#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
CCDC27	148870	broad.mit.edu	37	1	3684010	3684010	+	Splice_Site	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:3684010G>A	ENST00000294600.2	+	10	1827		c.e10+1			NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27											breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CCAGTCCAGGGTATGCCCAGC	0.647																																						uc001akv.2																			0				skin(1)	1						c.e10+1		coiled-coil domain containing 27							32.0	26.0	28.0					1																	3684010		2203	4298	6501	SO:0001630	splice_region_variant	148870							g.chr1:3684010G>A		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.1743+1G>A	1.37:g.3684010G>A							p.R581_splice	NM_152492	NP_689705	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	10	1824	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)						Q5TBV3|Q96M50	Splice_Site	SNP	ENST00000294600.2	37	c.1743_splice	CCDS50.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.931533	0.34096	.	.	ENSG00000162592	ENST00000294600	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4455	0.67347	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC27	3673870	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	4.689000	0.61723	2.455000	0.83008	0.655000	0.94253	.		0.647	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492	Intron
CASZ1	54897	broad.mit.edu	37	1	10702922	10702922	+	Missense_Mutation	SNP	C	C	T	rs373145502		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:10702922C>T	ENST00000377022.3	-	20	4473	c.4156G>A	c.(4156-4158)Gcg>Acg	p.A1386T	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1386					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)		TCACCTGCCGCGGTGCTCTCG	0.687																																						uc001aro.2																			0				skin(1)	1						c.(4156-4158)GCG>ACG		castor homolog 1, zinc finger isoform a		C	THR/ALA	0,4172		0,0,2086	17.0	20.0	19.0		4156	2.8	0.1	1		19	2,8418		0,2,4208	no	missense	CASZ1	NM_001079843.1	58	0,2,6294	TT,TC,CC		0.0238,0.0,0.0159	possibly-damaging	1386/1760	10702922	2,12590	2086	4210	6296	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10702922C>T	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.4156G>A	1.37:g.10702922C>T	ENSP00000366221:p.Ala1386Thr						p.A1386T	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)	20	4476	-	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)	1386					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.4156G>A	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.763853	0.31228	0.0	2.38E-4	ENSG00000130940	ENST00000377022	.	.	.	4.91	2.83	0.33086	.	0.138581	0.28828	U	0.014016	T	0.25827	0.0629	N	0.19112	0.55	0.46131	D	0.998887	P	0.39326	0.668	B	0.28465	0.09	T	0.05402	-1.0887	9	0.22706	T	0.39	-13.7395	12.2672	0.54684	0.4333:0.5667:0.0:0.0	.	1386	Q86V15	CASZ1_HUMAN	T	1386	.	ENSP00000366221:A1386T	A	-	1	0	CASZ1	10625509	0.998000	0.40836	0.070000	0.20053	0.301000	0.27625	3.411000	0.52672	1.065000	0.40693	-0.277000	0.10078	GCG		0.687	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766	
HSPG2	3339	broad.mit.edu	37	1	22170742	22170742	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:22170742C>G	ENST00000374695.3	-	65	8594	c.8515G>C	c.(8515-8517)Gca>Cca	p.A2839P		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2839	Ig-like C2-type 14.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TGCCCTTCTGCCACTCGGGAG	0.682																																						uc001bfj.2																			0				ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(8515-8517)GCA>CCA		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						61.0	62.0	62.0					1																	22170742		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22170742C>G	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.8515G>C	1.37:g.22170742C>G	ENSP00000363827:p.Ala2839Pro					HSPG2_uc009vqd.2_Missense_Mutation_p.A2840P	p.A2839P	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	65	8555	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2839			Ig-like C2-type 14.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.8515G>C	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.708009	0.68615	.	.	ENSG00000142798	ENST00000374695	T	0.68025	-0.3	4.52	4.52	0.55395	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.37669	N	0.001984	T	0.77212	0.4097	L	0.57130	1.785	0.44918	D	0.997937	D;D	0.89917	1.0;0.99	D;D	0.80764	0.994;0.927	T	0.75181	-0.3408	10	0.30078	T	0.28	.	14.763	0.69619	0.0:1.0:0.0:0.0	.	779;2839	Q59EG0;P98160	.;PGBM_HUMAN	P	2839	ENSP00000363827:A2839P	ENSP00000363827:A2839P	A	-	1	0	HSPG2	22043329	1.000000	0.71417	0.741000	0.31004	0.863000	0.49368	2.549000	0.45803	2.051000	0.60960	0.462000	0.41574	GCA		0.682	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529	
GRIK3	2899	broad.mit.edu	37	1	37282846	37282846	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:37282846G>A	ENST00000373091.3	-	13	1922	c.1906C>T	c.(1906-1908)Cgc>Tgc	p.R636C	GRIK3_ENST00000373093.4_Missense_Mutation_p.R636C	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	636					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CCAATGATGCGTGTGGACAGG	0.562																																						uc001caz.2																			0				ovary(3)|skin(2)|large_intestine(1)|breast(1)	7						c.(1906-1908)CGC>TGC		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						143.0	127.0	132.0					1																	37282846		2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37282846G>A	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1906C>T	1.37:g.37282846G>A	ENSP00000362183:p.Arg636Cys					GRIK3_uc001cba.1_Missense_Mutation_p.R636C	p.R636C	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			13	2041	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	636			Cytoplasmic (Potential).		A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.1906C>T	CCDS416.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856428	0.71834	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.74632	-0.86;-0.86	5.74	4.8	0.61643	Ionotropic glutamate receptor (2);	0.118916	0.56097	D	0.000038	D	0.89663	0.6780	H	0.95224	3.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91985	0.5598	10	0.87932	D	0	.	13.8912	0.63740	0.0:0.0:0.7268:0.2732	.	636;636	A9Z1Z8;Q13003	.;GRIK3_HUMAN	C	636	ENSP00000362183:R636C;ENSP00000362185:R636C	ENSP00000362183:R636C	R	-	1	0	GRIK3	37055433	0.990000	0.36364	0.969000	0.41365	0.973000	0.67179	1.929000	0.40114	2.720000	0.93068	0.650000	0.86243	CGC		0.562	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831	
PIK3R3	8503	broad.mit.edu	37	1	46509434	46509434	+	Missense_Mutation	SNP	G	G	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:46509434G>T	ENST00000262741.5	-	10	1986	c.1297C>A	c.(1297-1299)Cag>Aag	p.Q433K	PIK3R3_ENST00000423209.1_Missense_Mutation_p.Q374K|PIK3R3_ENST00000354242.4_Missense_Mutation_p.Q374K|PIK3R3_ENST00000340332.6_Missense_Mutation_p.Q338K|PIK3R3_ENST00000372006.1_Missense_Mutation_p.Q433K|PIK3R3_ENST00000540385.1_Missense_Mutation_p.Q479K|PIK3R3_ENST00000420542.1_Missense_Mutation_p.Q433K|PIK3R3_ENST00000488808.1_5'UTR	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	433	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	GATGTCTGCTGGTAATGGAGC	0.532																																						uc001cpb.3																			0					0						c.(1297-1299)CAG>AAG		phosphoinositide-3-kinase, regulatory subunit 3							177.0	149.0	158.0					1																	46509434		2203	4300	6503	SO:0001583	missense	8503				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding	g.chr1:46509434G>T	BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"""SH2 domain containing"""	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.1297C>A	1.37:g.46509434G>T	ENSP00000262741:p.Gln433Lys					PIK3R3_uc009vyb.2_Missense_Mutation_p.Q374K|PIK3R3_uc009vyc.2_Missense_Mutation_p.Q450K|PIK3R3_uc001cpc.3_Missense_Mutation_p.Q433K|PIK3R3_uc010olw.1_Missense_Mutation_p.Q479K|PIK3R3_uc010olv.1_Missense_Mutation_p.Q223K	p.Q433K	NM_003629	NP_003620	Q92569	P55G_HUMAN			10	2053	-	Acute lymphoblastic leukemia(166;0.155)		433			SH2 2.		B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Missense_Mutation	SNP	ENST00000262741.5	37	c.1297C>A	CCDS529.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753338	0.49362	.	.	ENSG00000117461	ENST00000372006;ENST00000262741;ENST00000420542;ENST00000354242;ENST00000340332;ENST00000540385;ENST00000423209	T;T;T;T;D;T;T	0.85702	-1.3;-1.3;-1.3;-1.43;-2.02;-1.28;-1.43	5.95	5.95	0.96441	SH2 motif (4);	0.187907	0.52532	D	0.000070	T	0.73892	0.3645	N	0.11927	0.2	0.80722	D	1	B;B;B;B	0.25206	0.057;0.009;0.12;0.005	B;B;B;B	0.20955	0.01;0.005;0.032;0.003	T	0.69617	-0.5097	10	0.09590	T	0.72	-9.2634	20.3931	0.98965	0.0:0.0:1.0:0.0	.	479;466;374;433	F6TDL0;Q7Z3W2;Q92569-2;Q92569	.;.;.;P55G_HUMAN	K	433;433;433;374;338;479;374	ENSP00000361075:Q433K;ENSP00000262741:Q433K;ENSP00000412546:Q433K;ENSP00000346188:Q374K;ENSP00000342484:Q338K;ENSP00000439913:Q479K;ENSP00000391431:Q374K	ENSP00000262741:Q433K	Q	-	1	0	PIK3R3	46282021	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.824000	0.97209	0.655000	0.94253	CAG		0.532	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022171.1	NM_003629	
PARS2	25973	broad.mit.edu	37	1	55224003	55224003	+	Missense_Mutation	SNP	A	A	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:55224003A>T	ENST00000371279.3	-	2	914	c.832T>A	c.(832-834)Ttc>Atc	p.F278I		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	278					gene expression (GO:0010467)|prolyl-tRNA aminoacylation (GO:0006433)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|proline-tRNA ligase activity (GO:0004827)			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	TTGGCTGAGAAGCTGCAGCGG	0.562																																						uc001cxy.2																			0				ovary(2)	2						c.(832-834)TTC>ATC		prolyl-tRNA synthetase (mitochondrial)(putative)	L-Proline(DB00172)						66.0	64.0	65.0					1																	55224003		2203	4300	6503	SO:0001583	missense	25973				prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity	g.chr1:55224003A>T	AK025585	CCDS597.1	1p32.2	2011-07-01	2007-02-23		ENSG00000162396	ENSG00000162396	6.1.1.15	"""Aminoacyl tRNA synthetases / Class II"""	30563	protein-coding gene	gene with protein product	"""proline tRNA ligase 2, mitochondrial (putative)"""	612036				15779907	Standard	NM_152268		Approved	DKFZp727A071	uc001cxy.3	Q7L3T8	OTTHUMG00000009915	ENST00000371279.3:c.832T>A	1.37:g.55224003A>T	ENSP00000360327:p.Phe278Ile						p.F278I	NM_152268	NP_689481	Q7L3T8	SYPM_HUMAN			2	915	-			278					A8K0W4|Q9H6S5|Q9UFT1	Missense_Mutation	SNP	ENST00000371279.3	37	c.832T>A	CCDS597.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.934185	0.52866	.	.	ENSG00000162396	ENST00000371279	T	0.78707	-1.2	5.66	5.66	0.87406	Aminoacyl-tRNA synthetase, class II (1);	0.000000	0.85682	D	0.000000	T	0.79381	0.4436	M	0.79614	2.46	0.80722	D	1	P	0.34615	0.459	B	0.34301	0.179	T	0.81516	-0.0897	10	0.87932	D	0	-25.2182	15.9023	0.79387	1.0:0.0:0.0:0.0	.	278	Q7L3T8	SYPM_HUMAN	I	278	ENSP00000360327:F278I	ENSP00000360327:F278I	F	-	1	0	PARS2	54996591	1.000000	0.71417	0.984000	0.44739	0.439000	0.31926	8.925000	0.92832	2.153000	0.67306	0.533000	0.62120	TTC		0.562	PARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027436.1	NM_152268	
LRRIQ3	127255	broad.mit.edu	37	1	74507037	74507037	+	Silent	SNP	A	A	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:74507037A>G	ENST00000395089.1	-	6	1577	c.1578T>C	c.(1576-1578)acT>acC	p.T526T	LRRIQ3_ENST00000354431.4_Silent_p.T526T			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	526								p.T526T(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TGGTCAAAAGAGTGCGCTCAT	0.358																																						uc001dfy.3																			1	Substitution - coding silent(1)		NS(1)	ovary(2)	2						c.(1576-1578)ACT>ACC		leucine-rich repeats and IQ motif containing 3							99.0	96.0	97.0					1																	74507037		1805	4072	5877	SO:0001819	synonymous_variant	127255							g.chr1:74507037A>G	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1578T>C	1.37:g.74507037A>G						LRRIQ3_uc001dfz.3_Intron	p.T526T	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN			7	1770	-			526					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Silent	SNP	ENST00000395089.1	37	c.1578T>C	CCDS41350.1																																																																																				0.358	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258	
SF3B4	10262	broad.mit.edu	37	1	149898406	149898406	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:149898406C>G	ENST00000271628.8	-	3	1152	c.568G>C	c.(568-570)Gca>Cca	p.A190P	MTMR11_ENST00000492824.1_5'Flank	NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4, 49kDa	190					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CGTTCGGCTGCTGAGCCATGG	0.562																																						uc001etj.1																			0				ovary(1)	1						c.(568-570)GCA>CCA		splicing factor 3b, subunit 4							82.0	79.0	80.0					1																	149898406		2203	4300	6503	SO:0001583	missense	10262					nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr1:149898406C>G	L35013	CCDS72900.1	1q21.2	2013-02-12	2002-08-29		ENSG00000143368	ENSG00000143368		"""RNA binding motif (RRM) containing"""	10771	protein-coding gene	gene with protein product		605593	"""splicing factor 3b, subunit 4, 49kD"""			7958871	Standard	NM_005850		Approved	SAP49, SF3b49, Hsh49	uc001etk.2	Q15427	OTTHUMG00000012208	ENST00000271628.8:c.568G>C	1.37:g.149898406C>G	ENSP00000271628:p.Ala190Pro					SF3B4_uc001eti.1_5'Flank|SF3B4_uc001etk.1_Missense_Mutation_p.A190P|SF3B4_uc009wll.1_Missense_Mutation_p.A190P	p.A190P	NM_005850	NP_005841	Q15427	SF3B4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		3	619	-	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		190					Q5SZ63	Missense_Mutation	SNP	ENST00000271628.8	37	c.568G>C	CCDS941.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.991145	0.54041	.	.	ENSG00000143368	ENST00000271628;ENST00000457312	T;T	0.24723	1.84;2.7	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.11367	0.0277	L	0.31294	0.92	0.80722	D	1	B;B	0.20671	0.047;0.028	B;B	0.20184	0.028;0.017	T	0.03739	-1.1008	10	0.33940	T	0.23	.	16.9828	0.86333	0.0:1.0:0.0:0.0	.	190;190	Q53FG6;Q15427	.;SF3B4_HUMAN	P	190;147	ENSP00000271628:A190P;ENSP00000391114:A147P	ENSP00000271628:A190P	A	-	1	0	SF3B4	148165030	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.317000	0.79018	2.552000	0.86080	0.643000	0.83706	GCA		0.562	SF3B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033753.1	NM_005850	
FMO3	2328	broad.mit.edu	37	1	171079944	171079944	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:171079944G>A	ENST00000367755.4	+	6	744	c.633G>A	c.(631-633)atG>atA	p.M211I	FMO3_ENST00000542847.1_Missense_Mutation_p.M191I|FMO3_ENST00000538429.1_Missense_Mutation_p.M148I|FMO3_ENST00000392085.2_Missense_Mutation_p.M211I	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	211					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	TTAAGGTCATGATCAGTTCCA	0.463																																						uc001ghi.2																			0				skin(1)	1						c.(631-633)ATG>ATA		flavin containing monooxygenase 3							172.0	154.0	160.0					1																	171079944		2203	4300	6503	SO:0001583	missense	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171079944G>A	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.633G>A	1.37:g.171079944G>A	ENSP00000356729:p.Met211Ile					FMO3_uc001ghh.2_Missense_Mutation_p.M211I|FMO3_uc010pmb.1_Missense_Mutation_p.M191I|FMO3_uc010pmc.1_Missense_Mutation_p.M148I	p.M211I	NM_001002294	NP_001002294	P31513	FMO3_HUMAN			6	744	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		211					B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	c.633G>A	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.441951	0.25900	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	4.99	2.04	0.26737	.	0.906415	0.09821	N	0.751419	T	0.04048	0.0113	N	0.00064	-2.31	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.21109	-1.0255	10	0.44086	T	0.13	-0.3556	7.3742	0.26818	0.0:0.5838:0.2668:0.1494	.	148;191;211	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	I	211;211;191;148	ENSP00000356729:M211I;ENSP00000375935:M211I;ENSP00000444073:M191I;ENSP00000439500:M148I	ENSP00000356729:M211I	M	+	3	0	FMO3	169346568	0.000000	0.05858	0.841000	0.33234	0.542000	0.35054	-0.778000	0.04664	0.262000	0.21774	-0.153000	0.13522	ATG		0.463	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894	
ABL2	27	broad.mit.edu	37	1	179086548	179086548	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:179086548C>T	ENST00000502732.1	-	8	1530	c.1327G>A	c.(1327-1329)Gct>Act	p.A443T	ABL2_ENST00000367623.4_Missense_Mutation_p.A422T|ABL2_ENST00000507173.1_Missense_Mutation_p.A422T|ABL2_ENST00000512653.1_Missense_Mutation_p.A428T|ABL2_ENST00000408940.3_Missense_Mutation_p.A407T|ABL2_ENST00000504405.1_Missense_Mutation_p.A407T|ABL2_ENST00000344730.3_Missense_Mutation_p.A428T|ABL2_ENST00000392043.3_Missense_Mutation_p.A422T|ABL2_ENST00000511413.1_Missense_Mutation_p.A443T	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	443	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TTGGCTCCAGCATGAGCAGTA	0.443			T	ETV6	AML																																	uc001gmj.3				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14						c.(1327-1329)GCT>ACT		arg tyrosine kinase isoform b	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						157.0	147.0	150.0					1																	179086548		2203	4300	6503	SO:0001583	missense	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179086548C>T	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.1327G>A	1.37:g.179086548C>T	ENSP00000427562:p.Ala443Thr					ABL2_uc010pnf.1_Missense_Mutation_p.A443T|ABL2_uc010png.1_Missense_Mutation_p.A422T|ABL2_uc010pnh.1_Missense_Mutation_p.A422T|ABL2_uc009wxe.2_Missense_Mutation_p.A422T|ABL2_uc001gmg.3_Missense_Mutation_p.A428T|ABL2_uc001gmi.3_Missense_Mutation_p.A428T|ABL2_uc001gmh.3_Missense_Mutation_p.A407T|ABL2_uc010pne.1_Missense_Mutation_p.A407T|ABL2_uc009wxf.1_Missense_Mutation_p.A428T|ABL2_uc001gmk.2_Missense_Mutation_p.A407T	p.A443T	NM_007314	NP_009298	P42684	ABL2_HUMAN			8	1614	-			443			Protein kinase.|Kinase activation loop (By similarity).		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	37	c.1327G>A	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.211107	0.79240	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413;ENST00000392043	D;D;D;D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	5.16	5.16	0.70880	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000081	T	0.79678	0.4487	N	0.02181	-0.65	0.80722	D	1	D;B;B;B;B;B;B;P;P;P;B	0.76494	0.999;0.133;0.133;0.133;0.133;0.026;0.415;0.47;0.938;0.47;0.133	D;B;B;B;B;B;B;B;B;B;B	0.75020	0.985;0.032;0.032;0.032;0.032;0.01;0.078;0.128;0.395;0.128;0.032	D	0.86613	0.1874	10	0.59425	D	0.04	.	17.9811	0.89141	0.0:1.0:0.0:0.0	.	422;422;443;407;407;422;407;443;428;407;428	P42684-6;P42684-7;P42684-5;P42684-4;P42684-9;P42684-8;P42684-2;P42684;P42684-3;D1MPS6;P42684-10	.;.;.;.;.;.;.;ABL2_HUMAN;.;.;.	T	443;407;428;428;407;422;422;443;422	ENSP00000427562:A443T;ENSP00000386152:A407T;ENSP00000339209:A428T;ENSP00000423578:A428T;ENSP00000426831:A407T;ENSP00000356595:A422T;ENSP00000423413:A422T;ENSP00000424697:A443T;ENSP00000375897:A422T	ENSP00000339209:A428T	A	-	1	0	ABL2	177353171	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.772000	0.85439	2.533000	0.85409	0.655000	0.94253	GCT		0.443	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158	
PTPRC	5788	broad.mit.edu	37	1	198685877	198685877	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:198685877C>T	ENST00000367376.2	+	13	1523	c.1352C>T	c.(1351-1353)aCg>aTg	p.T451M	PTPRC_ENST00000442510.2_Missense_Mutation_p.T453M|PTPRC_ENST00000348564.6_Missense_Mutation_p.T292M|PTPRC_ENST00000594404.1_Missense_Mutation_p.T290M|PTPRC_ENST00000352140.3_Missense_Mutation_p.T403M	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	451	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AAACCTTATACGAAATATGTT	0.313																																						uc001gur.1																			0				breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						c.(1351-1353)ACG>ATG		protein tyrosine phosphatase, receptor type, C							63.0	66.0	65.0					1																	198685877		2203	4299	6502	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198685877C>T	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1352C>T	1.37:g.198685877C>T	ENSP00000356346:p.Thr451Met					PTPRC_uc001gus.1_Missense_Mutation_p.T403M|PTPRC_uc001gut.1_Missense_Mutation_p.T290M|PTPRC_uc009wzf.1_Missense_Mutation_p.T339M|PTPRC_uc010ppg.1_Missense_Mutation_p.T387M	p.T451M	NM_002838	NP_002829	P08575	PTPRC_HUMAN			13	1532	+			451			Extracellular (Potential).|Fibronectin type-III 1.		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.1352C>T		.	.	.	.	.	.	.	.	.	.	C	13.53	2.264648	0.40095	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	T	0.62232	0.04	4.43	0.166	0.14999	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.398022	0.21637	N	0.071382	T	0.70745	0.3259	M	0.64404	1.975	0.09310	N	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.78314	0.984;0.991;0.984;0.984;0.984	T	0.60459	-0.7259	10	0.72032	D	0.01	.	7.7617	0.28957	0.4644:0.3845:0.151:0.0	.	387;387;292;403;451	F5GXZ3;B4DSZ5;B1ALS3;E9PC28;P08575	.;.;.;.;PTPRC_HUMAN	M	453;387;403;403;337;451;385;290	ENSP00000193532:T403M	ENSP00000306782:T290M	T	+	2	0	PTPRC	196952500	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.222000	0.09190	0.043000	0.15746	0.650000	0.86243	ACG		0.313	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			
OPTC	26254	broad.mit.edu	37	1	203466194	203466194	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:203466194G>C	ENST00000367222.2	+	3	437	c.321G>C	c.(319-321)atG>atC	p.M107I		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	107	Ser/Thr-rich.				negative regulation of angiogenesis (GO:0016525)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			ACCCCACGATGACCAGACCTA	0.562																																						uc001gzu.1																			0					0						c.(319-321)ATG>ATC		opticin precursor							133.0	105.0	115.0					1																	203466194		2203	4300	6503	SO:0001583	missense	26254					proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr1:203466194G>C	AF161702	CCDS1439.1	1q31	2008-02-05			ENSG00000188770	ENSG00000188770			8158	protein-coding gene	gene with protein product	"""oculoglycan"""	605127				10636917	Standard	NM_014359		Approved		uc001gzu.1	Q9UBM4	OTTHUMG00000036100	ENST00000367222.2:c.321G>C	1.37:g.203466194G>C	ENSP00000356191:p.Met107Ile						p.M107I	NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		3	437	+			107			Ser/Thr-rich.		Q5T2G4	Missense_Mutation	SNP	ENST00000367222.2	37	c.321G>C	CCDS1439.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.915004	0.33815	.	.	ENSG00000188770	ENST00000367222;ENST00000448911	T;T	0.55234	0.64;0.53	4.4	1.3	0.21679	.	2.677360	0.01536	N	0.019027	T	0.43166	0.1235	L	0.44542	1.39	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.09618	-1.0666	10	0.21540	T	0.41	-0.9555	4.0515	0.09798	0.2152:0.1966:0.5882:0.0	.	107	Q9UBM4	OPT_HUMAN	I	107	ENSP00000356191:M107I;ENSP00000399491:M107I	ENSP00000356191:M107I	M	+	3	0	OPTC	201732817	0.000000	0.05858	0.131000	0.22000	0.408000	0.30992	0.152000	0.16302	0.615000	0.30124	0.561000	0.74099	ATG		0.562	OPTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087964.1	NM_014359	
OBSCN	84033	broad.mit.edu	37	1	228404990	228404990	+	Splice_Site	SNP	G	G	T	rs531253434	byFrequency	TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:228404990G>T	ENST00000422127.1	+	8	2697		c.e8+1		OBSCN_ENST00000570156.2_Splice_Site|OBSCN_ENST00000366707.4_Splice_Site|OBSCN_ENST00000366709.4_Splice_Site|OBSCN_ENST00000284548.11_Splice_Site	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGCGTCTCTGGTGAGCACGCT	0.652																																						uc009xez.1																			0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.e8+1		obscurin, cytoskeletal calmodulin and							30.0	33.0	32.0					1																	228404990		2183	4277	6460	SO:0001630	splice_region_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228404990G>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.2653+1G>T	1.37:g.228404990G>T						OBSCN_uc001hsn.2_Splice_Site_p.E885_splice	p.E885_splice	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			8	2697	+		Prostate(94;0.0405)						Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Splice_Site	SNP	ENST00000422127.1	37	c.2653_splice	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299471	0.40694	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	.	.	.	4.45	3.53	0.40419	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9763	0.47467	0.0921:0.0:0.9079:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OBSCN	226471613	1.000000	0.71417	0.858000	0.33744	0.420000	0.31355	7.321000	0.79088	1.088000	0.41272	0.655000	0.94253	.		0.652	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	Intron
CHML	1122	broad.mit.edu	37	1	241797601	241797601	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:241797601G>A	ENST00000366553.1	-	1	1631	c.1468C>T	c.(1468-1470)Cgg>Tgg	p.R490W	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	490					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TCTGTGACCCGTACAGCACAA	0.418																																						uc001hzd.2																			0				ovary(4)|skin(2)	6						c.(1468-1470)CGG>TGG		choroideremia-like Rab escort protein 2							91.0	88.0	89.0					1																	241797601		2203	4299	6502	SO:0001583	missense	1122				intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chr1:241797601G>A	X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.1468C>T	1.37:g.241797601G>A	ENSP00000355511:p.Arg490Trp					OPN3_uc001hza.2_Intron|OPN3_uc001hzb.2_Intron|OPN3_uc001hzc.2_Intron	p.R490W	NM_001821	NP_001812	P26374	RAE2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		1	1632	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	490					B2RAB9|Q17RE0|Q9H1Y4	Missense_Mutation	SNP	ENST00000366553.1	37	c.1468C>T	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919698	0.52653	.	.	ENSG00000203668	ENST00000366553	D	0.85411	-1.98	5.08	4.16	0.48862	.	0.522123	0.21275	N	0.077241	D	0.90638	0.7064	.	.	.	0.39309	D	0.965039	D	0.89917	1.0	D	0.80764	0.994	D	0.89968	0.4091	9	0.48119	T	0.1	-4.1822	11.3799	0.49750	0.089:0.0:0.911:0.0	.	490	P26374	RAE2_HUMAN	W	490	ENSP00000355511:R490W	ENSP00000355511:R490W	R	-	1	2	CHML	239864224	0.946000	0.32159	1.000000	0.80357	0.944000	0.59088	1.727000	0.38095	2.826000	0.97356	0.655000	0.94253	CGG		0.418	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	NM_001821	
OR2G6	391211	broad.mit.edu	37	1	248685648	248685648	+	Missense_Mutation	SNP	G	G	A	rs370636108		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:248685648G>A	ENST00000343414.4	+	1	733	c.701G>A	c.(700-702)cGc>cAc	p.R234H		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTGCGGGCCGCCAAAAGGCC	0.473																																						uc001ien.1																			0				ovary(2)|skin(1)	3						c.(700-702)CGC>CAC		olfactory receptor, family 2, subfamily G,		G	HIS/ARG	0,4406		0,0,2203	101.0	104.0	103.0		701	2.9	0.0	1		103	1,8599		0,1,4299	no	missense	OR2G6	NM_001013355.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	234/317	248685648	1,13005	2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685648G>A		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.701G>A	1.37:g.248685648G>A	ENSP00000341291:p.Arg234His						p.R234H	NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	701	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	234			Cytoplasmic (Potential).		B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.701G>A	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	11.29	1.596315	0.28445	0.0	1.16E-4	ENSG00000188558	ENST00000343414	T	0.00333	8.07	3.83	2.9	0.33743	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45361	U	0.000372	T	0.00875	0.0029	M	0.91872	3.25	0.09310	N	1	D	0.89917	1.0	D	0.65874	0.939	T	0.19128	-1.0315	10	0.87932	D	0	.	10.4637	0.44594	0.1003:0.0:0.8997:0.0	.	234	Q5TZ20	OR2G6_HUMAN	H	234	ENSP00000341291:R234H	ENSP00000341291:R234H	R	+	2	0	OR2G6	246752271	0.012000	0.17670	0.001000	0.08648	0.108000	0.19459	1.615000	0.36922	0.810000	0.34279	0.400000	0.26472	CGC		0.473	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842	
IDI2	91734	broad.mit.edu	37	10	1065753	1065753	+	Missense_Mutation	SNP	A	A	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr10:1065753A>T	ENST00000277517.1	-	5	452	c.388T>A	c.(388-390)Ttc>Atc	p.F130I	IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000437374.1_RNA|GTPBP4_ENST00000360803.4_3'UTR|IDI2-AS1_ENST00000434470.1_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000420381.1_RNA	NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2	130	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isopentenyl diphosphate metabolic process (GO:0046490)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		ATTGTCATGAACACAATGTCC	0.373																																						uc001ifv.1																			0					0						c.(388-390)TTC>ATC		isopentenyl-diphosphate delta isomerase 2							119.0	104.0	109.0					10																	1065753		2203	4300	6503	SO:0001583	missense	91734				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding	g.chr10:1065753A>T	AF271725	CCDS7055.1	10p15.3	2003-11-19			ENSG00000148377	ENSG00000148377			23487	protein-coding gene	gene with protein product		615389				12477932	Standard	NM_033261		Approved	IPPI2	uc001ifv.1	Q9BXS1	OTTHUMG00000017537	ENST00000277517.1:c.388T>A	10.37:g.1065753A>T	ENSP00000277517:p.Phe130Ile					C10orf110_uc010qaf.1_5'Flank|C10orf110_uc001ifx.3_5'Flank|C10orf110_uc001ifw.3_5'Flank|C10orf110_uc001ify.3_5'Flank	p.F130I	NM_033261	NP_150286	Q9BXS1	IDI2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)	5	453	-		Colorectal(49;0.235)	130			Nudix hydrolase.			Missense_Mutation	SNP	ENST00000277517.1	37	c.388T>A	CCDS7055.1	.	.	.	.	.	.	.	.	.	.	A	16.41	3.114473	0.56505	.	.	ENSG00000148377	ENST00000277517	T	0.08282	3.11	3.55	2.36	0.29203	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.201174	0.43747	U	0.000528	T	0.14614	0.0353	M	0.65975	2.015	0.09310	N	1	D	0.56287	0.975	P	0.50314	0.637	T	0.04976	-1.0914	10	0.59425	D	0.04	-10.2624	8.7455	0.34583	0.8079:0.1921:0.0:0.0	.	130	Q9BXS1	IDI2_HUMAN	I	130	ENSP00000277517:F130I	ENSP00000277517:F130I	F	-	1	0	IDI2	1055753	0.696000	0.27757	0.000000	0.03702	0.670000	0.39368	4.705000	0.61838	0.518000	0.28383	0.155000	0.16302	TTC		0.373	IDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046411.1	NM_033261	
SYT15	83849	broad.mit.edu	37	10	46962073	46962073	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr10:46962073A>G	ENST00000374321.4	-	8	1229	c.1163T>C	c.(1162-1164)aTg>aCg	p.M388T	SYT15_ENST00000374323.4_Missense_Mutation_p.M441T|SYT15_ENST00000503753.1_Intron|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374325.3_Intron|SYT15_ENST00000449358.2_5'Flank	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	388						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GCGGGTGTACATGTAGGGGCC	0.672																																					Ovarian(57;1152 1428 19651 37745)	uc001jea.2																			0					0						c.(1162-1164)ATG>ACG		synaptotagmin XV isoform a							47.0	57.0	54.0					10																	46962073		2119	4247	6366	SO:0001583	missense	83849					integral to membrane|plasma membrane		g.chr10:46962073A>G	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.1163T>C	10.37:g.46962073A>G	ENSP00000363441:p.Met388Thr					SYT15_uc001jdz.2_Intron|SYT15_uc001jeb.2_Missense_Mutation_p.M266T|SYT15_uc010qfp.1_RNA	p.M388T	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN			8	1316	-			388			Cytoplasmic (Potential).		A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Missense_Mutation	SNP	ENST00000374321.4	37	c.1163T>C	CCDS44376.1	.	.	.	.	.	.	.	.	.	.	.	19.41	3.822223	0.71028	.	.	ENSG00000204176	ENST00000374330;ENST00000374323;ENST00000374321	T;T	0.06608	3.28;3.28	4.71	4.71	0.59529	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.20251	0.0487	M	0.72118	2.19	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.02603	-1.1135	10	0.22706	T	0.39	.	12.7816	0.57480	1.0:0.0:0.0:0.0	.	388	Q9BQS2	SYT15_HUMAN	T	227;441;388	ENSP00000363443:M441T;ENSP00000363441:M388T	ENSP00000363441:M388T	M	-	2	0	SYT15	46382079	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.186000	0.77722	2.059000	0.61396	0.379000	0.24179	ATG		0.672	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912	
JMJD1C	221037	broad.mit.edu	37	10	64950737	64950737	+	Silent	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr10:64950737G>A	ENST00000399262.2	-	17	6426	c.6208C>T	c.(6208-6210)Ctg>Ttg	p.L2070L	JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000402544.1_Silent_p.L1833L|JMJD1C_ENST00000542921.1_Silent_p.L1888L	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2070					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)	p.L2070L(1)|p.L1833L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GTTGTAGTCAGCAAATCCCGT	0.463																																						uc001jmn.2																			2	Substitution - coding silent(2)		kidney(2)	ovary(4)|breast(1)|central_nervous_system(1)	6						c.(6208-6210)CTG>TTG		jumonji domain containing 1C isoform a							219.0	212.0	214.0					10																	64950737		1926	4129	6055	SO:0001819	synonymous_variant	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64950737G>A	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.6208C>T	10.37:g.64950737G>A						JMJD1C_uc001jml.2_Silent_p.L1833L|JMJD1C_uc001jmm.2_Silent_p.L1782L|JMJD1C_uc010qiq.1_Silent_p.L1888L|JMJD1C_uc009xpi.2_Silent_p.L1888L|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmo.2_5'UTR	p.L2070L	NM_032776	NP_116165	Q15652	JHD2C_HUMAN			17	6508	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		2070			LXXLL motif.		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Silent	SNP	ENST00000399262.2	37	c.6208C>T	CCDS41532.1																																																																																				0.463	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241	
CALHM2	51063	broad.mit.edu	37	10	105207008	105207008	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr10:105207008C>G	ENST00000260743.5	-	4	1396	c.873G>C	c.(871-873)caG>caC	p.Q291H	RP11-225H22.7_ENST00000608063.1_RNA|CALHM2_ENST00000369788.3_Missense_Mutation_p.Q291H|CALHM2_ENST00000494180.1_5'Flank	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	291					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						GTGGGAGGCCCTGGTTCTCAC	0.627																																						uc001kwz.2																			0				skin(1)	1						c.(871-873)CAG>CAC		calcium homeostasis modulator 2							70.0	61.0	64.0					10																	105207008		2203	4300	6503	SO:0001583	missense	51063					integral to membrane		g.chr10:105207008C>G	BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172			23493	protein-coding gene	gene with protein product		612235	"""family with sequence similarity 26, member B"""	FAM26B		18585350	Standard	NM_015916		Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.873G>C	10.37:g.105207008C>G	ENSP00000260743:p.Gln291His					CALHM2_uc001kxa.2_Missense_Mutation_p.Q291H|CALHM2_uc001kxc.2_3'UTR|CALHM2_uc001kxb.2_Missense_Mutation_p.Q291H	p.Q291H	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN			3	1259	-			291					D3DR94|O95893|Q6ZUV9	Missense_Mutation	SNP	ENST00000260743.5	37	c.873G>C	CCDS7549.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787227	0.49997	.	.	ENSG00000138172	ENST00000369788;ENST00000260743	T;T	0.18502	2.21;2.21	5.52	2.64	0.31445	.	0.262772	0.35677	N	0.003054	T	0.12561	0.0305	L	0.40543	1.245	0.80722	D	1	B	0.28605	0.217	B	0.25405	0.06	T	0.07986	-1.0744	10	0.56958	D	0.05	-5.2143	6.7202	0.23327	0.1239:0.6702:0.0:0.206	.	291	Q9HA72	CAHM2_HUMAN	H	291	ENSP00000358803:Q291H;ENSP00000260743:Q291H	ENSP00000260743:Q291H	Q	-	3	2	CALHM2	105196998	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.671000	0.25172	0.706000	0.31912	0.561000	0.74099	CAG		0.627	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050159.1	NM_015916	
MUC2	4583	broad.mit.edu	37	11	1093681	1093681	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr11:1093681G>C	ENST00000441003.2	+	30	5527	c.5500G>C	c.(5500-5502)Ggg>Cgg	p.G1834R	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Missense_Mutation_p.G122R	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGGAAGCACGGGGCCCCCCAC	0.617																																						uc001lsx.1																			0				lung(1)|breast(1)	2						c.(12574-12576)GGC>CGC		mucin 2 precursor	Pranlukast(DB01411)						160.0	202.0	188.0					11																	1093681		2102	4198	6300	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1093681G>C	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5500G>C	11.37:g.1093681G>C	ENSP00000415183:p.Gly1834Arg						p.G4192R	NM_002457	NP_002448	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	32	12601	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	4192	GTQ -> TGS (in Ref. 4).				Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.12574G>C		.	.	.	.	.	.	.	.	.	.	G	2.198	-0.383762	0.04966	.	.	ENSG00000198788	ENST00000441003;ENST00000333592	T;T	0.12255	2.7;2.94	1.55	0.557	0.17260	.	.	.	.	.	T	0.08758	0.0217	.	.	.	0.09310	N	1	B	0.16802	0.019	B	0.14578	0.011	T	0.33445	-0.9868	8	0.41790	T	0.15	.	5.6495	0.17608	0.1989:0.0:0.8011:0.0	.	1834	E7EUV1	.	R	1834;122	ENSP00000415183:G1834R;ENSP00000331373:G122R	ENSP00000331373:G122R	G	+	1	0	MUC2	1083681	0.002000	0.14202	0.001000	0.08648	0.010000	0.07245	0.983000	0.29552	-0.002000	0.14469	0.305000	0.20034	GGG		0.617	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	
CHRNA10	57053	broad.mit.edu	37	11	3688949	3688949	+	Silent	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr11:3688949C>T	ENST00000250699.2	-	4	479	c.408G>A	c.(406-408)ctG>ctA	p.L136L	Y_RNA_ENST00000363331.1_RNA|CHRNA10_ENST00000493827.2_5'Flank|CHRNA10_ENST00000534359.1_5'UTR	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	136					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell proliferation (GO:0042127)|synaptic transmission, cholinergic (GO:0007271)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perikaryon (GO:0043204)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	CATCGTGGCGCAGGACCACGT	0.731																																					Melanoma(153;17 1869 2949 7120 36888)	uc001lyf.2																			0				ovary(1)	1						c.(406-408)CTG>CTA		cholinergic receptor, nicotinic, alpha 10	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)						6.0	6.0	6.0					11																	3688949		2072	4009	6081	SO:0001819	synonymous_variant	57053				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	g.chr11:3688949C>T	AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	13800	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 10 (neuronal)"""	606372	"""cholinergic receptor, nicotinic, alpha polypeptide 10"""				Standard	NM_020402		Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844	ENST00000250699.2:c.408G>A	11.37:g.3688949C>T						CHRNA10_uc010qxt.1_5'UTR|CHRNA10_uc010qxu.1_5'UTR	p.L136L	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	4	480	-		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)	136			Extracellular (Potential).			Silent	SNP	ENST00000250699.2	37	c.408G>A	CCDS7745.1																																																																																				0.731	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032763.2		
QSER1	79832	broad.mit.edu	37	11	32979551	32979551	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr11:32979551C>T	ENST00000399302.2	+	8	4836	c.4501C>T	c.(4501-4503)Cgg>Tgg	p.R1501W	QSER1_ENST00000527788.1_Missense_Mutation_p.R1262W	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1501										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					ACCAAAGAAACGGAAAAAATG	0.413																																						uc001mty.2																			0				ovary(3)|central_nervous_system(2)|skin(1)	6						c.(4501-4503)CGG>TGG		glutamine and serine rich 1							86.0	80.0	82.0					11																	32979551		1856	4106	5962	SO:0001583	missense	79832							g.chr11:32979551C>T	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.4501C>T	11.37:g.32979551C>T	ENSP00000382241:p.Arg1501Trp					QSER1_uc001mtz.1_Missense_Mutation_p.R1262W|QSER1_uc001mua.2_Missense_Mutation_p.R1006W	p.R1501W	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN			8	4768	+	Breast(20;0.158)		1501					Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	c.4501C>T	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757031	0.69648	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	T;T	0.31247	1.83;1.5	5.9	2.89	0.33648	.	0.000000	0.64402	D	0.000018	T	0.53674	0.1811	M	0.66939	2.045	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.57814	-0.7746	10	0.87932	D	0	.	15.9345	0.79691	0.6327:0.3673:0.0:0.0	.	1262;1262;1501	C9JJ88;Q2KHR3-2;Q2KHR3	.;.;QSER1_HUMAN	W	1501;1262;1262	ENSP00000382241:R1501W;ENSP00000432766:R1262W	ENSP00000078652:R1262W	R	+	1	2	QSER1	32936127	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	1.463000	0.35277	0.319000	0.23209	0.650000	0.86243	CGG		0.413	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774	
AGBL2	79841	broad.mit.edu	37	11	47726094	47726094	+	Splice_Site	SNP	C	C	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr11:47726094C>G	ENST00000525123.1	-	7	872		c.e7+1		AGBL2_ENST00000357610.3_Splice_Site|AGBL2_ENST00000298861.4_Splice_Site|AGBL2_ENST00000529712.1_Splice_Site|AGBL2_ENST00000528244.1_Splice_Site	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2							cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						AGTCATATTACCAATATGATG	0.423																																						uc001ngg.2																			0				ovary(2)	2						c.e6+1		carboxypeptidase 2, cytosolic							104.0	96.0	98.0					11																	47726094		2201	4298	6499	SO:0001630	splice_region_variant	79841				proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	g.chr11:47726094C>G		CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"""cytoplasmic carboxypeptidase 2"""					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.586+1G>C	11.37:g.47726094C>G						AGBL2_uc010rhq.1_Splice_Site_p.E158_splice|AGBL2_uc001ngh.1_Splice_Site_p.E140_splice	p.E196_splice	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN			6	686	-								A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Splice_Site	SNP	ENST00000525123.1	37	c.586_splice	CCDS7944.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.958846	0.74016	.	.	ENSG00000165923	ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244;ENST00000532595;ENST00000420784;ENST00000530577	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3567	0.90359	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AGBL2	47682670	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.420000	0.66441	2.424000	0.82194	0.591000	0.81541	.		0.423	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783	Intron
EML3	256364	broad.mit.edu	37	11	62378668	62378668	+	Nonsense_Mutation	SNP	C	C	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr11:62378668C>A	ENST00000394773.2	-	3	650	c.343G>T	c.(343-345)Gag>Tag	p.E115*	EML3_ENST00000529309.1_Nonsense_Mutation_p.E115*|ROM1_ENST00000278833.3_5'Flank|EML3_ENST00000531557.1_5'Flank|EML3_ENST00000278845.4_Nonsense_Mutation_p.E116*|EML3_ENST00000494176.2_Nonsense_Mutation_p.E87*|ROM1_ENST00000534093.1_5'Flank	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	115						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCGCTAGGCTCTTCGCTGGCC	0.697																																						uc001ntu.1																			0				ovary(1)	1						c.(343-345)GAG>TAG		echinoderm microtubule associated protein like							12.0	14.0	14.0					11																	62378668		2165	4264	6429	SO:0001587	stop_gained	256364					cytoplasm|microtubule	protein binding	g.chr11:62378668C>A	AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.343G>T	11.37:g.62378668C>A	ENSP00000378254:p.Glu115*					EML3_uc001ntr.1_Nonsense_Mutation_p.E87*|EML3_uc001nts.1_Nonsense_Mutation_p.E87*|EML3_uc001ntt.1_Missense_Mutation_p.K11N|EML3_uc010rly.1_Nonsense_Mutation_p.E115*|EML3_uc009yny.1_5'UTR|ROM1_uc001ntv.2_5'Flank	p.E115*	NM_153265	NP_694997	Q32P44	EMAL3_HUMAN			3	651	-			115					Q6ZQW7|Q8NA55	Nonsense_Mutation	SNP	ENST00000394773.2	37	c.343G>T	CCDS8023.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.58|16.58	3.164016|3.164016	0.57476|0.57476	.|.	.|.	ENSG00000149499|ENSG00000149499	ENST00000394773;ENST00000278845;ENST00000494176;ENST00000529309;ENST00000466886;ENST00000466671;ENST00000419857|ENST00000394776	.|.	.|.	.|.	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	1.089210|.	0.07033|.	N|.	0.828766|.	.|T	.|0.65396	.|0.2687	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70200	.|-0.4937	.|3	0.24483|.	T|.	0.36|.	-19.7137|-19.7137	14.2488|14.2488	0.66007|0.66007	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	115;116;87;115;86;87;86|109	.|.	ENSP00000278845:E116X|.	E|R	-|-	1|2	0|0	EML3|EML3	62135244|62135244	0.919000|0.919000	0.31177|0.31177	0.871000|0.871000	0.34182|0.34182	0.240000|0.240000	0.25518|0.25518	1.949000|1.949000	0.40313|0.40313	2.515000|2.515000	0.84797|0.84797	0.462000|0.462000	0.41574|0.41574	GAG|AGA		0.697	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265	
CCDC87	55231	broad.mit.edu	37	11	66358101	66358101	+	Missense_Mutation	SNP	C	C	T	rs369370998		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr11:66358101C>T	ENST00000333861.3	-	1	2453	c.2386G>A	c.(2386-2388)Gag>Aag	p.E796K	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	796					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)			p.E796*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						ATCACTGGCTCGCCAAAGATT	0.532																																						uc001oiq.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2386-2388)GAG>AAG		coiled-coil domain containing 87		C	LYS/GLU	0,4400		0,0,2200	152.0	162.0	159.0		2386	5.6	1.0	11		159	1,8589	1.2+/-3.3	0,1,4294	no	missense	CCDC87	NM_018219.2	56	0,1,6494	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	796/850	66358101	1,12989	2200	4295	6495	SO:0001583	missense	55231							g.chr11:66358101C>T	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.2386G>A	11.37:g.66358101C>T	ENSP00000328487:p.Glu796Lys					CCS_uc001oir.2_5'Flank	p.E796K	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN			1	2454	-			796					Q8NE76	Missense_Mutation	SNP	ENST00000333861.3	37	c.2386G>A	CCDS8145.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326791	0.81690	0.0	1.16E-4	ENSG00000182791	ENST00000333861	T	0.27256	1.68	5.6	5.6	0.85130	.	0.336219	0.24488	N	0.038090	T	0.44350	0.1289	L	0.53249	1.67	0.41093	D	0.985613	D	0.69078	0.997	D	0.63033	0.91	T	0.28776	-1.0033	10	0.62326	D	0.03	.	15.0991	0.72258	0.0:1.0:0.0:0.0	.	796	Q9NVE4	CCD87_HUMAN	K	796	ENSP00000328487:E796K	ENSP00000328487:E796K	E	-	1	0	CCDC87	66114677	0.994000	0.37717	0.967000	0.41034	0.781000	0.44180	4.145000	0.58065	2.639000	0.89480	0.561000	0.74099	GAG		0.532	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219	
FAT3	120114	broad.mit.edu	37	11	92535042	92535042	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr11:92535042G>A	ENST00000298047.6	+	9	8880	c.8863G>A	c.(8863-8865)Gac>Aac	p.D2955N	FAT3_ENST00000409404.2_Missense_Mutation_p.D2955N|FAT3_ENST00000525166.1_Missense_Mutation_p.D2805N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2955	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGACACATCCGACGTTAATCG	0.522										TCGA Ovarian(4;0.039)																												uc001pdj.3																			0				ovary(4)|pancreas(1)	5						c.(8863-8865)GAC>AAC		FAT tumor suppressor homolog 3							62.0	64.0	63.0					11																	92535042		1971	4150	6121	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92535042G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.8863G>A	11.37:g.92535042G>A	ENSP00000298047:p.Asp2955Asn	TCGA Ovarian(4;0.039)					p.D2955N	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	8880	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2955			Cadherin 27.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.8863G>A		.	.	.	.	.	.	.	.	.	.	G	9.349	1.064923	0.20067	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.03468	3.92;3.92;3.92	5.6	3.67	0.42095	.	.	.	.	.	T	0.03871	0.0109	L	0.45228	1.405	0.44030	D	0.996756	B	0.16603	0.018	B	0.08055	0.003	T	0.42032	-0.9475	9	0.16896	T	0.51	.	10.4673	0.44616	0.0735:0.1349:0.7916:0.0	.	2955	Q8TDW7-3	.	N	2955;2955;2805	ENSP00000298047:D2955N;ENSP00000387040:D2955N;ENSP00000432586:D2805N	ENSP00000298047:D2955N	D	+	1	0	FAT3	92174690	0.969000	0.33509	0.145000	0.22337	0.432000	0.31715	3.020000	0.49643	0.677000	0.31305	0.563000	0.77884	GAC		0.522	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
HEPHL1	341208	broad.mit.edu	37	11	93839268	93839268	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr11:93839268A>G	ENST00000315765.9	+	17	3025	c.3017A>G	c.(3016-3018)cAt>cGt	p.H1006R		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	1006	Plastocyanin-like 6.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CATACCATCCATTATCATGCT	0.353																																						uc001pep.2																			0				ovary(3)	3						c.(3016-3018)CAT>CGT		hephaestin-like 1 precursor							139.0	137.0	138.0					11																	93839268		1888	4108	5996	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93839268A>G	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.3017A>G	11.37:g.93839268A>G	ENSP00000313699:p.His1006Arg					uc001pen.1_Intron	p.H1006R	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN			17	3174	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	1006			Extracellular (Potential).|Plastocyanin-like 6.	Copper 1; type 2 (By similarity).	Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.3017A>G	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.201986	0.79127	.	.	ENSG00000181333	ENST00000315765	D	0.99983	-11.16	5.95	4.81	0.61882	Cupredoxin (2);Multicopper oxidase, type 2 (1);	0.000000	0.85682	D	0.000000	D	0.99986	0.9997	H	0.98295	4.195	0.47994	D	0.999564	D	0.89917	1.0	D	0.97110	1.0	D	0.99923	1.1265	10	0.87932	D	0	-5.9568	12.3335	0.55054	0.9331:0.0:0.0669:0.0	.	1006	Q6MZM0	HPHL1_HUMAN	R	1006	ENSP00000313699:H1006R	ENSP00000313699:H1006R	H	+	2	0	HEPHL1	93478916	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.949000	0.75971	2.279000	0.76181	0.533000	0.62120	CAT		0.353	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947	
RNF26	79102	broad.mit.edu	37	11	119206267	119206267	+	Silent	SNP	T	T	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr11:119206267T>A	ENST00000311413.4	+	1	1031	c.435T>A	c.(433-435)gcT>gcA	p.A145A	RP11-334E6.10_ENST00000501918.2_RNA	NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN	ring finger protein 26	145						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		GCCTGGTGGCTTATGTGATCA	0.592																																						uc001pwh.2																			0				ovary(1)	1						c.(433-435)GCT>GCA		ring finger protein 26							98.0	84.0	88.0					11																	119206267		2199	4295	6494	SO:0001819	synonymous_variant	79102						zinc ion binding	g.chr11:119206267T>A	AB055622	CCDS8419.1	11q23	2008-07-21				ENSG00000173456		"""RING-type (C3HC4) zinc fingers"""	14646	protein-coding gene	gene with protein product	"""ring finger protein with leucine zipper"""	606130				11352657	Standard	NM_032015		Approved	MGC2642	uc001pwh.3	Q9BY78		ENST00000311413.4:c.435T>A	11.37:g.119206267T>A							p.A145A	NM_032015	NP_114404	Q9BY78	RNF26_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)	1	1031	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	145			Leu-rich.		Q542Y8	Silent	SNP	ENST00000311413.4	37	c.435T>A	CCDS8419.1																																																																																				0.592	RNF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388220.1	NM_032015	
C2CD5	9847	broad.mit.edu	37	12	22602814	22602815	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr12:22602814_22602815delAA	ENST00000333957.4	-	25	3137_3138	c.2882_2883delTT	c.(2881-2883)cttfs	p.L961fs	C2CD5_ENST00000545552.1_Frame_Shift_Del_p.L1015fs|C2CD5_ENST00000446597.1_Frame_Shift_Del_p.L1012fs|C2CD5_ENST00000544930.1_Frame_Shift_Del_p.L817fs|C2CD5_ENST00000542676.1_Frame_Shift_Del_p.L1012fs|C2CD5_ENST00000396028.2_Frame_Shift_Del_p.L1003fs|C2CD5_ENST00000536386.1_Frame_Shift_Del_p.L1014fs	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	961					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										TTACATTTATAAGACACTGTGC	0.411																																						uc001rfq.2																			0				ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						c.(2881-2883)CTTfs		hypothetical protein LOC9847																																				SO:0001589	frameshift_variant	9847						protein binding	g.chr12:22602814_22602815delAA	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.2882_2883delTT	12.37:g.22602814_22602815delAA	ENSP00000334229:p.Leu961fs					KIAA0528_uc010sir.1_Frame_Shift_Del_p.L817fs|KIAA0528_uc010sis.1_Frame_Shift_Del_p.L1012fs|KIAA0528_uc010sit.1_Frame_Shift_Del_p.L1014fs|KIAA0528_uc010siu.1_Frame_Shift_Del_p.L1012fs|KIAA0528_uc001rfr.2_Frame_Shift_Del_p.L1003fs	p.L961fs	NM_014802	NP_055617	Q86YS7	K0528_HUMAN			25	3110_3111	-			961					B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Frame_Shift_Del	DEL	ENST00000333957.4	37	c.2882_2883delTT	CCDS31758.1																																																																																				0.411	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802	
C12orf45	121053	broad.mit.edu	37	12	105380235	105380235	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr12:105380235C>G	ENST00000552951.1	+	1	148	c.105C>G	c.(103-105)gaC>gaG	p.D35E	C12orf45_ENST00000280749.5_Missense_Mutation_p.D35E	NM_152318.2	NP_689531.2	Q8N5I9	CL045_HUMAN	chromosome 12 open reading frame 45	35										large_intestine(1)|lung(2)	3						CGGGAAGCGACGGCCGCGGAG	0.706																																						uc001tlb.2																			0					0						c.(103-105)GAC>GAG		hypothetical protein LOC121053							14.0	18.0	17.0					12																	105380235		1951	4145	6096	SO:0001583	missense	121053							g.chr12:105380235C>G	BC032326	CCDS41825.1	12q23.3	2012-05-30			ENSG00000151131	ENSG00000151131			28628	protein-coding gene	gene with protein product						12477932	Standard	NM_152318		Approved	MGC40397	uc001tlb.3	Q8N5I9	OTTHUMG00000169822	ENST00000552951.1:c.105C>G	12.37:g.105380235C>G	ENSP00000447057:p.Asp35Glu						p.D35E	NM_152318	NP_689531	Q8N5I9	CL045_HUMAN			1	138	+			35						Missense_Mutation	SNP	ENST00000552951.1	37	c.105C>G	CCDS41825.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.831163	0.32329	.	.	ENSG00000151131	ENST00000552951;ENST00000280749	T;T	0.28069	1.63;1.63	3.8	-0.498	0.12019	.	0.483379	0.18469	N	0.140277	T	0.09335	0.0230	N	0.08118	0	0.20638	N	0.999879	B	0.06786	0.001	B	0.08055	0.003	T	0.29488	-1.0010	10	0.02654	T	1	-1.7778	2.5207	0.04679	0.1804:0.3576:0.3529:0.109	.	35	Q8N5I9	CL045_HUMAN	E	35	ENSP00000447057:D35E;ENSP00000280749:D35E	ENSP00000280749:D35E	D	+	3	2	C12orf45	103904365	0.222000	0.23652	0.947000	0.38551	0.609000	0.37215	-0.181000	0.09740	-0.095000	0.12351	0.555000	0.69702	GAC		0.706	C12orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406076.1	NM_152318	
HVCN1	84329	broad.mit.edu	37	12	111099056	111099056	+	Silent	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr12:111099056G>A	ENST00000356742.5	-	3	972	c.219C>T	c.(217-219)gaC>gaT	p.D73D	HVCN1_ENST00000439744.2_Silent_p.D53D|HVCN1_ENST00000242607.8_Silent_p.D73D|HVCN1_ENST00000548312.1_Silent_p.D73D			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	73					cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						CAGGGGCAACGTCAGGGGCTG	0.617																																						uc001trs.1																			0				skin(1)	1						c.(217-219)GAC>GAT		hydrogen voltage-gated channel 1							52.0	58.0	56.0					12																	111099056		2203	4300	6503	SO:0001819	synonymous_variant	84329				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	g.chr12:111099056G>A	BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"""Voltage-gated ion channels / Hydrogen voltage-gated channel"""	28240	protein-coding gene	gene with protein product	"""voltage sensor domain-only protein"""	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.219C>T	12.37:g.111099056G>A						HVCN1_uc001trq.1_Silent_p.D73D|HVCN1_uc001trt.1_Silent_p.D73D|HVCN1_uc010syd.1_Silent_p.D53D	p.D73D	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN			4	384	-			73			Cytoplasmic (Potential).		A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Silent	SNP	ENST00000356742.5	37	c.219C>T	CCDS31900.1																																																																																				0.617	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1	NM_032369	
RB1	5925	broad.mit.edu	37	13	48955550	48955550	+	Nonsense_Mutation	SNP	C	C	T	rs121913304		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr13:48955550C>T	ENST00000267163.4	+	17	1804	c.1666C>T	c.(1666-1668)Cga>Tga	p.R556*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	556	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.R556*(5)|p.C553fs*53(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ATGTGAACATCGAATCATGGA	0.333		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		29	Whole gene deletion(15)|Unknown(8)|Substitution - Nonsense(5)|Deletion - Frameshift(1)	p.?(7)|p.R556*(5)	bone(11)|breast(5)|eye(4)|central_nervous_system(4)|adrenal_gland(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|ovary(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	GRCh37	CM942039	RB1	M	rs121913304	c.(1666-1668)CGA>TGA		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						81.0	75.0	77.0					13																	48955550		2202	4300	6502	SO:0001587	stop_gained	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48955550C>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1666C>T	13.37:g.48955550C>T	ENSP00000267163:p.Arg556*	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.R556*	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	17	1832	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	556			Domain A.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.1666C>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	39	7.802642	0.98498	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.34	5.34	0.76211	.	0.156720	0.44285	D	0.000462	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.0281	0.92941	0.0:1.0:0.0:0.0	.	.	.	.	X	535;556	.	ENSP00000267163:R556X	R	+	1	2	RB1	47853551	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.611000	0.54132	2.488000	0.83962	0.650000	0.86243	CGA		0.333	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
OLFM4	10562	broad.mit.edu	37	13	53624151	53624151	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr13:53624151G>C	ENST00000219022.2	+	5	856	c.778G>C	c.(778-780)Gtt>Ctt	p.V260L		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	260	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		ACCGTCTGTGGTTCAGCTCAA	0.448																																						uc001vhl.2																			0				skin(1)	1						c.(778-780)GTT>CTT		olfactomedin 4 precursor							153.0	151.0	152.0					13																	53624151		2203	4300	6503	SO:0001583	missense	10562				cell adhesion	extracellular space		g.chr13:53624151G>C	AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.778G>C	13.37:g.53624151G>C	ENSP00000219022:p.Val260Leu					OLFM4_uc001vhk.1_Intron	p.V260L	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN		GBM - Glioblastoma multiforme(99;3.13e-08)	5	778	+		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	260			Olfactomedin-like.		O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	ENST00000219022.2	37	c.778G>C	CCDS9440.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.611120	0.28712	.	.	ENSG00000102837	ENST00000219022	D	0.88741	-2.42	5.63	2.9	0.33743	Olfactomedin-like (3);	0.453416	0.24534	N	0.037697	D	0.90061	0.6896	M	0.81497	2.545	0.09310	N	1	B	0.27068	0.167	B	0.37692	0.256	D	0.84506	0.0619	10	0.66056	D	0.02	.	10.9066	0.47084	0.2637:0.0:0.7363:0.0	.	260	Q6UX06	OLFM4_HUMAN	L	260	ENSP00000219022:V260L	ENSP00000219022:V260L	V	+	1	0	OLFM4	52522152	0.039000	0.19947	0.046000	0.18839	0.446000	0.32137	1.003000	0.29809	0.815000	0.34398	0.655000	0.94253	GTT		0.448	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418	
DCT	1638	broad.mit.edu	37	13	95121065	95121065	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr13:95121065G>A	ENST00000377028.5	-	2	943	c.530C>T	c.(529-531)gCc>gTc	p.A177V	DCT_ENST00000490854.1_5'Flank|DCT_ENST00000446125.1_Missense_Mutation_p.A177V	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	177					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		ACTGCAGTTGGCAAACTGCGG	0.458																																						uc001vlv.3																			0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(529-531)GCC>GTC		dopachrome tautomerase isoform 1							137.0	141.0	140.0					13																	95121065		2203	4300	6503	SO:0001583	missense	1638				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	g.chr13:95121065G>A	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.530C>T	13.37:g.95121065G>A	ENSP00000366227:p.Ala177Val					DCT_uc010afh.2_Missense_Mutation_p.A177V	p.A177V	NM_001922	NP_001913	P40126	TYRP2_HUMAN		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)	2	957	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)	177			Lumenal, melanosome (Potential).		Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	c.530C>T	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.616231	0.46631	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.85773	-2.03;-2.03	5.69	4.84	0.62591	Uncharacterised domain, di-copper centre (2);	0.366225	0.34531	N	0.003881	T	0.81394	0.4813	L	0.55213	1.73	0.45594	D	0.99853	B;B	0.25609	0.13;0.073	B;B	0.25759	0.063;0.04	T	0.76564	-0.2913	9	.	.	.	-17.6456	14.0835	0.64939	0.0719:0.0:0.9281:0.0	.	177;177	Q09GT4;P40126	.;TYRP2_HUMAN	V	177	ENSP00000366227:A177V;ENSP00000392762:A177V	.	A	-	2	0	DCT	93919066	1.000000	0.71417	0.999000	0.59377	0.931000	0.56810	3.827000	0.55745	2.677000	0.91161	0.655000	0.94253	GCC		0.458	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3		
AKAP6	9472	broad.mit.edu	37	14	33014783	33014783	+	Missense_Mutation	SNP	G	G	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr14:33014783G>T	ENST00000280979.4	+	4	1094	c.924G>T	c.(922-924)gaG>gaT	p.E308D	AKAP6_ENST00000557272.1_Missense_Mutation_p.E308D|AKAP6_ENST00000557354.1_Missense_Mutation_p.E308D	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	308					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GTGGATGTGAGGAAGACAATG	0.488																																					Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2																			0				breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(922-924)GAG>GAT		A-kinase anchor protein 6							101.0	92.0	95.0					14																	33014783		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33014783G>T	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.924G>T	14.37:g.33014783G>T	ENSP00000280979:p.Glu308Asp					AKAP6_uc010aml.2_Missense_Mutation_p.E305D	p.E308D	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	4	1094	+	Breast(36;0.0388)|Prostate(35;0.15)		308					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.924G>T	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	1.695	-0.502922	0.04261	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272;ENST00000553547	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.91	2.4	0.29515	.	0.453561	0.24081	N	0.041723	T	0.17874	0.0429	L	0.29908	0.895	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.06405	0.002;0.002	T	0.13602	-1.0503	10	0.44086	T	0.13	-0.7439	3.393	0.07295	0.2539:0.1078:0.5173:0.1211	.	308;308	A7E242;Q13023	.;AKAP6_HUMAN	D	308;308;308;66	ENSP00000280979:E308D;ENSP00000450531:E308D;ENSP00000451247:E308D;ENSP00000451239:E66D	ENSP00000280979:E308D	E	+	3	2	AKAP6	32084534	0.904000	0.30761	0.017000	0.16124	0.090000	0.18270	0.329000	0.19698	0.649000	0.30751	0.655000	0.94253	GAG		0.488	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274	
SERPINA6	866	broad.mit.edu	37	14	94776220	94776220	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr14:94776220G>A	ENST00000341584.3	-	3	883	c.737C>T	c.(736-738)tCg>tTg	p.S246L		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	246			S -> A (in dbSNP:rs2228541). {ECO:0000269|PubMed:15489334}.		glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GGGGAGCTCCGAGTCATGAAG	0.542																																						uc001ycv.2																			0				skin(3)|ovary(1)|central_nervous_system(1)	5						c.(736-738)GCG>GTG		corticosteroid binding globulin precursor	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)						136.0	111.0	120.0					14																	94776220		2203	4300	6503	SO:0001583	missense	866				regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	g.chr14:94776220G>A	J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"""Serine (or cysteine) peptidase inhibitors"""	1540	protein-coding gene	gene with protein product	"""corticosteroid binding globulin"", ""transcortin"""	122500	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"""	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.737C>T	14.37:g.94776220G>A	ENSP00000342850:p.Ser246Leu					SERPINA6_uc010auv.2_RNA	p.A246V	NM_001756	NP_001747	P08185	CBG_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	3	841	-		all_cancers(154;0.0482)|all_epithelial(191;0.166)	246					A8K456|Q7Z2Q9	Missense_Mutation	SNP	ENST00000341584.3	37	c.737C>T	CCDS9924.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.144079	0.37825	.	.	ENSG00000170099	ENST00000341584	D	0.88431	-2.38	5.32	1.25	0.21368	Serpin domain (3);	1.223890	0.05905	N	0.630684	D	0.86066	0.5844	L	0.60455	1.87	0.09310	N	1	P	0.37352	0.591	B	0.33196	0.159	T	0.74426	-0.3669	10	0.66056	D	0.02	.	9.3606	0.38192	0.0:0.2014:0.3047:0.4938	.	246	P08185	CBG_HUMAN	L	246	ENSP00000342850:S246L	ENSP00000342850:S246L	S	-	2	0	SERPINA6	93845973	0.000000	0.05858	0.000000	0.03702	0.198000	0.23893	-0.028000	0.12350	0.377000	0.24735	0.650000	0.86243	TCG		0.542	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413065.1	NM_001756	
SERPINA9	327657	broad.mit.edu	37	14	94935885	94935885	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr14:94935885A>G	ENST00000380365.3	-	2	371	c.293T>C	c.(292-294)cTg>cCg	p.L98P	SERPINA9_ENST00000298845.7_Intron|SERPINA9_ENST00000448305.2_Missense_Mutation_p.L18P|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000539349.1_5'Flank|SERPINA9_ENST00000337425.5_Missense_Mutation_p.L116P|SERPINA9_ENST00000546329.1_Missense_Mutation_p.L80P			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	98					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GTTGAAGCCCAGGCCCTGGAG	0.567																																						uc001ydf.2																			0				lung(1)|central_nervous_system(1)	2						c.(346-348)CTG>CCG		serine (or cysteine) proteinase inhibitor, clade							88.0	94.0	92.0					14																	94935885		2145	4264	6409	SO:0001583	missense	327657				regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	g.chr14:94935885A>G	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"""Serine (or cysteine) peptidase inhibitors"""	15995	protein-coding gene	gene with protein product		615677	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"""			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.293T>C	14.37:g.94935885A>G	ENSP00000369723:p.Leu98Pro					SERPINA9_uc001yde.2_Intron|SERPINA9_uc010avc.2_Intron|SERPINA9_uc001ydg.2_Missense_Mutation_p.L80P|SERPINA9_uc001ydh.1_Missense_Mutation_p.L116P|SERPINA9_uc001ydi.1_Missense_Mutation_p.L80P	p.L116P	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)	2	508	-		all_cancers(154;0.0691)|all_epithelial(191;0.233)	98					B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Missense_Mutation	SNP	ENST00000380365.3	37	c.347T>C		.	.	.	.	.	.	.	.	.	.	A	15.27	2.784750	0.49997	.	.	ENSG00000170054	ENST00000448305;ENST00000337425;ENST00000380365;ENST00000546329	D;D;D;D	0.95447	-3.71;-3.71;-3.71;-3.71	4.12	2.93	0.34026	Serpin domain (3);	0.159227	0.28465	N	0.015244	D	0.98188	0.9401	H	0.96301	3.8	0.48135	D	0.999597	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97833	1.0264	10	0.87932	D	0	.	10.7467	0.46185	0.8399:0.1601:0.0:0.0	.	80;98;18;116	Q86WD7-4;Q86WD7;Q86WD7-6;Q86WD7-7	.;SPA9_HUMAN;.;.	P	18;116;98;80	ENSP00000414092:L18P;ENSP00000337133:L116P;ENSP00000369723:L98P;ENSP00000445476:L80P	ENSP00000337133:L116P	L	-	2	0	SERPINA9	94005638	0.974000	0.33945	0.035000	0.18076	0.689000	0.40095	8.259000	0.89855	0.541000	0.28827	0.379000	0.24179	CTG		0.567	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2	NM_175739	
PCSK6	5046	broad.mit.edu	37	15	101933603	101933603	+	Silent	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr15:101933603G>A	ENST00000348070.1	-	9	1019	c.1020C>T	c.(1018-1020)ttC>ttT	p.F340F	PCSK6_ENST00000331826.7_Silent_p.F175F|PCSK6_ENST00000358417.3_Silent_p.F340F|PCSK6_ENST00000344273.2_Silent_p.F340F|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000398181.2_Silent_p.F340F	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	341	Peptidase S8.				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)	p.F340F(3)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATGCCCAGACGAAAATGGAGC	0.627																																						uc002bwy.2																			3	Substitution - coding silent(3)		large_intestine(3)	pancreas(2)	2						c.(1021-1023)TTC>TTT		paired basic amino acid cleaving system 4							42.0	50.0	47.0					15																	101933603		2193	4299	6492	SO:0001819	synonymous_variant	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101933603G>A		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.1020C>T	15.37:g.101933603G>A						PCSK6_uc010bpd.2_Silent_p.F211F|PCSK6_uc010bpe.2_Silent_p.F341F|PCSK6_uc002bxa.2_Silent_p.F341F|PCSK6_uc002bxb.2_Silent_p.F341F|PCSK6_uc002bxc.1_Silent_p.F341F|PCSK6_uc002bxd.1_Silent_p.F341F|PCSK6_uc002bxe.2_Silent_p.F341F|PCSK6_uc002bxg.1_Silent_p.F341F	p.F341F	NM_002570	NP_002561	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		9	1337	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		341			Catalytic.		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Silent	SNP	ENST00000348070.1	37	c.1023C>T																																																																																					0.627	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570	
CREBBP	1387	broad.mit.edu	37	16	3820625	3820625	+	Silent	SNP	A	A	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr16:3820625A>G	ENST00000262367.5	-	14	3635	c.2826T>C	c.(2824-2826)ccT>ccC	p.P942P	CREBBP_ENST00000382070.3_Silent_p.P904P	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	942					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCGATGACTGAGGGGTAGCCA	0.627			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2				Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		0				haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(2824-2826)CCT>CCC		CREB binding protein isoform a							94.0	115.0	108.0					16																	3820625		2197	4300	6497	SO:0001819	synonymous_variant	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3820625A>G	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.2826T>C	16.37:g.3820625A>G						CREBBP_uc002cvw.2_Silent_p.P904P	p.P942P	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	14	3030	-		Ovarian(90;0.0266)	942					D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	ENST00000262367.5	37	c.2826T>C	CCDS10509.1																																																																																				0.627	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	
ITGAD	3681	broad.mit.edu	37	16	31422196	31422196	+	Silent	SNP	G	G	A	rs374689836		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr16:31422196G>A	ENST00000389202.2	+	12	1402	c.1353G>A	c.(1351-1353)acG>acA	p.T451T		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	451					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCACAGGGACGCAGGTTGGGC	0.657																																						uc002ebv.1																			0				skin(1)	1						c.(1351-1353)ACG>ACA		integrin, alpha D precursor							38.0	36.0	37.0					16																	31422196		2197	4300	6497	SO:0001819	synonymous_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31422196G>A	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.1353G>A	16.37:g.31422196G>A						ITGAD_uc010cap.1_Silent_p.T451T	p.T451T	NM_005353	NP_005344	Q13349	ITAD_HUMAN			12	1402	+			451			Extracellular (Potential).|FG-GAP 5.		Q15575|Q15576	Silent	SNP	ENST00000389202.2	37	c.1353G>A	CCDS32438.1																																																																																				0.657	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353	
COQ9	57017	broad.mit.edu	37	16	57492187	57492187	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr16:57492187C>G	ENST00000262507.6	+	6	705	c.636C>G	c.(634-636)aaC>aaG	p.N212K	COQ9_ENST00000567072.1_Missense_Mutation_p.N177K|COQ9_ENST00000567933.1_Intron|AC009052.12_ENST00000567090.1_RNA	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	212					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						TCCCTCACAACATCCCGTCCA	0.562																																						uc002elq.2																			0				breast(1)	1						c.(634-636)AAC>AAG		coenzyme Q9 homolog precursor							100.0	67.0	78.0					16																	57492187		2198	4300	6498	SO:0001583	missense	57017				ubiquinone biosynthetic process	mitochondrion		g.chr16:57492187C>G	BC064946	CCDS32459.1	16q13	2013-10-18	2013-10-18	2006-01-13	ENSG00000088682	ENSG00000088682			25302	protein-coding gene	gene with protein product		612837	"""chromosome 16 open reading frame 49"", ""coenzyme Q9 homolog (yeast)"", ""coenzyme Q9 homolog (S. cerevisiae)"""	C16orf49		19375058	Standard	NM_020312		Approved	DKFZP434K046	uc002elq.3	O75208		ENST00000262507.6:c.636C>G	16.37:g.57492187C>G	ENSP00000262507:p.Asn212Lys					COQ9_uc002elr.2_Missense_Mutation_p.N177K|COQ9_uc002els.2_Missense_Mutation_p.N5K	p.N212K	NM_020312	NP_064708	O75208	COQ9_HUMAN			6	652	+			212					A8K3L2|Q7L5V7|Q7Z5T6|Q8NBL4|Q9NTJ2|Q9P056	Missense_Mutation	SNP	ENST00000262507.6	37	c.636C>G	CCDS32459.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016820	0.75161	.	.	ENSG00000088682	ENST00000262507	.	.	.	5.24	2.91	0.33838	COQ9 (1);	0.000000	0.85682	D	0.000000	T	0.76111	0.3942	M	0.93720	3.45	0.80722	D	1	P	0.48911	0.917	P	0.51918	0.684	T	0.80441	-0.1381	9	0.66056	D	0.02	-14.1914	9.5819	0.39493	0.0:0.747:0.0:0.253	.	212	O75208	COQ9_HUMAN	K	212	.	ENSP00000262507:N212K	N	+	3	2	COQ9	56049688	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.185000	0.50934	1.201000	0.43203	0.561000	0.74099	AAC		0.562	COQ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432598.3	NM_020312	
TP53	7157	broad.mit.edu	37	17	7577568	7577568	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr17:7577568C>A	ENST00000269305.4	-	7	902	c.713G>T	c.(712-714)tGt>tTt	p.C238F	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.C238F|TP53_ENST00000455263.2_Missense_Mutation_p.C238F|TP53_ENST00000445888.2_Missense_Mutation_p.C238F|TP53_ENST00000413465.2_Missense_Mutation_p.C238F|TP53_ENST00000359597.4_Missense_Mutation_p.C238F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	238	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGAACTGTTACACATGTAGTT	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		158	Substitution - Missense(131)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(4)	p.C238Y(47)|p.C238F(34)|p.C238S(18)|p.C238R(14)|p.0?(7)|p.C238*(4)|p.C238W(2)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.C238fs*9(1)|p.M237_N239delMCN(1)|p.C238fs*21(1)|p.C238del(1)|p.C238G(1)|p.C238C(1)|p.M237fs*1(1)|p.C145F(1)|p.H233fs*6(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.M237_C238insX(1)	breast(22)|ovary(17)|large_intestine(14)|haematopoietic_and_lymphoid_tissue(13)|endometrium(13)|lung(12)|upper_aerodigestive_tract(9)|pancreas(8)|soft_tissue(7)|urinary_tract(7)|oesophagus(7)|biliary_tract(6)|central_nervous_system(6)|liver(5)|bone(5)|stomach(4)|skin(2)|meninges(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM034930	TP53	M		c.(712-714)TGT>TTT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							132.0	103.0	113.0					17																	7577568		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577568C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.713G>T	17.37:g.7577568C>A	ENSP00000269305:p.Cys238Phe	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.C238F|TP53_uc002gih.2_Missense_Mutation_p.C238F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C106F|TP53_uc010cng.1_Missense_Mutation_p.C106F|TP53_uc002gii.1_Missense_Mutation_p.C106F|TP53_uc010cnh.1_Missense_Mutation_p.C238F|TP53_uc010cni.1_Missense_Mutation_p.C238F|TP53_uc002gij.2_Missense_Mutation_p.C238F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C145F|TP53_uc002gio.2_Missense_Mutation_p.C106F	p.C238F	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	907	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	238		C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.713G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262614	0.80358	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99964	-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96	4.09	4.09	0.47781	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99972	0.9991	M	0.92970	3.365	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.95847	0.8871	10	0.87932	D	0	-18.536	14.6088	0.68501	0.0:1.0:0.0:0.0	.	238;238;145;238;238;238	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	F	238;238;238;238;238;238;227;145;106;145	ENSP00000410739:C238F;ENSP00000352610:C238F;ENSP00000269305:C238F;ENSP00000398846:C238F;ENSP00000391127:C238F;ENSP00000391478:C238F;ENSP00000425104:C106F;ENSP00000423862:C145F	ENSP00000269305:C238F	C	-	2	0	TP53	7518293	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.556000	0.82233	2.564000	0.86499	0.462000	0.41574	TGT		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TP53	7157	broad.mit.edu	37	17	7578265	7578265	+	Missense_Mutation	SNP	A	A	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr17:7578265A>T	ENST00000269305.4	-	6	773	c.584T>A	c.(583-585)aTc>aAc	p.I195N	TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.I195N|TP53_ENST00000455263.2_Missense_Mutation_p.I195N|TP53_ENST00000445888.2_Missense_Mutation_p.I195N|TP53_ENST00000413465.2_Missense_Mutation_p.I195N|TP53_ENST00000359597.4_Missense_Mutation_p.I195N	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	195	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:9450901}.|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.I195T(69)|p.I195N(12)|p.I195S(10)|p.0?(8)|p.I195fs*14(5)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I63fs*14(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCCACTCGGATAAGATGCTG	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		134	Substitution - Missense(99)|Whole gene deletion(8)|Insertion - Frameshift(7)|Deletion - In frame(6)|Complex - deletion inframe(6)|Unknown(5)|Deletion - Frameshift(2)|Complex - frameshift(1)	p.I195T(61)|p.I195F(16)|p.I195N(12)|p.0?(7)|p.I195S(4)|p.A189_V197delAPPQHLIRV(4)|p.I195fs*14(3)|p.I195fs*52(3)|p.K164_P219del(1)|p.I195L(1)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.I195fs*12(1)	ovary(37)|breast(21)|large_intestine(18)|lung(10)|central_nervous_system(8)|biliary_tract(6)|haematopoietic_and_lymphoid_tissue(5)|skin(5)|stomach(4)|oesophagus(4)|bone(4)|endometrium(3)|urinary_tract(3)|upper_aerodigestive_tract(2)|liver(2)|pancreas(2)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(583-585)ATC>AAC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							100.0	89.0	93.0					17																	7578265		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578265A>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.584T>A	17.37:g.7578265A>T	ENSP00000269305:p.Ile195Asn	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.I195N|TP53_uc002gih.2_Missense_Mutation_p.I195N|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.I63N|TP53_uc010cng.1_Missense_Mutation_p.I63N|TP53_uc002gii.1_Missense_Mutation_p.I63N|TP53_uc010cnh.1_Missense_Mutation_p.I195N|TP53_uc010cni.1_Missense_Mutation_p.I195N|TP53_uc002gij.2_Missense_Mutation_p.I195N|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.I102N|TP53_uc002gio.2_Missense_Mutation_p.I63N|TP53_uc010vug.1_Missense_Mutation_p.I156N	p.I195N	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	778	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	195		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|I -> N (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.584T>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	14.23	2.474490	0.43942	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99828	-6.99;-6.99;-6.99;-6.99;-6.99;-6.99;-6.99;-6.99	5.41	3.21	0.36854	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.103171	0.64402	D	0.000004	D	0.99785	0.9910	M	0.90019	3.08	0.54753	D	0.999981	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.994;0.996;0.998;0.998;0.998	D	0.98429	1.0581	10	0.87932	D	0	-18.4587	8.2743	0.31864	0.8356:0.0:0.1644:0.0	.	156;195;195;102;195;195;195	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	195;195;195;195;195;195;184;102;63;102;63	ENSP00000410739:I195N;ENSP00000352610:I195N;ENSP00000269305:I195N;ENSP00000398846:I195N;ENSP00000391127:I195N;ENSP00000391478:I195N;ENSP00000425104:I63N;ENSP00000423862:I102N	ENSP00000269305:I195N	I	-	2	0	TP53	7518990	1.000000	0.71417	0.946000	0.38457	0.026000	0.11368	9.287000	0.95975	0.456000	0.26937	-0.256000	0.11100	ATC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
RAI1	10743	broad.mit.edu	37	17	17697820	17697820	+	Missense_Mutation	SNP	G	G	A	rs147708297		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr17:17697820G>A	ENST00000353383.1	+	3	2027	c.1558G>A	c.(1558-1560)Ggc>Agc	p.G520S	RAI1_ENST00000261641.6_Missense_Mutation_p.G520S	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	520					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CTACCTGAGCGGCTCCGAGGA	0.687													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16600	0.0		0.0	False		,,,				2504	0.0					uc002grm.2																			0				central_nervous_system(1)|skin(1)	2						c.(1558-1560)GGC>AGC		retinoic acid induced 1		G	SER/GLY	2,4404		0,2,2201	25.0	23.0	24.0		1558	5.1	1.0	17	dbSNP_134	24	0,8596		0,0,4298	no	missense	RAI1	NM_030665.3	56	0,2,6499	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	520/1907	17697820	2,13000	2203	4298	6501	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17697820G>A	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.1558G>A	17.37:g.17697820G>A	ENSP00000323074:p.Gly520Ser					RAI1_uc002grn.1_Missense_Mutation_p.G520S	p.G520S	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	2027	+			520					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.1558G>A	CCDS11188.1	4	0.0018315018315018315	3	0.006097560975609756	1	0.0027624309392265192	0	0.0	0	0.0	G	18.95	3.730933	0.69074	4.54E-4	0.0	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.74209	-0.82;1.47;-0.23	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.71134	0.3304	L	0.31804	0.96	0.43708	D	0.996174	D	0.89917	1.0	D	0.91635	0.999	T	0.68591	-0.5368	10	0.06099	T	0.92	.	18.5342	0.91004	0.0:0.0:1.0:0.0	.	520	Q7Z5J4	RAI1_HUMAN	S	520;520;520;520;520;472	ENSP00000323074:G520S;ENSP00000379120:G520S;ENSP00000261641:G520S	ENSP00000261641:G520S	G	+	1	0	RAI1	17638545	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.026000	0.76455	2.390000	0.81377	0.561000	0.74099	GGC		0.687	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665	
SLC13A2	9058	broad.mit.edu	37	17	26818573	26818573	+	Silent	SNP	C	C	T	rs146824818		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr17:26818573C>T	ENST00000314669.5	+	5	1113	c.693C>T	c.(691-693)atC>atT	p.I231I	SLC13A2_ENST00000545060.1_Silent_p.I188I|SLC13A2_ENST00000444914.3_Silent_p.I280I|SLC13A2_ENST00000537681.1_Silent_p.I160I	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	231					dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCGCCAGCATCGGGGGCATCG	0.632																																						uc002hbh.2																			0					0						c.(691-693)ATC>ATT		solute carrier family 13, member 2 isoform b	Succinic acid(DB00139)	C	,,	0,4406		0,0,2203	62.0	58.0	59.0		840,564,693	-0.8	1.0	17	dbSNP_134	59	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC13A2	NM_001145975.1,NM_001145976.1,NM_003984.3	,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,	280/642,188/550,231/593	26818573	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9058					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	g.chr17:26818573C>T	U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"""Solute carriers"""	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.693C>T	17.37:g.26818573C>T						SLC13A2_uc010wal.1_Silent_p.I188I|SLC13A2_uc010wam.1_Silent_p.I187I|SLC13A2_uc010wan.1_Silent_p.I280I|SLC13A2_uc010wao.1_Silent_p.I188I|SLC13A2_uc002hbi.2_Silent_p.I160I	p.I231I	NM_003984	NP_003975	Q13183	S13A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	5	760	+	all_lung(13;0.000871)|Lung NSC(42;0.0027)		231			Helical; (Potential).		B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Silent	SNP	ENST00000314669.5	37	c.693C>T	CCDS11231.1																																																																																				0.632	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1	NM_003984	
IFI35	3430	broad.mit.edu	37	17	41168349	41168349	+	IGR	SNP	A	A	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr17:41168349A>G	ENST00000415816.2	+	0	1241				VAT1_ENST00000587173.1_Missense_Mutation_p.I290T|VAT1_ENST00000420567.3_Missense_Mutation_p.I224T|VAT1_ENST00000355653.3_Missense_Mutation_p.I358T	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35						cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		GACTGAGTCAATGTGGGGCTT	0.607																																						uc002icm.1																			0					0						c.(1072-1074)ATT>ACT		vesicle amine transport protein 1							77.0	70.0	72.0					17																	41168349		2203	4300	6503	SO:0001628	intergenic_variant	10493					cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding	g.chr17:41168349A>G	BC001356	CCDS11450.1	17q21	2006-04-05			ENSG00000068079	ENSG00000068079			5399	protein-coding gene	gene with protein product		600735					Standard	NM_005533		Approved	IFP35	uc021txx.1	P80217	OTTHUMG00000167720		17.37:g.41168349A>G						VAT1_uc010cyw.1_Missense_Mutation_p.I224T|VAT1_uc010whk.1_Missense_Mutation_p.I290T	p.I358T	NM_006373	NP_006364	Q99536	VAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	5	1193	-		Breast(137;0.000717)	358					C9JGX1|Q92984|Q99537|Q9BV98	Missense_Mutation	SNP	ENST00000415816.2	37	c.1073T>C		.	.	.	.	.	.	.	.	.	.	A	15.91	2.973351	0.53614	.	.	ENSG00000108828	ENST00000355653;ENST00000542468;ENST00000420567	T;T	0.13778	3.29;2.56	5.21	5.21	0.72293	.	0.048579	0.85682	D	0.000000	T	0.45895	0.1365	M	0.93763	3.455	0.53005	D	0.99996	D;P	0.71674	0.998;0.935	P;P	0.62813	0.907;0.756	T	0.61515	-0.7047	10	0.87932	D	0	-6.1419	15.0776	0.72087	1.0:0.0:0.0:0.0	.	290;358	B4DPX4;Q99536	.;VAT1_HUMAN	T	358;265;224	ENSP00000347872:I358T;ENSP00000408553:I224T	ENSP00000347872:I358T	I	-	2	0	VAT1	38421875	1.000000	0.71417	0.413000	0.26509	0.313000	0.28021	9.297000	0.96120	1.985000	0.57927	0.459000	0.35465	ATT		0.607	IFI35-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000395851.1	NM_005533	
GRIN2C	2905	broad.mit.edu	37	17	72851132	72851132	+	Missense_Mutation	SNP	C	C	T	rs185678892		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr17:72851132C>T	ENST00000293190.5	-	2	246	c.100G>A	c.(100-102)Gtg>Atg	p.V34M	GRIN2C_ENST00000578159.1_Intron|GRIN2C_ENST00000347612.4_Missense_Mutation_p.V34M	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	34					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTAAACACCACAGCCACCGTC	0.706																																						uc002jlt.1																			0				ovary(2)|breast(2)	4						c.(100-102)GTG>ATG		N-methyl-D-aspartate receptor subunit 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						22.0	26.0	24.0					17																	72851132		2200	4299	6499	SO:0001583	missense	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72851132C>T		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.100G>A	17.37:g.72851132C>T	ENSP00000293190:p.Val34Met					GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Missense_Mutation_p.V34M|GRIN2C_uc002jlv.1_Missense_Mutation_p.V34M	p.V34M	NM_000835	NP_000826	Q14957	NMDE3_HUMAN			2	256	-	all_lung(278;0.172)|Lung NSC(278;0.207)		34			Extracellular (Potential).		B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	c.100G>A	CCDS32724.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.55	1.381823	0.24944	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.15718	2.4	4.49	3.5	0.40072	.	0.266904	0.30455	N	0.009600	T	0.31295	0.0792	M	0.64997	1.995	0.38511	D	0.948475	D;P;P	0.63880	0.993;0.921;0.923	P;P;P	0.60682	0.878;0.58;0.714	T	0.11275	-1.0594	10	0.66056	D	0.02	.	8.6494	0.34025	0.0:0.7661:0.1517:0.0822	.	34;68;34	Q6PCC5;Q8IW23;Q14957	.;.;NMDE3_HUMAN	M	34;68	ENSP00000293190:V34M	ENSP00000293190:V34M	V	-	1	0	GRIN2C	70362727	0.931000	0.31567	0.987000	0.45799	0.557000	0.35523	1.974000	0.40559	1.077000	0.40990	0.557000	0.71058	GTG		0.706	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1		
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T	rs201788045		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358																																						uc010dln.2																			12	Substitution - Missense(12)		endometrium(4)|kidney(3)|urinary_tract(2)|prostate(2)|soft_tissue(1)	skin(3)	3						c.(1429-1431)CGG>CAG		ANKRD26-like family B, member 2							13.0	9.0	10.0					18																	14513764		683	1543	2226	SO:0001583	missense	388468							g.chr18:14513764C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1430G>A	18.37:g.14513764C>T	ENSP00000351856:p.Arg477Gln					POTEC_uc010xaj.1_RNA	p.R477Q	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			10	1884	-			477						Missense_Mutation	SNP	ENST00000358970.5	37	c.1430G>A	CCDS45835.1	492	0.22527472527472528	61	0.12398373983739837	82	0.2265193370165746	187	0.3269230769230769	162	0.21372031662269128	c	0.001	-3.539655	0.00009	.	.	ENSG00000183206	ENST00000358970	T	0.20881	2.04	1.34	0.0657	0.14358	.	.	.	.	.	T	0.00012	0.0000	N	0.00116	-2.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42430	-0.9452	9	0.06757	T	0.87	.	3.4153	0.07373	0.0:0.2473:0.0:0.7527	.	477	B2RU33	POTEC_HUMAN	Q	477	ENSP00000351856:R477Q	ENSP00000351856:R477Q	R	-	2	0	POTEC	14503764	0.885000	0.30320	0.063000	0.19743	0.005000	0.04900	1.581000	0.36558	0.005000	0.14708	-1.615000	0.00797	CGG		0.358	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269	
ADAMTS10	81794	broad.mit.edu	37	19	8661249	8661249	+	Missense_Mutation	SNP	C	C	T	rs377333794		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:8661249C>T	ENST00000597188.1	-	10	1402	c.1132G>A	c.(1132-1134)Gtc>Atc	p.V378I	ADAMTS10_ENST00000270328.4_Missense_Mutation_p.V378I|ADAMTS10_ENST00000596709.1_5'Flank	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	378	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TCCTCATTGACGCTGCAGCTT	0.662																																						uc002mkj.1																			0				pancreas(2)|skin(2)	4						c.(1132-1134)GTC>ATC		ADAM metallopeptidase with thrombospondin type 1		C	ILE/VAL	0,4406		0,0,2203	45.0	37.0	40.0		1132	1.5	1.0	19		40	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADAMTS10	NM_030957.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	378/1104	8661249	1,13005	2203	4300	6503	SO:0001583	missense	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8661249C>T	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.1132G>A	19.37:g.8661249C>T	ENSP00000471851:p.Val378Ile					ADAMTS10_uc002mkk.1_Missense_Mutation_p.V10I	p.V378I	NM_030957	NP_112219	Q9H324	ATS10_HUMAN			10	1406	-			378			Peptidase M12B.		M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	c.1132G>A	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	C	0.438	-0.899991	0.02472	0.0	1.16E-4	ENSG00000142303	ENST00000270328;ENST00000393912	T	0.66099	-0.19	4.76	1.53	0.23141	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.196839	0.41605	N	0.000854	T	0.23451	0.0567	N	0.01109	-1.01	0.31090	N	0.710905	B;B	0.14805	0.011;0.001	B;B	0.15052	0.012;0.001	T	0.38415	-0.9662	10	0.02654	T	1	.	7.8111	0.29232	0.0:0.2488:0.0:0.7512	.	132;378	Q59FE5;Q9H324	.;ATS10_HUMAN	I	378;132	ENSP00000270328:V378I	ENSP00000270328:V378I	V	-	1	0	ADAMTS10	8567249	1.000000	0.71417	0.996000	0.52242	0.477000	0.33069	2.399000	0.44495	0.044000	0.15775	-0.391000	0.06502	GTC		0.662	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957	
MUC16	94025	broad.mit.edu	37	19	9050207	9050207	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:9050207G>A	ENST00000397910.4	-	5	31627	c.31424C>T	c.(31423-31425)aCc>aTc	p.T10475I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10477	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCTGTGGTGGTGGTCTCCAT	0.483																																						uc002mkp.2																			0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(31423-31425)ACC>ATC		mucin 16							365.0	362.0	363.0					19																	9050207		2103	4213	6316	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9050207G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.31424C>T	19.37:g.9050207G>A	ENSP00000381008:p.Thr10475Ile						p.T10475I	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			5	31628	-			10477			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.31424C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	7.258	0.604637	0.14002	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	3.77	1.59	0.23543	.	.	.	.	.	T	0.07279	0.0184	L	0.40543	1.245	.	.	.	D	0.76494	0.999	D	0.80764	0.994	T	0.22941	-1.0202	8	0.87932	D	0	.	5.1426	0.14967	0.1159:0.2133:0.6708:0.0	.	10475	B5ME49	.	I	10475	ENSP00000381008:T10475I	ENSP00000381008:T10475I	T	-	2	0	MUC16	8911207	0.002000	0.14202	0.016000	0.15963	0.045000	0.14185	1.025000	0.30090	0.559000	0.29153	0.580000	0.79431	ACC		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
RAVER1	125950	broad.mit.edu	37	19	10434234	10434234	+	Silent	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:10434234G>A	ENST00000293677.6	-	4	897	c.816C>T	c.(814-816)tgC>tgT	p.C272C	CTD-2369P2.12_ENST00000586529.1_5'Flank	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	255	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CATCCTGGCCGCACGCCAGCT	0.667																																						uc002moa.2																			0				ovary(1)	1						c.(814-816)TGC>TGT		RAVER1							23.0	27.0	26.0					19																	10434234		2187	4275	6462	SO:0001819	synonymous_variant	125950					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr19:10434234G>A		CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"""RNA binding motif (RRM) containing"""	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.816C>T	19.37:g.10434234G>A							p.C272C	NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		4	896	-			255			RRM 3.		A6NMU4|Q8IY60|Q8TF24	Silent	SNP	ENST00000293677.6	37	c.816C>T	CCDS45960.1																																																																																				0.667	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451227.1	NM_133452	
CYP4F8	11283	broad.mit.edu	37	19	15739191	15739191	+	RNA	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:15739191G>A	ENST00000441682.2	+	0	1256							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CCCTACATTCGCCCGCGGCTG	0.637																																						uc002nbi.2																			0				large_intestine(1)	1						c.(1195-1197)GCC>ACC		cytochrome P450, family 4, subfamily F,							65.0	75.0	71.0					19																	15739191		2203	4300	6503			11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15739191G>A	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"""Cytochrome P450s"""	2648	protein-coding gene	gene with protein product		611545	"""cytochrome P450, subfamily IVF, polypeptide 8"""			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15739191G>A						CYP4F8_uc010xoj.1_Missense_Mutation_p.A211T	p.A399T	NM_007253	NP_009184	P98187	CP4F8_HUMAN			12	1259	+			399						Missense_Mutation	SNP	ENST00000441682.2	37	c.1195G>A		.	.	.	.	.	.	.	.	.	.	.	2.731	-0.264411	0.05754	.	.	ENSG00000186526	ENST00000441682;ENST00000325723;ENST00000443973	.	.	.	3.45	-1.92	0.07618	.	0.613631	0.15571	N	0.255457	T	0.22044	0.0531	.	.	.	0.20563	N	0.999885	B;B	0.09022	0.001;0.002	B;B	0.09377	0.004;0.002	T	0.09574	-1.0668	7	0.45353	T	0.12	.	0.8169	0.01104	0.3168:0.1083:0.309:0.2659	.	211;399	B4DU85;P98187	.;CP4F8_HUMAN	T	398;211;248	.	ENSP00000314398:A211T	A	+	1	0	CYP4F8	15600191	0.000000	0.05858	0.054000	0.19295	0.001000	0.01503	0.109000	0.15417	-0.296000	0.08947	-2.243000	0.00286	GCC		0.637	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253	
OR10H1	26539	broad.mit.edu	37	19	15918727	15918727	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:15918727C>A	ENST00000334920.2	-	1	209	c.121G>T	c.(121-123)Ggc>Tgc	p.G41C		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						AGCAGGTTGCCCAGCAGCGTG	0.597																																						uc002nbq.2																			0					0						c.(121-123)GGC>TGC		olfactory receptor, family 10, subfamily H,							136.0	118.0	124.0					19																	15918727		2203	4297	6500	SO:0001583	missense	26539				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15918727C>A	AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"""GPCR / Class A : Olfactory receptors"""	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.121G>T	19.37:g.15918727C>A	ENSP00000335596:p.Gly41Cys						p.G41C	NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN			1	210	-			41			Helical; Name=1; (Potential).		Q6IFQ2|Q96R59	Missense_Mutation	SNP	ENST00000334920.2	37	c.121G>T	CCDS12335.1	.	.	.	.	.	.	.	.	.	.	c	17.77	3.470252	0.63625	.	.	ENSG00000186723	ENST00000334920	T	0.04454	3.62	4.47	4.47	0.54385	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000103	T	0.28034	0.0691	H	0.95745	3.715	0.34335	D	0.688137	D	0.89917	1.0	D	0.97110	1.0	T	0.52290	-0.8595	10	0.72032	D	0.01	.	8.4824	0.33052	0.0:0.8921:0.0:0.1079	.	41	Q9Y4A9	O10H1_HUMAN	C	41	ENSP00000335596:G41C	ENSP00000335596:G41C	G	-	1	0	OR10H1	15779727	0.145000	0.22656	1.000000	0.80357	0.994000	0.84299	3.905000	0.56333	2.040000	0.60383	0.643000	0.83706	GGC		0.597	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460364.1		
EPS15L1	58513	broad.mit.edu	37	19	16515514	16515514	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:16515514A>G	ENST00000248070.6	-	14	1452	c.1313T>C	c.(1312-1314)cTc>cCc	p.L438P	EPS15L1_ENST00000594975.1_Missense_Mutation_p.L438P|EPS15L1_ENST00000455140.2_Missense_Mutation_p.L438P|EPS15L1_ENST00000602009.1_Missense_Mutation_p.L284P|EPS15L1_ENST00000535753.2_Missense_Mutation_p.L438P|EPS15L1_ENST00000597937.1_Missense_Mutation_p.L438P	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	438					endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						CTGAGCCTCGAGCTCCTGCAA	0.542																																						uc002ndz.1																			0				ovary(3)|skin(2)	5						c.(1312-1314)CTC>CCC		epidermal growth factor receptor pathway							113.0	88.0	97.0					19																	16515514		2203	4300	6503	SO:0001583	missense	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16515514A>G	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.1313T>C	19.37:g.16515514A>G	ENSP00000248070:p.Leu438Pro					EPS15L1_uc002ndx.2_Missense_Mutation_p.L438P|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Missense_Mutation_p.L328P|EPS15L1_uc010xpf.1_Missense_Mutation_p.L341P|EPS15L1_uc002nea.1_Missense_Mutation_p.L438P|EPS15L1_uc010eah.1_Missense_Mutation_p.L438P|EPS15L1_uc002neb.1_Missense_Mutation_p.L284P|EPS15L1_uc002nec.1_Missense_Mutation_p.L438P	p.L438P	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN			14	1319	-			438					A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	ENST00000248070.6	37	c.1313T>C	CCDS32944.1	.	.	.	.	.	.	.	.	.	.	A	19.62	3.861459	0.71949	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	T;D;D	0.85013	1.56;-1.93;-1.93	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000001	D	0.92044	0.7479	M	0.79693	2.465	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;0.999;0.999;1.0;1.0	D	0.92613	0.6101	10	0.54805	T	0.06	.	14.0495	0.64727	1.0:0.0:0.0:0.0	.	438;438;437;438;438;438	A8K5P4;A5PL29;A5PKY0;A2RRF3;Q9UBC2;G3V0H2	.;.;.;.;EP15R_HUMAN;.	P	438	ENSP00000393313:L438P;ENSP00000248070:L438P;ENSP00000440103:L438P	ENSP00000248070:L438P	L	-	2	0	EPS15L1	16376514	0.999000	0.42202	0.837000	0.33122	0.661000	0.39034	7.341000	0.79300	1.918000	0.55548	0.533000	0.62120	CTC		0.542	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235	
PRX	57716	broad.mit.edu	37	19	40901148	40901148	+	Silent	SNP	T	T	C			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:40901148T>C	ENST00000324001.7	-	7	3381	c.3111A>G	c.(3109-3111)gaA>gaG	p.E1037E	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1037					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGGCACTAGTTCTGCTGCCT	0.627																																						uc002onr.2																			0				ovary(2)	2						c.(3109-3111)GAA>GAG		periaxin isoform 2							60.0	54.0	56.0					19																	40901148		2203	4300	6503	SO:0001819	synonymous_variant	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40901148T>C	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.3111A>G	19.37:g.40901148T>C						PRX_uc002onq.2_Silent_p.E898E|PRX_uc002ons.2_3'UTR	p.E1037E	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	3380	-			1037					Q9BXL9|Q9HCF2	Silent	SNP	ENST00000324001.7	37	c.3111A>G	CCDS33028.1																																																																																				0.627	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956	
C19orf54	284325	broad.mit.edu	37	19	41248416	41248416	+	Silent	SNP	G	G	A	rs372869249		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:41248416G>A	ENST00000378313.2	-	6	1097	c.978C>T	c.(976-978)taC>taT	p.Y326Y	C19orf54_ENST00000598485.2_Intron|C19orf54_ENST00000339153.3_Intron|C19orf54_ENST00000598729.1_Silent_p.Y154Y|C19orf54_ENST00000470681.1_3'UTR|C19orf54_ENST00000594163.1_5'Flank	NM_198476.3	NP_940878.3	Q5BKX5	CS054_HUMAN	chromosome 19 open reading frame 54	326										breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CGGGCACCACGTACACCCGGC	0.662																																						uc002oou.1																			0					0						c.(976-978)TAC>TAT		hypothetical protein LOC284325		G		1,4399		0,1,2199	27.0	27.0	27.0		978	-3.3	0.5	19		27	0,8594		0,0,4297	no	coding-synonymous	C19orf54	NM_198476.3		0,1,6496	AA,AG,GG		0.0,0.0227,0.0077		326/352	41248416	1,12993	2200	4297	6497	SO:0001819	synonymous_variant	284325							g.chr19:41248416G>A	AK123126	CCDS12564.2	19q13.2	2012-10-26			ENSG00000188493	ENSG00000188493			24758	protein-coding gene	gene with protein product							Standard	NM_198476		Approved	FLJ41131	uc002oou.1	Q5BKX5	OTTHUMG00000150174	ENST00000378313.2:c.978C>T	19.37:g.41248416G>A						C19orf54_uc002oow.1_Silent_p.Y154Y|C19orf54_uc002oox.1_Intron|C19orf54_uc002ooy.1_Intron|C19orf54_uc010xvs.1_Intron	p.Y326Y	NM_198476	NP_940878	Q5BKX5	CS054_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		6	1098	-			326					A8MSZ5|B4DNU7	Silent	SNP	ENST00000378313.2	37	c.978C>T	CCDS12564.2																																																																																				0.662	C19orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316701.1	NM_198476	
FOXA3	3171	broad.mit.edu	37	19	46375547	46375547	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:46375547C>T	ENST00000302177.2	+	2	481	c.284C>T	c.(283-285)cCg>cTg	p.P95L		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	95					cell differentiation (GO:0030154)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|chromatin modification (GO:0016568)|endocrine pancreas development (GO:0031018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		TACGGGGCCCCGGGTCCTGGG	0.682																																						uc002pdr.2																			0				breast(1)	1						c.(283-285)CCG>CTG		forkhead box A3							22.0	25.0	24.0					19																	46375547		2203	4298	6501	SO:0001583	missense	3171				brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr19:46375547C>T	L12141	CCDS12677.1	19q13.32	2014-09-11		2002-09-20	ENSG00000170608	ENSG00000170608		"""Forkhead boxes"""	5023	protein-coding gene	gene with protein product		602295	"""hepatocyte nuclear factor 3, gamma"""	HNF3G		9119385	Standard	NM_004497		Approved		uc002pdr.3	P55318	OTTHUMG00000182484	ENST00000302177.2:c.284C>T	19.37:g.46375547C>T	ENSP00000304004:p.Pro95Leu						p.P95L	NM_004497	NP_004488	P55318	FOXA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)	2	481	+		Ovarian(192;0.0308)|all_neural(266;0.0476)	95					A9LYI5|Q53F16|Q9UMW9	Missense_Mutation	SNP	ENST00000302177.2	37	c.284C>T	CCDS12677.1	.	.	.	.	.	.	.	.	.	.	C	5.888	0.348017	0.11126	.	.	ENSG00000170608	ENST00000302177	T	0.15718	2.4	4.09	4.09	0.47781	Fork-head N-terminal (1);	0.571490	0.13606	N	0.375503	T	0.09730	0.0239	N	0.19112	0.55	0.47905	D	0.999544	B	0.33288	0.406	B	0.22880	0.042	T	0.18555	-1.0333	10	0.11485	T	0.65	.	13.8403	0.63435	0.0:1.0:0.0:0.0	.	95	P55318	FOXA3_HUMAN	L	95	ENSP00000304004:P95L	ENSP00000304004:P95L	P	+	2	0	FOXA3	51067387	0.000000	0.05858	0.130000	0.21974	0.490000	0.33462	0.703000	0.25646	2.124000	0.65301	0.297000	0.19635	CCG		0.682	FOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461682.1		
MYH14	79784	broad.mit.edu	37	19	50713834	50713834	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:50713834G>A	ENST00000596571.1	+	1	212	c.212G>A	c.(211-213)cGg>cAg	p.R71Q	MYH14_ENST00000262269.8_Missense_Mutation_p.R71Q|MYH14_ENST00000376970.2_Missense_Mutation_p.R71Q|MYH14_ENST00000601313.1_Missense_Mutation_p.R71Q|MYH14_ENST00000598205.1_Missense_Mutation_p.R71Q|MYH14_ENST00000440075.2_Missense_Mutation_p.R71Q|MYH14_ENST00000425460.1_Missense_Mutation_p.R71Q			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	71					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCGGCGCTGCGGGACGAAGGC	0.736																																						uc002prr.1																			0				central_nervous_system(1)	1						c.(211-213)CGG>CAG		myosin, heavy chain 14 isoform 2							7.0	12.0	10.0					19																	50713834		2062	4141	6203	SO:0001583	missense	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50713834G>A	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.212G>A	19.37:g.50713834G>A	ENSP00000472819:p.Arg71Gln					MYH14_uc010enu.1_Missense_Mutation_p.R71Q|MYH14_uc002prq.1_Missense_Mutation_p.R71Q	p.R71Q	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	2	259	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	71			Myosin head-like.		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	c.212G>A	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.953703	0.34471	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.85861	-2.04;-2.04;-2.02;-2.04	4.65	3.59	0.41128	Myosin, N-terminal, SH3-like (1);	.	.	.	.	T	0.74268	0.3694	N	0.14661	0.345	0.23700	N	0.997074	B;B;P	0.41524	0.145;0.302;0.753	B;B;P	0.46275	0.068;0.112;0.51	T	0.62020	-0.6942	9	0.15066	T	0.55	.	5.8724	0.18810	0.0971:0.0:0.7101:0.1927	.	71;71;71	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	Q	71	ENSP00000406273:R71Q;ENSP00000366169:R71Q;ENSP00000407879:R71Q;ENSP00000262269:R71Q	ENSP00000262269:R71Q	R	+	2	0	MYH14	55405646	0.000000	0.05858	0.808000	0.32385	0.601000	0.36947	0.649000	0.24843	1.295000	0.44724	0.555000	0.69702	CGG		0.736	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729	
ZNF347	84671	broad.mit.edu	37	19	53644386	53644386	+	Silent	SNP	T	T	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:53644386T>A	ENST00000334197.7	-	5	1763	c.1695A>T	c.(1693-1695)ggA>ggT	p.G565G	ZNF347_ENST00000452676.2_Silent_p.G566G|ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					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(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAGGTTTTTCTCCAGTATGGA	0.408																																					Melanoma(64;205 1597 17324 45721)	uc002qbb.1																			0					0						c.(1693-1695)GGA>GGT		zinc finger protein 347							156.0	149.0	152.0					19																	53644386		2203	4300	6503	SO:0001819	synonymous_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644386T>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1695A>T	19.37:g.53644386T>A						ZNF347_uc010eql.1_Silent_p.G566G|ZNF347_uc002qbc.1_Silent_p.G566G	p.G565G	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	1764	-			565					B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	c.1695A>T	CCDS33097.1																																																																																				0.408	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584	
BIRC8	112401	broad.mit.edu	37	19	53793037	53793037	+	Silent	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:53793037G>A	ENST00000426466.1	-	1	1838	c.591C>T	c.(589-591)atC>atT	p.I197I		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	197					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		AAACAACAGCGATATGTCTGT	0.443																																						uc002qbk.2																			0				lung(1)	1						c.(589-591)ATC>ATT		baculoviral IAP repeat-containing 8							112.0	112.0	112.0					19																	53793037		2203	4300	6503	SO:0001819	synonymous_variant	112401				apoptosis		zinc ion binding	g.chr19:53793037G>A	AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"""Baculoviral IAP repeat containing"""	14878	protein-coding gene	gene with protein product	"""IAP-like protein 2"", ""inhibitor of apoptosis-like protein 2"""		"""baculoviral IAP repeat-containing 8"""			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.591C>T	19.37:g.53793037G>A							p.I197I	NM_033341	NP_203127	Q96P09	BIRC8_HUMAN		GBM - Glioblastoma multiforme(134;0.00304)	1	1839	-			197			RING-type.		Q6IPY1|Q96RW5	Silent	SNP	ENST00000426466.1	37	c.591C>T	CCDS12863.1																																																																																				0.443	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464357.1	NM_033341	
LILRB1	10859	broad.mit.edu	37	19	55144009	55144009	+	Nonsense_Mutation	SNP	C	C	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:55144009C>A	ENST00000396331.1	+	7	1113	c.756C>A	c.(754-756)taC>taA	p.Y252*	LILRB1_ENST00000418536.2_Nonsense_Mutation_p.Y252*|LILRB1_ENST00000396321.2_Nonsense_Mutation_p.Y252*|LILRB1_ENST00000396315.1_Nonsense_Mutation_p.Y252*|LILRB1_ENST00000448689.1_Nonsense_Mutation_p.Y252*|LILRB1_ENST00000396332.4_Nonsense_Mutation_p.Y252*|LILRB1_ENST00000434867.2_Nonsense_Mutation_p.Y252*|LILRB1_ENST00000396317.1_Nonsense_Mutation_p.Y252*|LILRB1_ENST00000427581.2_Nonsense_Mutation_p.Y288*|LILRB1_ENST00000324602.7_Nonsense_Mutation_p.Y252*|LILRB1_ENST00000396327.3_Nonsense_Mutation_p.Y252*	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	252	Ig-like C2-type 3.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		ATGCTGGCTACAACAGATTTG	0.587										HNSCC(37;0.09)																												uc002qgj.2																			0				large_intestine(1)|ovary(1)|skin(1)	3						c.(754-756)TAC>TAA		leukocyte immunoglobulin-like receptor,							100.0	105.0	103.0					19																	55144009		2203	4300	6503	SO:0001587	stop_gained	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55144009C>A	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.756C>A	19.37:g.55144009C>A	ENSP00000379622:p.Tyr252*	HNSCC(37;0.09)				LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Nonsense_Mutation_p.Y252*|LILRB1_uc002qgk.2_Nonsense_Mutation_p.Y252*|LILRB1_uc002qgm.2_Nonsense_Mutation_p.Y252*|LILRB1_uc010erq.2_Nonsense_Mutation_p.Y252*|LILRB1_uc010err.2_RNA	p.Y252*	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	7	1096	+			252			Ig-like C2-type 3.|Extracellular (Potential).		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Nonsense_Mutation	SNP	ENST00000396331.1	37	c.756C>A	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.722731	0.30503	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	.	.	.	2.02	-4.04	0.04010	.	0.885835	0.09404	N	0.806766	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.4483	0.07488	0.0:0.2724:0.221:0.5066	.	.	.	.	X	252;252;252;252;252;252;252;252;288;252;252	.	ENSP00000315997:Y252X	Y	+	3	2	LILRB1	59835821	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-5.602000	0.00110	-0.717000	0.04955	-1.206000	0.01644	TAC		0.587	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4		
GDF7	151449	broad.mit.edu	37	2	20870425	20870425	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:20870425G>A	ENST00000272224.3	+	2	1169	c.593G>A	c.(592-594)cGg>cAg	p.R198Q		NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7	198					activin receptor signaling pathway (GO:0032924)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching morphogenesis of an epithelial tube (GO:0048754)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|forebrain morphogenesis (GO:0048853)|gland morphogenesis (GO:0022612)|growth (GO:0040007)|midbrain development (GO:0030901)|morphogenesis of an epithelial fold (GO:0060571)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of tendon cell differentiation (GO:2001051)|positive regulation of transcription, DNA-templated (GO:0045893)|reproductive structure development (GO:0048608)|roof plate formation (GO:0021509)|spinal cord association neuron differentiation (GO:0021527)	extracellular space (GO:0005615)				breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTACTCGCGGGCAGCTGAG	0.731																																						uc002rdz.1																			0					0						c.(592-594)CGG>CAG		growth differentiation factor 7 preproprotein							4.0	5.0	5.0					2																	20870425		2053	4045	6098	SO:0001583	missense	151449				activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr2:20870425G>A	AF522369	CCDS1701.1	2p24.1	2008-05-22			ENSG00000143869	ENSG00000143869			4222	protein-coding gene	gene with protein product		604651				10022976, 9808626	Standard	NM_182828		Approved	BMP12	uc002rdz.1	Q7Z4P5	OTTHUMG00000090781	ENST00000272224.3:c.593G>A	2.37:g.20870425G>A	ENSP00000272224:p.Arg198Gln						p.R198Q	NM_182828	NP_878248	Q7Z4P5	GDF7_HUMAN			2	1169	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		198						Missense_Mutation	SNP	ENST00000272224.3	37	c.593G>A	CCDS1701.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.924949	0.73213	.	.	ENSG00000143869	ENST00000272224	T	0.70282	-0.47	3.66	2.77	0.32553	Transforming growth factor-beta, N-terminal (1);	0.215096	0.26180	U	0.025874	T	0.79209	0.4407	L	0.57536	1.79	0.28539	N	0.912203	D	0.89917	1.0	D	0.80764	0.994	T	0.72855	-0.4166	10	0.87932	D	0	.	11.1755	0.48596	0.0928:0.0:0.9072:0.0	.	198	Q7Z4P5	GDF7_HUMAN	Q	198	ENSP00000272224:R198Q	ENSP00000272224:R198Q	R	+	2	0	GDF7	20733906	0.999000	0.42202	0.990000	0.47175	0.383000	0.30230	6.117000	0.71577	0.876000	0.35872	0.462000	0.41574	CGG		0.731	GDF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207563.2	NM_182828	
CAPN13	92291	broad.mit.edu	37	2	30986009	30986009	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:30986009G>C	ENST00000295055.8	-	7	889	c.713C>G	c.(712-714)gCa>gGa	p.A238G	CAPN13_ENST00000465960.2_5'UTR|CAPN13_ENST00000534090.2_Missense_Mutation_p.A238G	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	238	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CATCGCCTGTGCTGTATCTGT	0.522																																						uc002rnn.2																			0				large_intestine(1)|ovary(1)	2						c.(712-714)GCA>GGA		calpain 13							61.0	66.0	64.0					2																	30986009		1992	4169	6161	SO:0001583	missense	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:30986009G>C		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.713C>G	2.37:g.30986009G>C	ENSP00000295055:p.Ala238Gly					CAPN13_uc002rnp.1_Missense_Mutation_p.A238G	p.A238G	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN			7	889	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		238			Calpain catalytic.		Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	ENST00000295055.8	37	c.713C>G	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	G	6.743	0.505840	0.12822	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	D;D	0.87412	-2.25;-2.25	4.78	2.71	0.32032	Peptidase C2, calpain, catalytic domain (3);	0.753217	0.12583	N	0.456271	D	0.83566	0.5282	L	0.49350	1.555	0.09310	N	1	B	0.31351	0.32	B	0.34991	0.193	T	0.72360	-0.4317	10	0.45353	T	0.12	.	9.3672	0.38232	0.0:0.0:0.4053:0.5947	.	238	Q6MZZ7	CAN13_HUMAN	G	238	ENSP00000295055:A238G;ENSP00000431298:A238G	ENSP00000295055:A238G	A	-	2	0	CAPN13	30839513	0.002000	0.14202	0.000000	0.03702	0.004000	0.04260	1.130000	0.31393	0.439000	0.26476	0.462000	0.41574	GCA		0.522	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575	
EHBP1	23301	broad.mit.edu	37	2	63086375	63086375	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:63086375G>C	ENST00000263991.5	+	9	1293	c.811G>C	c.(811-813)Gat>Cat	p.D271H	EHBP1_ENST00000354487.3_Missense_Mutation_p.D236H|AC007098.1_ENST00000452397.1_RNA|EHBP1_ENST00000405289.1_Missense_Mutation_p.D236H|EHBP1_ENST00000431489.1_Missense_Mutation_p.D236H|EHBP1_ENST00000405015.3_Missense_Mutation_p.D236H	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	271						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AAATCCATTTGATGATCCTGA	0.358																																						uc002sby.2																			0				ovary(1)|breast(1)	2						c.(811-813)GAT>CAT		EH domain binding protein 1 isoform 1							126.0	122.0	124.0					2																	63086375		2203	4300	6503	SO:0001583	missense	23301	Hereditary_Prostate_Cancer				cytoplasm|membrane		g.chr2:63086375G>C	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.811G>C	2.37:g.63086375G>C	ENSP00000263991:p.Asp271His					EHBP1_uc010fcp.2_Missense_Mutation_p.D236H|EHBP1_uc002sbx.2_Missense_Mutation_p.D236H|EHBP1_uc002sbz.2_Missense_Mutation_p.D236H|EHBP1_uc002scb.2_Missense_Mutation_p.D236H	p.D271H	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		9	1293	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		271					O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	ENST00000263991.5	37	c.811G>C	CCDS1872.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.288295	0.59976	.	.	ENSG00000115504	ENST00000405015;ENST00000405482;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	T;T;T;T;T;T	0.75050	-0.86;0.83;-0.86;-0.9;-0.86;-0.86	4.88	4.88	0.63580	.	0.191835	0.44688	D	0.000437	T	0.76435	0.3987	L	0.34521	1.04	0.58432	D	0.999997	P;B;B	0.35050	0.482;0.115;0.232	P;B;B	0.48524	0.58;0.303;0.376	T	0.77453	-0.2582	10	0.51188	T	0.08	.	18.0295	0.89278	0.0:0.0:1.0:0.0	.	236;236;271	Q8NDI1-2;Q8NDI1-3;Q8NDI1	.;.;EHBP1_HUMAN	H	236;236;236;271;236;236	ENSP00000384143:D236H;ENSP00000384829:D236H;ENSP00000403783:D236H;ENSP00000263991:D271H;ENSP00000346482:D236H;ENSP00000385524:D236H	ENSP00000263991:D271H	D	+	1	0	EHBP1	62939879	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	6.987000	0.76206	2.263000	0.75096	0.591000	0.81541	GAT		0.358	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252	
SMYD5	10322	broad.mit.edu	37	2	73449902	73449902	+	Missense_Mutation	SNP	G	G	A	rs116053390		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:73449902G>A	ENST00000389501.4	+	7	707	c.662G>A	c.(661-663)cGg>cAg	p.R221Q		NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	221	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						GAACTTCTGCGGAGACTCTTC	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		18165	0.0		0.001	False		,,,				2504	0.0					uc002siw.2																			0					0						c.(661-663)CGG>CAG		SMYD family member 5		G	GLN/ARG	0,4406		0,0,2203	44.0	41.0	42.0		662	3.7	1.0	2	dbSNP_132	42	3,8597	3.0+/-9.4	0,3,4297	yes	missense	SMYD5	NM_006062.2	43	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging	221/419	73449902	3,13003	2203	4300	6503	SO:0001583	missense	10322						metal ion binding	g.chr2:73449902G>A	U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"""Zinc fingers, MYND-type"""	16258	protein-coding gene	gene with protein product			"""retinoic acid induced 15"""	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.662G>A	2.37:g.73449902G>A	ENSP00000374152:p.Arg221Gln					SMYD5_uc010yre.1_Missense_Mutation_p.R105Q|SMYD5_uc002six.1_RNA	p.R221Q	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN			7	691	+			221					D6W5H3|Q13558	Missense_Mutation	SNP	ENST00000389501.4	37	c.662G>A	CCDS33221.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.06	2.719985	0.48728	0.0	3.49E-4	ENSG00000135632	ENST00000389501	T	0.42513	0.97	4.6	3.71	0.42584	SET domain (2);	0.180314	0.48767	D	0.000175	T	0.34513	0.0900	L	0.42245	1.32	0.35293	D	0.782328	B	0.23377	0.084	B	0.25291	0.059	T	0.38714	-0.9648	10	0.19147	T	0.46	-9.9667	13.3566	0.60631	0.0:0.0:0.8416:0.1584	.	221	Q6GMV2	SMYD5_HUMAN	Q	221	ENSP00000374152:R221Q	ENSP00000374152:R221Q	R	+	2	0	SMYD5	73303410	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.998000	0.49465	1.280000	0.44463	0.561000	0.74099	CGG		0.592	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318301.1	NM_006062	
SEMA4F	10505	broad.mit.edu	37	2	74907015	74907016	+	Frame_Shift_Ins	INS	-	-	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:74907015_74907016insG	ENST00000357877.2	+	14	2141_2142	c.1992_1993insG	c.(1993-1995)ggcfs	p.G665fs	SEMA4F_ENST00000339773.5_Frame_Shift_Ins_p.G510fs|SEMA4F_ENST00000473350.1_3'UTR	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	665					axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CGGGACTGGCTGGCTTCTTCTT	0.619																																						uc002sna.1																			0				ovary(2)|pancreas(1)|skin(1)	4						c.(1990-1995)GCTGGCfs		semaphorin W precursor				21,4243		0,21,2111						-5.0	0.7			43	47,8199		0,47,4076	no	frameshift	SEMA4F	NM_004263.3		0,68,6187	A1A1,A1R,RR		0.57,0.4925,0.5436				68,12442				SO:0001589	frameshift_variant	10505				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	g.chr2:74907015_74907016insG	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1994dupG	2.37:g.74907017_74907017dupG	ENSP00000350547:p.Gly665fs					SEMA4F_uc010ffr.1_Frame_Shift_Ins_p.A276fs|SEMA4F_uc002snb.1_Frame_Shift_Ins_p.A276fs|SEMA4F_uc002snc.1_Frame_Shift_Ins_p.A509fs	p.A664fs	NM_004263	NP_004254	O95754	SEM4F_HUMAN			14	2103_2104	+			664_665			Helical; (Potential).		Q542Y7|Q9NS35	Frame_Shift_Ins	INS	ENST00000357877.2	37	c.1992_1993insG	CCDS1955.1																																																																																				0.619	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263	
CLASP1	23332	broad.mit.edu	37	2	122220134	122220134	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:122220134C>T	ENST00000263710.4	-	10	1302	c.913G>A	c.(913-915)Gca>Aca	p.A305T	CLASP1_ENST00000455322.2_Missense_Mutation_p.A305T|CLASP1_ENST00000545861.1_Missense_Mutation_p.A73T|CLASP1_ENST00000409078.3_Missense_Mutation_p.A305T|CLASP1_ENST00000430234.1_5'UTR|CLASP1_ENST00000541859.1_Missense_Mutation_p.A74T|CLASP1_ENST00000541377.1_Missense_Mutation_p.A305T|CLASP1_ENST00000397587.3_Missense_Mutation_p.A305T	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	305					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TCATCAAATGCTTTAATAAAA	0.328																																						uc002tnc.2																			0				ovary(1)|central_nervous_system(1)	2						c.(913-915)GCA>ACA		CLIP-associating protein 1 isoform 1							92.0	87.0	88.0					2																	122220134		1852	4102	5954	SO:0001583	missense	23332				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122220134C>T	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.913G>A	2.37:g.122220134C>T	ENSP00000263710:p.Ala305Thr					CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.A305T|CLASP1_uc010yza.1_Missense_Mutation_p.A305T|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tng.1_Missense_Mutation_p.A305T	p.A305T	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN			10	1303	-	Renal(3;0.0496)		305					B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37	c.913G>A		.	.	.	.	.	.	.	.	.	.	C	19.35	3.810718	0.70797	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861;ENST00000418989;ENST00000449975	T;T;T;T;T;T;T;T	0.66099	-0.19;2.07;2.07;2.08;0.75;2.08;0.72;0.7	5.13	5.13	0.70059	Armadillo-type fold (1);	0.102584	0.64402	D	0.000003	T	0.62853	0.2462	M	0.67397	2.05	0.58432	D	0.999999	B;B;B;B	0.17268	0.008;0.013;0.01;0.021	B;B;B;B	0.15484	0.004;0.013;0.008;0.012	T	0.61143	-0.7122	10	0.52906	T	0.07	.	17.2951	0.87168	0.0:1.0:0.0:0.0	.	305;305;305;305	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	T	305;305;305;305;74;305;73;74;74	ENSP00000263710:A305T;ENSP00000389372:A305T;ENSP00000380717:A305T;ENSP00000441625:A305T;ENSP00000441770:A74T;ENSP00000386442:A305T;ENSP00000392886:A74T;ENSP00000402101:A74T	ENSP00000263710:A305T	A	-	1	0	CLASP1	121936604	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.163000	0.58183	2.824000	0.97209	0.655000	0.94253	GCA		0.328	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282	
MYO3B	140469	broad.mit.edu	37	2	171358331	171358331	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:171358331A>G	ENST00000408978.4	+	28	3469	c.3326A>G	c.(3325-3327)aAa>aGa	p.K1109R	MYO3B_ENST00000602629.1_Intron|MYO3B_ENST00000334231.6_Missense_Mutation_p.K1118R|MYO3B_ENST00000409044.3_Intron	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	1109	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AAATTTAAGAAAATAAGCAAC	0.348																																						uc002ufy.2																			0				lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						c.(3325-3327)AAA>AGA		myosin IIIB isoform 2							79.0	74.0	75.0					2																	171358331		1830	4091	5921	SO:0001583	missense	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171358331A>G		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.3326A>G	2.37:g.171358331A>G	ENSP00000386213:p.Lys1109Arg					MYO3B_uc002ufv.2_Missense_Mutation_p.K1096R|MYO3B_uc010fqb.1_Missense_Mutation_p.K1096R|MYO3B_uc002ufz.2_Intron|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_Intron|MYO3B_uc002ugb.2_Intron	p.K1109R	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN			28	3469	+			1109			IQ 2.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	c.3326A>G	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	A	13.18	2.158712	0.38119	.	.	ENSG00000071909	ENST00000408978;ENST00000317915;ENST00000334231	T;T	0.30182	1.54;1.54	5.76	4.6	0.57074	.	0.398524	0.29995	N	0.010679	T	0.27134	0.0665	L	0.42245	1.32	0.24595	N	0.993805	B;B	0.09022	0.002;0.0	B;B	0.15484	0.013;0.001	T	0.13176	-1.0519	10	0.30078	T	0.28	.	13.1465	0.59465	0.8665:0.1334:0.0:0.0	.	1109;1109	Q8WXR4-5;Q8WXR4	.;MYO3B_HUMAN	R	1109;1108;1118	ENSP00000386213:K1109R;ENSP00000335100:K1118R	ENSP00000314213:K1108R	K	+	2	0	MYO3B	171066577	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.099000	0.64554	1.001000	0.39076	0.459000	0.35465	AAA		0.348	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1		
DFNB59	494513	broad.mit.edu	37	2	179325759	179325759	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:179325759C>A	ENST00000409117.3	+	7	1173	c.817C>A	c.(817-819)Ctt>Att	p.L273I	DFNB59_ENST00000375129.4_Missense_Mutation_p.L273I	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	273					sensory perception of sound (GO:0007605)	neuronal cell body (GO:0043025)				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			CTTGGATGATCTTTTTTCTGA	0.348																																						uc002umi.3																			0					0						c.(817-819)CTT>ATT		deafness, autosomal recessive 59							231.0	206.0	214.0					2																	179325759		1867	4107	5974	SO:0001583	missense	494513				sensory perception of sound			g.chr2:179325759C>A	BC020859, BQ887979	CCDS42787.1	2q31.2	2011-07-01			ENSG00000204311	ENSG00000204311			29502	protein-coding gene	gene with protein product		610219				16804542	Standard	NM_001042702		Approved	pejvakin	uc002umi.4	Q0ZLH3	OTTHUMG00000154425	ENST00000409117.3:c.817C>A	2.37:g.179325759C>A	ENSP00000386647:p.Leu273Ile					DFNB59_uc002umj.3_Missense_Mutation_p.L273I	p.L273I	NM_001042702	NP_001036167	Q0ZLH3	PJVK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		7	1173	+			273					A0PK14|B9EJE2	Missense_Mutation	SNP	ENST00000409117.3	37	c.817C>A	CCDS42787.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.453780	0.43531	.	.	ENSG00000204311	ENST00000409117;ENST00000375129	T;T	0.62232	0.04;0.04	6.04	6.04	0.98038	.	0.241340	0.27327	U	0.019861	T	0.44540	0.1298	N	0.12182	0.205	0.26651	N	0.972091	B	0.12013	0.005	B	0.10450	0.005	T	0.18871	-1.0323	10	0.20519	T	0.43	-13.1904	15.3271	0.74172	0.1397:0.8603:0.0:0.0	.	273	Q0ZLH3	PJVK_HUMAN	I	273	ENSP00000386647:L273I;ENSP00000364271:L273I	ENSP00000364271:L273I	L	+	1	0	DFNB59	179034005	0.997000	0.39634	1.000000	0.80357	0.991000	0.79684	2.055000	0.41345	2.873000	0.98535	0.563000	0.77884	CTT		0.348	DFNB59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335160.1		
TTN	7273	broad.mit.edu	37	2	179423224	179423224	+	Missense_Mutation	SNP	T	T	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:179423224T>A	ENST00000591111.1	-	277	82263	c.82039A>T	c.(82039-82041)Aac>Tac	p.N27347Y	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N20115Y|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N20048Y|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N19923Y|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N26420Y|TTN_ENST00000589042.1_Missense_Mutation_p.N28988Y|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27347	Fibronectin type-III 99. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAACCCAGTTTTTCTGTCCT	0.438																																						uc010zfg.1																			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.(79258-79260)AAC>TAC		titin isoform N2-A							138.0	132.0	134.0					2																	179423224		1890	4134	6024	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179423224T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.82039A>T	2.37:g.179423224T>A	ENSP00000465570:p.Asn27347Tyr					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.N20115Y|TTN_uc010zfi.1_Missense_Mutation_p.N20048Y|TTN_uc010zfj.1_Missense_Mutation_p.N19923Y	p.N26420Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		276	79482	-			27347					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.79258A>T		.	.	.	.	.	.	.	.	.	.	T	15.48	2.847273	0.51164	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.76	5.76	0.90799	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.54515	0.1863	L	0.39020	1.185	0.30058	N	0.811163	B;B;B;B	0.30793	0.295;0.295;0.295;0.295	B;B;B;B	0.41299	0.353;0.353;0.353;0.353	T	0.61008	-0.7149	9	0.87932	D	0	.	16.3634	0.83296	0.0:0.0:0.0:1.0	.	19923;20048;20115;27347	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	26420;19923;20115;20048;19920	ENSP00000343764:N26420Y;ENSP00000434586:N19923Y;ENSP00000340554:N20115Y;ENSP00000352154:N20048Y	ENSP00000340554:N20115Y	N	-	1	0	TTN	179131470	1.000000	0.71417	0.950000	0.38849	0.996000	0.88848	5.153000	0.64888	2.324000	0.78689	0.533000	0.62120	AAC		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179424446	179424446	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:179424446C>A	ENST00000591111.1	-	276	81714	c.81490G>T	c.(81490-81492)Gac>Tac	p.D27164Y	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D19932Y|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D19865Y|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D19740Y|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D26237Y|TTN_ENST00000589042.1_Missense_Mutation_p.D28805Y|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27164	Ig-like 129.				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)			GTACGAGAGTCTGTGGTATCA	0.433																																						uc010zfg.1																			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.(78709-78711)GAC>TAC		titin isoform N2-A							166.0	158.0	161.0					2																	179424446		2053	4212	6265	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179424446C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.81490G>T	2.37:g.179424446C>A	ENSP00000465570:p.Asp27164Tyr					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D19932Y|TTN_uc010zfi.1_Missense_Mutation_p.D19865Y|TTN_uc010zfj.1_Missense_Mutation_p.D19740Y	p.D26237Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	78933	-			27164					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.78709G>T		.	.	.	.	.	.	.	.	.	.	C	11.12	1.546396	0.27652	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.87	4.99	0.66335	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65101	0.2659	M	0.87038	2.855	0.41853	D	0.990183	P;P;P;P	0.35107	0.484;0.484;0.484;0.484	P;P;P;P	0.52514	0.701;0.701;0.701;0.701	T	0.68678	-0.5345	9	0.87932	D	0	.	13.0317	0.58845	0.0:0.8739:0.0:0.1261	.	19740;19865;19932;27164	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	26237;19740;19932;19865;19737	ENSP00000343764:D26237Y;ENSP00000434586:D19740Y;ENSP00000340554:D19932Y;ENSP00000352154:D19865Y	ENSP00000340554:D19932Y	D	-	1	0	TTN	179132692	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	3.373000	0.52394	2.941000	0.99782	0.655000	0.94253	GAC		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
SGPP2	130367	broad.mit.edu	37	2	223339305	223339305	+	Missense_Mutation	SNP	G	G	A	rs147179845		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:223339305G>A	ENST00000321276.7	+	2	324	c.238G>A	c.(238-240)Gtc>Atc	p.V80I		NM_152386.2	NP_689599.2	Q8IWX5	SGPP2_HUMAN	sphingosine-1-phosphate phosphatase 2	80					dephosphorylation (GO:0016311)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		ACAGAAGTACGTCGTGAAGAA	0.363																																						uc010zlo.1																			0				central_nervous_system(1)|skin(1)	2						c.(238-240)GTC>ATC		sphingosine-1-phosphate phosphotase 2							137.0	140.0	139.0					2																	223339305		2202	4300	6502	SO:0001583	missense	130367				sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr2:223339305G>A	AF542512	CCDS2453.1	2q36.3	2010-05-26	2010-05-26		ENSG00000163082	ENSG00000163082			19953	protein-coding gene	gene with protein product		612827				12411432	Standard	NM_152386		Approved	SPP2, FLJ39004	uc010zlo.2	Q8IWX5	OTTHUMG00000133156	ENST00000321276.7:c.238G>A	2.37:g.223339305G>A	ENSP00000315137:p.Val80Ile					SGPP2_uc010zlp.1_5'UTR	p.V80I	NM_152386	NP_689599	Q8IWX5	SGPP2_HUMAN		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)	2	238	+		Renal(207;0.0376)	80					A3KPB4|Q8N8Q6	Missense_Mutation	SNP	ENST00000321276.7	37	c.238G>A	CCDS2453.1	.	.	.	.	.	.	.	.	.	.	G	5.402	0.259402	0.10239	.	.	ENSG00000163082	ENST00000321276	.	.	.	5.52	-3.08	0.05347	.	0.600257	0.16677	N	0.204134	T	0.20333	0.0489	N	0.10972	0.075	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.10567	-1.0624	9	0.36615	T	0.2	-4.5187	11.1444	0.48422	0.3499:0.1112:0.5389:0.0	.	80	Q8IWX5	SGPP2_HUMAN	I	80	.	ENSP00000315137:V80I	V	+	1	0	SGPP2	223047549	0.026000	0.19158	0.050000	0.19076	0.892000	0.51952	-0.280000	0.08468	-0.769000	0.04620	-0.459000	0.05422	GTC		0.363	SGPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256856.2		
SP140	11262	broad.mit.edu	37	2	231106159	231106159	+	Silent	SNP	C	C	T	rs569118981		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:231106159C>T	ENST00000392045.3	+	4	561	c.447C>T	c.(445-447)aaC>aaT	p.N149N	SP140_ENST00000343805.6_Silent_p.N149N|SP140_ENST00000420434.3_Silent_p.N149N|SP140_ENST00000417495.3_Silent_p.N149N|SP140_ENST00000350136.5_Silent_p.N129N|SP140_ENST00000486687.2_Silent_p.N149N	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	149					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ATAATGTAAACGATTTAGAAG	0.373																																						uc002vql.2																			0					0						c.(445-447)AAC>AAT		SP140 nuclear body protein isoform 1							154.0	142.0	145.0					2																	231106159		1896	4108	6004	SO:0001819	synonymous_variant	11262				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:231106159C>T	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.447C>T	2.37:g.231106159C>T						SP140_uc010zma.1_RNA|SP140_uc002vqk.2_Silent_p.N149N|SP140_uc002vqn.2_Silent_p.N149N|SP140_uc002vqm.2_Silent_p.N149N|SP140_uc010fxl.2_Silent_p.N149N	p.N149N	NM_007237	NP_009168	Q13342	LY10_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	4	562	+		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	149					E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Silent	SNP	ENST00000392045.3	37	c.447C>T	CCDS42831.1																																																																																				0.373	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237	
RBM44	375316	broad.mit.edu	37	2	238726827	238726827	+	Missense_Mutation	SNP	A	A	G	rs199755747		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:238726827A>G	ENST00000409864.1	+	3	1522	c.1268A>G	c.(1267-1269)cAg>cGg	p.Q423R	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000316997.4_Missense_Mutation_p.Q423R			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	422						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		AGAGATAATCAGGCAATAGAA	0.368													A|||	1	0.000199681	0.0	0.0	5008	,	,		20507	0.0		0.001	False		,,,				2504	0.0					uc002vxi.3																			0				ovary(4)	4						c.(1267-1269)CAG>CGG		RNA binding motif protein 44		A	ARG/GLN	0,3832		0,0,1916	47.0	44.0	45.0		1268	5.9	0.2	2		45	5,8239		0,5,4117	yes	missense	RBM44	NM_001080504.2	43	0,5,6033	GG,GA,AA		0.0607,0.0,0.0414	probably-damaging	423/1053	238726827	5,12071	1916	4122	6038	SO:0001583	missense	375316						nucleotide binding|RNA binding	g.chr2:238726827A>G	AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.1268A>G	2.37:g.238726827A>G	ENSP00000386727:p.Gln423Arg						p.Q423R	NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)	3	1400	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	422					A0AUW3	Missense_Mutation	SNP	ENST00000409864.1	37	c.1268A>G	CCDS46554.1	.	.	.	.	.	.	.	.	.	.	A	8.850	0.944442	0.18356	0.0	6.07E-4	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.27890	1.64;1.64	5.86	5.86	0.93980	.	0.539068	0.18014	N	0.154474	T	0.36496	0.0969	M	0.64997	1.995	0.09310	N	1	D	0.53619	0.961	P	0.47206	0.541	T	0.31641	-0.9936	10	0.19590	T	0.45	-2.7825	12.6445	0.56728	1.0:0.0:0.0:0.0	.	422	Q6ZP01	RBM44_HUMAN	R	423	ENSP00000321179:Q423R;ENSP00000386727:Q423R	ENSP00000321179:Q423R	Q	+	2	0	RBM44	238391566	0.007000	0.16637	0.181000	0.23098	0.008000	0.06430	1.752000	0.38349	2.241000	0.73720	0.482000	0.46254	CAG		0.368	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504	
TLDC2	140711	broad.mit.edu	37	20	35507541	35507541	+	Missense_Mutation	SNP	G	G	A	rs147682253		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr20:35507541G>A	ENST00000217320.3	+	3	331	c.287G>A	c.(286-288)cGg>cAg	p.R96Q	TLDC2_ENST00000602922.1_Missense_Mutation_p.R96Q	NM_080628.1	NP_542195.1	A0PJX2	TLDC2_HUMAN	TBC/LysM-associated domain containing 2	96	TLD.																CTGTACCGGCGGATGGAGGGC	0.667													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16990	0.0		0.0	False		,,,				2504	0.0					uc002xgg.1																			0					0						c.(286-288)CGG>CAG		hypothetical protein LOC140711		G	GLN/ARG	0,4406		0,0,2203	56.0	48.0	50.0		287	2.8	1.0	20	dbSNP_134	50	3,8597	3.0+/-9.4	0,3,4297	yes	missense	C20orf118	NM_080628.1	43	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	96/216	35507541	3,13003	2203	4300	6503	SO:0001583	missense	140711							g.chr20:35507541G>A	AL079335	CCDS33465.1	20q11.23	2013-03-14	2013-03-14	2013-03-14	ENSG00000101342	ENSG00000101342			16112	protein-coding gene	gene with protein product	"""hypothetical protein LOC140711"", ""TLD domain containing 2"""		"""chromosome 20 open reading frame 118"""	C20orf118			Standard	NM_080628		Approved	dJ132F21.2	uc002xgg.1	A0PJX2	OTTHUMG00000032400	ENST00000217320.3:c.287G>A	20.37:g.35507541G>A	ENSP00000217320:p.Arg96Gln						p.R96Q	NM_080628	NP_542195	A0PJX2	CT118_HUMAN			3	295	+		Myeloproliferative disorder(115;0.00874)	96			TLD.		B3KVU8	Missense_Mutation	SNP	ENST00000217320.3	37	c.287G>A	CCDS33465.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	11.91	1.779633	0.31502	0.0	3.49E-4	ENSG00000101342	ENST00000217320	T	0.43294	0.95	5.09	2.8	0.32819	TLDc (2);	0.434950	0.25161	N	0.032667	T	0.23451	0.0567	N	0.20807	0.61	0.25042	N	0.991192	B	0.16166	0.016	B	0.13407	0.009	T	0.10222	-1.0639	10	0.37606	T	0.19	-18.2428	5.183	0.15169	0.7535:0.0:0.2465:0.0	.	96	A0PJX2	CT118_HUMAN	Q	96	ENSP00000217320:R96Q	ENSP00000217320:R96Q	R	+	2	0	C20orf118	34940955	0.993000	0.37304	1.000000	0.80357	0.920000	0.55202	0.953000	0.29162	0.982000	0.38575	-0.302000	0.09304	CGG		0.667	TLDC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079060.2	NM_080628	
NEURL2	140825	broad.mit.edu	37	20	44519558	44519558	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr20:44519558G>A	ENST00000372518.4	-	1	368	c.73C>T	c.(73-75)Cgc>Tgc	p.R25C	CTSA_ENST00000354880.5_5'Flank|RP3-337O18.9_ENST00000607703.1_RNA|CTSA_ENST00000191018.5_5'Flank|CTSA_ENST00000372484.3_5'Flank|CTSA_ENST00000372459.2_5'Flank	NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	25	NHR. {ECO:0000255|PROSITE- ProRule:PRU00400}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|sarcomere organization (GO:0045214)	muscle tendon junction (GO:0005927)|VCB complex (GO:0030891)				large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				CGATGGAAGCGGGTGGGAGGG	0.711																																						uc002xqg.1																			0					0						c.(73-75)CGC>TGC		neuralized-like protein 2							4.0	4.0	4.0					20																	44519558		1863	3785	5648	SO:0001583	missense	140825				intracellular signal transduction			g.chr20:44519558G>A	AL008726	CCDS13384.1	20q13.12	2013-10-24	2013-10-24	2004-02-27	ENSG00000124257	ENSG00000124257			16156	protein-coding gene	gene with protein product		608597	"""chromosome 20 open reading frame 163"", ""neuralized-like 2 (Drosophila)"", ""neuralized homolog 2 (Drosophila)"""	C20orf163		12076535, 19723503	Standard	NM_001278535		Approved	dJ337O18.6, FLJ30259, Ozz, Ozz-E3	uc002xqg.2	Q9BR09	OTTHUMG00000032626	ENST00000372518.4:c.73C>T	20.37:g.44519558G>A	ENSP00000361596:p.Arg25Cys					CTSA_uc002xqh.2_5'Flank|CTSA_uc002xqj.3_5'Flank|CTSA_uc002xqi.2_5'Flank|CTSA_uc010zxi.1_5'Flank|CTSA_uc002xqk.3_5'Flank	p.R25C	NM_080749	NP_542787	Q9BR09	NEUL2_HUMAN			1	344	-		Myeloproliferative disorder(115;0.0122)	25			NHR.		Q3KR34	Missense_Mutation	SNP	ENST00000372518.4	37	c.73C>T	CCDS13384.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.809583	0.90707	.	.	ENSG00000124257	ENST00000372518	T	0.53857	0.6	4.88	4.88	0.63580	NEUZ (2);	0.301676	0.33515	N	0.004827	T	0.70824	0.3268	M	0.81614	2.55	0.80722	D	1	D	0.76494	0.999	P	0.60609	0.877	T	0.73905	-0.3835	9	.	.	.	-29.8625	16.3855	0.83503	0.0:0.0:1.0:0.0	.	25	Q9BR09	NEUL2_HUMAN	C	25	ENSP00000361596:R25C	.	R	-	1	0	NEURL2	43952965	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	3.626000	0.54245	2.526000	0.85167	0.561000	0.74099	CGC		0.711	NEURL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079539.2		
NFATC2	4773	broad.mit.edu	37	20	50140360	50140360	+	Silent	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr20:50140360C>T	ENST00000396009.3	-	2	639	c.420G>A	c.(418-420)ccG>ccA	p.P140P	NFATC2_ENST00000414705.1_Silent_p.P120P|NFATC2_ENST00000371564.3_Silent_p.P140P|NFATC2_ENST00000610033.1_Intron|NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000609943.1_Silent_p.P120P	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	140	Trans-activation domain A (TAD-A).				B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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 transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CGGCCAGGGGCGGCTGCTCCA	0.721																																						uc002xwd.2																			0				ovary(2)	2						c.(418-420)CCG>CCA		nuclear factor of activated T-cells,							8.0	11.0	10.0					20																	50140360		2168	4203	6371	SO:0001819	synonymous_variant	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50140360C>T	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.420G>A	20.37:g.50140360C>T						NFATC2_uc002xwc.2_Silent_p.P140P|NFATC2_uc010zyv.1_Intron|NFATC2_uc010zyw.1_Intron|NFATC2_uc010zyx.1_Silent_p.P120P|NFATC2_uc010zyy.1_Intron|NFATC2_uc010zyz.1_Intron|NFATC2_uc002xwe.2_Silent_p.P120P	p.P140P	NM_173091	NP_775114	Q13469	NFAC2_HUMAN			2	640	-	Hepatocellular(150;0.248)		140			Trans-activation domain A (TAD-A).		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Silent	SNP	ENST00000396009.3	37	c.420G>A	CCDS13437.1																																																																																				0.721	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340	
LAMA5	3911	broad.mit.edu	37	20	60912694	60912694	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr20:60912694G>A	ENST00000252999.3	-	16	2182	c.2116C>T	c.(2116-2118)Cgg>Tgg	p.R706W		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	706	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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)			GTGTCACACCGCAGCCCCGTC	0.667																																						uc002ycq.2																			0				ovary(1)|pancreas(1)|skin(1)	3						c.(2116-2118)CGG>TGG		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						39.0	35.0	37.0					20																	60912694		2196	4297	6493	SO:0001583	missense	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.chr20:60912694G>A	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.2116C>T	20.37:g.60912694G>A	ENSP00000252999:p.Arg706Trp						p.R706W	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		16	2183	-	Breast(26;1.57e-08)		706			Laminin EGF-like 8.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.2116C>T	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.124334	0.56613	.	.	ENSG00000130702	ENST00000252999	T	0.63417	-0.04	4.89	4.89	0.63831	EGF-like, laminin (4);EGF-like region, conserved site (1);	0.169018	0.50627	D	0.000115	D	0.83880	0.5350	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.63033	0.91	D	0.89126	0.3506	10	0.72032	D	0.01	.	18.0487	0.89341	0.0:0.0:1.0:0.0	.	706	O15230	LAMA5_HUMAN	W	706	ENSP00000252999:R706W	ENSP00000252999:R706W	R	-	1	2	LAMA5	60346089	0.006000	0.16342	0.423000	0.26634	0.412000	0.31113	1.537000	0.36083	2.249000	0.74217	0.650000	0.86243	CGG		0.667	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560	
APP	351	broad.mit.edu	37	21	27369692	27369692	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr21:27369692G>A	ENST00000346798.3	-	8	1106	c.1073C>T	c.(1072-1074)gCc>gTc	p.A358V	APP_ENST00000440126.3_Intron|APP_ENST00000439274.2_Missense_Mutation_p.A302V|APP_ENST00000448388.2_Intron|APP_ENST00000348990.5_Intron|APP_ENST00000358918.3_Missense_Mutation_p.A358V|APP_ENST00000354192.3_Intron|APP_ENST00000359726.3_Missense_Mutation_p.A302V|APP_ENST00000357903.3_Intron	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	358					adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				AGGATCTCGGGCAAGAGGTTC	0.438																																						uc002ylz.2																			0				ovary(1)	1						c.(1072-1074)GCC>GTC		amyloid beta A4 protein isoform a precursor							120.0	108.0	112.0					21																	27369692		2203	4300	6503	SO:0001583	missense	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27369692G>A	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.1073C>T	21.37:g.27369692G>A	ENSP00000284981:p.Ala358Val					APP_uc010glk.2_Intron|APP_uc002yma.2_Intron|APP_uc011ach.1_Missense_Mutation_p.A302V|APP_uc002ymb.2_Intron|APP_uc010glj.2_Intron|APP_uc011aci.1_Intron	p.A358V	NM_000484	NP_000475	P05067	A4_HUMAN			8	1273	-		Breast(209;0.00295)	358			Extracellular (Potential).		B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Missense_Mutation	SNP	ENST00000346798.3	37	c.1073C>T	CCDS13576.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.417557	0.25552	.	.	ENSG00000142192	ENST00000346798;ENST00000358918;ENST00000359726;ENST00000439274	D;D;D;D	0.96136	-1.95;-1.8;-3.92;-1.95	4.35	4.35	0.52113	.	0.543053	0.18633	N	0.135534	D	0.87253	0.6131	N	0.03608	-0.345	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.12156	0.007;0.007	T	0.82315	-0.0518	10	0.28530	T	0.3	-5.672	12.6867	0.56952	0.0:0.0:1.0:0.0	.	302;358	E9PG40;P05067	.;A4_HUMAN	V	358;358;302;302	ENSP00000284981:A358V;ENSP00000351796:A358V;ENSP00000352760:A302V;ENSP00000398879:A302V	ENSP00000284981:A358V	A	-	2	0	APP	26291563	1.000000	0.71417	1.000000	0.80357	0.619000	0.37552	3.817000	0.55668	2.723000	0.93209	0.655000	0.94253	GCC		0.438	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484	
TOP3B	8940	broad.mit.edu	37	22	22317253	22317253	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr22:22317253C>A	ENST00000398793.2	-	12	1651	c.1217G>T	c.(1216-1218)tGg>tTg	p.W406L	TOP3B_ENST00000413067.2_Missense_Mutation_p.W135L|TOP3B_ENST00000357179.5_Missense_Mutation_p.W406L	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	406					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)		ATAGAGCCGCCACGCGTCACC	0.617																																						uc002zvs.2																			0				kidney(1)	1						c.(1216-1218)TGG>TTG		topoisomerase (DNA) III beta							64.0	63.0	64.0					22																	22317253		2203	4300	6503	SO:0001583	missense	8940				DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding	g.chr22:22317253C>A	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.1217G>T	22.37:g.22317253C>A	ENSP00000381773:p.Trp406Leu					TOP3B_uc010gtm.1_5'UTR|TOP3B_uc002zvr.2_Missense_Mutation_p.W131L|TOP3B_uc010gtl.2_Missense_Mutation_p.W406L|TOP3B_uc002zvt.3_Missense_Mutation_p.W406L	p.W406L	NM_003935	NP_003926	O95985	TOP3B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	12	1652	-	Colorectal(54;0.105)		406					A0M8Q3|Q9BUP5	Missense_Mutation	SNP	ENST00000398793.2	37	c.1217G>T	CCDS13797.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.88|15.88	2.963560|2.963560	0.53507|0.53507	.|.	.|.	ENSG00000100038|ENSG00000100038	ENST00000457270|ENST00000357179;ENST00000398793;ENST00000413067	.|T;T;T	.|0.21031	.|2.03;2.03;2.03	4.59|4.59	4.59|4.59	0.56863|0.56863	.|DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central region, subdomain 3 (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, DNA-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.31358|0.31358	0.0794|0.0794	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	.|B;B	.|0.25105	.|0.118;0.096	.|B;B	.|0.30782	.|0.12;0.073	T|T	0.19647|0.19647	-1.0299|-1.0299	5|10	.|0.52906	.|T	.|0.07	.|.	17.5949|17.5949	0.88009|0.88009	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|406;406	.|O95985;O95985-2	.|TOP3B_HUMAN;.	C|L	201|406;406;135	.|ENSP00000349705:W406L;ENSP00000381773:W406L;ENSP00000393118:W135L	.|ENSP00000349705:W406L	G|W	-|-	1|2	0|0	TOP3B|TOP3B	20647253|20647253	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.476000|0.476000	0.33039|0.33039	7.038000|7.038000	0.76537|0.76537	2.368000|2.368000	0.80403|0.80403	0.563000|0.563000	0.77884|0.77884	GGC|TGG		0.617	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320251.1	NM_003935	
ADRBK2	157	broad.mit.edu	37	22	26086159	26086159	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr22:26086159G>A	ENST00000324198.6	+	12	1153	c.961G>A	c.(961-963)Gca>Aca	p.A321T		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	321	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)		ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	TGTTTAGCCAGCAAATATTCT	0.398																																						uc003abx.3																			0				lung(3)|ovary(2)|stomach(1)|central_nervous_system(1)	7						c.(961-963)GCA>ACA		beta-adrenergic receptor kinase 2	Adenosine triphosphate(DB00171)						100.0	95.0	97.0					22																	26086159		2203	4300	6503	SO:0001583	missense	157						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity	g.chr22:26086159G>A	X69117	CCDS13832.1	22q11	2013-01-10			ENSG00000100077	ENSG00000100077		"""Pleckstrin homology (PH) domain containing"""	290	protein-coding gene	gene with protein product		109636				7695743	Standard	NM_005160		Approved	GRK3, BARK2	uc003abx.4	P35626	OTTHUMG00000150280	ENST00000324198.6:c.961G>A	22.37:g.26086159G>A	ENSP00000317578:p.Ala321Thr					ADRBK2_uc010gux.2_Missense_Mutation_p.A321T|ADRBK2_uc003abw.2_Missense_Mutation_p.A208T|ADRBK2_uc003aby.3_RNA	p.A321T	NM_005160	NP_005151	P35626	ARBK2_HUMAN			12	1108	+			321			Protein kinase.		Q9UGW9	Missense_Mutation	SNP	ENST00000324198.6	37	c.961G>A	CCDS13832.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.771300	0.90108	.	.	ENSG00000100077	ENST00000324198;ENST00000545323	T	0.25912	1.77	4.36	4.36	0.52297	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	0.44329	0.1288	L	0.48174	1.505	0.80722	D	1	D;D	0.71674	0.997;0.998	P;D	0.72338	0.889;0.977	T	0.40831	-0.9542	10	0.66056	D	0.02	-21.3652	16.4417	0.83903	0.0:0.0:1.0:0.0	.	321;321	A8K869;P35626	.;ARBK2_HUMAN	T	321	ENSP00000317578:A321T	ENSP00000317578:A321T	A	+	1	0	ADRBK2	24416159	1.000000	0.71417	0.956000	0.39512	0.981000	0.71138	9.003000	0.93577	2.416000	0.81992	0.561000	0.74099	GCA		0.398	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317296.4	NM_005160	
OSBP2	23762	broad.mit.edu	37	22	31137264	31137264	+	Missense_Mutation	SNP	T	T	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr22:31137264T>G	ENST00000332585.6	+	2	865	c.761T>G	c.(760-762)cTc>cGc	p.L254R	OSBP2_ENST00000407373.1_Missense_Mutation_p.L81R|OSBP2_ENST00000382310.3_Missense_Mutation_p.L254R|OSBP2_ENST00000403222.3_Missense_Mutation_p.L89R|OSBP2_ENST00000446658.2_Missense_Mutation_p.L254R	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	254	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						AGCTACCACCTCAAGGCCAGC	0.612																																						uc003aiy.1																			0				breast(1)|skin(1)	2						c.(760-762)CTC>CGC		oxysterol binding protein 2 isoform a							39.0	43.0	42.0					22																	31137264		2049	4172	6221	SO:0001583	missense	23762				lipid transport	membrane	lipid binding	g.chr22:31137264T>G		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.761T>G	22.37:g.31137264T>G	ENSP00000332576:p.Leu254Arg					OSBP2_uc011ala.1_Missense_Mutation_p.L89R|OSBP2_uc010gwc.1_Missense_Mutation_p.L81R|OSBP2_uc003aix.1_Missense_Mutation_p.L254R|OSBP2_uc011alb.1_Missense_Mutation_p.L254R|OSBP2_uc003aiz.1_Missense_Mutation_p.L254R	p.L254R	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN			2	865	+			254			PH.		B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Missense_Mutation	SNP	ENST00000332585.6	37	c.761T>G	CCDS43002.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.496609	0.85069	.	.	ENSG00000184792	ENST00000438716;ENST00000403222;ENST00000407373;ENST00000332585;ENST00000382310;ENST00000446658	T;T;T;T;T	0.80994	0.03;0.03;-1.44;-1.44;-1.44	5.17	5.17	0.71159	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	D	0.000001	D	0.94082	0.8103	H	0.99143	4.445	0.80722	D	1	P;D;D;D;D	0.89917	0.756;1.0;1.0;1.0;1.0	P;D;D;D;D	0.97110	0.739;0.999;0.999;1.0;1.0	D	0.96134	0.9095	10	0.59425	D	0.04	-12.8963	14.6853	0.69044	0.0:0.0:0.0:1.0	.	254;89;81;254;254	B4DFA8;B4DKE4;Q6ZN50;Q0VF99;Q969R2	.;.;.;.;OSBP2_HUMAN	R	89;89;81;254;254;254	ENSP00000384213:L89R;ENSP00000385237:L81R;ENSP00000332576:L254R;ENSP00000371747:L254R;ENSP00000392080:L254R	ENSP00000332576:L254R	L	+	2	0	OSBP2	29467264	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.040000	0.89188	1.952000	0.56665	0.379000	0.24179	CTC		0.612	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758	
MORC2	22880	broad.mit.edu	37	22	31336801	31336801	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr22:31336801C>T	ENST00000397641.3	-	10	1256	c.848G>A	c.(847-849)cGt>cAt	p.R283H	MORC2_ENST00000469915.1_5'UTR|MORC2_ENST00000215862.4_Missense_Mutation_p.R221H			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	283						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						GGTCTTGAAACGGCTTGACGT	0.567																																						uc003aje.1																			0				ovary(1)|pancreas(1)	2						c.(661-663)CGT>CAT		MORC family CW-type zinc finger 2							271.0	210.0	231.0					22																	31336801		2203	4300	6503	SO:0001583	missense	22880						ATP binding|zinc ion binding	g.chr22:31336801C>T	AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 1"", ""zinc finger, CW type with coiled-coil domain 1"""	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.848G>A	22.37:g.31336801C>T	ENSP00000380763:p.Arg283His						p.R221H	NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN			11	2026	-			283			Potential.		B2RNB1|Q9UF28|Q9Y6V2	Missense_Mutation	SNP	ENST00000397641.3	37	c.662G>A		.	.	.	.	.	.	.	.	.	.	C	24.3	4.510917	0.85389	.	.	ENSG00000133422	ENST00000397641;ENST00000215862	T;T	0.13089	2.62;2.62	5.82	5.82	0.92795	ATPase-like, ATP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.41604	0.1166	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.09975	-1.0650	10	0.56958	D	0.05	.	20.0926	0.97825	0.0:1.0:0.0:0.0	.	283	Q9Y6X9	MORC2_HUMAN	H	283;221	ENSP00000380763:R283H;ENSP00000215862:R221H	ENSP00000215862:R221H	R	-	2	0	MORC2	29666801	1.000000	0.71417	0.989000	0.46669	0.992000	0.81027	7.459000	0.80802	2.745000	0.94114	0.561000	0.74099	CGT		0.567	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	NM_014941	
ZFYVE20	64145	broad.mit.edu	37	3	15115967	15115967	+	Silent	SNP	C	C	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:15115967C>A	ENST00000253699.3	-	14	2290	c.1677G>T	c.(1675-1677)ctG>ctT	p.L559L	ZFYVE20_ENST00000476527.2_Silent_p.L559L	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	559	Necessary for the interaction with EHD1.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						TGCTGGGCTCCAGCTGAAAAG	0.572																																						uc003bzm.1																			0				skin(2)	2						c.(1675-1677)CTG>CTT		FYVE-finger-containing Rab5 effector protein							58.0	58.0	58.0					3																	15115967		2203	4300	6503	SO:0001819	synonymous_variant	64145				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chr3:15115967C>A	AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"""Zinc fingers, FYVE domain containing"""	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.1677G>T	3.37:g.15115967C>A						ZFYVE20_uc010hek.1_Silent_p.L559L	p.L559L	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN			14	2291	-			559			Necessary for the interaction with EHD1.		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Silent	SNP	ENST00000253699.3	37	c.1677G>T	CCDS2623.1																																																																																				0.572	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340	
DHX30	22907	broad.mit.edu	37	3	47888187	47888187	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:47888187G>A	ENST00000445061.1	+	11	2032	c.1625G>A	c.(1624-1626)cGt>cAt	p.R542H	DHX30_ENST00000446256.2_Missense_Mutation_p.R503H|DHX30_ENST00000457607.1_Missense_Mutation_p.R570H|MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000348968.4_Missense_Mutation_p.R514H	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	542	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		ATCCTGCTGCGTAAGCTGCAG	0.627																																						uc003cru.2																			0				ovary(2)|skin(2)	4						c.(1624-1626)CGT>CAT		DEAH (Asp-Glu-Ala-His) box polypeptide 30							56.0	50.0	52.0					3																	47888187		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47888187G>A	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.1625G>A	3.37:g.47888187G>A	ENSP00000405620:p.Arg542His					DHX30_uc003crt.2_Missense_Mutation_p.R503H|MIR1226_hsa-mir-1226|MI0006313_5'Flank	p.R542H	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	11	2051	+			542			Helicase ATP-binding.		A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.1625G>A	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068221	0.76301	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.27104	1.69;1.69;1.69;1.69	4.81	4.81	0.61882	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.118148	0.53938	D	0.000048	T	0.55114	0.1900	M	0.91872	3.25	0.42732	D	0.993711	D;D	0.89917	1.0;0.973	D;B	0.69307	0.963;0.368	T	0.63629	-0.6594	10	0.56958	D	0.05	.	10.511	0.44862	0.0889:0.0:0.9111:0.0	.	542;503	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	H	503;542;514;570	ENSP00000392601:R503H;ENSP00000405620:R542H;ENSP00000343442:R514H;ENSP00000394682:R570H	ENSP00000343442:R514H	R	+	2	0	DHX30	47863191	1.000000	0.71417	0.994000	0.49952	0.973000	0.67179	4.535000	0.60629	2.219000	0.72066	0.462000	0.41574	CGT		0.627	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615	
RNF123	63891	broad.mit.edu	37	3	49724639	49724639	+	5'Flank	SNP	A	A	G	rs41291704		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:49724639A>G	ENST00000327697.6	+	0	0				MST1_ENST00000545762.1_Silent_p.A131A|MST1_ENST00000449682.2_Missense_Mutation_p.Y184H|MST1_ENST00000383728.3_Missense_Mutation_p.Y109H|RNF123_ENST00000432042.1_5'Flank|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_5'UTR	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TCTGTTGTGTAGCACCAAGGA	0.627																																						uc003cxg.2																			0				lung(1)	1						c.(550-552)TAC>CAC		macrophage stimulating 1 (hepatocyte growth							37.0	38.0	38.0					3																	49724639		2202	4300	6502	SO:0001631	upstream_gene_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49724639A>G	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891		3.37:g.49724639A>G	Exception_encountered					MST1_uc011bcs.1_Missense_Mutation_p.Y184H|MST1_uc010hkx.2_Missense_Mutation_p.Y105H|MST1_uc011bct.1_Missense_Mutation_p.Y184H|MST1_uc011bcu.1_RNA|RNF123_uc003cxh.2_5'Flank	p.Y184H	NM_020998	NP_066278	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	5	622	-			170			Kringle 1.		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.550T>C	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.916533	0.92249	.	.	ENSG00000173531	ENST00000449682;ENST00000383728	T;T	0.73681	-0.77;-0.77	6.08	6.08	0.98989	Kringle (4);Kringle-like fold (1);	0.000000	0.38436	N	0.001682	D	0.87047	0.6080	M	0.81341	2.54	0.80722	D	1	D;P;P	0.89917	1.0;0.926;0.667	D;P;P	0.97110	1.0;0.852;0.66	D	0.88267	0.2927	10	0.66056	D	0.02	.	16.6512	0.85203	1.0:0.0:0.0:0.0	rs41291704	170;170;184	B7Z538;P26927;G3XAK1	.;HGFL_HUMAN;.	H	184;109	ENSP00000414287:Y184H;ENSP00000373234:Y109H	ENSP00000373234:Y109H	Y	-	1	0	MST1	49699643	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	9.332000	0.96446	2.333000	0.79357	0.482000	0.46254	TAC		0.627	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064	
NEK4	6787	broad.mit.edu	37	3	52778291	52778291	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:52778291G>A	ENST00000233027.5	-	11	2060	c.1858C>T	c.(1858-1860)Cga>Tga	p.R620*	NEK4_ENST00000383721.4_Nonsense_Mutation_p.R574*|NEK4_ENST00000535191.1_Nonsense_Mutation_p.R531*	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	620					mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		TGCTTTAGTCGCCTCCTCTCT	0.413																																						uc003dfq.3																			0				large_intestine(1)	1						c.(1858-1860)CGA>TGA		NIMA-related kinase 4							212.0	208.0	209.0					3																	52778291		2203	4300	6503	SO:0001587	stop_gained	6787				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:52778291G>A	L20321	CCDS2863.1, CCDS54593.1	3p21.1	2012-11-15	2012-11-15	2002-05-10	ENSG00000114904	ENSG00000114904	2.7.11.1		11399	protein-coding gene	gene with protein product	"""serine/threonine protein kinase-2"""	601959	"""serine/threonine kinase 2"", ""NIMA (never in mitosis gene a)-related kinase 4"""	STK2		8208544	Standard	NM_001193533		Approved	NRK2, pp12301	uc003dfq.4	P51957	OTTHUMG00000158836	ENST00000233027.5:c.1858C>T	3.37:g.52778291G>A	ENSP00000233027:p.Arg620*					NEK4_uc011bej.1_Nonsense_Mutation_p.R531*|NEK4_uc003dfr.2_Nonsense_Mutation_p.R574*	p.R620*	NM_003157	NP_003148	P51957	NEK4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)	11	2047	-			620					A5YM70|B2R633|B7Z200|Q6P576	Nonsense_Mutation	SNP	ENST00000233027.5	37	c.1858C>T	CCDS2863.1	.	.	.	.	.	.	.	.	.	.	G	39	7.882923	0.98542	.	.	ENSG00000114904	ENST00000233027;ENST00000535191;ENST00000383721;ENST00000461689	.	.	.	6.17	4.24	0.50183	.	0.000000	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.6606	0.23012	0.0894:0.0:0.6592:0.2514	.	.	.	.	X	620;531;574;531	.	ENSP00000233027:R620X	R	-	1	2	NEK4	52753331	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	2.371000	0.44248	1.621000	0.50320	0.655000	0.94253	CGA		0.413	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352386.2	NM_003157	
ACOX2	8309	broad.mit.edu	37	3	58510285	58510285	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:58510285G>A	ENST00000302819.5	-	11	1685	c.1394C>T	c.(1393-1395)aCg>aTg	p.T465M	ACOX2_ENST00000481527.1_5'Flank|ACOX2_ENST00000459701.2_Missense_Mutation_p.T451M	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	465					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TCTCTGTGGCGTGGAGCCAGG	0.617																																						uc003dkl.2																			0					0						c.(1393-1395)ACG>ATG		acyl-Coenzyme A oxidase 2							88.0	79.0	82.0					3																	58510285		2203	4300	6503	SO:0001583	missense	8309				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity	g.chr3:58510285G>A	X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"""trihydroxycoprostanoyl-CoA oxidase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"""	601641	"""acyl-Coenzyme A oxidase 2, branched chain"""			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.1394C>T	3.37:g.58510285G>A	ENSP00000307697:p.Thr465Met						p.T465M	NM_003500	NP_003491	Q99424	ACOX2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)	11	1569	-			465					A6NF16|B2R8U5	Missense_Mutation	SNP	ENST00000302819.5	37	c.1394C>T	CCDS33775.1	.	.	.	.	.	.	.	.	.	.	G	9.495	1.101656	0.20632	.	.	ENSG00000168306	ENST00000459701;ENST00000302819	T;T	0.15139	2.46;2.45	4.85	2.97	0.34412	Acyl-CoA dehydrogenase/oxidase C-terminal (1);	1.283950	0.05299	N	0.522624	T	0.09158	0.0226	N	0.08118	0	0.09310	N	1	P	0.42296	0.775	B	0.36666	0.23	T	0.24012	-1.0172	10	0.37606	T	0.19	-44.5598	6.526	0.22301	0.0957:0.0:0.7274:0.1769	.	465	Q99424	ACOX2_HUMAN	M	451;465	ENSP00000418562:T451M;ENSP00000307697:T465M	ENSP00000307697:T465M	T	-	2	0	ACOX2	58485325	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.264000	0.18497	0.519000	0.28406	0.484000	0.47621	ACG		0.617	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353541.1		
C3orf67	200844	broad.mit.edu	37	3	58853638	58853638	+	Missense_Mutation	SNP	G	G	A	rs141916956	byFrequency	TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:58853638G>A	ENST00000482387.1	-	6	761	c.665C>T	c.(664-666)cCg>cTg	p.P222L	RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|C3orf67_ENST00000295966.7_Missense_Mutation_p.P222L|RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000463703.1_RNA|C3orf67_ENST00000472469.1_Intron			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	222								p.P222L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		AGGGGGATGCGGATGCATAAT	0.388																																						uc003dkt.1																			1	Substitution - Missense(1)		large_intestine(1)		0						c.(664-666)CCG>CTG		hypothetical protein LOC200844		G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	160.0	152.0	155.0		665	5.6	1.0	3	dbSNP_134	155	0,8600	1.2+/-3.3	0,0,4300	yes	missense	C3orf67	NM_198463.2	98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	222/564	58853638	1,13005	2203	4300	6503	SO:0001583	missense	200844							g.chr3:58853638G>A	AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.665C>T	3.37:g.58853638G>A	ENSP00000417122:p.Pro222Leu					C3orf67_uc003dks.1_Missense_Mutation_p.P37L|uc003dku.1_Intron|C3orf67_uc003dkv.1_Missense_Mutation_p.P37L|C3orf67_uc003dkw.2_Intron	p.P222L	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)	10	1074	-		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)	222					B9EKV6|Q6ZV69	Missense_Mutation	SNP	ENST00000482387.1	37	c.665C>T		.	.	.	.	.	.	.	.	.	.	G	14.92	2.680473	0.47886	2.27E-4	0.0	ENSG00000163689	ENST00000295966;ENST00000482387	T;T	0.61274	0.12;0.12	5.57	5.57	0.84162	.	0.060788	0.64402	D	0.000003	T	0.59183	0.2175	M	0.71036	2.16	0.80722	D	1	D;D	0.55605	0.972;0.972	P;B	0.44447	0.45;0.286	T	0.66184	-0.5987	10	0.87932	D	0	-15.0891	11.5143	0.50511	0.0892:0.0:0.9108:0.0	.	222;222	Q6ZVT6-2;Q6ZVT6	.;CC067_HUMAN	L	222	ENSP00000295966:P222L;ENSP00000417122:P222L	ENSP00000295966:P222L	P	-	2	0	C3orf67	58828678	1.000000	0.71417	1.000000	0.80357	0.175000	0.22909	2.838000	0.48199	2.612000	0.88384	0.655000	0.94253	CCG		0.388	C3orf67-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000353803.1	NM_198463	
ZXDC	79364	broad.mit.edu	37	3	126160628	126160628	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:126160628C>G	ENST00000389709.3	-	8	2427	c.2374G>C	c.(2374-2376)Gtc>Ctc	p.V792L		NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	792	Interaction with CIITA.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		TGGACCTGGACGCCCTGCGCC	0.677																																						uc003eiv.2																			0				ovary(1)	1						c.(2374-2376)GTC>CTC		ZXD family zinc finger C isoform 1							31.0	37.0	35.0					3																	126160628		2106	4213	6319	SO:0001583	missense	79364				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:126160628C>G	AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"""Zinc fingers, C2H2-type"""	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.2374G>C	3.37:g.126160628C>G	ENSP00000374359:p.Val792Leu					ZXDC_uc010hsh.2_RNA	p.V792L	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	8	2428	-			792			Interaction with CIITA.		C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Missense_Mutation	SNP	ENST00000389709.3	37	c.2374G>C	CCDS43145.1	.	.	.	.	.	.	.	.	.	.	C	5.257	0.232929	0.09969	.	.	ENSG00000070476	ENST00000389709	T	0.18810	2.19	0.427	-0.854	0.10705	.	0.136701	0.48767	D	0.000175	T	0.14743	0.0356	L	0.54323	1.7	0.09310	N	1	B	0.29936	0.262	B	0.23419	0.046	T	0.12863	-1.0531	9	0.72032	D	0.01	-3.8613	.	.	.	.	792	Q2QGD7	ZXDC_HUMAN	L	792	ENSP00000374359:V792L	ENSP00000374359:V792L	V	-	1	0	ZXDC	127643318	0.721000	0.28007	0.007000	0.13788	0.002000	0.02628	-0.448000	0.06820	-0.657000	0.05373	-0.670000	0.03821	GTC		0.677	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2	NM_025112	
TRIM42	287015	broad.mit.edu	37	3	140397352	140397352	+	Missense_Mutation	SNP	G	G	A	rs201174770		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:140397352G>A	ENST00000286349.3	+	1	472	c.281G>A	c.(280-282)cGc>cAc	p.R94H		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	94	Cys-rich.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TATGAGAGCCGCTGCTGCCGC	0.557																																						uc003eto.1																			0				lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						c.(280-282)CGC>CAC		tripartite motif-containing 42		G	HIS/ARG	1,4397		0,1,2198	47.0	43.0	45.0		281	3.3	1.0	3		45	0,8566		0,0,4283	no	missense	TRIM42	NM_152616.4	29	0,1,6481	AA,AG,GG		0.0,0.0227,0.0077	benign	94/724	140397352	1,12963	2199	4283	6482	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140397352G>A	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.281G>A	3.37:g.140397352G>A	ENSP00000286349:p.Arg94His						p.R94H	NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN			1	472	+			94			Cys-rich.		A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.281G>A	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.887234	0.33348	2.27E-4	0.0	ENSG00000155890	ENST00000286349	T	0.18657	2.2	5.15	3.34	0.38264	.	0.352176	0.21995	N	0.066088	T	0.10078	0.0247	N	0.08118	0	0.26995	N	0.965053	B	0.13594	0.008	B	0.08055	0.003	T	0.22068	-1.0227	10	0.34782	T	0.22	-40.4193	8.5861	0.33660	0.182:0.0:0.818:0.0	.	94	Q8IWZ5	TRI42_HUMAN	H	94	ENSP00000286349:R94H	ENSP00000286349:R94H	R	+	2	0	TRIM42	141880042	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	1.215000	0.32431	0.662000	0.31006	-0.136000	0.14681	CGC		0.557	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616	
CP	1356	broad.mit.edu	37	3	148901264	148901264	+	Missense_Mutation	SNP	A	A	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:148901264A>T	ENST00000264613.6	-	13	2676	c.2414T>A	c.(2413-2415)cTg>cAg	p.L805Q	CP_ENST00000462336.1_5'Flank	NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	805	F5/8 type A 3.|Plastocyanin-like 5.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TAGAATTCCCAGATGTTCTTC	0.398																																						uc003ewy.3																			0				ovary(1)	1						c.(2413-2415)CTG>CAG		ceruloplasmin precursor	Drotrecogin alfa(DB00055)						135.0	120.0	125.0					3																	148901264		2203	4300	6503	SO:0001583	missense	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148901264A>T	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.2414T>A	3.37:g.148901264A>T	ENSP00000264613:p.Leu805Gln					CP_uc011bnr.1_RNA|CP_uc003ewx.3_Missense_Mutation_p.L586Q|CP_uc003ewz.2_Missense_Mutation_p.L805Q	p.L805Q	NM_000096	NP_000087	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		13	2667	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	805			Plastocyanin-like 5.|F5/8 type A 3.		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	c.2414T>A	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.352806	0.82132	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	D;D	0.99098	-5.42;-5.42	5.39	5.39	0.77823	Cupredoxin (2);	0.070970	0.56097	D	0.000027	D	0.99354	0.9773	M	0.89478	3.035	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98871	1.0766	10	0.87932	D	0	-9.4362	15.4263	0.75055	1.0:0.0:0.0:0.0	.	805;805;805	A8K5A4;P00450;Q1L857	.;CERU_HUMAN;.	Q	805;588	ENSP00000264613:L805Q;ENSP00000420545:L588Q	ENSP00000264613:L805Q	L	-	2	0	CP	150383954	1.000000	0.71417	0.931000	0.37212	0.824000	0.46624	8.781000	0.91805	2.041000	0.60428	0.454000	0.30748	CTG		0.398	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096	
PIK3CA	5290	broad.mit.edu	37	3	178952072	178952072	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:178952072A>G	ENST00000263967.3	+	21	3284	c.3127A>G	c.(3127-3129)Atg>Gtg	p.M1043V	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1043	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		M -> I (in MCAP and CRC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|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)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.M1043V(22)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CATGAAACAAATGAATGATGC	0.368		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		22	Substitution - Missense(22)	p.M1043I(31)|p.M1043V(15)|p.M1043T(3)	endometrium(9)|breast(6)|upper_aerodigestive_tract(3)|large_intestine(1)|central_nervous_system(1)|lung(1)|ovary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(3127-3129)ATG>GTG		phosphoinositide-3-kinase, catalytic, alpha							97.0	87.0	91.0					3																	178952072		1905	4126	6031	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952072A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3127A>G	3.37:g.178952072A>G	ENSP00000263967:p.Met1043Val	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.M1043V	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3284	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1043		M -> I (in cancer; shows an increase in lipid kinase activity).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3127A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.199517	0.38806	.	.	ENSG00000121879	ENST00000263967	T	0.79653	-1.29	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.64011	0.2560	N	0.02830	-0.485	0.80722	D	1	B	0.22146	0.065	B	0.19666	0.026	T	0.64080	-0.6491	10	0.72032	D	0.01	-20.5202	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1043	P42336	PK3CA_HUMAN	V	1043	ENSP00000263967:M1043V	ENSP00000263967:M1043V	M	+	1	0	PIK3CA	180434766	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	ATG		0.368	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
DRD5	1816	broad.mit.edu	37	4	9784905	9784905	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr4:9784905G>A	ENST00000304374.2	+	1	1648	c.1252G>A	c.(1252-1254)Gtt>Att	p.V418I		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	418					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.V418I(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GCCCAACGCCGTTACCCCCGG	0.557																																						uc003gmb.3																			1	Substitution - Missense(1)		endometrium(1)	skin(1)	1						c.(1252-1254)GTT>ATT		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						91.0	77.0	82.0					4																	9784905		2203	4300	6503	SO:0001583	missense	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784905G>A	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.1252G>A	4.37:g.9784905G>A	ENSP00000306129:p.Val418Ile						p.V418I	NM_000798	NP_000789	P21918	DRD5_HUMAN			1	1648	+			418			Cytoplasmic (Potential).		B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.1252G>A	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	g	7.016	0.557752	0.13436	.	.	ENSG00000169676	ENST00000304374	T	0.66995	-0.24	4.84	4.0	0.46444	.	0.543855	0.17367	N	0.176828	T	0.53110	0.1776	L	0.37630	1.12	0.43724	D	0.996208	B	0.28820	0.224	B	0.18561	0.022	T	0.47661	-0.9100	10	0.25751	T	0.34	.	12.3536	0.55163	0.0808:0.0:0.9192:0.0	.	418	P21918	DRD5_HUMAN	I	418	ENSP00000306129:V418I	ENSP00000306129:V418I	V	+	1	0	DRD5	9394003	1.000000	0.71417	0.015000	0.15790	0.006000	0.05464	6.188000	0.72045	1.274000	0.44362	0.460000	0.39030	GTT		0.557	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1		
KLB	152831	broad.mit.edu	37	4	39408665	39408665	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr4:39408665C>A	ENST00000257408.4	+	1	193	c.96C>A	c.(94-96)aaC>aaA	p.N32K		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	32					carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						CAATGTCCAACGGGGGATTGC	0.453																																						uc003gua.2																			0				skin(1)	1						c.(94-96)AAC>AAA		klotho beta							95.0	90.0	92.0					4																	39408665		2203	4300	6503	SO:0001583	missense	152831				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr4:39408665C>A	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.96C>A	4.37:g.39408665C>A	ENSP00000257408:p.Asn32Lys					KLB_uc011byj.1_Missense_Mutation_p.N32K	p.N32K	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN			1	193	+			32			Extracellular (Potential).		Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	37	c.96C>A	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	C	8.882	0.951992	0.18431	.	.	ENSG00000134962	ENST00000257408	T	0.26373	1.74	4.55	3.68	0.42216	.	1.527920	0.03436	N	0.208556	T	0.15955	0.0384	N	0.19112	0.55	0.09310	N	1	B;B	0.20887	0.049;0.049	B;B	0.15052	0.012;0.012	T	0.28364	-1.0046	10	0.06099	T	0.92	-5.3019	6.6457	0.22934	0.3206:0.5962:0.0:0.0832	.	32;32	B7ZL50;Q86Z14	.;KLOTB_HUMAN	K	32	ENSP00000257408:N32K	ENSP00000257408:N32K	N	+	3	2	KLB	39085060	0.004000	0.15560	0.009000	0.14445	0.960000	0.62799	1.475000	0.35409	0.983000	0.38602	0.467000	0.42956	AAC		0.453	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737	
FRAS1	80144	broad.mit.edu	37	4	79173649	79173649	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr4:79173649A>G	ENST00000325942.6	+	5	853	c.413A>G	c.(412-414)cAg>cGg	p.Q138R	FRAS1_ENST00000264895.6_Missense_Mutation_p.Q138R|FRAS1_ENST00000264899.6_Missense_Mutation_p.Q138R	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	138	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGTGGACACCAGGAGCTGGCA	0.562																																						uc003hlb.2																			0				large_intestine(5)	5						c.(412-414)CAG>CGG		Fraser syndrome 1							81.0	83.0	82.0					4																	79173649		1957	4145	6102	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79173649A>G	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.413A>G	4.37:g.79173649A>G	ENSP00000326330:p.Gln138Arg					FRAS1_uc003hkw.2_Missense_Mutation_p.Q138R|FRAS1_uc003hky.1_5'UTR|FRAS1_uc003hkz.2_5'Flank	p.Q138R	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			5	853	+			138			VWFC 2.|Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.413A>G	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.39|10.39	1.336785|1.336785	0.24253|0.24253	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000264899;ENST00000380674|ENST00000502446	T;T;T|.	0.72505|.	-0.66;-0.66;-0.66|.	5.5|5.5	0.471|0.471	0.16752|0.16752	.|.	0.758999|.	0.12548|.	N|.	0.459354|.	T|T	0.40719|0.40719	0.1128|0.1128	L|L	0.52126|0.52126	1.63|1.63	0.09310|0.09310	N|N	1|1	B;B|.	0.10296|.	0.002;0.003|.	B;B|.	0.15052|.	0.008;0.012|.	T|T	0.33599|0.33599	-0.9862|-0.9862	10|5	0.23891|.	T|.	0.37|.	.|.	8.859|8.859	0.35245|0.35245	0.5573:0.0:0.4427:0.0|0.5573:0.0:0.4427:0.0	.|.	138;138|.	E9PHH6;A2RRR8|.	.;.|.	R|G	138|67	ENSP00000326330:Q138R;ENSP00000264895:Q138R;ENSP00000264899:Q138R|.	ENSP00000264895:Q138R|.	Q|R	+|+	2|1	0|2	FRAS1|FRAS1	79392673|79392673	0.021000|0.021000	0.18746|0.18746	0.685000|0.685000	0.30070|0.30070	0.539000|0.539000	0.34962|0.34962	0.701000|0.701000	0.25616|0.25616	0.136000|0.136000	0.18733|0.18733	0.528000|0.528000	0.53228|0.53228	CAG|AGG		0.562	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2		
CENPE	1062	broad.mit.edu	37	4	104117134	104117134	+	Silent	SNP	T	T	C			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr4:104117134T>C	ENST00000265148.3	-	4	389	c.300A>G	c.(298-300)gaA>gaG	p.E100E	CENPE_ENST00000380026.3_Silent_p.E100E	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	100	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CCAAATGATCTTCTGAACCCA	0.348																																						uc003hxb.1																			0				ovary(5)|breast(4)	9						c.(298-300)GAA>GAG		centromere protein E							113.0	106.0	108.0					4																	104117134		2203	4300	6503	SO:0001819	synonymous_variant	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104117134T>C	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.300A>G	4.37:g.104117134T>C						CENPE_uc003hxc.1_Silent_p.E100E	p.E100E	NM_001813	NP_001804	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	4	390	-			100			Kinesin-motor.		A6NKY9|A8K2U7|Q4LE75	Silent	SNP	ENST00000265148.3	37	c.300A>G	CCDS34042.1																																																																																				0.348	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
PRSS12	8492	broad.mit.edu	37	4	119239641	119239641	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr4:119239641G>A	ENST00000296498.3	-	5	1324	c.1042C>T	c.(1042-1044)Cgc>Tgc	p.R348C		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	348	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						CCAGTGCAGCGTACTTCATCC	0.478																																						uc003ica.1																			0				skin(1)	1						c.(1042-1044)CGC>TGC		neurotrypsin precursor							104.0	98.0	100.0					4																	119239641		2203	4300	6503	SO:0001583	missense	8492					membrane	scavenger receptor activity	g.chr4:119239641G>A	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.1042C>T	4.37:g.119239641G>A	ENSP00000296498:p.Arg348Cys						p.R348C	NM_003619	NP_003610	P56730	NETR_HUMAN			5	1089	-			348			SRCR 2.		Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	37	c.1042C>T	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.866107	0.71949	.	.	ENSG00000164099	ENST00000296498	T	0.44881	0.91	5.86	5.01	0.66863	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.372411	0.28262	N	0.015998	T	0.70369	0.3216	M	0.92604	3.325	0.23416	N	0.99772	D	0.76494	0.999	D	0.63033	0.91	T	0.69694	-0.5076	10	0.49607	T	0.09	.	16.3212	0.82951	0.0:0.0:0.8666:0.1334	.	348	P56730	NETR_HUMAN	C	348	ENSP00000296498:R348C	ENSP00000296498:R348C	R	-	1	0	PRSS12	119459089	0.996000	0.38824	0.196000	0.23383	0.955000	0.61496	7.502000	0.81614	1.460000	0.47911	0.591000	0.81541	CGC		0.478	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2		
TLL1	7092	broad.mit.edu	37	4	166910622	166910622	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr4:166910622G>A	ENST00000061240.2	+	2	906	c.259G>A	c.(259-261)Gga>Aga	p.G87R	TLL1_ENST00000513213.1_Missense_Mutation_p.G87R|TLL1_ENST00000507499.1_Missense_Mutation_p.G87R	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	87					cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GAACCCCTTTGGAAACCTTGG	0.333																																						uc003irh.1																			0				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(259-261)GGA>AGA		tolloid-like 1 precursor							111.0	116.0	114.0					4																	166910622		2203	4300	6503	SO:0001583	missense	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166910622G>A	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.259G>A	4.37:g.166910622G>A	ENSP00000061240:p.Gly87Arg					TLL1_uc011cjn.1_Missense_Mutation_p.G87R|TLL1_uc011cjo.1_5'UTR	p.G87R	NM_012464	NP_036596	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	2	906	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	87					B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	c.259G>A	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.015557	0.54468	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213	T;T;T	0.57107	0.56;0.48;0.42	5.36	5.36	0.76844	.	0.390743	0.26010	U	0.026885	T	0.40171	0.1106	N	0.25647	0.755	0.40468	D	0.980318	B;B	0.34103	0.437;0.181	B;B	0.30572	0.117;0.05	T	0.26985	-1.0087	10	0.14656	T	0.56	.	19.0659	0.93110	0.0:0.0:1.0:0.0	.	87;87	E9PD25;O43897	.;TLL1_HUMAN	R	87	ENSP00000061240:G87R;ENSP00000426082:G87R;ENSP00000422937:G87R	ENSP00000061240:G87R	G	+	1	0	TLL1	167130072	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.791000	0.69045	2.518000	0.84900	0.655000	0.94253	GGA		0.333	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1		
ENPP6	133121	broad.mit.edu	37	4	185018423	185018423	+	Silent	SNP	C	C	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr4:185018423C>G	ENST00000296741.2	-	7	1233	c.1092G>C	c.(1090-1092)cgG>cgC	p.R364R		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	364					choline metabolic process (GO:0019695)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glycerophosphocholine cholinephosphodiesterase activity (GO:0047390)|glycerophosphodiester phosphodiesterase activity (GO:0008889)|phosphoric diester hydrolase activity (GO:0008081)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		GGAAGATGCCCCGCATGTCCA	0.587																																						uc003iwc.2																			0				central_nervous_system(1)	1						c.(1090-1092)CGG>CGC		ectonucleotide pyrophosphatase/phosphodiesterase							118.0	99.0	105.0					4																	185018423		2203	4300	6503	SO:0001819	synonymous_variant	133121				lipid catabolic process	extracellular region|integral to membrane|plasma membrane		g.chr4:185018423C>G	AK057370	CCDS3834.1	4q35.1	2008-02-05			ENSG00000164303	ENSG00000164303			23409	protein-coding gene	gene with protein product							Standard	NM_153343		Approved	MGC33971	uc003iwc.3	Q6UWR7	OTTHUMG00000160617	ENST00000296741.2:c.1092G>C	4.37:g.185018423C>G							p.R364R	NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)	7	1234	-		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	364			Extracellular (Potential).		Q4W5Q1|Q96M57	Silent	SNP	ENST00000296741.2	37	c.1092G>C	CCDS3834.1																																																																																				0.587	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361428.1	NM_153343	
PRDM9	56979	broad.mit.edu	37	5	23527861	23527861	+	Silent	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr5:23527861C>T	ENST00000296682.3	+	11	2846	c.2664C>T	c.(2662-2664)taC>taT	p.Y888Y		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	888					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAAGCCCTACGTCTGCAGGG	0.527										HNSCC(3;0.000094)																												uc003jgo.2																			0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(2662-2664)TAC>TAT		PR domain containing 9							57.0	65.0	62.0					5																	23527861		2173	4292	6465	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527861C>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2664C>T	5.37:g.23527861C>T		HNSCC(3;0.000094)					p.Y888Y	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	2846	+			888					B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.2664C>T	CCDS43307.1																																																																																				0.527	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227	
FAM170A	340069	broad.mit.edu	37	5	118970068	118970068	+	Missense_Mutation	SNP	G	G	A	rs369994686		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr5:118970068G>A	ENST00000515256.1	+	3	797	c.625G>A	c.(625-627)Gtt>Att	p.V209I				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	209					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						CTCACCCACCGTTGAGGACAC	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		20392	0.001		0.0	False		,,,				2504	0.0					uc003ksm.2																			0				skin(1)	1						c.(625-627)GTT>ATT		family with sequence similarity 170, member A		G	ILE/VAL,ILE/VAL	1,4209		0,1,2104	91.0	99.0	96.0		625,484	1.5	0.0	5		96	0,8466		0,0,4233	no	missense,missense	FAM170A	NM_182761.3,NM_001163991.1	29,29	0,1,6337	AA,AG,GG		0.0,0.0238,0.0079	benign,benign	209/330,162/283	118970068	1,12675	2105	4233	6338	SO:0001583	missense	340069					intracellular	zinc ion binding	g.chr5:118970068G>A	AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334			27963	protein-coding gene	gene with protein product						12477932	Standard	NM_182761		Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.625G>A	5.37:g.118970068G>A	ENSP00000422684:p.Val209Ile					FAM170A_uc003ksl.2_Intron|FAM170A_uc003ksn.2_Missense_Mutation_p.V209I|FAM170A_uc003kso.2_Missense_Mutation_p.V162I	p.V209I	NM_182761	NP_877438	A1A519	F170A_HUMAN			3	835	+			209					Q66LM8|Q7Z4V2|Q8IW94	Missense_Mutation	SNP	ENST00000515256.1	37	c.625G>A		.	.	.	.	.	.	.	.	.	.	G	1.494	-0.553828	0.03996	2.38E-4	0.0	ENSG00000164334	ENST00000296787;ENST00000515256	T	0.35789	1.29	4.35	1.49	0.22878	.	0.963086	0.08539	N	0.930926	T	0.34513	0.0900	M	0.64997	1.995	0.09310	N	1	B;B	0.25007	0.086;0.116	B;B	0.15484	0.008;0.013	T	0.25710	-1.0124	9	.	.	.	-3.1073	10.1819	0.42972	0.0:0.0:0.4686:0.5314	.	162;209	D6RIE9;A1A519	.;F170A_HUMAN	I	162;209	ENSP00000422684:V209I	.	V	+	1	0	FAM170A	118997967	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.414000	0.21164	0.320000	0.23234	-0.181000	0.13052	GTT		0.587	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371126.1	NM_182761	
PCDHA7	56141	broad.mit.edu	37	5	140215694	140215694	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr5:140215694G>A	ENST00000525929.1	+	1	1726	c.1726G>A	c.(1726-1728)Gca>Aca	p.A576T	PCDHA7_ENST00000378125.3_Missense_Mutation_p.A576T|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	576					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTGGTGGCGCAGTGAGAGA	0.662																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2																			0				ovary(2)|skin(2)	4						c.(1726-1728)GCA>ACA		protocadherin alpha 7 isoform 1 precursor							95.0	97.0	96.0					5																	140215694		2203	4300	6503	SO:0001583	missense	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140215694G>A	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1726G>A	5.37:g.140215694G>A	ENSP00000436426:p.Ala576Thr					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_uc011dac.1_Missense_Mutation_p.A576T	p.A576T	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1726	+			576			Extracellular (Potential).		O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.1726G>A	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	G	1.242	-0.620930	0.03636	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.37235	1.21;1.21	4.2	-4.94	0.03057	Cadherin-like (1);	0.839395	0.09050	U	0.855921	T	0.11067	0.0270	N	0.03608	-0.345	0.09310	N	1	B;B	0.21452	0.056;0.043	B;B	0.15870	0.014;0.009	T	0.26573	-1.0099	10	0.17832	T	0.49	.	2.885	0.05659	0.1511:0.3407:0.3221:0.186	.	576;576	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	T	576	ENSP00000436426:A576T;ENSP00000367365:A576T	ENSP00000367365:A576T	A	+	1	0	PCDHA7	140195878	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-0.168000	0.09925	-0.652000	0.05408	0.462000	0.41574	GCA		0.662	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910	
PCDHA8	56140	broad.mit.edu	37	5	140221979	140221979	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr5:140221979C>G	ENST00000531613.1	+	1	1073	c.1073C>G	c.(1072-1074)cCt>cGt	p.P358R	PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P358R|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	358	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTATCCTTGCCTGTACGTGAA	0.502																																						uc003lhs.2																			0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1072-1074)CCT>CGT		protocadherin alpha 8 isoform 1 precursor							98.0	90.0	93.0					5																	140221979		2202	4279	6481	SO:0001583	missense	56140				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140221979C>G	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1073C>G	5.37:g.140221979C>G	ENSP00000434655:p.Pro358Arg					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_uc003lhr.1_Missense_Mutation_p.P358R	p.P358R	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1073	+			358			Cadherin 4.|Extracellular (Potential).		B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1073C>G	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320546	0.60634	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.01685	4.69;4.69	3.57	3.57	0.40892	Cadherin (3);Cadherin-like (1);	0.000000	0.36591	U	0.002507	T	0.07143	0.0181	L	0.48935	1.535	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	T	0.03717	-1.1010	10	0.87932	D	0	.	15.5787	0.76414	0.0:1.0:0.0:0.0	.	358;358	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	R	358	ENSP00000434655:P358R;ENSP00000367363:P358R	ENSP00000367363:P358R	P	+	2	0	PCDHA8	140202163	0.000000	0.05858	0.013000	0.15412	0.713000	0.41058	0.633000	0.24598	1.709000	0.51313	0.306000	0.20318	CCT		0.502	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911	
PCDHGA2	56113	broad.mit.edu	37	5	140720522	140720522	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr5:140720522G>A	ENST00000394576.2	+	1	1984	c.1984G>A	c.(1984-1986)Gtg>Atg	p.V662M	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	662	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGCTCACCGTGGCCGTGGC	0.682																																						uc003ljk.1																			0				skin(2)|ovary(1)	3						c.(1984-1986)GTG>ATG		protocadherin gamma subfamily A, 2 isoform 1							32.0	40.0	37.0					5																	140720522		2198	4277	6475	SO:0001583	missense	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140720522G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1984G>A	5.37:g.140720522G>A	ENSP00000378077:p.Val662Met					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.V662M	p.V662M	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2169	+			662			Extracellular (Potential).|Cadherin 6.		Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.1984G>A	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	10.29	1.308036	0.23821	.	.	ENSG00000081853	ENST00000394576	T	0.69685	-0.42	5.14	3.24	0.37175	Cadherin (4);Cadherin-like (1);	0.233417	0.22147	U	0.063976	T	0.80742	0.4681	M	0.93150	3.385	0.21105	N	0.999789	D;D	0.65815	0.975;0.995	P;P	0.59948	0.693;0.866	T	0.72027	-0.4414	10	0.66056	D	0.02	.	4.926	0.13894	0.2063:0.1721:0.6216:0.0	.	662;662	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	M	662	ENSP00000378077:V662M	ENSP00000378077:V662M	V	+	1	0	PCDHGA2	140700706	0.001000	0.12720	0.175000	0.22980	0.002000	0.02628	-0.103000	0.10940	0.591000	0.29711	-0.350000	0.07774	GTG		0.682	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915	
PCDHGA2	56113	broad.mit.edu	37	5	140720558	140720558	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr5:140720558G>A	ENST00000394576.2	+	1	2020	c.2020G>A	c.(2020-2022)Gac>Aac	p.D674N	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	674	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCTGGCCGACCTGGGCAG	0.687																																						uc003ljk.1																			0				skin(2)|ovary(1)	3						c.(2020-2022)GAC>AAC		protocadherin gamma subfamily A, 2 isoform 1							58.0	66.0	63.0					5																	140720558		2203	4298	6501	SO:0001583	missense	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140720558G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.2020G>A	5.37:g.140720558G>A	ENSP00000378077:p.Asp674Asn					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.D674N	p.D674N	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2205	+			674			Extracellular (Potential).|Cadherin 6.		Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.2020G>A	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	12.81	2.050714	0.36181	.	.	ENSG00000081853	ENST00000394576	T	0.49432	0.78	5.05	5.05	0.67936	Cadherin (1);	0.000000	0.43110	U	0.000607	T	0.48259	0.1490	M	0.72479	2.2	0.29751	N	0.836344	P;P	0.46277	0.467;0.875	B;B	0.39738	0.233;0.308	T	0.61033	-0.7144	10	0.87932	D	0	.	14.1042	0.65078	0.0:0.1507:0.8492:0.0	.	674;674	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	N	674	ENSP00000378077:D674N	ENSP00000378077:D674N	D	+	1	0	PCDHGA2	140700742	1.000000	0.71417	0.923000	0.36655	0.222000	0.24845	5.029000	0.64121	2.532000	0.85374	0.485000	0.47835	GAC		0.687	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915	
TBC1D9B	23061	broad.mit.edu	37	5	179318430	179318430	+	Silent	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr5:179318430G>A	ENST00000356834.3	-	6	1030	c.993C>T	c.(991-993)tgC>tgT	p.C331C	TBC1D9B_ENST00000355235.3_Silent_p.C331C	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	331	GRAM 2.					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)			TGCTGGCGAAGCAGATGTAGT	0.592																																						uc003mlh.2																			0				breast(1)|skin(1)	2						c.(991-993)TGC>TGT		TBC1 domain family, member 9B (with GRAM domain)							132.0	124.0	127.0					5																	179318430		2203	4300	6503	SO:0001819	synonymous_variant	23061					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	g.chr5:179318430G>A	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.993C>T	5.37:g.179318430G>A						TBC1D9B_uc003mli.2_Silent_p.C331C|TBC1D9B_uc003mlj.2_Silent_p.C331C	p.C331C	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	1030	-	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)	331			GRAM 2.		D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Silent	SNP	ENST00000356834.3	37	c.993C>T	CCDS43408.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.259888	0.23051	.	.	ENSG00000197226	ENST00000524222	.	.	.	5.09	3.32	0.38043	.	.	.	.	.	T	0.59321	0.2185	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54483	-0.8287	4	.	.	.	-30.7759	9.6842	0.40089	0.2815:0.0:0.7185:0.0	.	.	.	.	V	61	.	.	A	-	2	0	TBC1D9B	179251036	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.063000	0.49978	0.744000	0.32741	0.655000	0.94253	GCT		0.592	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043	
DSP	1832	broad.mit.edu	37	6	7582878	7582878	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr6:7582878T>C	ENST00000379802.3	+	24	5724	c.5383T>C	c.(5383-5385)Tct>Cct	p.S1795P	DSP_ENST00000418664.2_Missense_Mutation_p.S1196P	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1795	Central fibrous rod domain.				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)		ATTCCAGGCATCTAATAGGAT	0.353																																						uc003mxp.1																			0				central_nervous_system(6)|ovary(2)|skin(1)	9						c.(5383-5385)TCT>CCT		desmoplakin isoform I							73.0	79.0	77.0					6																	7582878		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.chr6:7582878T>C	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.5383T>C	6.37:g.7582878T>C	ENSP00000369129:p.Ser1795Pro					DSP_uc003mxq.1_Missense_Mutation_p.S1196P	p.S1795P	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	5662	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1795			Central fibrous rod domain.|Potential.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.5383T>C	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.954250	0.73902	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.64803	-0.12;-0.12	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000020	T	0.63792	0.2541	L	0.46157	1.445	0.25563	N	0.98698	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.60332	-0.7284	10	0.40728	T	0.16	.	15.3636	0.74503	0.0:0.0:0.0:1.0	.	1243;1795	Q4LE79;P15924	.;DESP_HUMAN	P	1795;1196	ENSP00000369129:S1795P;ENSP00000396591:S1196P	ENSP00000369129:S1795P	S	+	1	0	DSP	7527877	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.864000	0.69575	2.026000	0.59711	0.533000	0.62120	TCT		0.353	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415	
PHACTR1	221692	broad.mit.edu	37	6	13278556	13278556	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr6:13278556C>G	ENST00000379335.3	+	2	301	c.196C>G	c.(196-198)Cga>Gga	p.R66G	RP1-257A7.4_ENST00000399446.2_RNA|PHACTR1_ENST00000332995.7_Missense_Mutation_p.R502G|RP1-257A7.4_ENST00000606150.1_RNA|PHACTR1_ENST00000457702.2_Missense_Mutation_p.R357G|PHACTR1_ENST00000379329.1_Missense_Mutation_p.R66G			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	502					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GAGGCTAACCCGAAAGGTAGG	0.507																																						uc010jpc.2																			0					0						c.(1504-1506)CGA>GGA		phosphatase and actin regulator 1							43.0	51.0	48.0					6																	13278556		2002	4165	6167	SO:0001583	missense	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13278556C>G	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379335.3:c.196C>G	6.37:g.13278556C>G	ENSP00000368639:p.Arg66Gly					PHACTR1_uc003nah.1_Missense_Mutation_p.R502G|TBC1D7_uc003naj.2_Intron|TBC1D7_uc011dis.1_Intron	p.R502G	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		12	1836	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	502			RPEL 4.		A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379335.3	37	c.1504C>G		.	.	.	.	.	.	.	.	.	.	C	19.91	3.913830	0.72983	.	.	ENSG00000112137	ENST00000332995;ENST00000457702;ENST00000379335;ENST00000379329	T;T	0.38401	1.14;1.16	4.94	4.94	0.65067	.	0.054449	0.64402	D	0.000001	T	0.57577	0.2063	M	0.85197	2.74	0.80722	D	1	D	0.61697	0.99	D	0.66497	0.944	T	0.65903	-0.6055	10	0.87932	D	0	-7.2722	17.5133	0.87766	0.0:1.0:0.0:0.0	.	502	Q9C0D0	PHAR1_HUMAN	G	502;357;66;66	ENSP00000329880:R502G;ENSP00000397669:R357G	ENSP00000329880:R502G	R	+	1	2	PHACTR1	13386535	0.955000	0.32602	0.991000	0.47740	0.984000	0.73092	1.918000	0.40006	2.440000	0.82611	0.563000	0.77884	CGA		0.507	PHACTR1-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000039878.1	XM_166420	
DDX39B	7919	broad.mit.edu	37	6	31508154	31508154	+	Silent	SNP	G	G	C			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr6:31508154G>C	ENST00000396172.1	-	2	786	c.156C>G	c.(154-156)ctC>ctG	p.L52L	ATP6V1G2-DDX39B_ENST00000475917.1_5'Flank|DDX39B_ENST00000458640.1_Silent_p.L52L|DDX39B_ENST00000415382.2_Nonsense_Mutation_p.S48*|DDX39B_ENST00000376177.2_Silent_p.L52L|SNORD84_ENST00000584275.1_RNA|DDX39B_ENST00000453105.2_Nonsense_Mutation_p.S48*|DDX39B-AS1_ENST00000420520.1_RNA|DDX39B_ENST00000449074.2_Silent_p.L52L|DDX39B-AS1_ENST00000416684.1_RNA|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000417556.2_Silent_p.L52L	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	52					ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						ACTCTGGCTTGAGCAGGAAGT	0.547																																						uc003ntt.2																			0					0						c.(154-156)CTC>CTG		HLA-B associated transcript 1							70.0	70.0	70.0					6																	31508154		2203	4300	6503	SO:0001819	synonymous_variant	7919				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding	g.chr6:31508154G>C	Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"""DEAD-boxes"""	13917	protein-coding gene	gene with protein product	"""U2AF65-associated protein 56"""	142560	"""HLA-B associated transcript 1"""	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.156C>G	6.37:g.31508154G>C						BAT1_uc003nts.2_Silent_p.L52L|BAT1_uc011dnn.1_Nonsense_Mutation_p.S48*|BAT1_uc003ntu.2_Silent_p.L52L|BAT1_uc003ntv.2_Silent_p.L52L|BAT1_uc003ntw.2_Silent_p.L52L|BAT1_uc003ntx.2_Silent_p.L52L|BAT1_uc011dno.1_Nonsense_Mutation_p.S48*|BAT1_uc011dnp.1_Nonsense_Mutation_p.S48*|BAT1_uc011dnq.1_RNA	p.L52L	NM_004640	NP_004631	Q13838	DX39B_HUMAN			2	787	-			52			Q motif.		B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Silent	SNP	ENST00000396172.1	37	c.156C>G	CCDS4697.1	.	.	.	.	.	.	.	.	.	.	G	36	5.902038	0.97087	.	.	ENSG00000198563	ENST00000415382;ENST00000431908;ENST00000453105	.	.	.	5.53	2.27	0.28462	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-12.4402	6.5631	0.22497	0.1774:0.297:0.5256:0.0	.	.	.	.	X	48	.	ENSP00000392669:S48X	S	-	2	0	DDX39B	31616133	0.941000	0.31946	1.000000	0.80357	0.998000	0.95712	-0.154000	0.10130	0.661000	0.30985	0.563000	0.77884	TCA		0.547	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1	NM_004640	
SKIV2L	6499	broad.mit.edu	37	6	31933760	31933760	+	Silent	SNP	C	C	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr6:31933760C>A	ENST00000375394.2	+	18	2285	c.2172C>A	c.(2170-2172)ccC>ccA	p.P724P	SKIV2L_ENST00000544581.1_Silent_p.P531P	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	724	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GCCGAGTGCCCGAGATGGCAG	0.652																																						uc003nyn.1																			0				ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						c.(2170-2172)CCC>CCA		superkiller viralicidic activity 2-like homolog							26.0	22.0	23.0					6																	31933760		1509	2708	4217	SO:0001819	synonymous_variant	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31933760C>A		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.2172C>A	6.37:g.31933760C>A						SKIV2L_uc011dou.1_Silent_p.P566P|SKIV2L_uc011dov.1_Silent_p.P531P	p.P724P	NM_006929	NP_008860	Q15477	SKIV2_HUMAN			18	2561	+			724			Helicase C-terminal.		O15005|Q12902|Q15476|Q5ST66	Silent	SNP	ENST00000375394.2	37	c.2172C>A	CCDS4731.1																																																																																				0.652	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3		
FAXC	84553	broad.mit.edu	37	6	99729047	99729047	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr6:99729047C>A	ENST00000389677.5	-	6	1505	c.1223G>T	c.(1222-1224)tGc>tTc	p.C408F	FAXC_ENST00000461803.1_5'UTR|FAXC_ENST00000538471.1_Missense_Mutation_p.C128F	NM_032511.2	NP_115900.1	Q5TGI0	FAXC_HUMAN	failed axon connections homolog (Drosophila)	408						integral component of membrane (GO:0016021)											ACGTCACTTGCACTGTTCGTG	0.517																																						uc003ppj.3																			0				ovary(2)|central_nervous_system(1)	3						c.(1222-1224)TGC>TTC		hypothetical protein LOC84553							137.0	136.0	136.0					6																	99729047		2203	4300	6503	SO:0001583	missense	84553							g.chr6:99729047C>A	BC011583	CCDS34500.1	6q16.3	2012-02-07	2012-02-07	2012-02-07	ENSG00000146267	ENSG00000146267			20742	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 168"""	C6orf168		12477932	Standard	NM_032511		Approved	MGC2817, dJ273F20	uc003ppj.4	Q5TGI0	OTTHUMG00000015261	ENST00000389677.5:c.1223G>T	6.37:g.99729047C>A	ENSP00000374328:p.Cys408Phe					C6orf168_uc003ppi.3_Missense_Mutation_p.C128F	p.C408F	NM_032511	NP_115900	Q5TGI0	CF168_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.073)	6	1506	-		all_cancers(76;1.63e-06)|Acute lymphoblastic leukemia(125;5.12e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00898)|Colorectal(196;0.0699)|Lung NSC(302;0.198)	408					B3KU39|Q96F61|Q96LU3|Q9BR58|Q9BSS2	Missense_Mutation	SNP	ENST00000389677.5	37	c.1223G>T	CCDS34500.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.140373	0.56936	.	.	ENSG00000146267	ENST00000389677;ENST00000538471	.	.	.	5.33	5.33	0.75918	.	0.238980	0.43110	D	0.000617	T	0.38904	0.1058	N	0.24115	0.695	0.50467	D	0.999876	B	0.32160	0.358	B	0.36186	0.219	T	0.49790	-0.8902	9	0.87932	D	0	-19.051	19.0493	0.93036	0.0:1.0:0.0:0.0	.	408	Q5TGI0	CF168_HUMAN	F	408;128	.	ENSP00000374328:C408F	C	-	2	0	C6orf168	99835768	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	3.697000	0.54764	2.490000	0.84030	0.655000	0.94253	TGC		0.517	FAXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041589.4	NM_032511	
BCLAF1	9774	broad.mit.edu	37	6	136597032	136597032	+	Missense_Mutation	SNP	C	C	T	rs368236501		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr6:136597032C>T	ENST00000531224.1	-	5	1883	c.1631G>A	c.(1630-1632)cGt>cAt	p.R544H	BCLAF1_ENST00000392348.2_Missense_Mutation_p.R542H|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R371H|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R542H|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R542H|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R544H	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	544					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.R544H(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GACTTCAGGACGGTGAGAATC	0.433																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1630-1632)CGT>CAT		BCL2-associated transcription factor 1 isoform		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	202.0	198.0	199.0		1625,1112,1631	5.5	1.0	6		199	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	BCLAF1	NM_001077440.1,NM_001077441.1,NM_014739.2	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	542/870,371/748,544/921	136597032	1,13005	2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136597032C>T	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1631G>A	6.37:g.136597032C>T	ENSP00000435210:p.Arg544His					BCLAF1_uc003qgw.1_Missense_Mutation_p.R371H|BCLAF1_uc003qgy.1_Missense_Mutation_p.R542H|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.R542H	p.R544H	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	5	1884	-	Colorectal(23;0.24)		544					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.1631G>A	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.950944	0.34471	0.0	1.16E-4	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56;2.56;2.56	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000004	T	0.03263	0.0095	N	0.08118	0	0.80722	D	1	B;P;B;B	0.35481	0.364;0.504;0.364;0.414	B;B;B;B	0.26693	0.032;0.032;0.032;0.072	T	0.36040	-0.9764	10	0.62326	D	0.03	-6.6411	14.5891	0.68351	0.146:0.854:0.0:0.0	.	542;542;544;371	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	H	544;542;544;371;542;542;544	ENSP00000435210:R544H;ENSP00000229446:R542H;ENSP00000435441:R544H;ENSP00000436501:R371H;ENSP00000434826:R542H;ENSP00000376159:R542H;ENSP00000431734:R544H	ENSP00000229446:R542H	R	-	2	0	BCLAF1	136638725	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.070000	0.50033	2.747000	0.94245	0.460000	0.39030	CGT		0.433	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739	
SYNE1	23345	broad.mit.edu	37	6	152685991	152685991	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr6:152685991C>T	ENST00000367255.5	-	63	10737	c.10136G>A	c.(10135-10137)cGt>cAt	p.R3379H	SYNE1_ENST00000341594.5_Missense_Mutation_p.R3418H|SYNE1_ENST00000265368.4_Missense_Mutation_p.R3379H|SYNE1_ENST00000448038.1_Missense_Mutation_p.R3386H|SYNE1_ENST00000423061.1_Missense_Mutation_p.R3386H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3379					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTTTTACAACGAATCCCTGC	0.468										HNSCC(10;0.0054)																												uc010kiw.2																			0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(10135-10137)CGT>CAT		spectrin repeat containing, nuclear envelope 1							118.0	117.0	117.0					6																	152685991		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152685991C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.10136G>A	6.37:g.152685991C>T	ENSP00000356224:p.Arg3379His	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.R3386H|SYNE1_uc003qou.3_Missense_Mutation_p.R3379H|SYNE1_uc010kja.1_Missense_Mutation_p.R84H	p.R3379H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	63	10738	-		Ovarian(120;0.0955)	3379			Spectrin 7.|HAT 6.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.10136G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	13.71	2.319856	0.41096	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.53206	1.33;1.33;1.33;1.33;0.63	5.28	5.28	0.74379	.	0.113007	0.41396	D	0.000892	T	0.22166	0.0534	L	0.47716	1.5	0.80722	D	1	B;B;B;B	0.25850	0.084;0.084;0.084;0.136	B;B;B;B	0.15870	0.006;0.006;0.006;0.014	T	0.17137	-1.0379	10	0.44086	T	0.13	.	6.8796	0.24166	0.0:0.785:0.0:0.215	.	3379;3379;3379;3386	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	H	3379;3386;3379;3386;3418	ENSP00000356224:R3379H;ENSP00000396024:R3386H;ENSP00000265368:R3379H;ENSP00000390975:R3386H;ENSP00000341887:R3418H	ENSP00000265368:R3379H	R	-	2	0	SYNE1	152727684	1.000000	0.71417	0.804000	0.32291	0.973000	0.67179	3.774000	0.55341	2.466000	0.83321	0.655000	0.94253	CGT		0.468	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
INMT	11185	broad.mit.edu	37	7	30795056	30795056	+	Silent	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr7:30795056G>A	ENST00000013222.5	+	3	397	c.381G>A	c.(379-381)aaG>aaA	p.K127K	INMT_ENST00000484180.1_3'UTR|INMT-FAM188B_ENST00000458257.1_Intron|INMT_ENST00000409539.1_Silent_p.K126K	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	127					amine metabolic process (GO:0009308)|methylation (GO:0032259)|response to toxic substance (GO:0009636)	cytosol (GO:0005829)	amine N-methyltransferase activity (GO:0030748)|thioether S-methyltransferase activity (GO:0004790)			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						GGGAGGAGAAGGAGGAGAAGC	0.637																																						uc003tbs.1																			0					0						c.(379-381)AAG>AAA		indolethylamine N-methyltransferase							23.0	22.0	23.0					7																	30795056		2203	4300	6503	SO:0001819	synonymous_variant	11185					cytoplasm	amine N-methyltransferase activity	g.chr7:30795056G>A		CCDS5430.1, CCDS56479.1	7p14.3	2011-08-30			ENSG00000241644	ENSG00000241644	2.1.1.49		6069	protein-coding gene	gene with protein product		604854				10552930	Standard	NM_001199219		Approved		uc003tbs.1	O95050	OTTHUMG00000167163	ENST00000013222.5:c.381G>A	7.37:g.30795056G>A						FAM188B_uc010kwe.2_Intron|INMT_uc010kwc.1_RNA|INMT_uc010kwd.1_Silent_p.K126K	p.K127K	NM_006774	NP_006765	O95050	INMT_HUMAN			3	397	+			127					B8ZZ69|Q3KP49|Q9P1Y2|Q9UBY4|Q9UHQ0	Silent	SNP	ENST00000013222.5	37	c.381G>A	CCDS5430.1																																																																																				0.637	INMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214993.3	NM_006774	
SEPT7	989	broad.mit.edu	37	7	35872442	35872442	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr7:35872442C>T	ENST00000399034.2	+	3	297	c.104C>T	c.(103-105)gCc>gTc	p.A35V	SEPT7_ENST00000469679.2_Missense_Mutation_p.A33V|SEPT7_ENST00000350320.6_Missense_Mutation_p.A33V|SEPT7_ENST00000399035.3_Missense_Mutation_p.A33V|SEPT7_ENST00000435235.1_5'UTR|SEPT7_ENST00000475109.1_3'UTR|SEPT7_ENST00000494488.2_Missense_Mutation_p.A20V			Q16181	SEPT7_HUMAN	septin 7	34					cilium morphogenesis (GO:0060271)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein heterooligomerization (GO:0051291)|regulation of embryonic cell shape (GO:0016476)	actin cytoskeleton (GO:0015629)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|septin complex (GO:0031105)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						GTGGGATTTGCCAATCTCCCA	0.363																																						uc010kxc.2																			0					0						c.(100-102)GCC>GTC		cell division cycle 10 isoform 1							162.0	155.0	157.0					7																	35872442		1833	4088	5921	SO:0001583	missense	989				cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity	g.chr7:35872442C>T	S72008	CCDS75582.1	7p14.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000122545	ENSG00000122545		"""Septins"""	1717	protein-coding gene	gene with protein product		603151	"""CDC10 cell division cycle 10 homolog (S. cerevisiae)"""	CDC10		8037772	Standard	NM_001788		Approved	CDC3, SEPT7A	uc011kau.2	Q16181	OTTHUMG00000155063	ENST00000399034.2:c.104C>T	7.37:g.35872442C>T	ENSP00000381992:p.Ala35Val					SEPT7_uc011kat.1_Missense_Mutation_p.A33V|SEPT7_uc011kau.1_Intron|SEPT7_uc011kav.1_5'UTR	p.A34V	NM_001788	NP_001779	Q16181	SEPT7_HUMAN			2	294	+			34					Q52M76|Q6NX50	Missense_Mutation	SNP	ENST00000399034.2	37	c.101C>T		.	.	.	.	.	.	.	.	.	.	C	27.4	4.827597	0.90955	.	.	ENSG00000122545	ENST00000399034;ENST00000350320;ENST00000469679;ENST00000399035;ENST00000494488	T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31	5.58	5.58	0.84498	.	0.068988	0.56097	U	0.000025	T	0.55097	0.1899	M	0.65677	2.01	0.80722	D	1	D;D	0.63046	0.979;0.992	P;P	0.57101	0.813;0.813	T	0.56998	-0.7886	10	0.66056	D	0.02	.	18.345	0.90318	0.0:1.0:0.0:0.0	.	33;34	E7EPK1;Q16181	.;SEPT7_HUMAN	V	35;33;33;33;20	ENSP00000381992:A35V;ENSP00000344868:A33V;ENSP00000444501:A33V;ENSP00000381993:A33V;ENSP00000438395:A20V	ENSP00000344868:A33V	A	+	2	0	SEPT7	35838967	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.640000	0.83355	2.636000	0.89361	0.655000	0.94253	GCC		0.363	SEPT7-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001788	
NACAD	23148	broad.mit.edu	37	7	45120514	45120514	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr7:45120514C>G	ENST00000490531.2	-	6	4531	c.4512G>C	c.(4510-4512)agG>agC	p.R1504S		NM_001146334.1	NP_001139806.1	O15069	NACAD_HUMAN	NAC alpha domain containing	1504					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|skin(2)	5						TGCACTCCAGCCTCACCCGGG	0.637																																						uc003tmt.2																			0					0						c.(4510-4512)AGG>AGC		NAC alpha domain containing							35.0	34.0	35.0					7																	45120514		692	1591	2283	SO:0001583	missense	23148				protein transport	cytoplasm|nucleus		g.chr7:45120514C>G	AB002361	CCDS47582.1	7p13	2010-07-14			ENSG00000136274	ENSG00000136274			22196	protein-coding gene	gene with protein product							Standard	NM_001146334		Approved	KIAA0363	uc003tmt.3	O15069	OTTHUMG00000159170	ENST00000490531.2:c.4512G>C	7.37:g.45120514C>G	ENSP00000420477:p.Arg1504Ser						p.R1504S	NM_001146334	NP_001139806	O15069	NACAD_HUMAN			6	4512	-			1504						Missense_Mutation	SNP	ENST00000490531.2	37	c.4512G>C	CCDS47582.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.512180	0.27036	.	.	ENSG00000136274	ENST00000490531	T	0.10860	2.83	4.05	0.317	0.15861	.	0.168485	0.49916	D	0.000130	T	0.08268	0.0206	L	0.38531	1.155	0.09310	N	1	P	0.45957	0.869	B	0.43950	0.437	T	0.35351	-0.9792	10	0.17369	T	0.5	-9.7348	7.839	0.29387	0.0:0.5693:0.0:0.4307	.	1504	O15069	NACAD_HUMAN	S	1504	ENSP00000420477:R1504S	ENSP00000420477:R1504S	R	-	3	2	NACAD	45087039	0.000000	0.05858	0.024000	0.17045	0.732000	0.41865	-0.239000	0.08965	-0.042000	0.13535	0.442000	0.29010	AGG		0.637	NACAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353652.2	NM_001146334	
COL1A2	1278	broad.mit.edu	37	7	94034005	94034005	+	Splice_Site	SNP	G	G	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr7:94034005G>T	ENST00000297268.6	+	8	796	c.325G>T	c.(325-327)Ggc>Tgc	p.G109C		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	109					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TTTCTTTTAGGGCCCTCAAGG	0.403										HNSCC(75;0.22)																												uc003ung.1																		COL1A2/PLAG1(3)	0				soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(325-327)GGC>TGC		alpha 2 type I collagen precursor	Collagenase(DB00048)						90.0	99.0	96.0					7																	94034005		2203	4300	6503	SO:0001630	splice_region_variant	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94034005G>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.325-1G>T	7.37:g.94034005G>T		HNSCC(75;0.22)				COL1A2_uc011kib.1_Missense_Mutation_p.G109C|COL1A2_uc010lfh.1_5'Flank	p.G109C	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		8	796	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		109					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.325G>T	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.019508	0.35606	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.99369	-5.78	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.99743	0.9898	H	0.99516	4.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.97083	0.9785	9	.	.	.	.	16.9537	0.86252	0.0:0.1274:0.8726:0.0	.	109;109	B4DTF5;P08123	.;CO1A2_HUMAN	C	109;110	ENSP00000297268:G109C	.	G	+	1	0	COL1A2	93871941	1.000000	0.71417	0.996000	0.52242	0.052000	0.14988	9.476000	0.97823	2.814000	0.96858	0.655000	0.94253	GGC		0.403	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089	Missense_Mutation
MUC17	140453	broad.mit.edu	37	7	100675953	100675953	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr7:100675953A>G	ENST00000306151.4	+	3	1320	c.1256A>G	c.(1255-1257)gAc>gGc	p.D419G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	419	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ATTCCTGTTGACTCCAAAACT	0.463																																						uc003uxp.1																			0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(1255-1257)GAC>GGC		mucin 17 precursor							188.0	196.0	193.0					7																	100675953		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100675953A>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.1256A>G	7.37:g.100675953A>G	ENSP00000302716:p.Asp419Gly					MUC17_uc010lho.1_RNA	p.D419G	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	1309	+	Lung NSC(181;0.136)|all_lung(186;0.182)		419			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.1256A>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	1.743	-0.491255	0.04322	.	.	ENSG00000169876	ENST00000306151	T	0.02974	4.09	1.22	-2.44	0.06502	.	.	.	.	.	T	0.01189	0.0039	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.47674	-0.9099	9	0.21014	T	0.42	.	3.2617	0.06851	0.2898:0.4737:0.0:0.2365	.	419	Q685J3	MUC17_HUMAN	G	419	ENSP00000302716:D419G	ENSP00000302716:D419G	D	+	2	0	MUC17	100462673	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.392000	0.01056	-0.680000	0.05211	0.321000	0.21382	GAC		0.463	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
MGAM	8972	broad.mit.edu	37	7	141736731	141736731	+	Missense_Mutation	SNP	C	C	T	rs375055229		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr7:141736731C>T	ENST00000549489.2	+	18	2280	c.2185C>T	c.(2185-2187)Cgt>Tgt	p.R729C	MGAM_ENST00000475668.2_Missense_Mutation_p.R729C	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	729	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCTCTTCTTCCGTGCTCACAG	0.493																																						uc003vwy.2																			0				ovary(2)	2						c.(2185-2187)CGT>TGT		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						199.0	203.0	202.0					7																	141736731		2035	4196	6231	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141736731C>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.2185C>T	7.37:g.141736731C>T	ENSP00000447378:p.Arg729Cys						p.R729C	NM_004668	NP_004659	O43451	MGA_HUMAN			18	2239	+	Melanoma(164;0.0272)		729			Lumenal (Potential).|Maltase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.2185C>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.324235	0.60634	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.91686	-2.89	5.81	0.855	0.19013	Glycoside hydrolase, superfamily (1);	0.281671	0.23492	N	0.047582	D	0.95258	0.8462	M	0.90977	3.165	0.27381	N	0.955409	D	0.89917	1.0	D	0.71184	0.972	D	0.88585	0.3139	10	0.87932	D	0	.	4.0519	0.09800	0.3514:0.3655:0.0:0.2831	.	729	O43451	MGA_HUMAN	C	729;729;606	ENSP00000447378:R729C	ENSP00000316431:R606C	R	+	1	0	MGAM	141383200	0.689000	0.27690	0.013000	0.15412	0.993000	0.82548	1.958000	0.40402	-0.111000	0.12001	0.650000	0.86243	CGT		0.493	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3		
PRSS58	136541	broad.mit.edu	37	7	141954883	141954883	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr7:141954883C>T	ENST00000552471.1	-	3	747	c.428G>A	c.(427-429)tGt>tAt	p.C143Y	PRSS58_ENST00000547058.2_Missense_Mutation_p.C143Y			Q8IYP2	PRS58_HUMAN	protease, serine, 58	143	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						ACAGATATCACACACATTGTA	0.433																																						uc003vxb.2																			0					0						c.(427-429)TGT>TAT		trypsin X3 precursor							218.0	197.0	204.0					7																	141954883		2203	4300	6503	SO:0001583	missense	136541				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141954883C>T		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.428G>A	7.37:g.141954883C>T	ENSP00000446916:p.Cys143Tyr					TRYX3_uc003vxc.3_Missense_Mutation_p.C143Y	p.C143Y	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN			3	748	-	Melanoma(164;0.0272)		143			Peptidase S1.		B3KVJ6|D3DXD2	Missense_Mutation	SNP	ENST00000552471.1	37	c.428G>A	CCDS5871.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133310	0.37630	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	D;D	0.88277	-2.36;-2.36	4.93	4.93	0.64822	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.73900	0.3646	N	0.01003	-1.06	0.43377	D	0.995476	B	0.23377	0.084	B	0.22880	0.042	T	0.73697	-0.3901	9	0.87932	D	0	.	16.012	0.80409	0.0:1.0:0.0:0.0	.	143	Q8IYP2	PRS58_HUMAN	Y	143	ENSP00000447588:C143Y;ENSP00000446916:C143Y	ENSP00000307206:C143Y	C	-	2	0	PRSS58	141601360	0.023000	0.18921	0.916000	0.36221	0.063000	0.16089	1.677000	0.37576	2.732000	0.93576	0.655000	0.94253	TGT		0.433	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317	
ZNF282	8427	broad.mit.edu	37	7	148921339	148921339	+	Missense_Mutation	SNP	G	G	A	rs377317185		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr7:148921339G>A	ENST00000262085.3	+	8	1721	c.1616G>A	c.(1615-1617)aGc>aAc	p.S539N	ZNF282_ENST00000479907.1_Splice_Site	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	539					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CACCACCGCAGCCACACCAAG	0.682																																						uc003wfm.2																			0					0						c.(1615-1617)AGC>AAC		zinc finger protein 282		G	ASN/SER	1,4405	2.1+/-5.4	0,1,2202	28.0	27.0	28.0		1616	2.5	1.0	7		28	0,8598		0,0,4299	no	missense	ZNF282	NM_003575.2	46	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	539/672	148921339	1,13003	2203	4299	6502	SO:0001583	missense	8427				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148921339G>A	D30612	CCDS5895.1	7q36.1	2013-01-08			ENSG00000170265	ENSG00000170265		"""Zinc fingers, C2H2-type"", ""-"""	13076	protein-coding gene	gene with protein product		603397				9396811	Standard	NM_003575		Approved	HUB1	uc003wfm.3	Q9UDV7	OTTHUMG00000158974	ENST00000262085.3:c.1616G>A	7.37:g.148921339G>A	ENSP00000262085:p.Ser539Asn					ZNF282_uc011kun.1_Splice_Site_p.P454_splice|ZNF282_uc003wfo.2_Missense_Mutation_p.A216T	p.S539N	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)	8	1721	+	Melanoma(164;0.15)		539			C2H2-type 1.		B4DRI5|O43691|Q6DKK0	Missense_Mutation	SNP	ENST00000262085.3	37	c.1616G>A	CCDS5895.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.268|5.268	0.234813|0.234813	0.09969|0.09969	2.27E-4|2.27E-4	0.0|0.0	ENSG00000170265|ENSG00000170265	ENST00000479907|ENST00000430197;ENST00000262085	.|T	.|0.17691	.|2.26	4.28|4.28	2.47|2.47	0.30058|0.30058	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.106321	.|0.42294	.|D	.|0.000739	.|T	.|0.09992	.|0.0245	N|N	0.26162|0.26162	0.8|0.8	0.80722|0.80722	D|D	1|1	.|B	.|0.09022	.|0.002	.|B	.|0.10450	.|0.005	.|T	.|0.16100	.|-1.0414	.|10	.|0.44086	.|T	.|0.13	.|-15.4035	3.8343|3.8343	0.08888|0.08888	0.2039:0.0:0.6073:0.1888|0.2039:0.0:0.6073:0.1888	.|.	.|539	.|Q9UDV7	.|ZN282_HUMAN	.|N	-1|192;539	.|ENSP00000262085:S539N	.|ENSP00000262085:S539N	.|S	+|+	.|2	.|0	ZNF282|ZNF282	148552272|148552272	0.000000|0.000000	0.05858|0.05858	1.000000|1.000000	0.80357|0.80357	0.046000|0.046000	0.14306|0.14306	-4.164000|-4.164000	0.00282|0.00282	0.458000|0.458000	0.26988|0.26988	0.561000|0.561000	0.74099|0.74099	.|AGC		0.682	ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352746.1	NM_003575	
TEX15	56154	broad.mit.edu	37	8	30694497	30694497	+	Silent	SNP	C	C	T	rs142941425		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr8:30694497C>T	ENST00000256246.2	-	3	8228	c.8154G>A	c.(8152-8154)gcG>gcA	p.A2718A		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2718					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GTGGCTCCCCCGCAAAATAAG	0.423																																						uc003xil.2																			0				ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(8152-8154)GCG>GCA		testis expressed 15		A		0,4406		0,0,2203	73.0	75.0	74.0		8154	1.6	0.0	8	dbSNP_134	74	2,8598		0,2,4298	no	coding-synonymous	TEX15	NM_031271.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		2718/2790	30694497	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	56154							g.chr8:30694497C>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.8154G>A	8.37:g.30694497C>T							p.A2718A	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	3	8154	-			2718						Silent	SNP	ENST00000256246.2	37	c.8154G>A	CCDS6080.1																																																																																				0.423	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
PXDNL	137902	broad.mit.edu	37	8	52387561	52387561	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr8:52387561G>A	ENST00000356297.4	-	7	765	c.665C>T	c.(664-666)gCt>gTt	p.A222V	PXDNL_ENST00000543296.1_Missense_Mutation_p.A222V	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	222	LRRCT.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGTTACTGAAGCAACTGCACG	0.463																																						uc003xqu.3																			0				ovary(1)|pancreas(1)	2						c.(664-666)GCT>GTT		peroxidasin homolog-like precursor							64.0	63.0	63.0					8																	52387561		1898	4122	6020	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52387561G>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.665C>T	8.37:g.52387561G>A	ENSP00000348645:p.Ala222Val						p.A222V	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			7	766	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	222			LRRCT.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.665C>T	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.745383	0.30955	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.51325	0.71;0.71	4.53	0.521	0.17046	Cysteine-rich flanking region, C-terminal (1);	.	.	.	.	T	0.32224	0.0822	L	0.35593	1.075	0.09310	N	1	B	0.16396	0.017	B	0.15484	0.013	T	0.20940	-1.0260	9	0.39692	T	0.17	.	5.5877	0.17283	0.2636:0.1425:0.5938:0.0	.	222	A1KZ92	PXDNL_HUMAN	V	222	ENSP00000348645:A222V;ENSP00000444865:A222V	ENSP00000348645:A222V	A	-	2	0	PXDNL	52550114	0.030000	0.19436	0.000000	0.03702	0.005000	0.04900	1.886000	0.39688	0.033000	0.15463	-0.142000	0.14014	GCT		0.463	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651	
TSNARE1	203062	broad.mit.edu	37	8	143436006	143436006	+	Missense_Mutation	SNP	T	T	C	rs117184426	byFrequency	TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr8:143436006T>C	ENST00000307180.3	-	2	197	c.80A>G	c.(79-81)cAg>cGg	p.Q27R	TSNARE1_ENST00000520166.1_Missense_Mutation_p.Q27R|TSNARE1_ENST00000524325.1_Missense_Mutation_p.Q27R|TSNARE1_ENST00000519651.1_Missense_Mutation_p.Q27R	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	27					intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ACCTAGGGGCTGACAGCCTTG	0.602													T|||	12	0.00239617	0.0008	0.0	5008	,	,		15460	0.0		0.006	False		,,,				2504	0.0051					uc003ywk.2																			0					0						c.(79-81)CAG>CGG		t-SNARE domain containing 1		T	ARG/GLN	2,4404	4.2+/-10.8	0,2,2201	49.0	40.0	43.0		80	3.2	1.0	8	dbSNP_132	43	19,8581	12.6+/-44.7	0,19,4281	yes	missense	TSNARE1	NM_145003.3	43	0,21,6482	CC,CT,TT		0.2209,0.0454,0.1615	benign	27/514	143436006	21,12985	2203	4300	6503	SO:0001583	missense	203062				vesicle-mediated transport	integral to membrane		g.chr8:143436006T>C			8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.80A>G	8.37:g.143436006T>C	ENSP00000303437:p.Gln27Arg					TSNARE1_uc011lju.1_Missense_Mutation_p.Q27R|TSNARE1_uc003ywj.2_Missense_Mutation_p.Q27R|TSNARE1_uc003ywl.3_Missense_Mutation_p.Q27R	p.Q27R	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN			2	198	-	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		27					B7ZLB0|Q14D03	Missense_Mutation	SNP	ENST00000307180.3	37	c.80A>G	CCDS6384.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	T	17.47	3.397785	0.62177	4.54E-4	0.002209	ENSG00000171045	ENST00000524325;ENST00000307180;ENST00000520166;ENST00000519651;ENST00000520462;ENST00000518720	T;T;T;T;T;T	0.35048	1.51;1.48;1.51;1.44;1.4;1.33	3.19	3.19	0.36642	.	0.000000	0.31797	U	0.007055	T	0.34077	0.0885	L	0.32530	0.975	0.21841	N	0.999516	D;D;D;D	0.57899	0.981;0.981;0.981;0.981	D;D;D;D	0.65140	0.932;0.932;0.932;0.932	T	0.06698	-1.0812	10	0.87932	D	0	-0.631	8.4148	0.32666	0.0:0.0:0.0:1.0	.	27;27;27;27	B7ZLB0;E5RHT3;Q96NA8;A0AVG3	.;.;TSNA1_HUMAN;.	R	27;27;27;27;27;43	ENSP00000428763:Q27R;ENSP00000303437:Q27R;ENSP00000427770:Q27R;ENSP00000429679:Q27R;ENSP00000429626:Q27R;ENSP00000430789:Q43R	ENSP00000303437:Q27R	Q	-	2	0	TSNARE1	143433913	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	1.548000	0.36201	1.397000	0.46682	0.460000	0.39030	CAG		0.602	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003	
SPATC1	375686	broad.mit.edu	37	8	145095019	145095019	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr8:145095019C>G	ENST00000377470.3	+	2	523	c.421C>G	c.(421-423)Ctg>Gtg	p.L141V	SPATC1_ENST00000447830.2_Missense_Mutation_p.L141V	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	141						centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CACCAGCTTCCTGACCAGTCC	0.682																																						uc011lkw.1																			0				ovary(1)|central_nervous_system(1)	2						c.(421-423)CTG>GTG		spermatogenesis and centriole associated 1							49.0	42.0	44.0					8																	145095019		2203	4300	6503	SO:0001583	missense	375686							g.chr8:145095019C>G	BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.421C>G	8.37:g.145095019C>G	ENSP00000366690:p.Leu141Val					SPATC1_uc011lkx.1_Missense_Mutation_p.L141V	p.L141V	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	523	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		141					B4DWW9|Q5U5I8|Q7Z6L7	Missense_Mutation	SNP	ENST00000377470.3	37	c.421C>G	CCDS6413.2	.	.	.	.	.	.	.	.	.	.	C	14.86	2.662936	0.47572	.	.	ENSG00000186583	ENST00000377470;ENST00000447830	T;T	0.45276	0.9;0.9	4.62	2.7	0.31948	.	0.452539	0.16878	N	0.195802	T	0.34687	0.0906	M	0.65975	2.015	0.09310	N	1	B;B	0.30851	0.297;0.093	B;B	0.27262	0.078;0.025	T	0.20840	-1.0263	10	0.15952	T	0.53	-4.6366	7.3655	0.26770	0.1854:0.6199:0.1947:0.0	.	141;141	B4DWW9;Q76KD6	.;SPERI_HUMAN	V	141	ENSP00000366690:L141V;ENSP00000387613:L141V	ENSP00000366690:L141V	L	+	1	2	SPATC1	145167007	0.016000	0.18221	0.150000	0.22450	0.094000	0.18550	0.655000	0.24933	0.427000	0.26145	0.555000	0.69702	CTG		0.682	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346926.1	NM_198572	
ADAMTSL1	92949	broad.mit.edu	37	9	18777020	18777020	+	Silent	SNP	T	T	C			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr9:18777020T>C	ENST00000380548.4	+	19	3132	c.2793T>C	c.(2791-2793)taT>taC	p.Y931Y		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	931	Ig-like C2-type 1.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCTTCGGCTATCTCAAGATCC	0.662																																						uc003zne.3																			0				ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5						c.(2791-2793)TAT>TAC		ADAMTS-like 1 isoform 4 precursor							43.0	51.0	48.0					9																	18777020		2050	4198	6248	SO:0001819	synonymous_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18777020T>C	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.2793T>C	9.37:g.18777020T>C							p.Y931Y	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	19	2920	+			931			Ig-like C2-type 1.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	37	c.2793T>C	CCDS47954.1																																																																																				0.662	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1		
NOL6	65083	broad.mit.edu	37	9	33467806	33467806	+	Silent	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr9:33467806C>T	ENST00000379471.2	-	12	1572	c.1485G>A	c.(1483-1485)ctG>ctA	p.L495L	NOL6_ENST00000455041.2_Silent_p.L443L|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	495					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CATTGTCCTGCAGCTCTGGCC	0.637																																						uc003zsz.2																			0				ovary(2)	2						c.(1483-1485)CTG>CTA		nucleolar protein family 6 alpha isoform							26.0	27.0	26.0					9																	33467806		2203	4298	6501	SO:0001819	synonymous_variant	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33467806C>T	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.1485G>A	9.37:g.33467806C>T						SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'Flank|NOL6_uc003zta.2_Silent_p.L495L|NOL6_uc010mjv.2_Silent_p.L492L|NOL6_uc011lob.1_Silent_p.L443L|NOL6_uc003ztb.1_Silent_p.L495L	p.L495L	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	12	1586	-			495					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Silent	SNP	ENST00000379471.2	37	c.1485G>A																																																																																					0.637	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917	
C9orf139	401563	broad.mit.edu	37	9	139929144	139929144	+	Missense_Mutation	SNP	C	C	T	rs535490102		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr9:139929144C>T	ENST00000314330.2	+	3	1725	c.211C>T	c.(211-213)Cgc>Tgc	p.R71C	RP11-229P13.20_ENST00000457302.2_lincRNA|FUT7_ENST00000314412.6_5'Flank	NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	chromosome 9 open reading frame 139	71										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		TGTCCTGCCACGCCTGCGGGT	0.657													c|||	1	0.000199681	0.0008	0.0	5008	,	,		11549	0.0		0.0	False		,,,				2504	0.0					uc004ckp.1																			0					0						c.(211-213)CGC>TGC		hypothetical protein LOC401563							42.0	50.0	47.0					9																	139929144		2201	4287	6488	SO:0001583	missense	401563							g.chr9:139929144C>T		CCDS7023.1	9q34.3	2008-02-05			ENSG00000180539	ENSG00000180539			31426	protein-coding gene	gene with protein product							Standard	NM_207511		Approved	FLJ36268, FLJ42909	uc004ckp.1	Q6ZV77	OTTHUMG00000020959	ENST00000314330.2:c.211C>T	9.37:g.139929144C>T	ENSP00000318119:p.Arg71Cys					FUT7_uc004ckq.2_5'Flank	p.R71C	NM_207511	NP_997394	Q6ZV77	CI139_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)	3	1725	+	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	71					A2RUA3|B9EGW2|Q5SPY0|Q8N224	Missense_Mutation	SNP	ENST00000314330.2	37	c.211C>T	CCDS7023.1	.	.	.	.	.	.	.	.	.	.	c	3.849	-0.032213	0.07543	.	.	ENSG00000180539	ENST00000314330	T	0.56611	0.45	1.68	0.75	0.18387	.	.	.	.	.	T	0.26919	0.0659	N	0.08118	0	0.09310	N	1	B	0.25272	0.122	B	0.12156	0.007	T	0.16335	-1.0406	9	0.59425	D	0.04	.	4.0241	0.09678	0.0:0.7739:0.0:0.2261	.	71	Q6ZV77	CI139_HUMAN	C	71	ENSP00000318119:R71C	ENSP00000318119:R71C	R	+	1	0	C9orf139	139048965	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.354000	0.20146	0.271000	0.22005	0.290000	0.19541	CGC		0.657	C9orf139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055213.2	NM_207511	
TUBBP5	643224	broad.mit.edu	37	9	141071110	141071110	+	RNA	SNP	A	A	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr9:141071110A>G	ENST00000503395.1	+	0	1735									tubulin, beta pseudogene 5									p.P243P(7)									TGCGCTTCCCAGGCCAGCTGA	0.597																																						uc004com.2																			7	Substitution - coding silent(7)		kidney(3)|prostate(2)|endometrium(2)		0						c.(511-513)CCA>CCG		RecName: Full=Putative tubulin beta-4q chain;																																						643224							g.chr9:141071110A>G	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141071110A>G						TUBBP5_uc010ncq.2_3'UTR	p.P171P							4	774	+									Silent	SNP	ENST00000503395.1	37	c.513A>G																																																																																					0.597	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156	
DACH2	117154	broad.mit.edu	37	X	85403790	85403790	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chrX:85403790G>A	ENST00000373125.4	+	1	166	c.166G>A	c.(166-168)Gga>Aga	p.G56R	DACH2_ENST00000373131.1_Missense_Mutation_p.G56R	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	56	Poly-Gly.				development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G56R(2)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CAACAGTGCCGGAGGCGGCGG	0.567																																						uc004eew.2																			2	Substitution - Missense(2)		large_intestine(2)	ovary(4)|pancreas(1)	5						c.(166-168)GGA>AGA		dachshund 2 isoform a							67.0	53.0	58.0					X																	85403790		2203	4300	6503	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85403790G>A	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.166G>A	X.37:g.85403790G>A	ENSP00000362217:p.Gly56Arg					DACH2_uc004eex.2_Missense_Mutation_p.G56R|DACH2_uc010nmq.2_5'UTR	p.G56R	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN			1	336	+			56			Poly-Gly.		B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.166G>A	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.415210	0.01136	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125	D;D	0.83419	-1.72;-1.72	4.28	0.109	0.14578	DNA binding domain, putative (1);Transforming protein Ski (1);	0.772618	0.10896	N	0.622141	T	0.66799	0.2826	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.54050	-0.8351	10	0.51188	T	0.08	.	1.6564	0.02782	0.2698:0.134:0.457:0.1391	.	56;56	Q96NX9-2;Q96NX9	.;DACH2_HUMAN	R	56	ENSP00000362223:G56R;ENSP00000362217:G56R	ENSP00000345134:G56R	G	+	1	0	DACH2	85290446	0.645000	0.27286	0.000000	0.03702	0.039000	0.13416	0.723000	0.25939	-0.035000	0.13691	-0.276000	0.10085	GGA		0.567	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281	
SRPX2	27286	broad.mit.edu	37	X	99925877	99925877	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chrX:99925877T>C	ENST00000373004.3	+	11	1719	c.1291T>C	c.(1291-1293)Tac>Cac	p.Y431H	RP11-524D16__A.3_ENST00000568809.1_RNA	NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	431					angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						CCGAGACCGCTACATGGAACC	0.512											OREG0019890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004egb.2																			0				ovary(2)	2						c.(1291-1293)TAC>CAC		sushi-repeat-containing protein, X-linked 2							159.0	122.0	135.0					X																	99925877		2203	4300	6503	SO:0001583	missense	27286				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding	g.chrX:99925877T>C	AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"""sushi-repeat-containing protein, X-linked 2"""			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.1291T>C	X.37:g.99925877T>C	ENSP00000362095:p.Tyr431His		OREG0019890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1347		p.Y431H	NM_014467	NP_055282	O60687	SRPX2_HUMAN			11	1771	+			431					B3KQT3|Q8WW85	Missense_Mutation	SNP	ENST00000373004.3	37	c.1291T>C	CCDS14471.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.323245	0.81580	.	.	ENSG00000102359	ENST00000373004	T	0.44482	0.92	5.09	5.09	0.68999	.	0.055523	0.64402	D	0.000001	T	0.61148	0.2324	M	0.67397	2.05	0.53005	D	0.999965	D	0.76494	0.999	D	0.72338	0.977	T	0.62020	-0.6942	9	.	.	.	-13.7286	14.0189	0.64541	0.0:0.0:0.0:1.0	.	431	O60687	SRPX2_HUMAN	H	431	ENSP00000362095:Y431H	.	Y	+	1	0	SRPX2	99812533	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	7.038000	0.76537	1.885000	0.54596	0.425000	0.28330	TAC		0.512	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057486.1	NM_014467	
GPRASP2	114928	broad.mit.edu	37	X	101972268	101972268	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chrX:101972268C>G	ENST00000535209.1	+	4	3302	c.2471C>G	c.(2470-2472)gCc>gGc	p.A824G	GPRASP2_ENST00000543253.1_Missense_Mutation_p.A824G|GPRASP2_ENST00000332262.5_Missense_Mutation_p.A824G			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	824						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						CAACTACAAGCCCAAATAGAC	0.403																																						uc004ejk.2																			0				ovary(1)	1						c.(2470-2472)GCC>GGC		G protein-coupled receptor associated sorting							91.0	97.0	95.0					X																	101972268		2201	4287	6488	SO:0001583	missense	114928					cytoplasm	protein binding	g.chrX:101972268C>G	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.2471C>G	X.37:g.101972268C>G	ENSP00000437394:p.Ala824Gly					GPRASP2_uc004ejl.2_Missense_Mutation_p.A824G|GPRASP2_uc004ejm.2_Missense_Mutation_p.A824G|GPRASP2_uc011mrp.1_Missense_Mutation_p.A163G	p.A824G	NM_138437	NP_612446	Q96D09	GASP2_HUMAN			4	3805	+			824					D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	37	c.2471C>G	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	C	0.847	-0.739992	0.03088	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.30448	1.53;1.53;1.53	4.04	-2.92	0.05615	Armadillo-type fold (1);	1.597100	0.03893	N	0.279045	T	0.11110	0.0271	N	0.01048	-1.04	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.27839	-1.0062	10	0.19590	T	0.45	1.4477	10.9186	0.47150	0.0:0.7114:0.0:0.2886	.	824	Q96D09	GASP2_HUMAN	G	824	ENSP00000437872:A824G;ENSP00000437394:A824G;ENSP00000339057:A824G	ENSP00000339057:A824G	A	+	2	0	GPRASP2	101858924	0.965000	0.33210	0.029000	0.17559	0.973000	0.67179	-0.032000	0.12266	-0.741000	0.04797	-0.322000	0.08575	GCC		0.403	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437	
ZCCHC18	644353	broad.mit.edu	37	X	103359839	103359839	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chrX:103359839C>G	ENST00000537356.3	+	2	2451	c.1037C>G	c.(1036-1038)aCa>aGa	p.T346R	ZCCHC18_ENST00000422784.1_Intron|SLC25A53_ENST00000357421.4_Intron			P0CG32	ZCC18_HUMAN	zinc finger, CCHC domain containing 18	346							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)										CGAAAATACACAACCCGCTGT	0.483																																						uc011msh.1																			0					0						c.(1036-1038)ACA>AGA		zinc finger, CCHC domain containing 18							105.0	86.0	92.0					X																	103359839		692	1591	2283	SO:0001583	missense	644353						nucleic acid binding|zinc ion binding	g.chrX:103359839C>G	AF086548	CCDS65304.1	Xq22.2	2013-01-31	2009-02-03		ENSG00000166707	ENSG00000166707		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	32459	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7B"""		"""zinc finger, CCHC domain containing 12 pseudogene 1"""				Standard	NM_001143978		Approved	SIZN2, PNMA7B	uc011msh.2	P0CG32	OTTHUMG00000022123	ENST00000537356.3:c.1037C>G	X.37:g.103359839C>G	ENSP00000473824:p.Thr346Arg					MCART6_uc004elu.2_Intron|ZCCHC18_uc011msg.1_Intron	p.T346R	NM_001143978	NP_001137450	P0CG32	ZCC18_HUMAN			3	2353	+			346						Missense_Mutation	SNP	ENST00000537356.3	37	c.1037C>G																																																																																					0.483	ZCCHC18-006	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471686.1	NM_001143978	
