375119.3:c.1271C>T	9.37:g.100667070G>A	ENSP00000364260:p.Ser424Phe					C9orf156_uc004axw.1_Missense_Mutation_p.S321F|C9orf156_uc004axx.1_Missense_Mutation_p.S278F	p.S424F	NM_016481	NP_057565	Q9BU70	NAP1_HUMAN			5	1348	-		Acute lymphoblastic leukemia(62;0.158)	424					Q5T113|Q86SK0|Q9NXJ7|Q9P0Q7	Missense_Mutation	SNP	ENST00000375119.3	37	c.1271C>T	CCDS6730.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506484	0.64410	.	.	ENSG00000136932	ENST00000375119;ENST00000375118	T;T	0.34472	1.79;1.36	4.24	4.24	0.50183	.	1.156800	0.06117	N	0.668291	T	0.52141	0.1716	L	0.60455	1.87	0.41054	D	0.985324	D;P	0.54207	0.965;0.947	P;P	0.54312	0.748;0.556	T	0.45745	-0.9240	10	0.72032	D	0.01	-11.7949	12.4457	0.55649	0.0:0.0:1.0:0.0	.	278;424	Q5T114;Q9BU70	.;NAP1_HUMAN	F	424;278	ENSP00000364260:S424F;ENSP00000364259:S278F	ENSP00000364259:S278F	S	-	2	0	C9orf156	99706891	0.077000	0.21312	0.042000	0.18584	0.042000	0.13812	2.084000	0.41625	2.634000	0.89283	0.655000	0.94253	TCT		0.502	C9orf156-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055401.1		NM_016481		14	109	0	0	0	0.00245	0	14	109		
PTPN3	5774	broad.mit.edu	37	9	112151539	112151539	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:112151539A>G	ENST00000374541.2	-	22	2331	c.2227T>C	c.(2227-2229)Ttg>Ctg	p.L743L	PTPN3_ENST00000394827.3_Silent_p.L211L|PTPN3_ENST00000446349.1_Silent_p.L567L|PTPN3_ENST00000412145.1_Silent_p.L612L|PTPN3_ENST00000262539.3_Silent_p.L589L|PTPN3_ENST00000497739.1_5'UTR	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	743	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						AGAGTCGTCAACATGACAATG	0.502																																						uc004bed.2		NaN																	0				ovary(3)	3						c.(2227-2229)TTG>CTG		protein tyrosine phosphatase, non-receptor type							95.0	78.0	84.0					9																	112151539		2203	4300	6503	SO:0001819	synonymous_variant	5774				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112151539A>G		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.2227T>C	9.37:g.112151539A>G						PTPN3_uc004beb.2_Silent_p.L612L|PTPN3_uc004bec.2_Silent_p.L567L|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Silent_p.L698L|PTPN3_uc011lwh.1_Silent_p.L589L|PTPN3_uc011lwd.1_Silent_p.L211L|PTPN3_uc011lwe.1_Silent_p.L456L|PTPN3_uc011lwf.1_Silent_p.L411L	p.L743L	NM_002829	NP_002820	P26045	PTN3_HUMAN			22	2339	-			743			Tyrosine-protein phosphatase.		A0AUW9|E7EN99|E9PGU7	Silent	SNP	ENST00000374541.2	37	c.2227T>C	CCDS6776.1																																																																																				0.502	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4				9	74	0	0	0	0.010729	0	9	74		
PTPN3	5774	broad.mit.edu	37	9	112189306	112189306	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:112189306G>A	ENST00000374541.2	-	12	1029	c.925C>T	c.(925-927)Cag>Tag	p.Q309*	PTPN3_ENST00000446349.1_Nonsense_Mutation_p.Q178*|PTPN3_ENST00000412145.1_Nonsense_Mutation_p.Q178*|PTPN3_ENST00000262539.3_Nonsense_Mutation_p.Q200*	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	309	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TTCTTTGCCTGAAAGAACGTA	0.448																																						uc004bed.2		NaN																	0				ovary(3)	3						c.(925-927)CAG>TAG		protein tyrosine phosphatase, non-receptor type							156.0	137.0	143.0					9																	112189306		2203	4300	6503	SO:0001587	stop_gained	5774				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112189306G>A		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.925C>T	9.37:g.112189306G>A	ENSP00000363667:p.Gln309*					PTPN3_uc004beb.2_Nonsense_Mutation_p.Q178*|PTPN3_uc004bec.2_Nonsense_Mutation_p.Q178*|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Nonsense_Mutation_p.Q309*|PTPN3_uc011lwh.1_Nonsense_Mutation_p.Q200*|PTPN3_uc011lwe.1_Nonsense_Mutation_p.Q22*|PTPN3_uc011lwf.1_Nonsense_Mutation_p.Q22*	p.Q309*	NM_002829	NP_002820	P26045	PTN3_HUMAN			12	1037	-			309			FERM.		A0AUW9|E7EN99|E9PGU7	Nonsense_Mutation	SNP	ENST00000374541.2	37	c.925C>T	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	G	55	24.168806	0.99959	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000262539	.	.	.	5.76	5.76	0.90799	.	0.335723	0.33980	N	0.004370	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.9759	0.97304	0.0:0.0:1.0:0.0	.	.	.	.	X	309;178;178;309;200	.	ENSP00000262539:Q200X	Q	-	1	0	PTPN3	111229127	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	4.968000	0.63728	2.713000	0.92767	0.655000	0.94253	CAG		0.448	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4				6	104	0	0	0	0.001984	0	6	104		
OR1L1	26737	broad.mit.edu	37	9	125424441	125424441	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:125424441C>A	ENST00000373686.1	+	1	597	c.597C>A	c.(595-597)ttC>ttA	p.F199L	OR1L1_ENST00000309623.1_Missense_Mutation_p.F149L			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						TTCTCTCCTTCTGCATTCCAC	0.463																																						uc011lza.1		NaN																	0				skin(3)|ovary(1)	4						c.(595-597)TTC>TTA		olfactory receptor, family 1, subfamily L,							363.0	322.0	336.0					9																	125424441		2203	4300	6503	SO:0001583	missense	26737				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125424441C>A		CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679		"""GPCR / Class A : Olfactory receptors"""	8213	protein-coding gene	gene with protein product				OR1L2			Standard	NM_001005236		Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000373686.1:c.597C>A	9.37:g.125424441C>A	ENSP00000362790:p.Phe199Leu						p.F199L	NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN			1	597	+			199			Helical; Name=4; (Potential).		Q5T7Z3|Q6IFN2	Missense_Mutation	SNP	ENST00000373686.1	37	c.597C>A		.	.	.	.	.	.	.	.	.	.	C	12.17	1.858526	0.32791	.	.	ENSG00000173679	ENST00000373686;ENST00000309623	T;T	0.35973	1.28;1.28	3.26	-0.0165	0.13972	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.16557	0.0398	N	0.05306	-0.075	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.22034	-1.0228	9	0.72032	D	0.01	.	4.9818	0.14170	0.0:0.5911:0.1773:0.2316	.	199	Q8NH94	OR1L1_HUMAN	L	199;149	ENSP00000362790:F199L;ENSP00000310773:F149L	ENSP00000310773:F149L	F	+	3	2	OR1L1	124464262	0.000000	0.05858	0.001000	0.08648	0.432000	0.31715	-5.074000	0.00154	0.207000	0.20607	0.313000	0.20887	TTC		0.463	OR1L1-201	KNOWN	basic	protein_coding	protein_coding					51	373	1	0	6.4685e-43	0.01441	7.45105e-43	51	373		
FUBP3	8939	broad.mit.edu	37	9	133506081	133506081	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:133506081C>T	ENST00000319725.9	+	13	1259	c.1184C>T	c.(1183-1185)cCt>cTt	p.P395L		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	395	KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		AGGAACCCCCCTCCCAACAGC	0.587																																						uc004bzr.1		NaN																	0				ovary(1)	1						c.(1183-1185)CCT>CTT		far upstream element (FUSE) binding protein 3							46.0	51.0	50.0					9																	133506081		1977	4153	6130	SO:0001583	missense	8939				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding	g.chr9:133506081C>T	U69127	CCDS43893.1	9q34.11	2008-02-05			ENSG00000107164	ENSG00000107164			4005	protein-coding gene	gene with protein product		603536		FBP3		8940189	Standard	NM_003934		Approved		uc004bzr.1	Q96I24	OTTHUMG00000020809	ENST00000319725.9:c.1184C>T	9.37:g.133506081C>T	ENSP00000318177:p.Pro395Leu					FUBP3_uc004bzs.1_Missense_Mutation_p.P308L	p.P395L	NM_003934	NP_003925	Q96I24	FUBP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000279)	13	1292	+			395			KH 4.		A3KFK8|A3KFL0|Q92946|Q9BVB6	Missense_Mutation	SNP	ENST00000319725.9	37	c.1184C>T	CCDS43893.1	.	.	.	.	.	.	.	.	.	.	C	33	5.220502	0.95139	.	.	ENSG00000107164	ENST00000319725	T	0.32515	1.45	5.53	5.53	0.82687	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.47488	0.1448	L	0.35414	1.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.45600	-0.9250	10	0.72032	D	0.01	-2.5065	18.4501	0.90700	0.0:1.0:0.0:0.0	.	395;395	A3KFK8;Q96I24	.;FUBP3_HUMAN	L	395	ENSP00000318177:P395L	ENSP00000318177:P395L	P	+	2	0	FUBP3	132495902	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.818000	0.86416	2.592000	0.87571	0.655000	0.94253	CCT		0.587	FUBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054666.1				5	84	0	0	0	0.000602	0	5	84		
SLC2A6	11182	broad.mit.edu	37	9	136337170	136337170	+	Silent	SNP	G	G	A	rs367812993		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:136337170G>A	ENST00000371899.4	-	10	1574	c.1497C>T	c.(1495-1497)cgC>cgT	p.R499R	SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Silent_p.R437R	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	499					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		TTCTCCCCGTGCGGAAGAAGG	0.627																																						uc004cee.2		NaN																	0					0						c.(1495-1497)CGC>CGT		solute carrier family 2 (facilitated glucose		G	,	0,4406		0,0,2203	102.0	88.0	93.0		1311,1497	0.5	0.1	9		93	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC2A6	NM_001145099.1,NM_017585.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	437/446,499/508	136337170	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	11182					integral to membrane|plasma membrane	D-glucose transmembrane transporter activity	g.chr9:136337170G>A	AJ011372	CCDS6975.1, CCDS48052.1	9q34	2013-05-22			ENSG00000160326	ENSG00000160326		"""Solute carriers"""	11011	protein-coding gene	gene with protein product		606813				10970791	Standard	NM_001145099		Approved	GLUT9, GLUT6, HSA011372	uc004cee.3	Q9UGQ3	OTTHUMG00000020874	ENST00000371899.4:c.1497C>T	9.37:g.136337170G>A						SLC2A6_uc004cef.2_Silent_p.R437R|SLC2A6_uc004ceg.2_Silent_p.R476R	p.R499R	NM_017585	NP_060055	Q9UGQ3	GTR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)	10	1592	-			499			Cytoplasmic (Potential).		A6NNU6|Q5SXD7|Q8NCC2	Silent	SNP	ENST00000371899.4	37	c.1497C>T	CCDS6975.1																																																																																				0.627	SLC2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054909.1		NM_017585		13	63	0	0	0	0.001855	0	13	63		
PMPCA	23203	broad.mit.edu	37	9	139306631	139306631	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:139306631G>C	ENST00000371717.3	+	2	263	c.254G>C	c.(253-255)gGa>gCa	p.G85A	PMPCA_ENST00000371720.1_Missense_Mutation_p.G85A|SDCCAG3_ENST00000298537.7_5'Flank|SDCCAG3_ENST00000371725.3_5'Flank|SDCCAG3_ENST00000357365.3_5'Flank|PMPCA_ENST00000399219.3_5'UTR	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	85					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		AATAAGTTTGGACAGTTTTGT	0.423																																						uc004chl.2		NaN																	0					0						c.(253-255)GGA>GCA		peptidase (mitochondrial processing) alpha							232.0	231.0	231.0					9																	139306631		2203	4300	6503	SO:0001583	missense	23203				proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr9:139306631G>C	D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"""inositol polyphosphate-5-phosphatase, 72 kD"""	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.254G>C	9.37:g.139306631G>C	ENSP00000360782:p.Gly85Ala					SDCCAG3_uc004chi.2_5'Flank|SDCCAG3_uc004chj.2_5'Flank|SDCCAG3_uc004chk.2_5'Flank|PMPCA_uc011mdy.1_Missense_Mutation_p.G85A|PMPCA_uc010nbk.2_RNA|PMPCA_uc010nbl.2_5'UTR|PMPCA_uc011mdz.1_5'UTR	p.G85A	NM_015160	NP_055975	Q10713	MPPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)	2	259	+		Myeloproliferative disorder(178;0.0821)	85					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371717.3	37	c.254G>C	CCDS35180.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.019783	0.93462	.	.	ENSG00000165688	ENST00000371720;ENST00000371717	T;T	0.15718	2.4;2.4	4.62	4.62	0.57501	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.41396	0.1157	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.19811	-1.0294	10	0.35671	T	0.21	.	15.314	0.74059	0.0:0.0:1.0:0.0	.	85;85	B4DRK5;Q10713	.;MPPA_HUMAN	A	85	ENSP00000360785:G85A;ENSP00000360782:G85A	ENSP00000360782:G85A	G	+	2	0	PMPCA	138426452	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.113000	0.94321	2.257000	0.74773	0.561000	0.74099	GGA		0.423	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055054.1		NM_015160		10	277	0	0	0	0.004007	0	10	277		
DYNLT3	6990	broad.mit.edu	37	X	37705596	37705596	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chrX:37705596C>T	ENST00000378578.4	-	2	172	c.46G>A	c.(46-48)Gag>Aag	p.E16K	DYNLT3_ENST00000432389.2_Missense_Mutation_p.E22K|TM4SF2_ENST00000465127.1_Intron|DYNLT3_ENST00000378581.3_Missense_Mutation_p.E16K	NM_006520.2	NP_006511.1	P51808	DYLT3_HUMAN	dynein, light chain, Tctex-type 3	16					mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle (GO:0007346)|transport (GO:0006810)	cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	motor activity (GO:0003774)			endometrium(1)|lung(1)|skin(1)	3						TGGGCTTCCTCAGCATTGAAG	0.408																																						uc004dds.2		NaN																	0					0						c.(46-48)GAG>AAG		dynein, light chain, Tctex-type 3							80.0	61.0	67.0					X																	37705596		2202	4300	6502	SO:0001583	missense	6990				cell division|mitosis|regulation of mitotic cell cycle|transport	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|nucleus|plasma membrane	motor activity	g.chrX:37705596C>T	U02556	CCDS14243.1	Xp21	2013-01-18	2005-11-25	2005-11-25	ENSG00000165169	ENSG00000165169		"""Cytoplasmic dyneins"""	11694	protein-coding gene	gene with protein product		300302	"""t-complex-associated-testis-expressed 1-like"""	TCTE1L		8004092	Standard	NM_006520		Approved	TCTEX1L	uc004dds.3	P51808	OTTHUMG00000033172	ENST00000378578.4:c.46G>A	X.37:g.37705596C>T	ENSP00000367841:p.Glu16Lys						p.E16K	NM_006520	NP_006511	P51808	DYLT3_HUMAN			2	172	-			16					Q6ICS3	Missense_Mutation	SNP	ENST00000378578.4	37	c.46G>A	CCDS14243.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896297	0.72639	.	.	ENSG00000165169	ENST00000378581;ENST00000378578;ENST00000432389	T;T;T	0.28255	1.62;1.62;1.62	5.52	5.52	0.82312	.	0.172288	0.49916	D	0.000129	T	0.42720	0.1215	M	0.84511	2.7	0.46011	D	0.998814	B	0.21905	0.062	B	0.25987	0.065	T	0.39941	-0.9589	10	0.48119	T	0.1	-8.7063	15.2355	0.73427	0.0:1.0:0.0:0.0	.	16	P51808	DYLT3_HUMAN	K	16;16;22	ENSP00000367844:E16K;ENSP00000367841:E16K;ENSP00000402695:E22K	ENSP00000367841:E16K	E	-	1	0	DYNLT3	37590540	1.000000	0.71417	0.985000	0.45067	0.979000	0.70002	6.161000	0.71868	2.303000	0.77524	0.513000	0.50165	GAG		0.408	DYNLT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080876.1		NM_006520		6	21	0	0	0	0.004482	0	6	21		
USP9X	8239	broad.mit.edu	37	X	41075732	41075732	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chrX:41075732A>G	ENST00000324545.8	+	35	6545	c.5912A>G	c.(5911-5913)gAg>gGg	p.E1971G	USP9X_ENST00000378308.2_Missense_Mutation_p.E1971G	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1971					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TATATATCAGAGCTTGCTATC	0.398																																					Ovarian(172;1807 2695 35459 49286)	uc004dfb.2		NaN																	0				lung(3)|breast(2)|ovary(1)	6						c.(5911-5913)GAG>GGG		ubiquitin specific protease 9, X-linked isoform							135.0	122.0	126.0					X																	41075732		2119	4235	6354	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41075732A>G	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.5912A>G	X.37:g.41075732A>G	ENSP00000316357:p.Glu1971Gly					USP9X_uc004dfc.2_Missense_Mutation_p.E1971G	p.E1971G	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN			35	6545	+			1971					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.5912A>G	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	A	15.45	2.837297	0.50951	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03413	3.94;3.94	5.56	5.56	0.83823	.	0.138508	0.64402	D	0.000004	T	0.06462	0.0166	L	0.51422	1.61	0.80722	D	1	B;B	0.18166	0.026;0.009	B;B	0.26310	0.068;0.031	T	0.17930	-1.0353	10	0.51188	T	0.08	.	14.7153	0.69262	1.0:0.0:0.0:0.0	.	1971;1971	Q93008-1;Q93008	.;USP9X_HUMAN	G	1971	ENSP00000367558:E1971G;ENSP00000316357:E1971G	ENSP00000316357:E1971G	E	+	2	0	USP9X	40960676	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.156000	0.77453	1.856000	0.53863	0.412000	0.27726	GAG		0.398	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4		NM_004652		24	54	0	0	0	0.00632	0	24	54		
RLIM	51132	broad.mit.edu	37	X	73812092	73812092	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chrX:73812092G>A	ENST00000332687.6	-	4	1276	c.1058C>T	c.(1057-1059)aCt>aTt	p.T353I	RLIM_ENST00000349225.2_Missense_Mutation_p.T353I	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	353					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATAGGTGACAGTGTTGTTTGG	0.468																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	uc004ebu.2		NaN																	0				ovary(2)	2						c.(1057-1059)ACT>ATT		ring finger protein, LIM domain interacting							111.0	99.0	103.0					X																	73812092		2203	4300	6503	SO:0001583	missense	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73812092G>A	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1058C>T	X.37:g.73812092G>A	ENSP00000328059:p.Thr353Ile					RLIM_uc004ebw.2_Missense_Mutation_p.T353I	p.T353I	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN			5	1348	-			353					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	c.1058C>T	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615885	0.46631	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.11821	2.74;2.74	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.42223	0.1193	M	0.78456	2.415	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.34875	-0.9811	10	0.87932	D	0	-1.5396	18.882	0.92358	0.0:0.0:1.0:0.0	.	353	Q9NVW2	RNF12_HUMAN	I	353	ENSP00000328059:T353I;ENSP00000253571:T353I	ENSP00000328059:T353I	T	-	2	0	RLIM	73728817	1.000000	0.71417	0.952000	0.39060	0.809000	0.45718	9.473000	0.97714	2.406000	0.81754	0.600000	0.82982	ACT		0.468	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1		NM_016120		14	44	0	0	0	0.003163	0	14	44		
BTK	695	broad.mit.edu	37	X	100617587	100617587	+	Missense_Mutation	SNP	T	T	G	rs371085740		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chrX:100617587T>G	ENST00000308731.7	-	6	645	c.482A>C	c.(481-483)aAt>aCt	p.N161T	BTK_ENST00000372880.1_Missense_Mutation_p.N161T	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	161					adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GCCCATAGCATTTTTGGCTGT	0.448									Agammaglobulinemia, X-linked																													uc004ehg.2		NaN																	0				lung(3)|central_nervous_system(2)|ovary(1)	6						c.(481-483)AAT>ACT		Bruton agammaglobulinemia tyrosine kinase		T	THR/ASN	0,3835		0,0,1632,571	137.0	126.0	130.0		482	5.5	1.0	X		130	1,6727		0,1,2427,1872	no	missense	BTK	NM_000061.2	65	0,1,4059,2443	GG,GT,TT,T		0.0149,0.0,0.0095	benign	161/660	100617587	1,10562	2203	4300	6503	SO:0001583	missense	695	Agammaglobulinemia_X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100617587T>G	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.482A>C	X.37:g.100617587T>G	ENSP00000308176:p.Asn161Thr					BTK_uc010nnn.2_Missense_Mutation_p.N161T|BTK_uc010nno.2_Missense_Mutation_p.N195T|BTK_uc004ehi.2_Missense_Mutation_p.N161T	p.N161T	NM_000061	NP_000052	Q06187	BTK_HUMAN			6	675	-			161			Btk-type.		B2RAW1|Q32ML5	Missense_Mutation	SNP	ENST00000308731.7	37	c.482A>C	CCDS14482.1	.	.	.	.	.	.	.	.	.	.	T	9.687	1.150867	0.21371	0.0	1.49E-4	ENSG00000010671	ENST00000372880;ENST00000308731	D;D	0.93488	-3.23;-3.23	5.49	5.49	0.81192	Pleckstrin homology-type (1);Zinc finger, Btk motif (4);	0.096580	0.64402	D	0.000001	D	0.85965	0.5820	N	0.19112	0.55	0.46044	D	0.998833	B;B;B	0.14012	0.009;0.001;0.004	B;B;B	0.16289	0.015;0.002;0.005	T	0.80455	-0.1375	10	0.13108	T	0.6	.	11.2521	0.49032	0.0:0.0:0.1506:0.8494	.	161;161;161	Q5JY90;B2RAW1;Q06187	.;.;BTK_HUMAN	T	161	ENSP00000361971:N161T;ENSP00000308176:N161T	ENSP00000308176:N161T	N	-	2	0	BTK	100504243	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.724000	0.61972	1.844000	0.53588	0.430000	0.28490	AAT		0.448	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2		NM_000061		46	84	0	0	0	0.01441	0	46	84		
NGFRAP1	27018	broad.mit.edu	37	X	102632754	102632754	+	Nonstop_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chrX:102632754G>T	ENST00000372645.3	+	3	662	c.335G>T	c.(334-336)tGa>tTa	p.*112L	NGFRAP1_ENST00000361298.4_Nonstop_Mutation_p.*102L|NGFRAP1_ENST00000372634.1_Nonstop_Mutation_p.*102L|NGFRAP1_ENST00000372635.1_Nonstop_Mutation_p.*112L|NGFRAP1_ENST00000299872.7_Nonstop_Mutation_p.*112L			Q00994	BEX3_HUMAN	nerve growth factor receptor (TNFRSF16) associated protein 1	0					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|metal ion binding (GO:0046872)			NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						CTTATGCCTTGACTCCTGCCA	0.418																																						uc004eki.2		NaN																	0					0						c.(334-336)TGA>TTA		nerve growth factor receptor (TNFRSF16)							69.0	66.0	67.0					X																	102632754		2203	4300	6503	SO:0001578	stop_lost	27018				apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway	cytosol|nucleus	caspase regulator activity|metal ion binding	g.chrX:102632754G>T	AF187064	CCDS14508.1, CCDS14509.1	Xq22.2	2014-03-21			ENSG00000166681	ENSG00000166681			13388	protein-coding gene	gene with protein product	"""brain expressed, X-linked 3"""	300361				10764727, 16221301, 2171551	Standard	NM_206915		Approved	BEX3, HGR74, Bex, NADE, DXS6984E	uc004ekj.1	Q00994	OTTHUMG00000022099	ENST00000372645.3:c.335G>T	X.37:g.102632754G>T	ENSP00000361728:p.*112Leuext*11					NGFRAP1_uc004ekh.2_Nonstop_Mutation_p.*102L|NGFRAP1_uc004ekj.1_Nonstop_Mutation_p.*112L	p.*112L	NM_206915	NP_996798	Q00994	BEX3_HUMAN			3	717	+			112					B2RD17|D3DXA3|Q5JQT4|Q5JQT5	Nonstop_Mutation	SNP	ENST00000372645.3	37	c.335G>T	CCDS14508.1	.	.	.	.	.	.	.	.	.	.	G	9.724	1.160532	0.21454	.	.	ENSG00000166681	ENST00000361298;ENST00000372645;ENST00000372635;ENST00000372634;ENST00000299872	.	.	.	4.1	1.37	0.22104	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.4385	0.16494	0.3812:0.0:0.6188:0.0	.	.	.	.	L	102;112;112;102;112	.	.	X	+	2	2	NGFRAP1	102519410	0.999000	0.42202	0.956000	0.39512	0.797000	0.45037	0.801000	0.27055	0.154000	0.19237	0.600000	0.82982	TGA		0.418	NGFRAP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057709.1		NM_014380		9	42	1	0	3.09899e-07	0.004482	3.27916e-07	9	42		
RGAG1	57529	broad.mit.edu	37	X	109697168	109697168	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chrX:109697168C>G	ENST00000465301.2	+	3	3569	c.3323C>G	c.(3322-3324)tCt>tGt	p.S1108C	RGAG1_ENST00000540313.1_Missense_Mutation_p.S1108C	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1108										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GCATCCACCTCTCACATTAAC	0.532																																						uc004eor.1		NaN																	0				lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(3322-3324)TCT>TGT		retrotransposon gag domain containing 1							140.0	124.0	130.0					X																	109697168		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109697168C>G	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.3323C>G	X.37:g.109697168C>G	ENSP00000419786:p.Ser1108Cys					RGAG1_uc011msr.1_Missense_Mutation_p.S1108C	p.S1108C	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN			3	3569	+			1108					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.3323C>G	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	C	1.536	-0.543089	0.04053	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.60171	0.21;0.21	4.02	3.14	0.36123	.	0.637923	0.13081	N	0.415302	T	0.46405	0.1391	L	0.50333	1.59	0.09310	N	1	B	0.20671	0.047	B	0.20955	0.032	T	0.32666	-0.9898	9	.	.	.	1.6935	4.6838	0.12748	0.0:0.6353:0.2396:0.1251	.	1108	Q8NET4	RGAG1_HUMAN	C	1108;1108;669	ENSP00000419786:S1108C;ENSP00000441452:S1108C	.	S	+	2	0	RGAG1	109583824	0.001000	0.12720	0.004000	0.12327	0.011000	0.07611	0.845000	0.27668	1.024000	0.39682	0.600000	0.82982	TCT		0.532	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2		NM_020769		14	112	0	0	0	0.003163	0	14	112		
BCORL1	63035	broad.mit.edu	37	X	129150054	129150054	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chrX:129150054G>T	ENST00000218147.7	+	4	3503	c.3306G>T	c.(3304-3306)aaG>aaT	p.K1102N	BCORL1_ENST00000540052.1_Missense_Mutation_p.K1102N|BCORL1_ENST00000359304.2_Missense_Mutation_p.K1102N|BCORL1_ENST00000303743.5_Missense_Mutation_p.K1102N			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1102					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TTGCTTGCAAGAACAAGTGGC	0.577																																						uc004evb.1		NaN																	0				ovary(4)|breast(2)|lung(1)	7						c.(3304-3306)AAG>AAT		BCL6 co-repressor-like 1							67.0	61.0	63.0					X																	129150054		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129150054G>T	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.3306G>T	X.37:g.129150054G>T	ENSP00000218147:p.Lys1102Asn					BCORL1_uc010nrd.1_Missense_Mutation_p.K1004N	p.K1102N	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			4	3420	+			1102					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.3306G>T	CCDS14616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.1|23.1	4.380593|4.380593	0.82792|0.82792	.|.	.|.	ENSG00000085185|ENSG00000085185	ENST00000441294|ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	.|T;T;T;T;T	.|0.55234	.|0.56;0.95;0.53;0.56;1.03	5.3|5.3	4.43|4.43	0.53597|0.53597	.|.	.|0.000000	.|0.38492	.|N	.|0.001662	.|T	.|0.55609	.|0.1931	L|L	0.29908|0.29908	0.895|0.895	0.34653|0.34653	D|D	0.721839|0.721839	.|D;P	.|0.67145	.|0.996;0.956	.|P;P	.|0.61477	.|0.889;0.628	.|T	.|0.63305	.|-0.6667	.|10	.|0.31617	.|T	.|0.26	-17.9789|-17.9789	13.4905|13.4905	0.61393|0.61393	0.079:0.0:0.921:0.0|0.079:0.0:0.921:0.0	.|.	.|1102;1102	.|Q5H9F3-2;Q5H9F3	.|.;BCORL_HUMAN	X|N	538|1102;1102;1102;1102;702	.|ENSP00000218147:K1102N;ENSP00000307541:K1102N;ENSP00000352253:K1102N;ENSP00000437775:K1102N;ENSP00000399483:K702N	.|ENSP00000218147:K1102N	E|K	+|+	1|3	0|2	BCORL1|BCORL1	128977735|128977735	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	2.203000|2.203000	0.42752|0.42752	2.200000|2.200000	0.70718|0.70718	0.600000|0.600000	0.82982|0.82982	GAA|AAG		0.577	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1		NM_021946		21	58	1	0	7.76418e-22	0.005443	8.85389e-22	21	58		
AFF2	2334	broad.mit.edu	37	X	147743712	147743712	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chrX:147743712C>G	ENST00000370460.2	+	3	943	c.464C>G	c.(463-465)tCa>tGa	p.S155*	AFF2_ENST00000370458.1_Nonsense_Mutation_p.S151*|AFF2_ENST00000342251.3_Nonsense_Mutation_p.S151*|AFF2_ENST00000370457.5_Nonsense_Mutation_p.S151*	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	155					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AACAGAAAATCAAAACCTGAG	0.463																																						uc004fcp.2		NaN																	0				ovary(3)|pancreas(2)	5						c.(463-465)TCA>TGA		fragile X mental retardation 2							160.0	155.0	156.0					X																	147743712		2203	4300	6503	SO:0001587	stop_gained	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147743712C>G	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.464C>G	X.37:g.147743712C>G	ENSP00000359489:p.Ser155*					AFF2_uc004fco.2_Nonsense_Mutation_p.S151*|AFF2_uc004fcq.2_Nonsense_Mutation_p.S151*|AFF2_uc004fcr.2_Nonsense_Mutation_p.S151*|AFF2_uc011mxb.1_Nonsense_Mutation_p.S155*|AFF2_uc004fcs.2_Nonsense_Mutation_p.S151*	p.S155*	NM_002025	NP_002016	P51816	AFF2_HUMAN			3	943	+	Acute lymphoblastic leukemia(192;6.56e-05)		155					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Nonsense_Mutation	SNP	ENST00000370460.2	37	c.464C>G	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	40	8.129941	0.98667	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458	.	.	.	5.63	5.63	0.86233	.	0.841231	0.09992	N	0.729536	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.7174	0.91680	0.0:1.0:0.0:0.0	.	.	.	.	X	155;151;151;151	.	ENSP00000345459:S151X	S	+	2	0	AFF2	147551404	1.000000	0.71417	0.093000	0.20910	0.850000	0.48378	6.223000	0.72257	2.365000	0.80145	0.600000	0.82982	TCA		0.463	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2		NM_002025		23	173	0	0	0	0.00333	0	23	173		
L1CAM	3897	broad.mit.edu	37	X	153128264	153128264	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chrX:153128264C>T	ENST00000370060.1	-	29	3817	c.3628G>A	c.(3628-3630)Gat>Aat	p.D1210N	L1CAM_ENST00000361981.3_Missense_Mutation_p.D1201N|L1CAM_ENST00000543994.1_Missense_Mutation_p.D1212N|L1CAM_ENST00000370055.1_Missense_Mutation_p.D1201N|L1CAM_ENST00000538883.1_Missense_Mutation_p.D1208N|L1CAM_ENST00000370057.3_Missense_Mutation_p.D1210N|L1CAM_ENST00000361699.4_Missense_Mutation_p.D1206N	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1210					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	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)					CCCCCATAATCGGCCAGGCTG	0.597																																						uc004fjb.2		NaN																	0				ovary(8)|central_nervous_system(1)	9						c.(3628-3630)GAT>AAT		L1 cell adhesion molecule isoform 1 precursor							88.0	67.0	74.0					X																	153128264		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153128264C>T	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.3628G>A	X.37:g.153128264C>T	ENSP00000359077:p.Asp1210Asn					L1CAM_uc004fjc.2_Missense_Mutation_p.D1206N|L1CAM_uc010nuo.2_Missense_Mutation_p.D1201N	p.D1210N	NM_000425	NP_000416	P32004	L1CAM_HUMAN			28	3736	-	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)		1210			Cytoplasmic (Potential).		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.3628G>A	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740726	0.69304	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000370058;ENST00000361699	D;D;D;D;D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21	4.6	4.6	0.57074	.	0.000000	0.53938	D	0.000044	D	0.93070	0.7794	M	0.78049	2.395	0.48762	D	0.999704	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.964;0.998	D	0.94070	0.7334	10	0.87932	D	0	.	15.2977	0.73922	0.0:1.0:0.0:0.0	.	1201;1206;1210	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	N	1210;1212;1210;1208;1201;1201;106;1206	ENSP00000359077:D1210N;ENSP00000438430:D1212N;ENSP00000359074:D1210N;ENSP00000439645:D1208N;ENSP00000354712:D1201N;ENSP00000359072:D1201N;ENSP00000359075:D106N;ENSP00000355380:D1206N	ENSP00000355380:D1206N	D	-	1	0	L1CAM	152781458	0.998000	0.40836	0.876000	0.34364	0.701000	0.40568	3.847000	0.55895	2.116000	0.64780	0.529000	0.55759	GAT		0.597	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2		NM_024003		18	42	0	0	0	0.014323	0	18	42		
ZMPSTE24	10269	broad.mit.edu	37	1	40737578	40737587	+	Frame_Shift_Del	DEL	ATCTATGCTG	ATCTATGCTG	-	rs375434823		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:40737578_40737587delATCTATGCTG	ENST00000372759.3	+	6	805_814	c.640_649delATCTATGCTG	c.(640-651)atctatgctgatfs	p.IYAD214fs		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	214					CAAX-box protein processing (GO:0071586)|nuclear envelope organization (GO:0006998)|prenylated protein catabolic process (GO:0030327)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metalloexopeptidase activity (GO:0008235)			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TCTTGTCACAATCTATGCTGATTATATTGC	0.3																																						uc001cfg.2		NaN																	0					0						c.(640-651)ATCTATGCTGATfs		zinc metallopeptidase STE24																																				SO:0001589	frameshift_variant	10269					endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity	g.chr1:40737578_40737587delATCTATGCTG	Y13834	CCDS449.1	1p34	2014-09-17	2012-12-10		ENSG00000084073	ENSG00000084073	3.4.24.84		12877	protein-coding gene	gene with protein product	"""Hutchinson-Gilford progeria syndrome"", ""CAAX prenyl protease 1 homolog"""	606480	"""zinc metalloproteinase (STE24 homolog, yeast)"", ""zinc metallopeptidase (STE24 homolog, yeast)"", ""zinc metallopeptidase STE24 homolog (S. cerevisiae)"""			10373325, 9700155, 16671095	Standard	NM_005857		Approved	FACE-1, Ste24p, STE24, HGPS, PRO1	uc001cfg.4	O75844	OTTHUMG00000005762	ENST00000372759.3:c.640_649delATCTATGCTG	1.37:g.40737578_40737587delATCTATGCTG	ENSP00000361845:p.Ile214fs						p.I214fs	NM_005857	NP_005848	O75844	FACE1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)		6	851_860	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	214_217					B3KQI7|D3DPU7|Q8NDZ8|Q9UBQ2	Frame_Shift_Del	DEL	ENST00000372759.3	37	c.640_649delATCTATGCTG	CCDS449.1																																																																																				0.300	ZMPSTE24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015766.1				11	173	NaN	NaN	NaN	NaN	NaN	11	173	---	---
RPTN	126638	broad.mit.edu	37	1	152127881	152127884	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:152127881_152127884delTGTC	ENST00000316073.3	-	3	1755_1758	c.1691_1694delGACA	c.(1690-1695)agacaafs	p.RQ564fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	564	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GCTCTGGCCTTGTCTGTCTGTCTG	0.485																																						uc001ezs.1		NaN																	0					0						c.(1690-1695)AGACAAfs		repetin																																				SO:0001589	frameshift_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152127881_152127884delTGTC	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1691_1694delGACA	1.37:g.152127889_152127892delTGTC	ENSP00000317895:p.Arg564fs						p.R564fs	NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN			3	1756_1759	-			564_565			Gln-rich.		B7ZBZ3	Frame_Shift_Del	DEL	ENST00000316073.3	37	c.1691_1694delGACA	CCDS41397.1																																																																																				0.485	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1		XM_371312		7	1314	NaN	NaN	NaN	NaN	NaN	7	1314	---	---
PCP4L1	654790	broad.mit.edu	37	1	161254154	161254156	+	In_Frame_Del	DEL	GGA	GGA	-	rs549268381		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:161254154_161254156delGGA	ENST00000504449.1	+	3	338_340	c.90_92delGGA	c.(88-93)gcggag>gcg	p.E35del		NM_001102566.1	NP_001096036.1	A6NKN8	PC4L1_HUMAN	Purkinje cell protein 4 like 1	35								p.A30A(1)|p.E35delE(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCAAGAAGGCGGAGGAGGAGGAG	0.488																																						uc001gad.2		NaN																	2	Substitution - coding silent(1)|Deletion - In frame(1)		large_intestine(1)|lung(1)		0						c.(88-93)GCGGAG>GCG		Purkinje cell protein 4 like 1																																				SO:0001651	inframe_deletion	654790							g.chr1:161254154_161254156delGGA	BC028905	CCDS53412.1	1q23.3	2006-02-27	2006-02-27		ENSG00000248485	ENSG00000248485			20448	protein-coding gene	gene with protein product			"""purkinje cell protein 4 like 1"""				Standard	NM_001102566		Approved	IQM1	uc001gad.3	A6NKN8	OTTHUMG00000034340	ENST00000504449.1:c.90_92delGGA	1.37:g.161254163_161254165delGGA	ENSP00000426296:p.Glu35del						p.E35del	NM_001102566	NP_001096036	A6NKN8	PC4L1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	338_340	+	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		35					B2RV24|B9EJG4	In_Frame_Del	DEL	ENST00000504449.1	37	c.90_92delGGA	CCDS53412.1																																																																																				0.488	PCP4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082986.2				8	287	NaN	NaN	NaN	NaN	NaN	8	287	---	---
HMX3	340784	broad.mit.edu	37	10	124895626	124895627	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:124895626_124895627insC	ENST00000357878.5	+	1	149_150	c.60_61insC	c.(61-63)cccfs	p.P21fs		NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	21	Pro-rich.				brain development (GO:0007420)|cell differentiation (GO:0030154)|embryo implantation (GO:0007566)|inner ear morphogenesis (GO:0042472)|maternal process involved in female pregnancy (GO:0060135)|neuromuscular process controlling balance (GO:0050885)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		AACCGCCGCCGCCCCCCCCACC	0.748																																						uc010quc.1		NaN																	0					0						c.(58-63)CCGCCCfs		H6 family homeobox 3																																				SO:0001589	frameshift_variant	340784				cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr10:124895626_124895627insC		CCDS41575.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188620	ENSG00000188620		"""Homeoboxes / ANTP class : NKL subclass"""	5019	protein-coding gene	gene with protein product		613380	"""homeo box (H6 family) 3"""				Standard	NM_001105574		Approved	NKX5-1	uc010quc.2	A6NHT5	OTTHUMG00000019199	ENST00000357878.5:c.68dupC	10.37:g.124895634_124895634dupC	ENSP00000350549:p.Pro21fs						p.P20fs	NM_001105574	NP_001099044	A6NHT5	HMX3_HUMAN		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)	1	60_61	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	20_21			Pro-rich.		A8MU06	Frame_Shift_Ins	INS	ENST00000357878.5	37	c.60_61insC	CCDS41575.1																																																																																				0.748	HMX3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050842.4		XM_291716		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
SMARCC2	6601	broad.mit.edu	37	12	56558379	56558381	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08			AGG	-	AGG	AGG		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:56558379_56558381delAGG	ENST00000267064.4	-	27	3360_3362	c.3274_3276delCCT	c.(3274-3276)cctdel	p.P1092del	SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000550164.1_In_Frame_Del_p.P1123del|SMARCC2_ENST00000394023.3_Intron|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1092	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TGGATGGAGCAGGAGGAGGAGGA	0.591																																						uc001skb.2		NaN																	0				lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6						c.(3274-3276)CCTdel		SWI/SNF-related matrix-associated																																				SO:0001651	inframe_deletion	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56558379_56558381delAGG	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3274_3276delCCT	12.37:g.56558388_56558390delAGG	ENSP00000267064:p.Pro1092del					SMARCC2_uc001skd.2_Intron|SMARCC2_uc001ska.2_Intron|SMARCC2_uc001skc.2_Intron|SMARCC2_uc010sqf.1_Intron	p.P1092del	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		27	3380_3382	-			1092			Pro-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	In_Frame_Del	DEL	ENST00000267064.4	37	c.3274_3276delCCT	CCDS8907.1																																																																																				0.591	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1				9	76	NaN	NaN	NaN	NaN	NaN	9	76	---	---
PDZD9	255762	broad.mit.edu	37	16	21995741	21995750	+	Frame_Shift_Del	DEL	TTTCTTGTCG	TTTCTTGTCG	-	rs548701580|rs146108684	byFrequency	TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:21995741_21995750delTTTCTTGTCG	ENST00000424898.2	-	4	695_704	c.633_642delCGACAAGAAA	c.(631-642)gacgacaagaaafs	p.DDKK211fs	PDZD9_ENST00000537222.2_Frame_Shift_Del_p.DDKK151fs|PDZD9_ENST00000286143.6_Frame_Shift_Del_p.DDKK149fs			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	211								p.D150E(1)		breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						CCCTCACTTCTTTCTTGTCGTCTCTGTGAA	0.433																																						uc002dka.1		NaN																	1	Substitution - Missense(1)		breast(1)	pancreas(1)	1						c.(445-456)GACGACAAGAAAfs		hypothetical protein LOC255762																																				SO:0001589	frameshift_variant	255762							g.chr16:21995741_21995750delTTTCTTGTCG	BC039562	CCDS10602.1, CCDS10602.2	16p12.1	2010-04-14	2010-04-14	2010-04-14	ENSG00000155714	ENSG00000155714			28740	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 65"""	C16orf65		12477932	Standard	NM_173806		Approved	MGC50721	uc021ter.1	Q8IXQ8	OTTHUMG00000131586	ENST00000424898.2:c.633_642delCGACAAGAAA	16.37:g.21995741_21995750delTTTCTTGTCG	ENSP00000400514:p.Asp211fs						p.D149fs	NM_173806	NP_776167	Q8IXQ8	PDZD9_HUMAN			5	764_773	-			211_214					F5GWW8	Frame_Shift_Del	DEL	ENST00000424898.2	37	c.447_456delCGACAAGAAA																																																																																					0.433	PDZD9-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000381652.1		NM_173806		13	219	NaN	NaN	NaN	NaN	NaN	13	219	---	---
ARHGAP44	9912	broad.mit.edu	37	17	12888211	12888211	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:12888211delA	ENST00000379672.5	+	20	2603	c.2303delA	c.(2302-2304)gaafs	p.E768fs	ARHGAP44_ENST00000262444.9_Frame_Shift_Del_p.E768fs|ARHGAP44_ENST00000340825.3_Frame_Shift_Del_p.E762fs	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	768	Interaction with BST2.				exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						TCCCCTGGGGAAAGCATGTCT	0.537																																						uc002gnr.3		NaN																	0					0						c.(2302-2304)GAAfs		Rho GTPase-activating protein RICH2							42.0	42.0	42.0					17																	12888211		1916	4126	6042	SO:0001589	frameshift_variant	9912				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr17:12888211delA		CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"""Rho GTPase activating proteins"""	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.2303delA	17.37:g.12888211delA	ENSP00000368994:p.Glu768fs					RICH2_uc010vvk.1_Frame_Shift_Del_p.E768fs|RICH2_uc010vvl.1_Frame_Shift_Del_p.E762fs|RICH2_uc002gns.3_Frame_Shift_Del_p.E562fs|RICH2_uc010vvm.1_Frame_Shift_Del_p.E762fs|RICH2_uc010vvn.1_RNA	p.E768fs	NM_014859	NP_055674	Q17R89	RHG44_HUMAN			20	2630	+			768					A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Frame_Shift_Del	DEL	ENST00000379672.5	37	c.2303delA	CCDS45616.1																																																																																				0.537	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1		NM_014859		11	58	NaN	NaN	NaN	NaN	NaN	11	58	---	---
KPTN	11133	broad.mit.edu	37	19	47984066	47984066	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:47984066delC	ENST00000338134.3	-	6	657	c.550delG	c.(550-552)gaafs	p.E184fs	KPTN_ENST00000536339.1_5'UTR|KPTN_ENST00000595484.1_5'UTR	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	184					actin filament organization (GO:0007015)|cellular component movement (GO:0006928)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		ACGGGCTGTTCCTCAAACTGA	0.602																																						uc002pgy.2		NaN																	0				ovary(1)	1						c.(550-552)GAAfs		kaptin (actin binding protein)							115.0	120.0	119.0					19																	47984066		1959	4151	6110	SO:0001589	frameshift_variant	11133				actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding	g.chr19:47984066delC	AF105369	CCDS42583.1	19q13.32	2014-08-13	2001-11-28		ENSG00000118162	ENSG00000118162			6404	protein-coding gene	gene with protein product		615620	"""kaptin (actin-binding protein)"""			10099934	Standard	XM_005258467		Approved	2E4	uc002pgy.3	Q9Y664	OTTHUMG00000183443	ENST00000338134.3:c.550delG	19.37:g.47984066delC	ENSP00000337850:p.Glu184fs					KPTN_uc010xys.1_RNA	p.E184fs	NM_007059	NP_008990	Q9Y664	KPTN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)	6	654	-		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	184					B3KN86|B4DQ76|Q96GT1	Frame_Shift_Del	DEL	ENST00000338134.3	37	c.550delG	CCDS42583.1																																																																																				0.602	KPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466672.2				27	327	NaN	NaN	NaN	NaN	NaN	27	327	---	---
NCF4	4689	broad.mit.edu	37	22	37261076	37261080	+	Frame_Shift_Del	DEL	AGAGC	AGAGC	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr22:37261076_37261080delAGAGC	ENST00000248899.6	+	3	417_421	c.233_237delAGAGC	c.(232-237)aagagcfs	p.KS78fs	CTA-833B7.2_ENST00000330602.2_RNA|NCF4_ENST00000397147.4_Frame_Shift_Del_p.KS78fs|CTA-833B7.2_ENST00000431290.1_RNA	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	78	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of catalytic activity (GO:0043085)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|membrane (GO:0016020)|NADPH oxidase complex (GO:0043020)|phagolysosome (GO:0032010)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein dimerization activity (GO:0046983)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16					Dextromethorphan(DB00514)	CCAGACAGCAAGAGCAGTGCCCTGG	0.62																																						uc003apy.3		NaN																	0				ovary(1)	1						c.(232-237)AAGAGCfs		neutrophil cytosolic factor 4 isoform 1																																				SO:0001589	frameshift_variant	4689				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity	g.chr22:37261076_37261080delAGAGC	X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"""neutrophil NADPH oxidase factor 4"""	601488	"""neutrophil cytosolic factor 4 (40kD)"""			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.233_237delAGAGC	22.37:g.37261076_37261080delAGAGC	ENSP00000248899:p.Lys78fs					NCF4_uc003apz.3_Frame_Shift_Del_p.K78fs	p.K78fs	NM_000631	NP_000622	Q15080	NCF4_HUMAN			3	417_421	+			78_79			PX.		A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Frame_Shift_Del	DEL	ENST00000248899.6	37	c.233_237delAGAGC	CCDS13934.1																																																																																				0.620	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318863.1		NM_000631		18	136	NaN	NaN	NaN	NaN	NaN	18	136	---	---
PBRM1	55193	broad.mit.edu	37	3	52643634	52643634	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:52643634delT	ENST00000296302.7	-	16	2263	c.2262delA	c.(2260-2262)aaafs	p.K754fs	PBRM1_ENST00000337303.4_Frame_Shift_Del_p.K754fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.K769fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.K769fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.K754fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.K754fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.K722fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.K754fs			Q86U86	PB1_HUMAN	polybromo 1	754					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CAAGCAGGACTTTGTGTAGAA	0.418			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	uc003des.2		NaN		Rec	yes		3	3p21	55193	Mis|N|F|S|D|O	polybromo 1			E			clear cell renal carcinoma|breast		0				kidney(136)|breast(4)	140						c.(2260-2262)AAAfs		polybromo 1 isoform 4							94.0	93.0	93.0					3																	52643634		2203	4300	6503	SO:0001589	frameshift_variant	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52643634delT	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2262delA	3.37:g.52643634delT	ENSP00000296302:p.Lys754fs					PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Frame_Shift_Del_p.K754fs|PBRM1_uc003der.2_Frame_Shift_Del_p.K722fs|PBRM1_uc003det.2_Frame_Shift_Del_p.K769fs|PBRM1_uc003deu.2_Frame_Shift_Del_p.K769fs|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Frame_Shift_Del_p.K754fs|PBRM1_uc010hmk.1_Frame_Shift_Del_p.K754fs|PBRM1_uc003dey.2_Frame_Shift_Del_p.K754fs|PBRM1_uc003dez.1_Frame_Shift_Del_p.K754fs|PBRM1_uc003dfb.1_Frame_Shift_Del_p.K667fs|PBRM1_uc003dfa.1_Frame_Shift_Del_p.K100fs|PBRM1_uc003dfc.2_Frame_Shift_Del_p.K121fs	p.K754fs	NM_181042	NP_060635	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	16	2274	-			754					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37	c.2262delA																																																																																					0.418	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165		8	113	NaN	NaN	NaN	NaN	NaN	8	113	---	---
ITIH1	3697	broad.mit.edu	37	3	52814364	52814364	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:52814364delC	ENST00000273283.2	+	6	677	c.653delC	c.(652-654)gccfs	p.A218fs	ITIH1_ENST00000487686.1_3'UTR|ITIH1_ENST00000537050.1_5'UTR|ITIH1_ENST00000542827.1_Frame_Shift_Del_p.A218fs|ITIH1_ENST00000540715.1_Frame_Shift_Del_p.A76fs	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	218					hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GAACTGGCAGCCCAAACTATC	0.527																																						uc003dfs.2		NaN																	0				ovary(3)	3						c.(652-654)GCCfs		inter-alpha (globulin) inhibitor H1							43.0	42.0	43.0					3																	52814364		2203	4300	6503	SO:0001589	frameshift_variant	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52814364delC		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.653delC	3.37:g.52814364delC	ENSP00000273283:p.Ala218fs					ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_5'Flank	p.A218fs	NM_002215	NP_002206	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	6	677	+			218					A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Frame_Shift_Del	DEL	ENST00000273283.2	37	c.653delC	CCDS2864.1																																																																																				0.527	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1		NM_002215		7	41	NaN	NaN	NaN	NaN	NaN	7	41	---	---
TMCC1	23023	broad.mit.edu	37	3	129370576	129370578	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:129370576_129370578delCTG	ENST00000393238.3	-	6	2048_2050	c.1708_1710delCAG	c.(1708-1710)cagdel	p.Q570del	TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del|TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del|TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	570						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GCTGCACCACCTGCTGCTGCTGC	0.581																																						uc003emz.3		NaN																	0				skin(1)	1						c.(1708-1710)CAGdel		transmembrane and coiled-coil domain family 1																																				SO:0001651	inframe_deletion	23023					integral to membrane		g.chr3:129370576_129370578delCTG	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1708_1710delCAG	3.37:g.129370585_129370587delCTG	ENSP00000376930:p.Gln570del					TMCC1_uc003emy.3_In_Frame_Del_p.Q246del|TMCC1_uc011blc.1_In_Frame_Del_p.Q391del|TMCC1_uc010htg.2_In_Frame_Del_p.Q456del	p.Q570del	NM_001017395	NP_001017395	O94876	TMCC1_HUMAN			7	2209_2211	-			570			Potential.		A8K5Y3|B4DE04|Q68E06|Q8IXM8	In_Frame_Del	DEL	ENST00000393238.3	37	c.1708_1710delCAG	CCDS33855.1																																																																																				0.581	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2		NM_015008		8	164	NaN	NaN	NaN	NaN	NaN	8	164	---	---
MFSD8	256471	broad.mit.edu	37	4	128865042	128865060	+	Frame_Shift_Del	DEL	GTCTATAATTAGACCATAA	GTCTATAATTAGACCATAA	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:128865042_128865060delGTCTATAATTAGACCATAA	ENST00000296468.3	-	5	413_431	c.286_304delTTATGGTCTAATTATAGAC	c.(286-306)ttatggtctaattatagaccafs	p.LWSNYRP96fs	MFSD8_ENST00000513559.1_Frame_Shift_Del_p.LWSNYRP51fs|MFSD8_ENST00000541133.1_Frame_Shift_Del_p.LWSNYRP51fs|MFSD8_ENST00000515130.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	96					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						TCTTTTCTTGGTCTATAATTAGACCATAAACCAAATATA	0.402																																						uc003ifp.2		NaN																	0				ovary(1)|liver(1)	2						c.(286-306)TTATGGTCTAATTATAGACCAfs		major facilitator superfamily domain containing																																				SO:0001589	frameshift_variant	256471				cell death|transmembrane transport	integral to membrane|lysosomal membrane		g.chr4:128865042_128865060delGTCTATAATTAGACCATAA	AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"""ceroid-lipofuscinosis, neuronal 7, late infantile, variant"""	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.286_304delTTATGGTCTAATTATAGAC	4.37:g.128865042_128865060delGTCTATAATTAGACCATAA	ENSP00000296468:p.Leu96fs					MFSD8_uc011cgu.1_Frame_Shift_Del_p.L51fs|MFSD8_uc011cgv.1_Frame_Shift_Del_p.L96fs|MFSD8_uc011cgw.1_RNA|MFSD8_uc011cgx.1_Frame_Shift_Del_p.L51fs	p.L96fs	NM_152778	NP_689991	Q8NHS3	MFSD8_HUMAN			5	449_467	-			96_102			Cytoplasmic (Potential).		B2RDM1|B7Z205|Q8N2P3	Frame_Shift_Del	DEL	ENST00000296468.3	37	c.286_304delTTATGGTCTAATTATAGAC	CCDS3736.1																																																																																				0.402	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257097.1		NM_152778		11	109	NaN	NaN	NaN	NaN	NaN	11	109	---	---
TBC1D9B	23061	broad.mit.edu	37	5	179294465	179294465	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:179294465delA	ENST00000356834.3	-	19	2931	c.2894delT	c.(2893-2895)ttcfs	p.F965fs	TBC1D9B_ENST00000518085.1_5'Flank|TBC1D9B_ENST00000444477.2_Intron|TBC1D9B_ENST00000519746.1_Intron|TBC1D9B_ENST00000355235.3_Intron	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	965						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGGGCAGGAAAAGATCCAG	0.597																																						uc003mlh.2		NaN																	0				breast(1)|skin(1)	2						c.(2893-2895)TTCfs		TBC1 domain family, member 9B (with GRAM domain)							34.0	37.0	36.0					5																	179294465		2004	4167	6171	SO:0001589	frameshift_variant	23061					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	g.chr5:179294465delA	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.2894delT	5.37:g.179294465delA	ENSP00000349291:p.Phe965fs					TBC1D9B_uc003mli.2_Intron|TBC1D9B_uc003mlj.2_Intron|TBC1D9B_uc003mlf.2_5'Flank|TBC1D9B_uc003mlg.2_Intron|TBC1D9B_uc011dgv.1_Intron|TBC1D9B_uc011dgw.1_Frame_Shift_Del_p.F235fs	p.F965fs	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		19	2931	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	965					D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Frame_Shift_Del	DEL	ENST00000356834.3	37	c.2894delT	CCDS43408.1																																																																																				0.597	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3		NM_015043		5	9	NaN	NaN	NaN	NaN	NaN	5	9	---	---
ZNF318	24149	broad.mit.edu	37	6	43305708	43305708	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:43305708delC	ENST00000361428.2	-	10	6105	c.6028delG	c.(6028-6030)gagfs	p.E2010fs	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2010					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GCAGTAAGCTCCTCTACCTTT	0.473																																						uc003oux.2		NaN																	0				ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7						c.(6028-6030)GAGfs		zinc finger protein 318							112.0	106.0	108.0					6																	43305708		2203	4300	6503	SO:0001589	frameshift_variant	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43305708delC	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.6028delG	6.37:g.43305708delC	ENSP00000354964:p.Glu2010fs					ZNF318_uc003ouw.2_Intron	p.E2010fs	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	6106	-			2010					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Frame_Shift_Del	DEL	ENST00000361428.2	37	c.6028delG	CCDS4895.2																																																																																				0.473	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2		NM_014345		8	109	NaN	NaN	NaN	NaN	NaN	8	109	---	---
HTR1E	3354	broad.mit.edu	37	6	87725847	87725847	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:87725847delC	ENST00000305344.5	+	2	1498	c.795delC	c.(793-795)atcfs	p.I265fs		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	265					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.F268fs*4(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	CCATCAGGATCCCCCCCTTCG	0.512																																						uc003pli.2		NaN																	1	Insertion - Frameshift(1)		large_intestine(1)	ovary(2)|skin(1)	3						c.(793-795)ATCfs		5-hydroxytryptamine (serotonin) receptor 1E	Eletriptan(DB00216)			4,4260		2,0,2130	169.0	164.0	166.0			4.4	1.0	6		167	10,8244		4,2,4121	no	frameshift	HTR1E	NM_000865.2		6,2,6251	A1A1,A1R,RR		0.1212,0.0938,0.1118			87725847	14,12504	2203	4300	6503	SO:0001589	frameshift_variant	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725847delC		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.795delC	6.37:g.87725847delC	ENSP00000307766:p.Ile265fs						p.I265fs	NM_000865	NP_000856	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1498	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	265			Cytoplasmic (By similarity).		E1P503|Q9P1Y1	Frame_Shift_Del	DEL	ENST00000305344.5	37	c.795delC	CCDS5006.1																																																																																				0.512	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2		NM_000865		7	322	NaN	NaN	NaN	NaN	NaN	7	322	---	---
BHLHE22	27319	broad.mit.edu	37	8	65493617	65493618	+	In_Frame_Ins	INS	-	-	GGC	rs544639534	byFrequency	TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr8:65493617_65493618insGGC	ENST00000321870.1	+	1	804_805	c.270_271insGGC	c.(271-273)ggc>GGCggc	p.91_91G>GG	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	91	Gly-rich.				anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						gcgcgggaagtggcggcggcgg	0.782														385	0.076877	0.1475	0.0634	5008	,	,		7150	0.005		0.1223	False		,,,				2504	0.0184				Colon(113;104 1586 2865 9855 18065)	uc003xvi.2		NaN																	0					0						c.(268-273)insGGC		basic helix-loop-helix domain containing, class																																				SO:0001652	inframe_insertion	27319				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr8:65493617_65493618insGGC	U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"""Basic helix-loop-helix proteins"""	11963	protein-coding gene	gene with protein product		613483	"""trinucleotide repeat containing 20"", ""basic helix-loop-helix domain containing, class B, 5"""	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.286_288dupGGC	8.37:g.65493624_65493626dupGGC	ENSP00000318799:p.Gly97dup					LOC401463_uc003xvh.2_Intron	p.97_98insG	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN			1	804_805	+			97_98			Gly-rich.			In_Frame_Ins	INS	ENST00000321870.1	37	c.270_271insGGC	CCDS6179.1																																																																																				0.782	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378549.1		NM_152414		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
SURF6	6838	broad.mit.edu	37	9	136201230	136201234	+	Frame_Shift_Del	DEL	GCAGG	GCAGG	-	rs35975060		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:136201230_136201234delGCAGG	ENST00000372022.4	-	2	563_567	c.298_302delCCTGC	c.(298-303)cctgcafs	p.PA100fs	SURF6_ENST00000468290.1_5'Flank	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	100					ribosome biogenesis (GO:0042254)	granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		CCTCTCACCTGCAGGGTTCCCTGCT	0.605																																						uc004cdb.3		NaN																	0				ovary(1)	1						c.(298-303)CCTGCAfs		surfeit 6																																				SO:0001589	frameshift_variant	6838					granular component	DNA binding|RNA binding	g.chr9:136201230_136201234delGCAGG	AF186772	CCDS6962.1	9q33-q34	2010-07-06			ENSG00000148296	ENSG00000148296			11478	protein-coding gene	gene with protein product	"""surfeit locus protein 6"""	185642				9740673, 15629442	Standard	NM_006753		Approved	FLJ30322, RRP14	uc004cdb.4	O75683	OTTHUMG00000020871	ENST00000372022.4:c.298_302delCCTGC	9.37:g.136201230_136201234delGCAGG	ENSP00000361092:p.Pro100fs						p.P100fs	NM_006753	NP_006744	O75683	SURF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)	2	376_380	-			100_101					Q5T8U1|Q9BRK9|Q9BTZ5|Q9UK24	Frame_Shift_Del	DEL	ENST00000372022.4	37	c.298_302delCCTGC	CCDS6962.1																																																																																				0.605	SURF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054905.1		NM_006753		7	50	NaN	NaN	NaN	NaN	NaN	7	50	---	---
SURF1	6834	broad.mit.edu	37	9	136220674	136220682	+	In_Frame_Del	DEL	CCTCCCGGG	CCTCCCGGG	-	rs140443050|rs151258319		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:136220674_136220682delCCTCCCGGG	ENST00000371974.3	-	5	468_476	c.437_445delCCCGGGAGG	c.(436-447)gcccgggagggc>ggc	p.ARE146del	SURF1_ENST00000495952.1_5'UTR|SNORD36C_ENST00000516733.1_RNA|SURF2_ENST00000371964.4_5'Flank	NM_001280787.1|NM_003172.2	NP_001267716.1|NP_003163.1	Q15526	SURF1_HUMAN	surfeit 1	146					aerobic respiration (GO:0009060)|ATP biosynthetic process (GO:0006754)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory chain complex IV assembly (GO:0008535)	integral component of membrane (GO:0016021)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			breast(2)|endometrium(1)|ovary(2)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;5.06e-07)|Epithelial(140;4.25e-06)|all cancers(34;3.93e-05)		ATGAGGCCGCCCTCCCGGGCCTCCCGGAC	0.598																																						uc004cdh.1		NaN																	0				breast(2)	2						c.(436-447)GCCCGGGAGGGC>GGC		surfeit 1																																				SO:0001651	inframe_deletion	6834				aerobic respiration|respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity	g.chr9:136220674_136220682delCCTCCCGGG		CCDS6966.1, CCDS75928.1	9q33-q34	2012-10-12			ENSG00000148290	ENSG00000148290		"""Mitochondrial respiratory chain complex assembly factors"""	11474	protein-coding gene	gene with protein product	"""surfeit locus protein 1"""	185620				8499913, 9843204	Standard	NM_003172		Approved		uc004cdh.1	Q15526	OTTHUMG00000020866	ENST00000371974.3:c.437_445delCCCGGGAGG	9.37:g.136220674_136220682delCCTCCCGGG	ENSP00000361042:p.Ala146_Glu148del					SURF1_uc004cdg.1_In_Frame_Del_p.ARE37del|SURF2_uc004cdi.2_5'Flank	p.ARE146del	NM_003172	NP_003163	Q15526	SURF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-07)|Epithelial(140;4.25e-06)|all cancers(34;3.93e-05)	5	469_477	-			146_148					Q5T8T3|Q5T8T4	In_Frame_Del	DEL	ENST00000371974.3	37	c.437_445delCCCGGGAGG	CCDS6966.1																																																																																				0.598	SURF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054879.1		NM_003172		33	331	NaN	NaN	NaN	NaN	NaN	33	331	---	---
TFE3	7030	broad.mit.edu	37	X	48887952	48887952	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chrX:48887952delC	ENST00000315869.7	-	10	1704	c.1445delG	c.(1444-1446)ggafs	p.G482fs	TFE3_ENST00000487451.1_5'Flank	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	482					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						CTGGGCAGGTCCCCCCCCTAC	0.647			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																	uc004dmb.3		NaN		Dom	yes		X	Xp11.22	7030	T	transcription factor binding to IGHM enhancer 3			E	SFPQ|ASPSCR1|PRCC|NONO|CLTC		papillary renal|alveolar soft part sarcoma|renal	ASPSCR1/TFE3(161)|PRCC/TFE3(25)|SFPQ/TFE3(6)|NONO/TFE3(2)|CLTC/TFE3(2)	0				soft_tissue(120)|kidney(76)|central_nervous_system(1)	197						c.(1444-1446)GGAfs		transcription factor E3							80.0	76.0	78.0					X																	48887952		2203	4299	6502	SO:0001589	frameshift_variant	7030				humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chrX:48887952delC	X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.1445delG	X.37:g.48887952delC	ENSP00000314129:p.Gly482fs					TFE3_uc004dmc.3_Frame_Shift_Del_p.G377fs	p.G482fs	NM_006521	NP_006512	P19532	TFE3_HUMAN			10	1683	-			482					A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Frame_Shift_Del	DEL	ENST00000315869.7	37	c.1445delG	CCDS14315.3																																																																																				0.647	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2		NM_006521		40	122	NaN	NaN	NaN	NaN	NaN	40	122	---	---
