#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
LEPRE1	64175	broad.mit.edu	37	1	43215947	43215947	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr1:43215947T>C	ENST00000296388.5	-	11	1681	c.1630A>G	c.(1630-1632)Aag>Gag	p.K544E	LEPRE1_ENST00000236040.4_Missense_Mutation_p.K544E|LEPRE1_ENST00000462474.1_5'Flank|LEPRE1_ENST00000397054.3_Missense_Mutation_p.K544E			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	544					bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CGCCGCACCTTCTCCGTCACG	0.577																																						uc001chv.2																			0				ovary(3)|lung(1)	4						c.(1630-1632)AAG>GAG		leprecan 1 isoform 1	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						136.0	109.0	118.0					1																	43215947		2203	4300	6503	SO:0001583	missense	64175				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr1:43215947T>C	AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 1"", ""growth suppressor 1"""	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.1630A>G	1.37:g.43215947T>C	ENSP00000296388:p.Lys544Glu					LEPRE1_uc001chw.2_Missense_Mutation_p.K544E|LEPRE1_uc001chx.3_Missense_Mutation_p.K544E	p.K544E	NM_022356	NP_071751	Q32P28	P3H1_HUMAN			11	1743	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	544					Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Missense_Mutation	SNP	ENST00000296388.5	37	c.1630A>G	CCDS472.2	.	.	.	.	.	.	.	.	.	.	T	18.75	3.689838	0.68271	.	.	ENSG00000117385	ENST00000397054;ENST00000236040;ENST00000296388;ENST00000540027	T;T;T	0.42513	0.97;0.97;0.97	5.13	5.13	0.70059	Prolyl 4-hydroxylase, alpha subunit (1);	0.151725	0.64402	D	0.000019	T	0.45296	0.1335	L	0.56124	1.755	0.36262	D	0.854639	P;P;P	0.49253	0.921;0.704;0.704	P;B;B	0.46543	0.52;0.294;0.294	T	0.60291	-0.7292	10	0.72032	D	0.01	-29.2974	12.8878	0.58053	0.0:0.0:0.0:1.0	.	544;409;544	Q32P28-3;B4DNM8;Q32P28	.;.;P3H1_HUMAN	E	544;544;544;409	ENSP00000380245:K544E;ENSP00000236040:K544E;ENSP00000296388:K544E	ENSP00000236040:K544E	K	-	1	0	LEPRE1	42988534	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.144000	0.71762	1.940000	0.56252	0.383000	0.25322	AAG		0.577	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019790.2	NM_022356	
NEXN	91624	broad.mit.edu	37	1	78401572	78401572	+	Missense_Mutation	SNP	G	G	T	rs200002561		TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr1:78401572G>T	ENST00000334785.7	+	11	1500	c.1316G>T	c.(1315-1317)aGg>aTg	p.R439M	NEXN_ENST00000480732.2_3'UTR|NEXN_ENST00000330010.8_Missense_Mutation_p.R375M|NEXN_ENST00000457030.1_Missense_Mutation_p.R425M	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AAATTAAAAAGGAGTGGCTCT	0.313																																						uc001dic.3																			0				ovary(2)	2						c.(1315-1317)AGG>ATG		nexilin (F actin binding protein)							49.0	49.0	49.0					1																	78401572		1797	4058	5855	SO:0001583	missense	91624				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle	g.chr1:78401572G>T	AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"""Immunoglobulin superfamily / I-set domain containing"""	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.1316G>T	1.37:g.78401572G>T	ENSP00000333938:p.Arg439Met					NEXN_uc001dia.3_Missense_Mutation_p.R425M|NEXN_uc009wcb.1_Missense_Mutation_p.R361M|NEXN_uc001dib.3_Missense_Mutation_p.R375M|NEXN_uc001did.1_Missense_Mutation_p.R349M|NEXN_uc001dif.1_Missense_Mutation_p.R331M|NEXN_uc001dig.3_Missense_Mutation_p.R80M	p.R439M	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN		Colorectal(170;0.114)	11	1613	+			439			Glu-rich.			Missense_Mutation	SNP	ENST00000334785.7	37	c.1316G>T	CCDS41351.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.9|27.9	4.869359|4.869359	0.91587|0.91587	.|.	.|.	ENSG00000162614|ENSG00000162614	ENST00000342754|ENST00000457030;ENST00000330010;ENST00000334785;ENST00000440324	.|T;T;T;T	.|0.78364	.|-0.34;-0.34;-0.03;-1.17	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	.|0.000000	.|0.64402	.|D	.|0.000018	.|D	.|0.86686	.|0.5992	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.999;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.991;0.979;0.999	.|D	.|0.84835	.|0.0804	.|10	.|0.51188	.|T	.|0.08	-14.9207|-14.9207	20.5632|20.5632	0.99335|0.99335	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|375;425;439;375	.|D3DQ79;Q0ZGT2-2;Q0ZGT2;B4DPZ7	.|.;.;NEXN_HUMAN;.	X|M	339|425;375;439;425	.|ENSP00000388048:R425M;ENSP00000327363:R375M;ENSP00000333938:R439M;ENSP00000411902:R425M	.|ENSP00000327363:R375M	G|R	+|+	1|2	0|0	NEXN|NEXN	78174160|78174160	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.909000|7.909000	0.87444|0.87444	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GGA|AGG		0.313	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573	
LPAR3	23566	broad.mit.edu	37	1	85331314	85331314	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr1:85331314T>C	ENST00000440886.1	-	1	528	c.490A>G	c.(490-492)Aca>Gca	p.T164A	LPAR3_ENST00000370611.3_Missense_Mutation_p.T164A|LPAR3_ENST00000491034.1_Intron			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	164					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						CAGCCCAGTGTGGGGACCGCC	0.527																																						uc001dkl.2																			0				lung(3)|ovary(2)	5						c.(490-492)ACA>GCA		lysophosphatidic acid receptor 3							117.0	118.0	118.0					1																	85331314		2203	4300	6503	SO:0001583	missense	23566				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		g.chr1:85331314T>C	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	14298	protein-coding gene	gene with protein product		605106	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"""	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.490A>G	1.37:g.85331314T>C	ENSP00000395389:p.Thr164Ala					LPAR3_uc009wcj.1_Missense_Mutation_p.T164A	p.T164A	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN			1	529	-			164			Helical; Name=4; (Potential).		A0AVA3	Missense_Mutation	SNP	ENST00000440886.1	37	c.490A>G	CCDS700.1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.933843	0.52866	.	.	ENSG00000171517	ENST00000440886;ENST00000370611	T;T	0.37411	1.2;1.2	5.32	5.32	0.75619	GPCR, rhodopsin-like superfamily (1);	0.045428	0.85682	D	0.000000	T	0.11410	0.0278	N	0.02286	-0.61	0.49051	D	0.999746	P	0.44429	0.835	P	0.46685	0.524	T	0.19516	-1.0303	10	0.22706	T	0.39	.	15.322	0.74129	0.0:0.0:0.0:1.0	.	164	Q9UBY5	LPAR3_HUMAN	A	164	ENSP00000395389:T164A;ENSP00000359643:T164A	ENSP00000359643:T164A	T	-	1	0	LPAR3	85103902	1.000000	0.71417	0.996000	0.52242	0.935000	0.57460	6.254000	0.72460	2.026000	0.59711	0.533000	0.62120	ACA		0.527	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152	
TDRD10	126668	broad.mit.edu	37	1	154493902	154493902	+	Frame_Shift_Del	DEL	A	A	-			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr1:154493902delA	ENST00000368480.3	+	6	401	c.316delA	c.(316-318)aaafs	p.K106fs	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368482.4_Frame_Shift_Del_p.K106fs			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	106	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GAATACAAGCAAAAGGCCCCC	0.517																																						uc009wow.2																			0				ovary(1)	1						c.(316-318)AAAfs		tudor domain containing 10 isoform a							153.0	164.0	160.0					1																	154493902		2203	4300	6503	SO:0001589	frameshift_variant	126668						nucleotide binding|RNA binding	g.chr1:154493902delA	AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"""Tudor domain containing"", ""RNA binding motif (RRM) containing"""	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.316delA	1.37:g.154493902delA	ENSP00000357465:p.Lys106fs					TDRD10_uc001ffd.2_Frame_Shift_Del_p.K106fs|TDRD10_uc001ffe.2_Frame_Shift_Del_p.K27fs	p.K106fs	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		6	1154	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		106			RRM.		A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Frame_Shift_Del	DEL	ENST00000368480.3	37	c.316delA	CCDS41406.1																																																																																				0.517	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090700.2	NM_182499	
SLC39A12	221074	broad.mit.edu	37	10	18276538	18276538	+	Silent	SNP	C	C	T	rs201107118		TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr10:18276538C>T	ENST00000377369.2	+	7	1500	c.1227C>T	c.(1225-1227)gtC>gtT	p.V409V	SLC39A12_ENST00000377374.4_Silent_p.V409V|SLC39A12_ENST00000377371.3_Silent_p.V409V|SLC39A12_ENST00000539911.1_Silent_p.V275V	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	409					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GCTTGGCCGTCGGGACACTGT	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		18107	0.001		0.0	False		,,,				2504	0.0					uc001ipo.2																			0				ovary(1)|breast(1)	2						c.(1225-1227)GTC>GTT		solute carrier family 39 (zinc transporter),							173.0	151.0	158.0					10																	18276538		2203	4300	6503	SO:0001819	synonymous_variant	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18276538C>T		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1227C>T	10.37:g.18276538C>T						SLC39A12_uc001ipn.2_Silent_p.V409V|SLC39A12_uc001ipp.2_Silent_p.V409V|SLC39A12_uc010qck.1_Silent_p.V275V	p.V409V	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN			7	1500	+			409			Helical; (Potential).		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Silent	SNP	ENST00000377369.2	37	c.1227C>T	CCDS44362.1																																																																																				0.502	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725	
SKIDA1	387640	broad.mit.edu	37	10	21805467	21805469	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr10:21805467_21805469delCCT	ENST00000449193.2	-	4	3535_3537	c.1283_1285delAGG	c.(1282-1287)gagggg>ggg	p.E428del	SKIDA1_ENST00000487107.1_5'Flank|SKIDA1_ENST00000444772.3_In_Frame_Del_p.E349del	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	347						nucleus (GO:0005634)		p.E428_G429insEE(2)									CCGCTGCccccctcctcctcctc	0.616																																						uc009xkd.2																			2	Insertion - In frame(2)		soft_tissue(2)	ovary(1)	1						c.(1282-1287)GAGGGG>GGG		hypothetical protein LOC387640																																				SO:0001651	inframe_deletion	387640					nucleus	nucleotide binding	g.chr10:21805467_21805469delCCT	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1283_1285delAGG	10.37:g.21805476_21805478delCCT	ENSP00000410041:p.Glu428del					uc001iqp.1_RNA	p.E428del	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN			4	3536_3538	-			347	E -> EEE (in Ref. 2; BAD18601 and 4; CAD39106).		Ser-rich.|Glu-rich.		B1ANA5|Q6ZMX4|Q8N3C3	In_Frame_Del	DEL	ENST00000449193.2	37	c.1283_1285delAGG	CCDS44363.1																																																																																				0.616	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371	
SVIL	6840	broad.mit.edu	37	10	29784039	29784039	+	Missense_Mutation	SNP	C	C	T	rs552158750		TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr10:29784039C>T	ENST00000355867.4	-	19	4488	c.3736G>A	c.(3736-3738)Gtt>Att	p.V1246I	SVIL_ENST00000538146.1_Missense_Mutation_p.V38I|SVIL_ENST00000375398.2_Missense_Mutation_p.V1246I|SVIL_ENST00000535393.1_Missense_Mutation_p.V160I|SVIL_ENST00000375400.3_Missense_Mutation_p.V820I	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1246					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGTTTGGAAACGGGTGTGGTG	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		15606	0.0		0.0	False		,,,				2504	0.001					uc001iut.1																			0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(3736-3738)GTT>ATT		supervillin isoform 2																																				SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29784039C>T	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.3736G>A	10.37:g.29784039C>T	ENSP00000348128:p.Val1246Ile					SVIL_uc010qdw.1_Missense_Mutation_p.V160I|SVIL_uc001iuu.1_Missense_Mutation_p.V820I|SVIL_uc009xlc.2_Missense_Mutation_p.V38I	p.V1246I	NM_021738	NP_068506	O95425	SVIL_HUMAN			19	4489	-		Breast(68;0.103)	1246					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.3736G>A	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	9.189	1.025541	0.19512	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994;ENST00000538146	T;T;T;T;T	0.25749	2.74;2.79;2.79;2.56;1.78	4.37	3.38	0.38709	.	0.167292	0.52532	D	0.000067	T	0.18718	0.0449	L	0.39245	1.2	0.36845	D	0.887627	B;B;B;B	0.14012	0.002;0.002;0.009;0.002	B;B;B;B	0.15052	0.002;0.002;0.012;0.005	T	0.09552	-1.0669	10	0.18276	T	0.48	-15.4185	10.5229	0.44929	0.0:0.8396:0.0:0.1604	.	160;38;820;1246	F5H2Q5;F5GXV0;O95425-2;O95425	.;.;.;SVIL_HUMAN	I	820;1246;1246;160;200;38	ENSP00000364549:V820I;ENSP00000364547:V1246I;ENSP00000348128:V1246I;ENSP00000445472:V160I;ENSP00000440343:V38I	ENSP00000348128:V1246I	V	-	1	0	SVIL	29824045	0.924000	0.31332	0.994000	0.49952	0.901000	0.52897	1.235000	0.32671	2.267000	0.75376	0.485000	0.47835	GTT		0.552	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1		
PTEN	5728	broad.mit.edu	37	10	89692778	89692778	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr10:89692778T>C	ENST00000371953.3	+	5	1619	c.262T>C	c.(262-264)Tat>Cat	p.Y88H		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	88	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.Y88N(1)|p.Y88H(1)|p.Q87_P96del(1)|p.N82_P95del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGTTGCACAATATCCTTTTGA	0.338		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		54	Whole gene deletion(37)|Deletion - Frameshift(8)|Unknown(5)|Substitution - Missense(2)|Deletion - In frame(2)	p.Y88C(5)|p.R55fs*1(4)|p.?(2)|p.Y27fs*1(2)|p.Y88fs*3(2)|p.Y27_N212>Y(2)|p.Y88N(1)|p.Y88H(1)|p.Q87_P96del(1)|p.Y88S(1)|p.N82_P95del(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(11)|lung(6)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|ovary(4)|breast(3)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	GRCh37	CM032997	PTEN	M		c.(262-264)TAT>CAT		phosphatase and tensin homolog							108.0	98.0	102.0					10																	89692778		2203	4300	6503	SO:0001583	missense	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692778T>C	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.262T>C	10.37:g.89692778T>C	ENSP00000361021:p.Tyr88His	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.Y88H	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1293	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	88			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.262T>C	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.365402	0.82463	.	.	ENSG00000171862	ENST00000371953	D	0.98617	-5.03	5.07	5.07	0.68467	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99020	0.9665	M	0.84773	2.715	0.80722	D	1	D	0.76494	0.999	D	0.64877	0.93	D	0.99421	1.0933	9	.	.	.	-6.1498	14.8407	0.70220	0.0:0.0:0.0:1.0	.	88	P60484	PTEN_HUMAN	H	88	ENSP00000361021:Y88H	.	Y	+	1	0	PTEN	89682758	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.658000	0.83755	1.880000	0.54463	0.533000	0.62120	TAT		0.338	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
OR52E8	390079	broad.mit.edu	37	11	5878741	5878741	+	Silent	SNP	A	A	G			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr11:5878741A>G	ENST00000537935.1	-	1	223	c.192T>C	c.(190-192)ccT>ccC	p.P64P	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTAGTACATAGGCTCATGGA	0.458																																						uc010qzr.1																			0				skin(2)	2						c.(190-192)CCT>CCC		olfactory receptor, family 52, subfamily E,							120.0	139.0	133.0					11																	5878741		2149	4296	6445	SO:0001819	synonymous_variant	390079				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5878741A>G	BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"""GPCR / Class A : Olfactory receptors"""	15217	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily E, member 8 pseudogene"""				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.192T>C	11.37:g.5878741A>G						TRIM5_uc001mbq.1_Intron	p.P64P	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	192	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)	64			Helical; Name=2; (Potential).		B9EH38	Silent	SNP	ENST00000537935.1	37	c.192T>C	CCDS31400.1																																																																																				0.458	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	NM_001005168	
OR52E8	390079	broad.mit.edu	37	11	5878765	5878765	+	Silent	SNP	C	C	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr11:5878765C>T	ENST00000537935.1	-	1	199	c.168G>A	c.(166-168)caG>caA	p.Q56Q	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTGCTCAGTCTGGATCACAA	0.483																																						uc010qzr.1																			0				skin(2)	2						c.(166-168)CAG>CAA		olfactory receptor, family 52, subfamily E,							116.0	135.0	129.0					11																	5878765		2144	4296	6440	SO:0001819	synonymous_variant	390079				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5878765C>T	BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"""GPCR / Class A : Olfactory receptors"""	15217	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily E, member 8 pseudogene"""				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.168G>A	11.37:g.5878765C>T						TRIM5_uc001mbq.1_Intron	p.Q56Q	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	168	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)	56			Cytoplasmic (Potential).		B9EH38	Silent	SNP	ENST00000537935.1	37	c.168G>A	CCDS31400.1																																																																																				0.483	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	NM_001005168	
DCDC1	341019	broad.mit.edu	37	11	30974095	30974095	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr11:30974095C>T	ENST00000597505.1	-	19	2611	c.2612G>A	c.(2611-2613)gGa>gAa	p.G871E	DCDC1_ENST00000339794.5_5'UTR|DCDC1_ENST00000437348.1_Intron|DCDC1_ENST00000406071.2_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CTTACTGGTTCCTTCATGTTT	0.353																																						uc009yjk.1																			0											c.(955-957)GGA>GAA		RecName: Full=Doublecortin domain-containing protein 5;							138.0	120.0	126.0					11																	30974095		1846	4091	5937	SO:0001583	missense	0							g.chr11:30974095C>T	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.2612G>A	11.37:g.30974095C>T	ENSP00000472625:p.Gly871Glu					uc009yjl.1_Intron|DCDC1_uc001msu.1_Missense_Mutation_p.G490E	p.G319E							9	1025	-								A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000597505.1	37	c.956G>A																																																																																					0.353	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807	
SYT12	91683	broad.mit.edu	37	11	66797643	66797643	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr11:66797643C>A	ENST00000393946.2	+	5	1190	c.28C>A	c.(28-30)Ctg>Atg	p.L10M	SYT12_ENST00000527043.1_Missense_Mutation_p.L10M|SYT12_ENST00000525457.1_Missense_Mutation_p.L10M|SYT12_ENST00000526281.1_3'UTR			Q8IV01	SYT12_HUMAN	synaptotagmin XII	10						cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|synapse (GO:0045202)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						AGAATACCATCTGAGCGGTGA	0.567																																					Ovarian(65;2862 3307)	uc009yrl.2																			0				ovary(1)	1						c.(28-30)CTG>ATG		synaptotagmin XII							136.0	109.0	118.0					11																	66797643		2200	4295	6495	SO:0001583	missense	91683					cell junction|integral to membrane|synaptic vesicle membrane		g.chr11:66797643C>A	AK024280	CCDS8154.1	11q13.2	2014-07-02			ENSG00000173227	ENSG00000173227		"""Synaptotagmins"""	18381	protein-coding gene	gene with protein product		606436				8987811	Standard	NM_177963		Approved	SRG1	uc001oju.3	Q8IV01	OTTHUMG00000167101	ENST00000393946.2:c.28C>A	11.37:g.66797643C>A	ENSP00000377520:p.Leu10Met					SYT12_uc001oju.2_Missense_Mutation_p.L10M	p.L10M	NM_177963	NP_808878	Q8IV01	SYT12_HUMAN			2	258	+			10			Vesicular (Potential).			Missense_Mutation	SNP	ENST00000393946.2	37	c.28C>A	CCDS8154.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.778299	0.49786	.	.	ENSG00000173227	ENST00000393946;ENST00000525457;ENST00000527043;ENST00000533427	T;T;T	0.13196	2.61;2.61;2.61	4.23	3.32	0.38043	.	0.334216	0.25032	N	0.033671	T	0.09247	0.0228	N	0.24115	0.695	0.43355	D	0.995429	B	0.32693	0.38	B	0.32533	0.147	T	0.16748	-1.0392	10	0.66056	D	0.02	.	7.8939	0.29695	0.0:0.8865:0.0:0.1135	.	10	Q8IV01	SYT12_HUMAN	M	10	ENSP00000377520:L10M;ENSP00000431400:L10M;ENSP00000435316:L10M	ENSP00000377520:L10M	L	+	1	2	SYT12	66554219	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	1.836000	0.39191	1.001000	0.39076	0.655000	0.94253	CTG		0.567	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393129.1	NM_177963	
KDM5A	5927	broad.mit.edu	37	12	416979	416979	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr12:416979G>A	ENST00000399788.2	-	23	3933	c.3571C>T	c.(3571-3573)Ctt>Ttt	p.L1191F	KDM5A_ENST00000382815.4_Missense_Mutation_p.L1191F	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1191					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GATTTAGGAAGAGGAACACAG	0.443			T	NUP98	AML																																	uc001qif.1				Dom	yes		12	12p11	5927	T 	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		0				skin(2)|ovary(1)	3						c.(3571-3573)CTT>TTT		retinoblastoma binding protein 2 isoform 1							131.0	126.0	127.0					12																	416979		1928	4130	6058	SO:0001583	missense	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:416979G>A		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.3571C>T	12.37:g.416979G>A	ENSP00000382688:p.Leu1191Phe					KDM5A_uc001qie.1_Missense_Mutation_p.L1191F	p.L1191F	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN			23	3934	-			1191			PHD-type 2.		A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	c.3571C>T	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.591270	0.46214	.	.	ENSG00000073614	ENST00000399788;ENST00000382815	D;D	0.86297	-2.1;-2.1	5.52	4.63	0.57726	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.87354	0.6156	M	0.83852	2.665	0.51482	D	0.999924	B;B	0.27594	0.182;0.151	B;B	0.29440	0.102;0.091	D	0.84139	0.0416	10	0.19147	T	0.46	-13.9624	14.5863	0.68328	0.0705:0.0:0.9295:0.0	.	1191;1191	P29375;P29375-2	KDM5A_HUMAN;.	F	1191	ENSP00000382688:L1191F;ENSP00000372265:L1191F	ENSP00000372265:L1191F	L	-	1	0	KDM5A	287240	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	6.591000	0.74090	1.464000	0.47987	0.585000	0.79938	CTT		0.443	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056	
TNFRSF1A	7132	broad.mit.edu	37	12	6442637	6442637	+	Missense_Mutation	SNP	G	G	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr12:6442637G>T	ENST00000162749.2	-	4	667	c.368C>A	c.(367-369)aCc>aAc	p.T123N	TNFRSF1A_ENST00000366159.4_Missense_Mutation_p.T123N|TNFRSF1A_ENST00000437813.3_5'UTR|TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.T80N	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	123					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						GCCACACACGGTGTCCCGGTC	0.552																																						uc001qnu.2																			0				lung(2)|skin(1)	3						c.(367-369)ACC>AAC		tumor necrosis factor receptor 1 precursor							93.0	89.0	91.0					12																	6442637		2203	4300	6503	SO:0001583	missense	7132				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity	g.chr12:6442637G>T	M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.368C>A	12.37:g.6442637G>T	ENSP00000162749:p.Thr123Asn					TNFRSF1A_uc001qnt.2_Missense_Mutation_p.T15N|TNFRSF1A_uc010sey.1_Intron|TNFRSF1A_uc010sez.1_Missense_Mutation_p.T15N|TNFRSF1A_uc009zek.2_Missense_Mutation_p.T80N|TNFRSF1A_uc010sfa.1_Missense_Mutation_p.T123N	p.T123N	NM_001065	NP_001056	P19438	TNR1A_HUMAN			4	649	-			123			TNFR-Cys 2.|Extracellular (Potential).		A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Missense_Mutation	SNP	ENST00000162749.2	37	c.368C>A	CCDS8542.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241053	0.79912	.	.	ENSG00000067182	ENST00000162749;ENST00000540022;ENST00000539372;ENST00000366159;ENST00000440083;ENST00000536194	D;D;D;D;D;D	0.96587	-4.06;-4.06;-4.06;-4.06;-4.06;-4.06	5.06	5.06	0.68205	TNFR/CD27/30/40/95 cysteine-rich region (4);	0.055450	0.64402	D	0.000001	D	0.98065	0.9362	M	0.84326	2.69	0.50813	D	0.999898	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.98866	1.0764	10	0.66056	D	0.02	-22.9914	15.9028	0.79397	0.0:0.0:1.0:0.0	.	123;80;123	B5M0B5;F5H061;P19438	.;.;TNR1A_HUMAN	N	123;80;123;123;123;114	ENSP00000162749:T123N;ENSP00000438343:T80N;ENSP00000442059:T123N;ENSP00000380389:T123N;ENSP00000413224:T123N;ENSP00000442919:T114N	ENSP00000162749:T123N	T	-	2	0	TNFRSF1A	6312898	1.000000	0.71417	0.903000	0.35520	0.941000	0.58515	5.750000	0.68712	2.341000	0.79615	0.561000	0.74099	ACC		0.552	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399038.1	NM_001065	
ART4	420	broad.mit.edu	37	12	14993552	14993552	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr12:14993552G>A	ENST00000228936.4	-	2	1061	c.680C>T	c.(679-681)aCc>aTc	p.T227I	C12orf60_ENST00000527783.1_Intron|RP11-233G1.4_ENST00000444324.2_RNA	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4 (Dombrock blood group)	227					arginine metabolic process (GO:0006525)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						GGTGAATATGGTAAATAGTGT	0.463																																						uc001rcl.1																			0					0						c.(679-681)ACC>ATC		ADP-ribosyltransferase 4 precursor							113.0	114.0	113.0					12																	14993552		2203	4300	6503	SO:0001583	missense	420				arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity	g.chr12:14993552G>A	X95826	CCDS8668.1	12q13.2-q13.3	2014-07-18	2014-01-02	2006-01-12	ENSG00000111339	ENSG00000111339		"""CD molecules"", ""Blood group antigens"""	726	protein-coding gene	gene with protein product		110600	"""Dombrock blood group"", ""ADP-ribosyltransferase 4 (DO blood group)"", ""ADP-ribosyltransferase 4"""	DO		9119374	Standard	NM_021071		Approved	DOK1, CD297	uc001rcl.1	Q93070	OTTHUMG00000168738	ENST00000228936.4:c.680C>T	12.37:g.14993552G>A	ENSP00000228936:p.Thr227Ile					ART4_uc009zid.1_Intron|ART4_uc009zie.1_Intron|ART4_uc001rcm.1_Missense_Mutation_p.T227I	p.T227I	NM_021071	NP_066549	Q93070	NAR4_HUMAN			2	1046	-			227					Q9BZ50|Q9BZ51|Q9HB06	Missense_Mutation	SNP	ENST00000228936.4	37	c.680C>T	CCDS8668.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.804597	0.31869	.	.	ENSG00000111339	ENST00000228936;ENST00000420600	T;T	0.08807	3.05;3.05	4.35	4.35	0.52113	.	0.167640	0.53938	D	0.000054	T	0.24275	0.0588	M	0.72479	2.2	0.29068	N	0.883453	D;D	0.67145	0.996;0.992	D;D	0.70716	0.97;0.97	T	0.01202	-1.1420	10	0.66056	D	0.02	-0.0661	10.6648	0.45723	0.0:0.1938:0.8062:0.0	.	227;227	A8K6J7;Q93070	.;NAR4_HUMAN	I	227;210	ENSP00000228936:T227I;ENSP00000405689:T210I	ENSP00000228936:T227I	T	-	2	0	ART4	14884819	1.000000	0.71417	0.990000	0.47175	0.111000	0.19643	1.361000	0.34136	2.716000	0.92895	0.563000	0.77884	ACC		0.463	ART4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400859.1	NM_021071	
KRT73	319101	broad.mit.edu	37	12	53011874	53011874	+	Silent	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr12:53011874G>A	ENST00000305748.3	-	1	469	c.435C>T	c.(433-435)tcC>tcT	p.S145S	RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	145	Coil 1A.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTCAATGAAGGAGGCGAACT	0.547																																						uc001sas.2																			0				large_intestine(2)|ovary(2)|skin(2)	6						c.(433-435)TCC>TCT		keratin 73							121.0	120.0	120.0					12																	53011874		2203	4300	6503	SO:0001819	synonymous_variant	319101					keratin filament	structural molecule activity	g.chr12:53011874G>A	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.435C>T	12.37:g.53011874G>A							p.S145S	NM_175068	NP_778238	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	470	-			145			Coil 1A.|Rod.		Q32MB2	Silent	SNP	ENST00000305748.3	37	c.435C>T	CCDS8834.1																																																																																				0.547	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068	
LRP1	4035	broad.mit.edu	37	12	57581169	57581169	+	Nonsense_Mutation	SNP	G	G	T	rs367854676		TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr12:57581169G>T	ENST00000243077.3	+	42	7427	c.6961G>T	c.(6961-6963)Gag>Tag	p.E2321*		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2321					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGGGGCCTTCGAGCGTGAGAC	0.607																																						uc001snd.2																			0				ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(6961-6963)GAG>TAG		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						84.0	76.0	78.0					12																	57581169		2203	4300	6503	SO:0001587	stop_gained	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57581169G>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.6961G>T	12.37:g.57581169G>T	ENSP00000243077:p.Glu2321*						p.E2321*	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	42	7427	+			2321			LDL-receptor class B 22.|Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Nonsense_Mutation	SNP	ENST00000243077.3	37	c.6961G>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	51	18.327994	0.99903	.	.	ENSG00000123384	ENST00000243077	.	.	.	4.39	4.39	0.52855	.	0.155040	0.40818	N	0.001014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	16.2444	0.82434	0.0:0.0:1.0:0.0	.	.	.	.	X	2321	.	ENSP00000243077:E2321X	E	+	1	0	LRP1	55867436	1.000000	0.71417	0.966000	0.40874	0.905000	0.53344	3.941000	0.56607	2.433000	0.82419	0.655000	0.94253	GAG		0.607	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332	
LRIG3	121227	broad.mit.edu	37	12	59274532	59274532	+	Silent	SNP	A	A	G			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr12:59274532A>G	ENST00000320743.3	-	13	1918	c.1632T>C	c.(1630-1632)gcT>gcC	p.A544A	LRIG3_ENST00000379141.4_Silent_p.A484A	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	544	Ig-like C2-type 1.				otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TTTCCATTTCAGCATCATGCA	0.488			T	ROS1	NSCLC																																	uc001sqr.2				Dom	yes		12	12q14.1	121227		leucine-rich repeats and immunoglobulin-like domains 3			E					0				skin(3)|ovary(1)	4						c.(1630-1632)GCT>GCC		leucine-rich repeats and immunoglobulin-like							163.0	142.0	149.0					12																	59274532		2203	4300	6503	SO:0001819	synonymous_variant	121227					integral to membrane		g.chr12:59274532A>G	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.1632T>C	12.37:g.59274532A>G						LRIG3_uc009zqh.2_Silent_p.A484A|LRIG3_uc010ssh.1_RNA	p.A544A	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		13	1878	-			544			Ig-like C2-type 1.		Q6UXL7|Q8NC72	Silent	SNP	ENST00000320743.3	37	c.1632T>C	CCDS8960.1																																																																																				0.488	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377	
TPTE2	93492	broad.mit.edu	37	13	20039688	20039688	+	Nonsense_Mutation	SNP	G	G	A	rs538397448		TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr13:20039688G>A	ENST00000400230.2	-	8	573	c.529C>T	c.(529-531)Cga>Tga	p.R177*	TPTE2_ENST00000255310.6_Nonsense_Mutation_p.R100*|TPTE2_ENST00000390680.2_Nonsense_Mutation_p.R100*|TPTE2_ENST00000457266.2_Nonsense_Mutation_p.R66*|TPTE2_ENST00000382977.4_Nonsense_Mutation_p.R177*|TPTE2_ENST00000382978.1_Nonsense_Mutation_p.R137*|TPTE2_ENST00000400103.2_Nonsense_Mutation_p.R66*|TPTE2_ENST00000382975.4_Nonsense_Mutation_p.R137*			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	177					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGTAGAAGTCGAACTAAATGT	0.313													g|||	1	0.000199681	0.0	0.0	5008	,	,		18530	0.001		0.0	False		,,,				2504	0.0					uc001umd.2																			0					0						c.(529-531)CGA>TGA		TPTE and PTEN homologous inositol lipid							35.0	34.0	34.0					13																	20039688		2199	4299	6498	SO:0001587	stop_gained	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20039688G>A	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.529C>T	13.37:g.20039688G>A	ENSP00000383089:p.Arg177*					TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Nonsense_Mutation_p.R66*|TPTE2_uc001ume.2_Nonsense_Mutation_p.R100*|TPTE2_uc009zzm.2_5'UTR|TPTE2_uc010tcm.1_RNA	p.R177*	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	9	740	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	177					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Nonsense_Mutation	SNP	ENST00000400230.2	37	c.529C>T	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	g	22.4	4.291005	0.80914	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	.	.	.	2.79	2.79	0.32731	.	0.072865	0.56097	U	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.7066	9.2507	0.37554	0.0:0.0:1.0:0.0	.	.	.	.	X	137;66;177;100;100;177;137;66;177;46	.	.	R	-	1	2	TPTE2	18937688	0.009000	0.17119	0.002000	0.10522	0.006000	0.05464	1.476000	0.35420	1.846000	0.53633	0.467000	0.42956	CGA		0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254	
MPHOSPH8	54737	broad.mit.edu	37	13	20235946	20235946	+	Missense_Mutation	SNP	G	G	A	rs376405101		TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr13:20235946G>A	ENST00000361479.5	+	8	1968	c.1900G>A	c.(1900-1902)Ggg>Agg	p.G634R	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.G634R	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	634					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		GCAGAAGAACGGGACCACCGC	0.552																																						uc001umh.2																			0					0						c.(1900-1902)GGG>AGG		M-phase phosphoprotein 8		G	ARG/GLY	0,4406		0,0,2203	97.0	90.0	92.0		1900	6.1	0.8	13		92	1,8599	1.2+/-3.3	0,1,4299	no	missense	MPHOSPH8	NM_017520.3	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	634/861	20235946	1,13005	2203	4300	6503	SO:0001583	missense	54737				cell cycle	cytoplasm|nucleus		g.chr13:20235946G>A	AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"""Ankyrin repeat domain containing"""	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.1900G>A	13.37:g.20235946G>A	ENSP00000355388:p.Gly634Arg					MPHOSPH8_uc001umg.2_Missense_Mutation_p.G634R	p.G634R	NM_017520	NP_059990	Q99549	MPP8_HUMAN		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)	8	1909	+		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)	634			ANK 2.		B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	ENST00000361479.5	37	c.1900G>A	CCDS9287.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647234	0.87958	0.0	1.16E-4	ENSG00000196199	ENST00000414242;ENST00000361479	T;T	0.79247	-1.25;-1.25	6.08	6.08	0.98989	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.89458	0.6721	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89456	0.3733	10	0.87932	D	0	.	20.2672	0.98462	0.0:0.0:1.0:0.0	.	634;634	Q99549;Q99549-2	MPP8_HUMAN;.	R	634	ENSP00000414663:G634R;ENSP00000355388:G634R	ENSP00000355388:G634R	G	+	1	0	MPHOSPH8	19133946	1.000000	0.71417	0.800000	0.32199	0.425000	0.31504	9.189000	0.94928	2.894000	0.99253	0.591000	0.81541	GGG		0.552	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2	NM_017520	
NALCN	259232	broad.mit.edu	37	13	101728226	101728226	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr13:101728226G>A	ENST00000251127.6	-	35	4033	c.3952C>T	c.(3952-3954)Cat>Tat	p.H1318Y		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1318					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTACTTACATGTTTTCCACAG	0.323																																						uc001vox.1																			0				ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(3952-3954)CAT>TAT		voltage gated channel like 1							102.0	99.0	100.0					13																	101728226		2203	4296	6499	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101728226G>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3952C>T	13.37:g.101728226G>A	ENSP00000251127:p.His1318Tyr						p.H1318Y	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			35	4141	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1318			Cytoplasmic (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.3952C>T	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588393	0.86851	.	.	ENSG00000102452	ENST00000251127	D	0.98419	-4.92	5.93	5.93	0.95920	Ion transport (1);	0.044474	0.85682	D	0.000000	D	0.98858	0.9614	M	0.75447	2.3	0.80722	D	1	D	0.71674	0.998	D	0.70227	0.968	D	0.99441	1.0938	10	0.56958	D	0.05	.	20.3422	0.98769	0.0:0.0:1.0:0.0	.	1318	Q8IZF0	NALCN_HUMAN	Y	1318	ENSP00000251127:H1318Y	ENSP00000251127:H1318Y	H	-	1	0	NALCN	100526227	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	9.471000	0.97696	2.810000	0.96702	0.655000	0.94253	CAT		0.323	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	
OR4Q3	441669	broad.mit.edu	37	14	20215929	20215930	+	Missense_Mutation	DNP	TT	TT	AG	rs138558904	byFrequency	TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr14:20215929_20215930TT>AG	ENST00000331723.1	+	1	343_344	c.343_344TT>AG	c.(343-345)TTg>AGg	p.L115R		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGAGATGTTTTTGCTGACAGTC	0.495																																						uc010tkt.1																			0				breast(3)	3						c.(343-345)TTG>AGG		olfactory receptor, family 4, subfamily Q,																																				SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20215929_20215930TT>AG	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		Exception_encountered	14.37:g.20215929_20215930delinsAG	ENSP00000330049:p.Leu115Arg						p.L115R	NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	343_344	+	all_cancers(95;0.00108)		115			Helical; Name=3; (Potential).		Q6IEX4	Missense_Mutation	DNP	ENST00000331723.1	37	c.343_344TT>AG	CCDS32020.1																																																																																				0.495	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2		
BATF	10538	broad.mit.edu	37	14	76012841	76012841	+	Missense_Mutation	SNP	C	C	T	rs559944973		TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr14:76012841C>T	ENST00000286639.6	+	3	463	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	BATF_ENST00000555504.1_Intron|BATF_ENST00000555795.1_3'UTR	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN	basic leucine zipper transcription factor, ATF-like	69	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hematopoietic stem cell differentiation (GO:0060218)|isotype switching (GO:0045190)|lymphoid progenitor cell differentiation (GO:0002320)|myeloid dendritic cell differentiation (GO:0043011)|T-helper 17 cell differentiation (GO:0072539)|T-helper 17 cell lineage commitment (GO:0072540)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		CGCGGCTCTACGCAAGGAGAT	0.612																																						uc001xrr.2																			0				ovary(1)	1						c.(205-207)CGC>TGC		basic leucine zipper transcription factor,							72.0	57.0	62.0					14																	76012841		2203	4300	6503	SO:0001583	missense	10538					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:76012841C>T	AF016898	CCDS9843.1	14q24	2013-01-10				ENSG00000156127		"""basic leucine zipper proteins"""	958	protein-coding gene	gene with protein product	"""activating transcription factor B"", ""SF-HT-activated gene 2"""	612476				8570175, 8630063	Standard	NM_006399		Approved	B-ATF, SFA-2, BATF1	uc001xrr.3	Q16520		ENST00000286639.6:c.205C>T	14.37:g.76012841C>T	ENSP00000286639:p.Arg69Cys						p.R69C	NM_006399	NP_006390	Q16520	BATF_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.028)	3	447	+			69			Leucine-zipper.			Missense_Mutation	SNP	ENST00000286639.6	37	c.205C>T	CCDS9843.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269726	0.80469	.	.	ENSG00000156127	ENST00000286639	T	0.59083	0.29	5.61	4.7	0.59300	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	T	0.76550	0.4003	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.80336	-0.1425	10	0.87932	D	0	-13.0002	14.1132	0.65137	0.1505:0.8495:0.0:0.0	.	69	Q16520	BATF_HUMAN	C	69	ENSP00000286639:R69C	ENSP00000286639:R69C	R	+	1	0	BATF	75082594	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.333000	0.59285	1.330000	0.45394	0.655000	0.94253	CGC		0.612	BATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413669.1	NM_006399	
HEATR3	55027	broad.mit.edu	37	16	50112858	50112858	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr16:50112858G>C	ENST00000299192.7	+	7	1161	c.970G>C	c.(970-972)Gat>Cat	p.D324H	HEATR3_ENST00000285767.4_Missense_Mutation_p.D238H	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	324										cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TTTGATTGAAGATGATGAAAT	0.368																																						uc002efw.2																			0				ovary(1)|skin(1)	2						c.(970-972)GAT>CAT		HEAT repeat containing 3							81.0	86.0	84.0					16																	50112858		2198	4300	6498	SO:0001583	missense	55027						binding	g.chr16:50112858G>C	BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.970G>C	16.37:g.50112858G>C	ENSP00000299192:p.Asp324His					HEATR3_uc002efx.2_Missense_Mutation_p.D238H	p.D324H	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN			7	1132	+			324					A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Missense_Mutation	SNP	ENST00000299192.7	37	c.970G>C	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.873791	0.72180	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.31510	1.49;1.49	5.54	4.59	0.56863	Armadillo-type fold (1);	0.248172	0.45606	D	0.000358	T	0.49558	0.1564	M	0.67953	2.075	0.46954	D	0.999264	D;D	0.69078	0.994;0.997	P;P	0.60236	0.871;0.754	T	0.53851	-0.8380	10	0.62326	D	0.03	.	14.4479	0.67364	0.0707:0.0:0.9293:0.0	.	238;324	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	H	238;324	ENSP00000285767:D238H;ENSP00000299192:D324H	ENSP00000285767:D238H	D	+	1	0	HEATR3	48670359	1.000000	0.71417	0.698000	0.30274	0.988000	0.76386	5.735000	0.68587	1.477000	0.48234	0.551000	0.68910	GAT		0.368	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	NM_182922	
SLC12A3	6559	broad.mit.edu	37	16	56904089	56904089	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr16:56904089C>T	ENST00000563236.1	+	5	708	c.683C>T	c.(682-684)gCc>gTc	p.A228V	SLC12A3_ENST00000438926.2_Missense_Mutation_p.A228V|SLC12A3_ENST00000262502.5_Missense_Mutation_p.A227V|SLC12A3_ENST00000566786.1_Missense_Mutation_p.A227V			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	228					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TTCGCCAATGCCGTGGGTGTG	0.662																																						uc010ccm.2																			0				ovary(2)|breast(1)	3						c.(682-684)GCC>GTC		solute carrier family 12, member 3 isoform 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						61.0	60.0	60.0					16																	56904089		2198	4300	6498	SO:0001583	missense	6559				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56904089C>T		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.683C>T	16.37:g.56904089C>T	ENSP00000456149:p.Ala228Val					SLC12A3_uc002ekd.3_Missense_Mutation_p.A228V|SLC12A3_uc010ccn.2_Missense_Mutation_p.A227V	p.A228V	NM_001126108	NP_001119580	P55017	S12A3_HUMAN			5	712	+			228			Helical; (Potential).		A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	37	c.683C>T	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057590	0.76074	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.39	5.39	0.77823	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	T	0.76962	0.4061	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	0.984;1.0;1.0	P;D;D	0.85130	0.828;0.997;0.994	T	0.78201	-0.2296	9	0.66056	D	0.02	.	19.1895	0.93658	0.0:1.0:0.0:0.0	.	227;228;228	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	V	227;228	.	ENSP00000262502:A228V	A	+	2	0	SLC12A3	55461590	1.000000	0.71417	0.503000	0.27626	0.011000	0.07611	7.728000	0.84847	2.526000	0.85167	0.563000	0.77884	GCC		0.662	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1		
ZC3H18	124245	broad.mit.edu	37	16	88688690	88688690	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr16:88688690C>T	ENST00000301011.5	+	9	1761	c.1561C>T	c.(1561-1563)Cga>Tga	p.R521*	ZC3H18_ENST00000452588.2_Nonsense_Mutation_p.R545*	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	521						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R521*(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCCTTGGCGCCGATCCAAGTC	0.602																																					Ovarian(121;375 2276 20373 38669)	uc002fky.2																			1	Substitution - Nonsense(1)		haematopoietic_and_lymphoid_tissue(1)	skin(1)	1						c.(1561-1563)CGA>TGA		zinc finger CCCH-type containing 18							54.0	56.0	55.0					16																	88688690		2198	4300	6498	SO:0001587	stop_gained	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88688690C>T	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1561C>T	16.37:g.88688690C>T	ENSP00000301011:p.Arg521*					ZC3H18_uc010voz.1_Nonsense_Mutation_p.R545*|ZC3H18_uc010chw.2_RNA	p.R521*	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	9	1761	+			521					Q96DG4|Q96MP7	Nonsense_Mutation	SNP	ENST00000301011.5	37	c.1561C>T	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	C	41	9.031677	0.99042	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.022	19.7135	0.96105	0.0:1.0:0.0:0.0	.	.	.	.	X	521;489;545	.	ENSP00000289509:R489X	R	+	1	2	ZC3H18	87216191	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.482000	0.66833	2.769000	0.95229	0.655000	0.94253	CGA		0.602	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604	
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> 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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	uc002gim.2	R273H(NCIH1793_LUNG)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PANC1_PANCREAS)|R273H(NCIH508_LARGE_INTESTINE)|R273H(NCIH1975_LUNG)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(NCIH2405_LUNG)|R273H(HEC59_ENDOMETRIUM)|R273H(NCIH1155_LUNG)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(EN_ENDOMETRIUM)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(MDAMB468_BREAST)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW620_LARGE_INTESTINE)|R273H(SUIT2_PANCREAS)|R273H(SW480_LARGE_INTESTINE)|R273H(SKMEL30_SKIN)|R273H(OC314_OVARY)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)	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		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(469)|p.R273C(394)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(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	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)CGT>CAT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							67.0	58.0	61.0					17																	7577120		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.chr17:7577120C>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.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His	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_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H	p.R273H	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1012	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|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.818G>A	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	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	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
KRT16	3868	broad.mit.edu	37	17	39766792	39766792	+	Silent	SNP	C	C	T	rs375085095		TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr17:39766792C>T	ENST00000301653.4	-	6	1135	c.1071G>A	c.(1069-1071)ctG>ctA	p.L357L		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	357	Coil 2.|Rod.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				GGCTGTTCTCCAGGGATGCTT	0.557																																						uc002hxg.3																			0				skin(1)	1						c.(1069-1071)CTG>CTA		keratin 16		C		1,4405		0,1,2202	39.0	39.0	39.0		1071	4.3	1.0	17		39	0,8600		0,0,4300	no	coding-synonymous	KRT16	NM_005557.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		357/474	39766792	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3868				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39766792C>T	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6423	protein-coding gene	gene with protein product	"""focal non-epidermolytic palmoplantar keratoderma"""	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.1071G>A	17.37:g.39766792C>T						JUP_uc010wfs.1_Intron	p.L357L	NM_005557	NP_005548	P08779	K1C16_HUMAN			6	1210	-		Breast(137;0.000307)	357			Rod.|Coil 2.		A8K488|P30654|Q16402|Q9UBG8	Silent	SNP	ENST00000301653.4	37	c.1071G>A	CCDS11401.1																																																																																				0.557	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	NM_005557	
NDC80	10403	broad.mit.edu	37	18	2610820	2610820	+	Missense_Mutation	SNP	G	G	A	rs144795559		TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr18:2610820G>A	ENST00000261597.4	+	16	1933	c.1751G>A	c.(1750-1752)cGt>cAt	p.R584H		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	584	Interaction with NEK2 and ZWINT.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						AACTTGCAACGTCTGTTAGAG	0.373																																						uc002kli.2																			0				ovary(1)	1						c.(1750-1752)CGT>CAT		kinetochore associated 2		G	HIS/ARG	0,4406		0,0,2203	181.0	161.0	168.0		1751	2.7	1.0	18	dbSNP_134	168	1,8599	1.2+/-3.3	0,1,4299	no	missense	NDC80	NM_006101.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	584/643	2610820	1,13005	2203	4300	6503	SO:0001583	missense	10403				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding	g.chr18:2610820G>A	AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"""highly expressed in cancer, rich in leucine heptad repeats (yeast)"", ""kinetochore associated 2"", ""NDC80 kinetochore complex component homolog (S. cerevisiae)"""	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.1751G>A	18.37:g.2610820G>A	ENSP00000261597:p.Arg584His						p.R584H	NM_006101	NP_006092	O14777	NDC80_HUMAN			16	1933	+			584			Potential.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.|Interaction with NEK2 and ZWINT.		Q6PJX2	Missense_Mutation	SNP	ENST00000261597.4	37	c.1751G>A	CCDS11827.1	.	.	.	.	.	.	.	.	.	.	G	9.692	1.152194	0.21371	0.0	1.16E-4	ENSG00000080986	ENST00000261597	T	0.55413	0.52	5.43	2.65	0.31530	.	0.261575	0.46442	D	0.000297	T	0.46600	0.1401	L	0.60455	1.87	0.38175	D	0.939444	B	0.14012	0.009	B	0.08055	0.003	T	0.48811	-0.9002	10	0.51188	T	0.08	-1.1929	10.505	0.44828	0.2198:0.0:0.7802:0.0	.	584	O14777	NDC80_HUMAN	H	584	ENSP00000261597:R584H	ENSP00000261597:R584H	R	+	2	0	NDC80	2600820	1.000000	0.71417	1.000000	0.80357	0.388000	0.30384	3.066000	0.50002	0.674000	0.31244	-0.806000	0.03193	CGT		0.373	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254327.1	NM_006101	
C19orf25	148223	broad.mit.edu	37	19	1482471	1482471	+	5'Flank	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr19:1482471G>A	ENST00000436106.2	-	0	0				CTB-25B13.6_ENST00000585643.1_RNA|PCSK4_ENST00000300954.5_Missense_Mutation_p.T567M			Q9UFG5	CS025_HUMAN	chromosome 19 open reading frame 25														Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGTACAACGTCCCTGGACA	0.687																																						uc002ltb.1																			0					0						c.(1699-1701)ACG>ATG		proprotein convertase subtilisin/kexin type 4							33.0	36.0	35.0					19																	1482471		2202	4300	6502	SO:0001631	upstream_gene_variant	54760				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr19:1482471G>A	AK075267	CCDS45898.1	19p13.3	2012-10-24			ENSG00000119559	ENSG00000119559			26711	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_152482		Approved	FLJ36666	uc010dsk.3	Q9UFG5	OTTHUMG00000180092		19.37:g.1482471G>A	Exception_encountered					PCSK4_uc002lsz.2_Missense_Mutation_p.T54M|PCSK4_uc002lta.2_Silent_p.D337D	p.T567M	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	1762	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	567					B3KQN6|Q8N9R7|Q8WV94	Missense_Mutation	SNP	ENST00000436106.2	37	c.1700C>T	CCDS45898.1	.	.	.	.	.	.	.	.	.	.	g	5.686	0.311096	0.10789	.	.	ENSG00000115257	ENST00000300954	T	0.78364	-1.17	4.33	-0.616	0.11583	Proprotein convertase, P (1);Galactose-binding domain-like (1);	0.871673	0.09708	N	0.766029	T	0.70692	0.3253	M	0.76002	2.32	0.21861	N	0.999503	B	0.29253	0.239	B	0.20184	0.028	T	0.60459	-0.7259	10	0.45353	T	0.12	.	4.8899	0.13722	0.2172:0.0:0.612:0.1708	.	567	Q6UW60	PCSK4_HUMAN	M	567	ENSP00000300954:T567M	ENSP00000300954:T567M	T	-	2	0	PCSK4	1433471	0.000000	0.05858	0.998000	0.56505	0.324000	0.28378	-0.557000	0.05985	0.387000	0.25024	-1.352000	0.01234	ACG		0.687	C19orf25-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449694.1	NM_152482	
GPATCH1	55094	broad.mit.edu	37	19	33579113	33579113	+	Frame_Shift_Del	DEL	C	C	-	rs370166798		TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr19:33579113delC	ENST00000170564.2	+	2	461	c.147delC	c.(145-147)ttcfs	p.F49fs		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	49					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					ATAAACGATTCCACGGGGCCT	0.358																																					Pancreas(67;88 1713 4567 18227)	uc002nug.1																			0				skin(1)	1						c.(145-147)TTCfs		G patch domain containing 1							90.0	94.0	93.0					19																	33579113		2203	4300	6503	SO:0001589	frameshift_variant	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33579113delC	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.147delC	19.37:g.33579113delC	ENSP00000170564:p.Phe49fs						p.F49fs	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN			2	461	+	Esophageal squamous(110;0.137)		49					Q8IZV6|Q8N3B7|Q9NW94	Frame_Shift_Del	DEL	ENST00000170564.2	37	c.147delC	CCDS12428.1																																																																																				0.358	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025	
PSG11	5680	broad.mit.edu	37	19	43523198	43523198	+	Missense_Mutation	SNP	C	C	G			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr19:43523198C>G	ENST00000401740.1	-	3	536	c.433G>C	c.(433-435)Gag>Cag	p.E145Q	PSG11_ENST00000403486.1_Missense_Mutation_p.E23Q|PSG11_ENST00000320078.7_Missense_Mutation_p.E145Q|PSG11_ENST00000306322.7_Missense_Mutation_p.E23Q|PSG11_ENST00000595312.1_5'UTR			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	145					female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.E145*(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TTGGGAGTCTCCACTGTGCAG	0.507																																						uc002ovm.1																			2	Substitution - Nonsense(2)		lung(2)		0						c.(433-435)GAG>CAG		pregnancy specific beta-1-glycoprotein 11							131.0	137.0	135.0					19																	43523198		2199	4294	6493	SO:0001583	missense	5680				female pregnancy	extracellular region		g.chr19:43523198C>G	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9516	protein-coding gene	gene with protein product	"""pregnancy specific beta-1-glycoprotein 13"""	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.433G>C	19.37:g.43523198C>G	ENSP00000384995:p.Glu145Gln					PSG11_uc002ouw.2_Missense_Mutation_p.E151Q|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.E151Q|PSG11_uc002ovn.1_Missense_Mutation_p.E151Q|PSG11_uc002ovo.1_Missense_Mutation_p.E23Q|PSG11_uc002ovp.1_Missense_Mutation_p.E23Q	p.E145Q	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN			3	540	-		Prostate(69;0.00682)	145					B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	37	c.433G>C	CCDS12614.2	.	.	.	.	.	.	.	.	.	.	c	11.44	1.638456	0.29157	.	.	ENSG00000243130	ENST00000320078;ENST00000403486;ENST00000306322;ENST00000401740	T;T;T;T	0.35421	1.31;2.45;2.45;1.31	1.13	1.13	0.20643	Immunoglobulin subtype (1);	.	.	.	.	T	0.56232	0.1971	M	0.85777	2.775	0.09310	N	1	P;P	0.43314	0.803;0.553	P;P	0.60068	0.868;0.638	T	0.44360	-0.9333	9	0.66056	D	0.02	.	5.5559	0.17115	0.0:1.0:0.0:0.0	.	23;145	Q9UQ72-2;Q9UQ72	.;PSG11_HUMAN	Q	145;23;23;145	ENSP00000319140:E145Q;ENSP00000385427:E23Q;ENSP00000304913:E23Q;ENSP00000384995:E145Q	ENSP00000304913:E23Q	E	-	1	0	PSG11	48215038	0.000000	0.05858	0.013000	0.15412	0.098000	0.18820	0.014000	0.13333	0.567000	0.29293	0.184000	0.17185	GAG		0.507	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785	
MAP4K3	8491	broad.mit.edu	37	2	39515367	39515367	+	Nonsense_Mutation	SNP	C	C	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr2:39515367C>A	ENST00000263881.3	-	20	1693	c.1369G>T	c.(1369-1371)Gga>Tga	p.G457*	MAP4K3_ENST00000536018.1_Nonsense_Mutation_p.G10*|MAP4K3_ENST00000474502.1_5'Flank|MAP4K3_ENST00000437545.1_Nonsense_Mutation_p.G373*|MAP4K3_ENST00000341681.5_Nonsense_Mutation_p.G436*	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	457					intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TTGATTGTTCCTTGATTTTCA	0.428																																						uc002rro.2																			0				ovary(3)|lung(3)|stomach(1)|pancreas(1)	8						c.(1369-1371)GGA>TGA		mitogen-activated protein kinase kinase kinase							179.0	177.0	178.0					2																	39515367		2203	4300	6503	SO:0001587	stop_gained	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39515367C>A	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.1369G>T	2.37:g.39515367C>A	ENSP00000263881:p.Gly457*					MAP4K3_uc002rrp.2_Nonsense_Mutation_p.G436*|MAP4K3_uc010yns.1_Nonsense_Mutation_p.G10*	p.G457*	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN			20	1460	-		all_hematologic(82;0.211)	457					Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Nonsense_Mutation	SNP	ENST00000263881.3	37	c.1369G>T	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	C	36	5.965206	0.97151	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681;ENST00000536018	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	19.9462	0.97183	0.0:1.0:0.0:0.0	.	.	.	.	X	457;373;436;10	.	ENSP00000263881:G457X	G	-	1	0	MAP4K3	39368871	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.845000	0.69437	2.717000	0.92951	0.585000	0.79938	GGA		0.428	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618	
STON1	11037	broad.mit.edu	37	2	48809103	48809103	+	Missense_Mutation	SNP	G	G	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr2:48809103G>T	ENST00000406226.1	+	3	1526	c.1331G>T	c.(1330-1332)tGc>tTc	p.C444F	STON1_ENST00000404752.1_Missense_Mutation_p.C444F|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.C444F|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.C444F|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.C444F|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.C444F|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.C444F|STON1_ENST00000309835.3_Missense_Mutation_p.C444F	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	444	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CAAATTTATTGCCTCTGCTTT	0.383																																						uc010yol.1																			0				ovary(3)|pancreas(1)|skin(1)	5						c.(1330-1332)TGC>TTC		stonin 1							121.0	126.0	124.0					2																	48809103		2203	4300	6503	SO:0001583	missense	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48809103G>T	AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.1331G>T	2.37:g.48809103G>T	ENSP00000384615:p.Cys444Phe					STON1_uc002rwo.3_Missense_Mutation_p.C444F|STON1_uc010fbm.2_Missense_Mutation_p.C444F|STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.C444F|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Missense_Mutation_p.C444F	p.C444F	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	1378	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	444					A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Missense_Mutation	SNP	ENST00000406226.1	37	c.1331G>T	CCDS1841.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.869631	0.33069	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	T;T;T;T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06;2.06;2.06;2.06	5.54	4.67	0.58626	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.32585	0.0834	L	0.43646	1.37	0.49389	D	0.99978	P;D;D	0.61697	0.594;0.964;0.99	P;P;D	0.64321	0.472;0.745;0.924	T	0.02533	-1.1145	10	0.26408	T	0.33	.	11.5497	0.50713	0.1421:0.0:0.8579:0.0	.	444;444;444	A8MXJ1;Q53S48;Q9Y6Q2	.;.;STON1_HUMAN	F	444	ENSP00000385273:C444F;ENSP00000384615:C444F;ENSP00000310969:C444F;ENSP00000385499:C444F;ENSP00000385701:C444F;ENSP00000378236:C444F;ENSP00000311493:C444F;ENSP00000378234:C444F	ENSP00000310969:C444F	C	+	2	0	STON1-GTF2A1L;STON1	48662607	1.000000	0.71417	0.994000	0.49952	0.737000	0.42083	7.814000	0.86154	1.586000	0.49944	-0.136000	0.14681	TGC		0.383	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873	
CCDC85A	114800	broad.mit.edu	37	2	56420085	56420085	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr2:56420085G>C	ENST00000407595.2	+	2	1252	c.750G>C	c.(748-750)aaG>aaC	p.K250N	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	250	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGCACTCCAAGCACAGGAGCG	0.662																																						uc002rzn.2																			0				breast(3)|ovary(2)	5						c.(748-750)AAG>AAC		coiled-coil domain containing 85A							26.0	41.0	36.0					2																	56420085		2060	4209	6269	SO:0001583	missense	114800							g.chr2:56420085G>C	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.750G>C	2.37:g.56420085G>C	ENSP00000384040:p.Lys250Asn						p.K250N	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		2	1252	+			250			His-rich.			Missense_Mutation	SNP	ENST00000407595.2	37	c.750G>C	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.577727	0.45902	.	.	ENSG00000055813	ENST00000407595	T	0.38722	1.12	4.56	2.27	0.28462	.	0.103048	0.64402	D	0.000009	T	0.36386	0.0965	L	0.50333	1.59	0.80722	D	1	P	0.52842	0.956	B	0.44224	0.444	T	0.12993	-1.0526	10	0.66056	D	0.02	-2.1045	7.7842	0.29083	0.4059:0.0:0.5941:0.0	.	250	Q96PX6	CC85A_HUMAN	N	250	ENSP00000384040:K250N	ENSP00000384040:K250N	K	+	3	2	CCDC85A	56273589	0.998000	0.40836	0.998000	0.56505	0.910000	0.53928	0.389000	0.20751	0.305000	0.22832	0.591000	0.81541	AAG		0.662	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1		
GLI2	2736	broad.mit.edu	37	2	121726342	121726342	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr2:121726342G>A	ENST00000314490.11	+	0	726				GLI2_ENST00000361492.4_Silent_p.A232A|GLI2_ENST00000452319.1_Silent_p.A232A|GLI2_ENST00000435313.2_3'UTR					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCAAGCGGGCGCTGTCCATCT	0.632																																						uc010flp.2																			0				ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13						c.(694-696)GCG>GCA		GLI-Kruppel family member GLI2							76.0	72.0	73.0					2																	121726342		2203	4300	6503			2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121726342G>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741		2.37:g.121726342G>A						GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Intron|GLI2_uc002tmu.3_Intron|GLI2_uc002tmv.1_Missense_Mutation_p.A103T|GLI2_uc010flo.1_Silent_p.A107A|GLI2_uc002tmw.1_Silent_p.A232A	p.A232A	NM_005270	NP_005261	P10070	GLI2_HUMAN			5	726	+	Renal(3;0.0496)	Prostate(154;0.0623)	232						Silent	SNP	ENST00000314490.11	37	c.696G>A		.	.	.	.	.	.	.	.	.	.	G	14.70	2.612735	0.46631	.	.	ENSG00000074047	ENST00000440937;ENST00000360874	.	.	.	4.91	-3.29	0.05017	.	0.000000	0.85682	D	0.000000	T	0.30696	0.0773	.	.	.	0.80722	D	1	B	0.27971	0.196	B	0.17722	0.019	T	0.03166	-1.1065	8	0.66056	D	0.02	.	1.9838	0.03432	0.1518:0.2139:0.1708:0.4635	.	103	F5H4D9	.	T	103;95	.	ENSP00000441454:A95T	A	+	1	0	GLI2	121442812	0.001000	0.12720	0.993000	0.49108	0.990000	0.78478	-1.608000	0.02068	-0.252000	0.09528	-0.714000	0.03626	GCT		0.632	GLI2-201	KNOWN	basic	protein_coding	protein_coding		NM_005270	
ZDBF2	57683	broad.mit.edu	37	2	207173022	207173022	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr2:207173022C>A	ENST00000374423.3	+	5	4156	c.3770C>A	c.(3769-3771)cCt>cAt	p.P1257H		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1257							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GCTGGCCAACCTGAAGAAGTA	0.383																																						uc002vbp.2																			0				ovary(3)	3						c.(3769-3771)CCT>CAT		zinc finger, DBF-type containing 2							41.0	45.0	44.0					2																	207173022		1854	4097	5951	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207173022C>A	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.3770C>A	2.37:g.207173022C>A	ENSP00000363545:p.Pro1257His						p.P1257H	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			5	4020	+			1257					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.3770C>A	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	C	8.864	0.947551	0.18356	.	.	ENSG00000204186	ENST00000374423	T	0.43294	0.95	3.95	2.75	0.32379	.	.	.	.	.	T	0.33673	0.0871	L	0.34521	1.04	0.09310	N	1	P	0.52316	0.952	P	0.45881	0.496	T	0.13548	-1.0505	9	0.62326	D	0.03	.	5.6698	0.17715	0.0:0.797:0.0:0.203	.	1257	Q9HCK1	ZDBF2_HUMAN	H	1257	ENSP00000363545:P1257H	ENSP00000363545:P1257H	P	+	2	0	ZDBF2	206881267	0.924000	0.31332	0.114000	0.21550	0.003000	0.03518	0.481000	0.22260	0.910000	0.36722	0.650000	0.86243	CCT		0.383	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
PRKAG3	53632	broad.mit.edu	37	2	219691740	219691740	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr2:219691740G>A	ENST00000529249.1	-	10	1394	c.1079C>T	c.(1078-1080)gCt>gTt	p.A360V	PRKAG3_ENST00000439262.2_Missense_Mutation_p.A335V|PRKAG3_ENST00000545803.1_Missense_Mutation_p.A176V|PRKAG3_ENST00000392098.3_Silent_p.L345L			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	360	CBS 3. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)	AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Acetylsalicylic acid(DB00945)	CAGCACCACAGCCAAGTCTCG	0.602																																						uc002vjb.1																			0				ovary(1)|lung(1)	2						c.(1078-1080)GCT>GTT		AMP-activated protein kinase, non-catalytic							106.0	104.0	105.0					2																	219691740		2203	4300	6503	SO:0001583	missense	53632				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding	g.chr2:219691740G>A	AF214519	CCDS2424.1	2q35	2012-09-20			ENSG00000115592	ENSG00000115592			9387	protein-coding gene	gene with protein product		604976				10818001	Standard	NM_017431		Approved		uc002vjb.1	Q9UGI9	OTTHUMG00000133078	ENST00000529249.1:c.1079C>T	2.37:g.219691740G>A	ENSP00000436068:p.Ala360Val					PRKAG3_uc010zkn.1_RNA|PRKAG3_uc010fvy.1_Silent_p.L402L	p.A360V	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1098	-		Renal(207;0.0474)	360			CBS 3.		Q4QQG8|Q4V779|Q9NRL1	Missense_Mutation	SNP	ENST00000529249.1	37	c.1079C>T	CCDS2424.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991393	0.74703	.	.	ENSG00000115592	ENST00000439262;ENST00000545803;ENST00000529249	D;D;D	0.90504	-2.68;-2.68;-2.68	5.77	5.77	0.91146	Cystathionine beta-synthase, core (3);	0.000000	0.85682	D	0.000000	D	0.91222	0.7234	N	0.13003	0.285	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91316	0.5078	10	0.39692	T	0.17	-16.4424	18.9741	0.92728	0.0:0.0:1.0:0.0	.	360	Q9UGI9	AAKG3_HUMAN	V	335;176;360	ENSP00000397133:A335V;ENSP00000444536:A176V;ENSP00000436068:A360V	ENSP00000233944:A360V	A	-	2	0	PRKAG3	219399984	1.000000	0.71417	0.968000	0.41197	0.937000	0.57800	9.635000	0.98437	2.729000	0.93468	0.655000	0.94253	GCT		0.602	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1		
PASK	23178	broad.mit.edu	37	2	242065780	242065780	+	Silent	SNP	C	C	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr2:242065780C>T	ENST00000405260.1	-	10	3248	c.2550G>A	c.(2548-2550)acG>acA	p.T850T	PASK_ENST00000403638.3_Silent_p.T850T|PASK_ENST00000544142.1_Silent_p.T664T|PASK_ENST00000358649.4_Silent_p.T850T|PASK_ENST00000539818.1_Silent_p.T634T|PASK_ENST00000234040.4_Silent_p.T850T	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	850				T -> M (in Ref. 2; BAA09484). {ECO:0000305}.	negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.T850T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CAGCATCCAACGTGGAAGGAA	0.587																																						uc002wao.1																			2	Substitution - coding silent(2)		endometrium(2)	ovary(4)|lung(1)|skin(1)	6						c.(2548-2550)ACG>ACA		PAS domain containing serine/threonine kinase							162.0	150.0	154.0					2																	242065780		2203	4300	6503	SO:0001819	synonymous_variant	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242065780C>T	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.2550G>A	2.37:g.242065780C>T						PASK_uc010zol.1_Silent_p.T664T|PASK_uc010zom.1_Silent_p.T815T|PASK_uc010fzl.1_Silent_p.T850T|PASK_uc010zon.1_Silent_p.T631T|PASK_uc002wap.2_Silent_p.T393T|PASK_uc002waq.2_Silent_p.T850T	p.T850T	NM_015148	NP_055963	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	10	2642	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	850	T -> M (in Ref. 2; BAA09484).				G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Silent	SNP	ENST00000405260.1	37	c.2550G>A	CCDS2545.1																																																																																				0.587	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148	
CD40	958	broad.mit.edu	37	20	44750990	44750990	+	Silent	SNP	C	C	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr20:44750990C>T	ENST00000372285.3	+	3	321	c.249C>T	c.(247-249)tgC>tgT	p.C83C	CD40_ENST00000489304.1_3'UTR|CD40_ENST00000372276.3_Silent_p.C83C	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	83			C -> R (in HIGM3; dbSNP:rs28931586). {ECO:0000269|PubMed:11675497}.		B cell proliferation (GO:0042100)|cellular calcium ion homeostasis (GO:0006874)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|protein complex assembly (GO:0006461)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	CD40 receptor complex (GO:0035631)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|enzyme binding (GO:0019899)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)				ACAAATACTGCGACCCCAGTG	0.527									Immune Deficiency with Hyper-IgM																													uc002xrg.1																			0				lung(1)|skin(1)	2						c.(247-249)TGC>TGT		CD40 antigen isoform 1 precursor	Simvastatin(DB00641)						80.0	72.0	75.0					20																	44750990		2203	4300	6503	SO:0001819	synonymous_variant	958	Immune_Deficiency_with_Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity	g.chr20:44750990C>T	X60592	CCDS13393.1, CCDS13394.1	20q12-q13.2	2014-09-17	2006-03-28	2005-01-14	ENSG00000101017	ENSG00000101017		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11919	protein-coding gene	gene with protein product		109535	"""tumor necrosis factor receptor superfamily, member 5"""	TNFRSF5		7687385, 2998589	Standard	XM_005260617		Approved	p50, Bp50	uc002xrg.1	P25942	OTTHUMG00000033053	ENST00000372285.3:c.249C>T	20.37:g.44750990C>T						CD40_uc002xrf.1_Silent_p.C83C|CD40_uc002xrh.1_Silent_p.C83C|CD40_uc002xri.1_Silent_p.C83C|CD40_uc002xrj.1_RNA|CD40_uc002xrk.1_RNA	p.C83C	NM_001250	NP_001241	P25942	TNR5_HUMAN			3	326	+		Myeloproliferative disorder(115;0.0122)	83			TNFR-Cys 2.|Extracellular (Potential).		E1P5S9|Q53GN5|Q5JY15|Q5U007|Q7M4Q8|Q86YK5|Q9BYU0	Silent	SNP	ENST00000372285.3	37	c.249C>T	CCDS13393.1																																																																																				0.527	CD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080376.1	NM_001250	
TRIOBP	11078	broad.mit.edu	37	22	38119882	38119884	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr22:38119882_38119884delCCT	ENST00000406386.3	+	7	1574_1576	c.1319_1321delCCT	c.(1318-1323)gcctcc>gcc	p.S442del		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	442					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AATCCCAGAGCCTCCTCTCCCAG	0.601																																						uc003atr.2																			0				central_nervous_system(1)	1						c.(1318-1323)GCCTCC>GCC		TRIO and F-actin binding protein isoform 6				8,3622		3,2,1810						-5.6	0.0			78	10,7846		3,4,3921	no	coding	TRIOBP	NM_001039141.2		6,6,5731	A1A1,A1R,RR		0.1273,0.2204,0.1567				18,11468				SO:0001651	inframe_deletion	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38119882_38119884delCCT	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1319_1321delCCT	22.37:g.38119885_38119887delCCT	ENSP00000384312:p.Ser442del					TRIOBP_uc003atu.2_In_Frame_Del_p.S270del|TRIOBP_uc003atq.1_In_Frame_Del_p.S442del|TRIOBP_uc003ats.1_In_Frame_Del_p.S270del	p.S442del	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			7	1590_1592	+	Melanoma(58;0.0574)		442					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	In_Frame_Del	DEL	ENST00000406386.3	37	c.1319_1321delCCT	CCDS43015.1																																																																																				0.601	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2		
TRIOBP	11078	broad.mit.edu	37	22	38120676	38120676	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr22:38120676G>A	ENST00000406386.3	+	7	2368	c.2113G>A	c.(2113-2115)Gat>Aat	p.D705N		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	705					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.D705N(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCAACGGGACGATCCCAGAGC	0.582																																						uc003atr.2																			1	Substitution - Missense(1)		endometrium(1)	central_nervous_system(1)	1						c.(2113-2115)GAT>AAT		TRIO and F-actin binding protein isoform 6							171.0	186.0	181.0					22																	38120676		1948	4149	6097	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120676G>A	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2113G>A	22.37:g.38120676G>A	ENSP00000384312:p.Asp705Asn					TRIOBP_uc003atu.2_Missense_Mutation_p.D533N|TRIOBP_uc003atq.1_Missense_Mutation_p.D705N|TRIOBP_uc003ats.1_Missense_Mutation_p.D533N	p.D705N	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			7	2384	+	Melanoma(58;0.0574)		705					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.2113G>A	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	g	3.394	-0.123694	0.06795	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.18016	2.24	4.43	-0.607	0.11615	.	.	.	.	.	T	0.04407	0.0121	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42716	-0.9435	9	0.07175	T	0.84	.	5.9552	0.19269	0.6013:0.3028:0.0959:0.0	.	705	Q9H2D6	TARA_HUMAN	N	705	ENSP00000384312:D705N	ENSP00000384312:D705N	D	+	1	0	TRIOBP	36450622	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	-0.541000	0.06099	-0.376000	0.07943	-1.456000	0.01031	GAT		0.582	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2		
ALG12	79087	broad.mit.edu	37	22	50307405	50307405	+	Silent	SNP	T	T	C			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr22:50307405T>C	ENST00000330817.6	-	2	282	c.9A>G	c.(7-9)ggA>ggG	p.G3G		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	3					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		ATGACCCCTTTCCAGCCATTC	0.597																																						uc003biy.2																			0					0						c.(7-9)GGA>GGG		alpha-1,6-mannosyltransferase ALG12							60.0	68.0	65.0					22																	50307405		2203	4300	6503	SO:0001819	synonymous_variant	79087				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane		g.chr22:50307405T>C	AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19358	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase"", ""dol-P-Man dependent alpha-1,6-mannosyltransferase"""	607144	"""asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)"", ""asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"""			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.9A>G	22.37:g.50307405T>C							p.G3G	NM_024105	NP_077010	Q9BV10	ALG12_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)	2	283	-		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	3					A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Silent	SNP	ENST00000330817.6	37	c.9A>G	CCDS14081.1																																																																																				0.597	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317405.2	NM_024105	
FBXL2	25827	broad.mit.edu	37	3	33415165	33415165	+	Missense_Mutation	SNP	T	T	G			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr3:33415165T>G	ENST00000484457.1	+	8	642	c.551T>G	c.(550-552)cTg>cGg	p.L184R	FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000507198.1_Intron|FBXL2_ENST00000538181.1_Missense_Mutation_p.L100R|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000538892.1_Intron	NM_012157.3	NP_036289.3			F-box and leucine-rich repeat protein 2											endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						TGTCGAGGCCTGAAAGCCCTG	0.552																																						uc003cfp.2																			0				large_intestine(1)	1						c.(550-552)CTG>CGG		F-box and leucine-rich repeat protein 2							97.0	89.0	92.0					3																	33415165		2203	4300	6503	SO:0001583	missense	25827				interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity	g.chr3:33415165T>G	AF174589	CCDS2658.1, CCDS54560.1	3p22.3	2011-06-09			ENSG00000153558	ENSG00000153558		"""F-boxes / Leucine-rich repeats"""	13598	protein-coding gene	gene with protein product		605652				10508920, 10531035	Standard	NM_012157		Approved	FBL2, FBL3	uc003cfp.3	Q9UKC9	OTTHUMG00000130745	ENST00000484457.1:c.551T>G	3.37:g.33415165T>G	ENSP00000417601:p.Leu184Arg					FBXL2_uc011axm.1_RNA|FBXL2_uc011axn.1_RNA|FBXL2_uc011axo.1_Missense_Mutation_p.L79R|FBXL2_uc011axp.1_Missense_Mutation_p.L100R|FBXL2_uc011axq.1_RNA|FBXL2_uc011axr.1_RNA|FBXL2_uc011axs.1_RNA	p.L184R	NM_012157	NP_036289	Q9UKC9	FBXL2_HUMAN			8	622	+			184			LRR 5.			Missense_Mutation	SNP	ENST00000484457.1	37	c.551T>G	CCDS2658.1	.	.	.	.	.	.	.	.	.	.	T	30	5.055108	0.93793	.	.	ENSG00000153558	ENST00000484457;ENST00000538181	T;T	0.78481	-1.18;-1.18	5.29	5.29	0.74685	.	0.073354	0.53938	N	0.000042	D	0.90899	0.7140	H	0.99312	4.51	0.80722	D	1	D;D;P	0.54964	0.969;0.969;0.939	P;P;P	0.52627	0.704;0.704;0.64	D	0.94480	0.7692	10	0.87932	D	0	.	15.1545	0.72730	0.0:0.0:0.0:1.0	.	100;79;184	B4E1B8;B4DMM3;Q9UKC9	.;.;FBXL2_HUMAN	R	184;100	ENSP00000417601:L184R;ENSP00000440794:L100R	ENSP00000417601:L184R	L	+	2	0	FBXL2	33390169	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	7.947000	0.87758	2.317000	0.78254	0.524000	0.50904	CTG		0.552	FBXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253245.2	NM_012157	
CSRNP1	64651	broad.mit.edu	37	3	39188146	39188146	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr3:39188146C>A	ENST00000273153.5	-	2	205	c.28G>T	c.(28-30)Gac>Tac	p.D10Y	CSRNP1_ENST00000514182.1_Missense_Mutation_p.D10Y	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	10					apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	nucleus (GO:0005634)	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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						TCCAGCTGGTCAAATTTCCTC	0.587																																						uc003cjg.2																			0				ovary(4)|skin(1)	5						c.(28-30)GAC>TAC		AXIN1 up-regulated 1							82.0	39.0	54.0					3																	39188146		2203	4296	6499	SO:0001583	missense	64651				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:39188146C>A	AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"""AXIN1 up-regulated 1"""	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.28G>T	3.37:g.39188146C>A	ENSP00000273153:p.Asp10Tyr					CSRNP1_uc003cjh.2_Missense_Mutation_p.D10Y	p.D10Y	NM_033027	NP_149016	Q96S65	CSRN1_HUMAN			2	242	-			10					Q69YY5	Missense_Mutation	SNP	ENST00000273153.5	37	c.28G>T	CCDS2682.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.489336	0.64074	.	.	ENSG00000144655	ENST00000273153;ENST00000514182	T;T	0.49139	0.79;0.79	4.06	3.15	0.36227	.	0.187038	0.44902	D	0.000406	T	0.40015	0.1100	L	0.50333	1.59	0.34621	D	0.718613	B	0.27656	0.184	B	0.27796	0.083	T	0.51841	-0.8654	10	0.87932	D	0	-21.5258	8.3137	0.32086	0.1772:0.6514:0.1714:0.0	.	10	Q96S65	CSRN1_HUMAN	Y	10	ENSP00000273153:D10Y;ENSP00000422532:D10Y	ENSP00000273153:D10Y	D	-	1	0	CSRNP1	39163150	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.902000	0.63266	0.767000	0.33267	0.491000	0.48974	GAC		0.587	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254061.1	NM_033027	
MAATS1	89876	broad.mit.edu	37	3	119462994	119462994	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr3:119462994G>A	ENST00000273390.5	+	14	1930	c.1853G>A	c.(1852-1854)cGc>cAc	p.R618H	RP11-169N13.4_ENST00000489428.2_RNA	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	454						mitochondrion (GO:0005739)											AGTGGTCGGCGCCAGGTGGAA	0.592																																						uc003ede.3																			0				ovary(2)|pancreas(1)	3						c.(1852-1854)CGC>CAC		AAT1-alpha							61.0	60.0	60.0					3																	119462994		2203	4300	6503	SO:0001583	missense	89876					mitochondrion	protein binding	g.chr3:119462994G>A	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.1853G>A	3.37:g.119462994G>A	ENSP00000273390:p.Arg618His					C3orf15_uc010hqz.2_Missense_Mutation_p.R556H|C3orf15_uc011bjd.1_Missense_Mutation_p.R492H|C3orf15_uc011bje.1_Missense_Mutation_p.R598H	p.R618H	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN		GBM - Glioblastoma multiforme(114;0.186)	14	1930	+			454					A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	c.1853G>A	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	G	36	5.715200	0.96830	.	.	ENSG00000183833	ENST00000273390	T	0.61392	0.11	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.80829	0.4698	M	0.87097	2.86	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.83537	0.0094	10	0.87932	D	0	-5.7396	19.7305	0.96180	0.0:0.0:1.0:0.0	.	454;556;618	Q7Z4T9;Q7Z4T9-3;Q7Z4T9-7	AAT1_HUMAN;.;.	H	618	ENSP00000273390:R618H	ENSP00000273390:R618H	R	+	2	0	C3orf15	120945684	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.184000	0.94893	2.663000	0.90544	0.484000	0.47621	CGC		0.592	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364	
ERICH6	131831	broad.mit.edu	37	3	150387205	150387205	+	Silent	SNP	C	C	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr3:150387205C>T	ENST00000295910.6	-	12	1429	c.1377G>A	c.(1375-1377)gtG>gtA	p.V459V	FAM194A_ENST00000491361.1_Silent_p.V313V	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCTTGTTGGGCACTCGAATGA	0.418																																						uc003eyg.2																			0				skin(2)|ovary(1)	3						c.(1375-1377)GTG>GTA		hypothetical protein LOC131831							188.0	173.0	178.0					3																	150387205		2203	4300	6503	SO:0001819	synonymous_variant	131831							g.chr3:150387205C>T																												ENST00000295910.6:c.1377G>A	3.37:g.150387205C>T						FAM194A_uc003eyh.2_Silent_p.V313V	p.V459V	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN			12	1434	-			459						Silent	SNP	ENST00000295910.6	37	c.1377G>A	CCDS3151.2																																																																																				0.418	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1		
ZNF595	152687	broad.mit.edu	37	4	86956	86956	+	3'UTR	SNP	C	C	G			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr4:86956C>G	ENST00000339368.6	+	0	1765							Q8IYB9	ZN595_HUMAN	zinc finger protein 595						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(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		AACCAATCCTCAGGCCTTATT	0.393																																						uc003fzv.1																			0					0						c.(1561-1563)TCA>TGA		zinc finger protein 595							63.0	70.0	68.0					4																	86956		2083	4257	6340	SO:0001624	3_prime_UTR_variant	152687				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr4:86956C>G	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000339368.6:c.*1762C>G	4.37:g.86956C>G						ZNF595_uc003fzu.1_Intron|ZNF718_uc003fzt.3_Intron|ZNF595_uc011bus.1_Nonsense_Mutation_p.S289*|ZNF595_uc011but.1_Nonsense_Mutation_p.S289*	p.S521*	NM_182524	NP_872330	Q7Z3I0	Q7Z3I0_HUMAN		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)	6	1718	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)	521						Nonsense_Mutation	SNP	ENST00000339368.6	37	c.1562C>G																																																																																					0.393	ZNF595-001	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000357814.2	NM_182524	
KIT	3815	broad.mit.edu	37	4	55561742	55561742	+	Silent	SNP	A	A	G			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr4:55561742A>G	ENST00000288135.5	+	2	229	c.132A>G	c.(130-132)tcA>tcG	p.S44S		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	44	Ig-like C2-type 1.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAGGAAAATCAGACTTAATAG	0.468		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													uc010igr.2		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	Mis|O	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		GIST|epithelioma	GIST|AML|TGCT|mastocytosis|mucosal melanoma		0				soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118						c.(130-132)TCA>TCG		v-kit Hardy-Zuckerman 4 feline sarcoma viral	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						96.0	87.0	90.0					4																	55561742		2203	4300	6503	SO:0001819	synonymous_variant	3815	Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55561742A>G	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.132A>G	4.37:g.55561742A>G						KIT_uc010igs.2_Silent_p.S44S	p.S44S	NM_000222	NP_000213	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	2	219	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		44			Extracellular (Potential).|Ig-like C2-type 1.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Silent	SNP	ENST00000288135.5	37	c.132A>G	CCDS3496.1																																																																																				0.468	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1		
GUCY1A3	2982	broad.mit.edu	37	4	156634553	156634553	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr4:156634553C>T	ENST00000296518.7	+	7	1599	c.1390C>T	c.(1390-1392)Cag>Tag	p.Q464*	GUCY1A3_ENST00000506455.1_Nonsense_Mutation_p.Q464*|GUCY1A3_ENST00000393832.3_Nonsense_Mutation_p.Q206*|GUCY1A3_ENST00000455639.2_Nonsense_Mutation_p.Q464*|GUCY1A3_ENST00000511507.1_Nonsense_Mutation_p.Q464*|GUCY1A3_ENST00000513574.1_Nonsense_Mutation_p.Q464*|GUCY1A3_ENST00000511108.1_Nonsense_Mutation_p.Q464*			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	464					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TGAGGTTGCTCAGCAGCTGTG	0.522																																						uc003iov.2																			0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1390-1392)CAG>TAG		guanylate cyclase 1, soluble, alpha 3 isoform A							94.0	91.0	92.0					4																	156634553		2203	4300	6503	SO:0001587	stop_gained	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156634553C>T		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1390C>T	4.37:g.156634553C>T	ENSP00000296518:p.Gln464*					GUCY1A3_uc010iqc.2_Nonsense_Mutation_p.Q464*|GUCY1A3_uc003iow.2_Nonsense_Mutation_p.Q464*|GUCY1A3_uc010iqd.2_Nonsense_Mutation_p.Q463*|GUCY1A3_uc003iox.2_Nonsense_Mutation_p.Q464*|GUCY1A3_uc003ioz.2_Nonsense_Mutation_p.Q229*|GUCY1A3_uc003ioy.2_Nonsense_Mutation_p.Q464*|GUCY1A3_uc010iqe.2_Nonsense_Mutation_p.Q229*|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Nonsense_Mutation_p.Q464*	p.Q464*	NM_000856	NP_000847	Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	8	1926	+	all_hematologic(180;0.24)	Renal(120;0.0854)	464					D3DP19|D6RDW3|O43843|Q8TAH3	Nonsense_Mutation	SNP	ENST00000296518.7	37	c.1390C>T	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	C	42	9.753385	0.99255	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	.	.	.	5.88	5.88	0.94601	.	0.311898	0.27922	N	0.017316	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	20.2441	0.98394	0.0:1.0:0.0:0.0	.	.	.	.	X	464;464;464;464;206;464;464	.	ENSP00000296518:Q464X	Q	+	1	0	GUCY1A3	156854003	1.000000	0.71417	0.968000	0.41197	0.985000	0.73830	7.792000	0.85828	2.774000	0.95407	0.655000	0.94253	CAG		0.522	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2		
NAF1	92345	broad.mit.edu	37	4	164050120	164050120	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr4:164050120G>A	ENST00000274054.2	-	8	1607	c.1414C>T	c.(1414-1416)Cct>Tct	p.P472S	NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	472	Pro-rich.				pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				ggagggggagggggtgggggt	0.512																																						uc003iqj.2																			0				ovary(2)	2						c.(1414-1416)CCT>TCT		nuclear assembly factor 1 homolog isoform a							10.0	11.0	11.0					4																	164050120		2190	4274	6464	SO:0001583	missense	92345				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr4:164050120G>A		CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"""nuclear assembly factor 1 homolog (S. cerevisiae)"""			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.1414C>T	4.37:g.164050120G>A	ENSP00000274054:p.Pro472Ser					NAF1_uc010iqw.1_Intron	p.P472S	NM_138386	NP_612395	Q96HR8	NAF1_HUMAN			8	1608	-	all_hematologic(180;0.166)	Prostate(90;0.109)	472			Pro-rich.		D3DP28|E9PAZ2	Missense_Mutation	SNP	ENST00000274054.2	37	c.1414C>T	CCDS3803.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.645356	0.29246	.	.	ENSG00000145414	ENST00000274054	T	0.33216	1.42	4.43	4.43	0.53597	.	0.533493	0.17839	N	0.160264	T	0.20780	0.0500	N	0.19112	0.55	0.23956	N	0.996353	P	0.48162	0.906	B	0.43445	0.42	T	0.07009	-1.0795	10	0.12103	T	0.63	.	13.2959	0.60296	0.0:0.0:1.0:0.0	.	472	Q96HR8	NAF1_HUMAN	S	472	ENSP00000274054:P472S	ENSP00000274054:P472S	P	-	1	0	NAF1	164269570	0.942000	0.31987	0.020000	0.16555	0.055000	0.15305	4.098000	0.57748	2.392000	0.81423	0.655000	0.94253	CCT		0.512	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386	
SLC6A3	6531	broad.mit.edu	37	5	1422074	1422074	+	Missense_Mutation	SNP	G	G	A	rs376877303		TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr5:1422074G>A	ENST00000270349.9	-	5	836	c.709C>T	c.(709-711)Cgg>Tgg	p.R237W	SLC6A3_ENST00000453492.2_Missense_Mutation_p.R237W	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	237			R -> Q (in dbSNP:rs6345). {ECO:0000269|PubMed:10391209}.		adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	AGCTGCCACCGCGGAGGCCCC	0.657																																						uc003jck.2																			0				ovary(3)|breast(2)|pancreas(1)	6						c.(709-711)CGG>TGG		solute carrier family 6 (neurotransmitter	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	75.0	70.0	72.0		709	3.5	0.8	5		72	0,8600		0,0,4300	no	missense	SLC6A3	NM_001044.4	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	237/621	1422074	1,13005	2203	4300	6503	SO:0001583	missense	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1422074G>A		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.709C>T	5.37:g.1422074G>A	ENSP00000270349:p.Arg237Trp						p.R237W	NM_001044	NP_001035	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		5	830	-			237			Extracellular (Potential).		A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	c.709C>T	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743241	0.69418	2.27E-4	0.0	ENSG00000142319	ENST00000270349;ENST00000453492;ENST00000513308	T;T;T	0.76448	-1.02;-1.02;-1.02	4.4	3.51	0.40186	.	0.000000	0.85682	D	0.000000	D	0.90239	0.6948	H	0.95328	3.655	0.53005	D	0.999964	D	0.89917	1.0	D	0.70487	0.969	D	0.91675	0.5353	10	0.87932	D	0	.	11.645	0.51255	0.0:0.0:0.8206:0.1794	.	237	Q01959	SC6A3_HUMAN	W	237;237;163	ENSP00000270349:R237W;ENSP00000399806:R237W;ENSP00000429101:R163W	ENSP00000270349:R237W	R	-	1	2	SLC6A3	1475074	1.000000	0.71417	0.802000	0.32245	0.862000	0.49288	5.691000	0.68249	0.941000	0.37499	-0.521000	0.04368	CGG		0.657	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044	
NPR3	4883	broad.mit.edu	37	5	32724903	32724903	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr5:32724903A>G	ENST00000265074.8	+	2	1212	c.869A>G	c.(868-870)gAg>gGg	p.E290G	NPR3_ENST00000415685.2_Missense_Mutation_p.E74G|NPR3_ENST00000434067.2_Missense_Mutation_p.E74G|NPR3_ENST00000415167.2_Missense_Mutation_p.E290G	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	290					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TTCAACATTGAGCTCTTCAAC	0.537																																						uc003jhv.2																			0				ovary(1)|central_nervous_system(1)	2						c.(868-870)GAG>GGG		natriuretic peptide receptor C/guanylate cyclase	Nesiritide(DB04899)						208.0	215.0	213.0					5																	32724903		2178	4272	6450	SO:0001583	missense	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32724903A>G		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.869A>G	5.37:g.32724903A>G	ENSP00000265074:p.Glu290Gly					NPR3_uc010iuo.2_Missense_Mutation_p.E74G|NPR3_uc011cnz.1_Missense_Mutation_p.E74G|NPR3_uc003jhu.2_Missense_Mutation_p.E290G	p.E290G	NM_000908	NP_000899	P17342	ANPRC_HUMAN			2	1087	+			290			Extracellular (Potential).		A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	c.869A>G	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	A	29.7	5.031921	0.93575	.	.	ENSG00000113389	ENST00000509104;ENST00000434067;ENST00000415685;ENST00000265074;ENST00000415167	T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;1.9;1.9	5.37	5.37	0.77165	Extracellular ligand-binding receptor (1);	0.145425	0.64402	D	0.000012	D	0.85225	0.5648	M	0.82823	2.61	0.53005	D	0.999963	D;D;D;D	0.71674	0.998;0.998;0.991;0.991	D;D;P;P	0.69654	0.965;0.952;0.812;0.812	D	0.83824	0.0248	10	0.19590	T	0.45	-9.7092	15.039	0.71774	1.0:0.0:0.0:0.0	.	74;74;290;290	E7EPG9;B4DT84;P17342;Q60I31	.;.;ANPRC_HUMAN;.	G	67;74;74;290;290	ENSP00000425325:E67G;ENSP00000388408:E74G;ENSP00000402490:E74G;ENSP00000265074:E290G;ENSP00000398028:E290G	ENSP00000265074:E290G	E	+	2	0	NPR3	32760660	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	8.143000	0.89621	2.001000	0.58596	0.533000	0.62120	GAG		0.537	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908	
LYSMD3	116068	broad.mit.edu	37	5	89815175	89815175	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr5:89815175G>C	ENST00000315948.6	-	3	526	c.382C>G	c.(382-384)Cag>Gag	p.Q128E	LYSMD3_ENST00000509384.1_Missense_Mutation_p.T108R|LYSMD3_ENST00000500869.2_Intron	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	128						integral component of membrane (GO:0016021)				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		CGTGAAGTCTGTCTTCCTTTT	0.393																																						uc003kjr.2																			0					0						c.(382-384)CAG>GAG		LysM, putative peptidoglycan-binding, domain							112.0	103.0	106.0					5																	89815175		1868	4092	5960	SO:0001583	missense	116068				cell wall macromolecule catabolic process	integral to membrane		g.chr5:89815175G>C	BX537972	CCDS43338.1, CCDS68911.1	5q14.3	2010-12-09			ENSG00000176018	ENSG00000176018			26969	protein-coding gene	gene with protein product							Standard	NM_001286812		Approved	FLJ13542	uc003kjr.3	Q7Z3D4	OTTHUMG00000162667	ENST00000315948.6:c.382C>G	5.37:g.89815175G>C	ENSP00000314518:p.Gln128Glu					LYSMD3_uc010jaz.1_Intron|LYSMD3_uc003kjs.1_Missense_Mutation_p.T108R	p.Q128E	NM_198273	NP_938014	Q7Z3D4	LYSM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)	3	530	-		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)	128			Extracellular (Potential).		Q5H9U0|Q6PEK0|Q9NTE9	Missense_Mutation	SNP	ENST00000315948.6	37	c.382C>G	CCDS43338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.398|3.398	-0.122893|-0.122893	0.06795|0.06795	.|.	.|.	ENSG00000176018;ENSG00000259141|ENSG00000176018	ENST00000315948;ENST00000554351|ENST00000509384	T|.	0.16743|.	2.32|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.565272|.	0.19174|.	N|.	0.120858|.	T|T	0.48409|0.48409	0.1498|0.1498	L|L	0.46157|0.46157	1.445|1.445	0.23132|0.23132	N|N	0.99824|0.99824	B|P	0.23937|0.46512	0.094|0.879	B|P	0.14023|0.49252	0.01|0.604	T|T	0.47045|0.47045	-0.9147|-0.9147	10|8	0.02654|0.87932	T|D	1|0	-11.7237|-11.7237	14.565|14.565	0.68168|0.68168	0.0:0.0:0.8545:0.1455|0.0:0.0:0.8545:0.1455	.|.	128|108	Q7Z3D4|Q7Z3D4-2	LYSM3_HUMAN|.	E|R	128|108	ENSP00000314518:Q128E|.	ENSP00000314518:Q128E|ENSP00000427683:T108R	Q|T	-|-	1|2	0|0	AC027323.1;LYSMD3|LYSMD3	89850931|89850931	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.929000|0.929000	0.56500|0.56500	4.635000|4.635000	0.61332|0.61332	2.692000|2.692000	0.91855|0.91855	0.591000|0.591000	0.81541|0.81541	CAG|ACA		0.393	LYSMD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369987.2	XM_371760	
DTWD2	285605	broad.mit.edu	37	5	118324199	118324199	+	Nonsense_Mutation	SNP	G	G	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr5:118324199G>T	ENST00000510708.1	-	1	41	c.8C>A	c.(7-9)tCg>tAg	p.S3*	DTWD2_ENST00000304058.4_5'Flank|DTWD2_ENST00000515439.3_Nonsense_Mutation_p.S3*	NM_173666.2	NP_775937.1	Q8NBA8	DTWD2_HUMAN	DTW domain containing 2	3										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		CTCTTTCTGCGACTCCATGGC	0.706											OREG0016736	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ksa.2																			0					0						c.(7-9)TCG>TAG		DTW domain containing 2							14.0	18.0	17.0					5																	118324199		2194	4296	6490	SO:0001587	stop_gained	285605							g.chr5:118324199G>T		CCDS34216.1	5q23.1	2008-02-05			ENSG00000169570	ENSG00000169570			19334	protein-coding gene	gene with protein product							Standard	NM_173666		Approved	FLJ33977	uc003ksa.3	Q8NBA8	OTTHUMG00000162956	ENST00000510708.1:c.8C>A	5.37:g.118324199G>T	ENSP00000425048:p.Ser3*		OREG0016736	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1487		p.S3*	NM_173666	NP_775937	Q8NBA8	DTWD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)	1	42	-		all_epithelial(76;0.0982)|Prostate(80;0.121)	3						Nonsense_Mutation	SNP	ENST00000510708.1	37	c.8C>A	CCDS34216.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563802	0.86335	.	.	ENSG00000169570	ENST00000510708;ENST00000515439	.	.	.	5.03	1.05	0.20165	.	1.106060	0.06842	N	0.795940	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-8.4127	2.9381	0.05820	0.1608:0.1401:0.5545:0.1446	.	.	.	.	X	3	.	ENSP00000425016:S3X	S	-	2	0	DTWD2	118352098	0.321000	0.24625	0.622000	0.29159	0.205000	0.24178	0.356000	0.20181	0.303000	0.22785	0.655000	0.94253	TCG		0.706	DTWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371167.2	NM_173666	
PCDHA5	56143	broad.mit.edu	37	5	140202968	140202968	+	Silent	SNP	G	G	A	rs201301158		TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr5:140202968G>A	ENST00000529859.1	+	1	1608	c.1608G>A	c.(1606-1608)gcG>gcA	p.A536A	PCDHA5_ENST00000378126.3_Silent_p.A536A|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.A536A|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	536	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGAGCGCGCGCGACGCGG	0.677																																						uc003lhl.2																			0				ovary(1)|breast(1)|skin(1)	3						c.(1606-1608)GCG>GCA		protocadherin alpha 5 isoform 1 precursor		G	,,,,,,	0,4406		0,0,2203	46.0	53.0	51.0		,,,,1608,,1608	1.9	1.0	5		51	2,8594		0,2,4296	no	intron,intron,intron,intron,coding-synonymous,intron,coding-synonymous	PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_031411.1,NM_031501.1	,,,,,,	0,2,6499	AA,AG,GG		0.0233,0.0,0.0154	,,,,,,	,,,,536/937,,536/817	140202968	2,13000	2203	4298	6501	SO:0001819	synonymous_variant	56143				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140202968G>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1608G>A	5.37:g.140202968G>A						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_Silent_p.A536A|PCDHA5_uc003lhj.1_Silent_p.A536A	p.A536A	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1608	+			536			Extracellular (Potential).|Cadherin 5.		O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	c.1608G>A	CCDS54917.1																																																																																				0.677	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908	
KIF4B	285643	broad.mit.edu	37	5	154393566	154393566	+	Missense_Mutation	SNP	C	C	G			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr5:154393566C>G	ENST00000435029.4	+	1	307	c.147C>G	c.(145-147)ttC>ttG	p.F49L		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	49	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)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATAAATCCTTCACCTACGATT	0.488																																						uc010jih.1																			0				ovary(1)	1						c.(145-147)TTC>TTG		kinesin family member 4B							113.0	109.0	111.0					5																	154393566		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154393566C>G	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.147C>G	5.37:g.154393566C>G	ENSP00000387875:p.Phe49Leu						p.F49L	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	307	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	49			Kinesin-motor.			Missense_Mutation	SNP	ENST00000435029.4	37	c.147C>G	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	c	15.99	2.995166	0.54147	.	.	ENSG00000226650	ENST00000435029	D	0.82803	-1.65	1.48	-1.28	0.09318	Kinesin, motor domain (4);	.	.	.	.	D	0.91740	0.7388	H	0.96518	3.835	0.51767	D	0.999932	D	0.89917	1.0	D	0.87578	0.998	D	0.88221	0.2897	9	0.87932	D	0	.	6.3069	0.21143	0.0:0.6394:0.0:0.3606	.	49	Q2VIQ3	KIF4B_HUMAN	L	49	ENSP00000387875:F49L	ENSP00000387875:F49L	F	+	3	2	KIF4B	154373759	1.000000	0.71417	0.952000	0.39060	0.894000	0.52154	2.568000	0.45965	-0.327000	0.08551	-0.471000	0.05019	TTC		0.488	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1		
STK10	6793	broad.mit.edu	37	5	171510086	171510086	+	Missense_Mutation	SNP	C	C	T	rs550965424		TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr5:171510086C>T	ENST00000176763.5	-	11	2031	c.1688G>A	c.(1687-1689)cGc>cAc	p.R563H	AC113342.1_ENST00000579783.1_RNA	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	563					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAGTTCCTGGCGCCTGAAAGG	0.468													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17786	0.0		0.0	False		,,,				2504	0.0					uc003mbo.1																			0				ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8						c.(1687-1689)CGC>CAC		serine/threonine kinase 10							71.0	72.0	72.0					5																	171510086		2203	4300	6503	SO:0001583	missense	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171510086C>T	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.1688G>A	5.37:g.171510086C>T	ENSP00000176763:p.Arg563His						p.R563H	NM_005990	NP_005981	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		11	1988	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	563					A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	c.1688G>A	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	C	33	5.279408	0.95489	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.72505	-0.66	5.22	5.22	0.72569	.	0.464964	0.21520	N	0.073221	D	0.82953	0.5149	M	0.78637	2.42	0.80722	D	1	D	0.69078	0.997	P	0.62298	0.9	D	0.85289	0.1066	10	0.87932	D	0	.	16.2978	0.82784	0.0:1.0:0.0:0.0	.	563	O94804	STK10_HUMAN	H	563	ENSP00000176763:R563H	ENSP00000176763:R563H	R	-	2	0	STK10	171442691	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.732000	0.84908	2.442000	0.82660	0.655000	0.94253	CGC		0.468	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990	
CAGE1	285782	broad.mit.edu	37	6	7370288	7370288	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr6:7370288G>A	ENST00000512086.1	-	6	1959	c.1757C>T	c.(1756-1758)aCg>aTg	p.T586M	CAGE1_ENST00000338150.4_Missense_Mutation_p.T586M|CAGE1_ENST00000379918.4_Missense_Mutation_p.T586M|CAGE1_ENST00000296742.7_Missense_Mutation_p.T450M|CAGE1_ENST00000502583.1_Missense_Mutation_p.T586M			Q8TC20	CAGE1_HUMAN	cancer antigen 1	586										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					AGAATGTGTCGTTTTTGTATC	0.378																																						uc003mxi.2																			0					0						c.(1348-1350)ACG>ATG		cancer antigen 1							75.0	69.0	71.0					6																	7370288		1835	4089	5924	SO:0001583	missense	285782							g.chr6:7370288G>A	BC026194	CCDS47367.1, CCDS54964.1, CCDS54965.1	6p24.3	2009-08-06	2005-01-26	2005-01-27	ENSG00000164304	ENSG00000164304			21622	protein-coding gene	gene with protein product	"""cancer/testis antigen 95"""	608304	"""cancer/testis antigen 3"""	CTAG3		12531476	Standard	NM_205864		Approved	bA69L16.7, CT95	uc003mxl.2	Q8TC20	OTTHUMG00000014200	ENST00000512086.1:c.1757C>T	6.37:g.7370288G>A	ENSP00000427583:p.Thr586Met					CAGE1_uc003mxh.2_RNA|CAGE1_uc003mxj.2_Missense_Mutation_p.T341M|CAGE1_uc003mxk.1_Missense_Mutation_p.T341M	p.T450M	NM_205864	NP_995586	Q8TC20	CAGE1_HUMAN			5	2070	-	Ovarian(93;0.0418)		586					D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Missense_Mutation	SNP	ENST00000512086.1	37	c.1349C>T		.	.	.	.	.	.	.	.	.	.	G	0.011	-1.714123	0.00706	.	.	ENSG00000164304	ENST00000541116;ENST00000379918;ENST00000502583;ENST00000296742;ENST00000512086;ENST00000338150;ENST00000542431	T;T;T;T;T	0.30714	1.53;1.53;1.53;1.53;1.52	4.5	-2.39	0.06602	.	1.243410	0.05227	N	0.509567	T	0.02380	0.0073	N	0.00707	-1.245	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.33471	-0.9867	10	0.39692	T	0.17	4.0087	5.0893	0.14700	0.5416:0.1582:0.3002:0.0	.	586;586;586	Q8TC20-3;D6RCT9;Q8TC20	.;.;CAGE1_HUMAN	M	586;586;586;450;586;586;586	ENSP00000369250:T586M;ENSP00000425493:T586M;ENSP00000296742:T450M;ENSP00000427583:T586M;ENSP00000338107:T586M	ENSP00000296742:T450M	T	-	2	0	CAGE1	7315287	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.753000	0.04792	-0.592000	0.05851	-1.907000	0.00523	ACG		0.378	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	protein_coding	OTTHUMT00000367136.1	NM_175745	
TJAP1	93643	broad.mit.edu	37	6	43472961	43472961	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr6:43472961C>T	ENST00000372445.5	+	11	1418	c.1042C>T	c.(1042-1044)Ccc>Tcc	p.P348S	TJAP1_ENST00000438588.2_Missense_Mutation_p.P348S|TJAP1_ENST00000372444.2_Missense_Mutation_p.P338S|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000436109.2_Missense_Mutation_p.P338S|TJAP1_ENST00000259751.1_Missense_Mutation_p.P338S|TJAP1_ENST00000372452.1_Missense_Mutation_p.P338S|TJAP1_ENST00000372449.1_Missense_Mutation_p.P348S	NM_001146016.1	NP_001139488.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	348					Golgi organization (GO:0007030)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CAGCCCCCTGCCCAACTGCAC	0.652																																						uc003ovd.2																			0					0						c.(1042-1044)CCC>TCC		tight junction associated protein 1 isoform a							55.0	62.0	60.0					6																	43472961		2203	4300	6503	SO:0001583	missense	93643					Golgi apparatus|tight junction	protein binding	g.chr6:43472961C>T	AK024269	CCDS4898.1, CCDS55004.1	6p21.1	2008-02-05	2005-07-05	2005-07-05	ENSG00000137221	ENSG00000137221			17949	protein-coding gene	gene with protein product		612658	"""tight junction protein 4 (peripheral)"""	TJP4		11602598	Standard	NM_001146016		Approved	PILT	uc011dvh.1	Q5JTD0	OTTHUMG00000014736	ENST00000372445.5:c.1042C>T	6.37:g.43472961C>T	ENSP00000361522:p.Pro348Ser					TJAP1_uc003ovf.2_Missense_Mutation_p.P338S|TJAP1_uc003ove.2_Missense_Mutation_p.P338S|TJAP1_uc003ovc.2_Missense_Mutation_p.P338S|TJAP1_uc010jyp.2_Missense_Mutation_p.P307S|TJAP1_uc011dvh.1_Missense_Mutation_p.P338S|TJAP1_uc003ovg.2_Missense_Mutation_p.P214S|TJAP1_uc011dvi.1_Missense_Mutation_p.P348S|TJAP1_uc011dvj.1_Missense_Mutation_p.P148S|TJAP1_uc003ovi.2_Missense_Mutation_p.P214S	p.P348S	NM_001146016	NP_001139488	Q5JTD0	TJAP1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		11	1418	+	all_lung(25;0.00536)		348					Q05BH9|Q5JTD1|Q5JWW1|Q68DB2|Q6P2P3|Q9H7V7	Missense_Mutation	SNP	ENST00000372445.5	37	c.1042C>T	CCDS55004.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915423	0.92178	.	.	ENSG00000137221	ENST00000372444;ENST00000372445;ENST00000436109;ENST00000259751;ENST00000372454;ENST00000372452;ENST00000372449;ENST00000438588	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.71187	0.3310	L	0.47190	1.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73135	-0.4078	9	0.72032	D	0.01	-40.9683	19.5471	0.95302	0.0:1.0:0.0:0.0	.	348;338	Q5JTD0;Q5JTD0-2	TJAP1_HUMAN;.	S	338;348;338;338;338;338;348;348	.	ENSP00000259751:P338S	P	+	1	0	TJAP1	43580939	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.313000	0.78978	2.622000	0.88805	0.655000	0.94253	CCC		0.652	TJAP1-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040629.1	NM_080604	
POM121C	100101267	broad.mit.edu	37	7	75048122	75048122	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr7:75048122C>A	ENST00000257665.5	-	13	3646	c.3647G>T	c.(3646-3648)cGa>cTa	p.R1216L	NSUN5P1_ENST00000393633.2_RNA|POM121C_ENST00000453279.2_Missense_Mutation_p.R974L			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	1216	Pore side. {ECO:0000255}.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CAGTCGCTGTCGAGCCCCTGG	0.592																																						uc003udk.3																			0					0						c.(2920-2922)CGA>CTA		POM121 membrane glycoprotein (rat)-like							23.0	27.0	26.0					7																	75048122		2202	4297	6499	SO:0001583	missense	100101267				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	g.chr7:75048122C>A		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"""POM121 membrane glycoprotein C"""			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.3647G>T	7.37:g.75048122C>A	ENSP00000257665:p.Arg1216Leu						p.R974L	NM_001099415	NP_001092885	A8CG34	P121C_HUMAN			15	3806	-			1216			Pore side (Potential).		O75115|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000257665.5	37	c.2921G>T		.	.	.	.	.	.	.	.	.	.	C	18.87	3.714540	0.68730	.	.	ENSG00000135213	ENST00000257665;ENST00000453279	T;T	0.37915	2.65;1.17	2.87	2.87	0.33458	.	.	.	.	.	T	0.54775	0.1879	M	0.65975	2.015	0.37573	D	0.91949	D	0.76494	0.999	D	0.81914	0.995	T	0.63492	-0.6625	9	0.72032	D	0.01	.	11.2806	0.49192	0.0:1.0:0.0:0.0	.	1216	A8CG34	P121C_HUMAN	L	1216;974	ENSP00000257665:R1216L;ENSP00000414208:R974L	ENSP00000257665:R1216L	R	-	2	0	POM121C	74886058	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.548000	0.67255	1.596000	0.50062	0.400000	0.26472	CGA		0.592	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415	
COL1A2	1278	broad.mit.edu	37	7	94040399	94040399	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr7:94040399C>T	ENST00000297268.6	+	23	1754	c.1283C>T	c.(1282-1284)cCt>cTt	p.P428L		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	428					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)	GCAAGTGGCCCTGCTGGAGTC	0.507										HNSCC(75;0.22)																												uc003ung.1																		COL1A2/PLAG1(3)	0				soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(1282-1284)CCT>CTT		alpha 2 type I collagen precursor	Collagenase(DB00048)						50.0	49.0	49.0					7																	94040399		2203	4300	6503	SO:0001583	missense	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.chr7:94040399C>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.1283C>T	7.37:g.94040399C>T	ENSP00000297268:p.Pro428Leu	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron	p.P428L	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		23	1754	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		428					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.1283C>T	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.726144	0.30593	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.96885	-4.16	5.84	5.84	0.93424	.	0.246950	0.42053	D	0.000762	D	0.94850	0.8336	L	0.54908	1.71	0.58432	D	0.999998	B	0.29671	0.254	B	0.29716	0.106	D	0.92092	0.5681	10	0.21014	T	0.42	.	20.5276	0.99231	0.0:1.0:0.0:0.0	.	428	P08123	CO1A2_HUMAN	L	428;429	ENSP00000297268:P428L	ENSP00000297268:P428L	P	+	2	0	COL1A2	93878335	1.000000	0.71417	1.000000	0.80357	0.263000	0.26337	6.026000	0.70873	2.937000	0.99478	0.650000	0.86243	CCT		0.507	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089	
FEZF1	389549	broad.mit.edu	37	7	121943310	121943310	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr7:121943310C>T	ENST00000442488.2	-	2	924	c.857G>A	c.(856-858)aGa>aAa	p.R286K	FEZF1_ENST00000427185.2_Missense_Mutation_p.R236K|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.R282K|FEZF1-AS1_ENST00000437317.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	286					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						AACGAAGGGTCTGGCTCCTGT	0.468																																						uc003vkd.2																			0				ovary(2)|breast(1)	3						c.(856-858)AGA>AAA		FEZ family zinc finger 1 isoform 1							132.0	124.0	127.0					7																	121943310		2203	4300	6503	SO:0001583	missense	389549				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:121943310C>T	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.857G>A	7.37:g.121943310C>T	ENSP00000411145:p.Arg286Lys					FEZF1_uc003vkc.2_Missense_Mutation_p.R236K|uc010lko.1_5'Flank|uc003vkf.1_5'Flank	p.R286K	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN			2	931	-			286					A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	SNP	ENST00000442488.2	37	c.857G>A	CCDS34741.2	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545083	0.86022	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	T;T;T	0.12361	2.69;2.69;2.69	5.23	5.23	0.72850	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.106345	0.64402	D	0.000004	T	0.16257	0.0391	N	0.03253	-0.375	0.53688	D	0.999971	D;D	0.69078	0.997;0.996	D;D	0.79108	0.992;0.987	T	0.41520	-0.9504	10	0.11182	T	0.66	-3.8802	19.2154	0.93776	0.0:1.0:0.0:0.0	.	286;236	A0PJY2;A0PJY2-2	FEZF1_HUMAN;.	K	286;282;236	ENSP00000411145:R286K;ENSP00000332777:R282K;ENSP00000392727:R236K	ENSP00000332777:R282K	R	-	2	0	FEZF1	121730546	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.734000	0.84928	2.602000	0.87976	0.650000	0.86243	AGA		0.468	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613	
FGL1	2267	broad.mit.edu	37	8	17726236	17726236	+	Silent	SNP	G	G	A	rs142240316		TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr8:17726236G>A	ENST00000398056.2	-	9	1415	c.600C>T	c.(598-600)taC>taT	p.Y200Y	FGL1_ENST00000381840.2_Silent_p.Y200Y|FGL1_ENST00000381841.2_Silent_p.Y200Y|FGL1_ENST00000518650.1_Silent_p.Y200Y|FGL1_ENST00000427924.1_Silent_p.Y200Y|FGL1_ENST00000398054.1_Silent_p.Y200Y|FGL1_ENST00000522444.1_Silent_p.Y200Y			Q08830	FGL1_HUMAN	fibrinogen-like 1	200	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adipose tissue development (GO:0060612)|cholesterol metabolic process (GO:0008203)|regulation of glucose metabolic process (GO:0010906)|response to stilbenoid (GO:0035634)	extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)		p.Y200Y(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		TATTCAACTCGTAGAAATTCT	0.383																																						uc003wxx.2																			1	Substitution - coding silent(1)		large_intestine(1)		0						c.(598-600)TAC>TAT		fibrinogen-like 1 precursor		G	,,,	0,4406		0,0,2203	36.0	39.0	38.0		600,600,600,600	-0.9	0.1	8	dbSNP_134	38	1,8597		0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FGL1	NM_004467.3,NM_147203.2,NM_201552.1,NM_201553.1	,,,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,,,	200/313,200/313,200/313,200/313	17726236	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	2267				signal transduction	fibrinogen complex	receptor binding	g.chr8:17726236G>A	D14446	CCDS6004.1	8p22	2013-02-06			ENSG00000104760	ENSG00000104760		"""Fibrinogen C domain containing"""	3695	protein-coding gene	gene with protein product		605776				8390249	Standard	NM_004467		Approved	HFREP-1	uc003wyb.3	Q08830	OTTHUMG00000096989	ENST00000398056.2:c.600C>T	8.37:g.17726236G>A						FGL1_uc003wxy.2_Silent_p.Y200Y|FGL1_uc003wxz.2_Silent_p.Y199Y|FGL1_uc003wya.2_Silent_p.Y200Y|FGL1_uc003wyb.2_Silent_p.Y200Y|FGL1_uc003wyc.2_Silent_p.Y200Y|FGL1_uc003wyd.2_RNA|FGL1_uc003wye.2_Silent_p.Y250Y|FGL1_uc003wyf.2_Silent_p.Y170Y	p.Y200Y	NM_201553	NP_963847	Q08830	FGL1_HUMAN		Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)	8	924	-			200			Fibrinogen C-terminal.		A6NKU4|Q4PJH9|Q53YF1|Q8NG32|Q96KW6|Q96QM6	Silent	SNP	ENST00000398056.2	37	c.600C>T	CCDS6004.1																																																																																				0.383	FGL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375254.1	NM_004467	
DCAF4L2	138009	broad.mit.edu	37	8	88886046	88886046	+	Missense_Mutation	SNP	T	T	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr8:88886046T>A	ENST00000319675.3	-	1	250	c.154A>T	c.(154-156)Agc>Tgc	p.S52C		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	52										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TGCATGCAGCTTACACGCAGC	0.507																																						uc003ydz.2																			0				ovary(1)	1						c.(154-156)AGC>TGC		WD repeat domain 21C							114.0	103.0	106.0					8																	88886046		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88886046T>A	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.154A>T	8.37:g.88886046T>A	ENSP00000316496:p.Ser52Cys						p.S52C	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	251	-			52						Missense_Mutation	SNP	ENST00000319675.3	37	c.154A>T	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	T	11.25	1.582871	0.28268	.	.	ENSG00000176566	ENST00000319675	T	0.70749	-0.51	1.92	1.92	0.25849	WD40 repeat-like-containing domain (1);	0.147233	0.85682	D	0.000000	T	0.73481	0.3592	L	0.59436	1.845	0.09310	N	1	D	0.63880	0.993	P	0.59288	0.855	T	0.63093	-0.6714	10	0.87932	D	0	.	5.8839	0.18870	0.0:0.0:0.0:1.0	.	52	Q8NA75	DC4L2_HUMAN	C	52	ENSP00000316496:S52C	ENSP00000316496:S52C	S	-	1	0	DCAF4L2	88955162	0.988000	0.35896	0.011000	0.14972	0.070000	0.16714	2.287000	0.43505	0.627000	0.30340	0.383000	0.25322	AGC		0.507	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418	
LRRC24	441381	broad.mit.edu	37	8	145749853	145749853	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr8:145749853A>G	ENST00000529415.2	-	3	527	c.410T>C	c.(409-411)cTg>cCg	p.L137P	LRRC14_ENST00000292524.1_3'UTR|LRRC24_ENST00000533758.1_Missense_Mutation_p.L137P			Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24	137						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GAAATCCAGCAGCCGCGCCAG	0.662																																						uc003zdm.2																			0					0						c.(409-411)CTG>CCG		leucine rich repeat containing 24 precursor							12.0	16.0	15.0					8																	145749853		1800	3819	5619	SO:0001583	missense	441381					integral to membrane		g.chr8:145749853A>G	AB178281	CCDS34969.1	8q24.3	2013-01-11			ENSG00000254402	ENSG00000254402		"""Immunoglobulin superfamily / I-set domain containing"""	28947	protein-coding gene	gene with protein product						7584026	Standard	NM_001024678		Approved	LRRC14OS	uc003zdm.3	Q50LG9	OTTHUMG00000165180	ENST00000529415.2:c.410T>C	8.37:g.145749853A>G	ENSP00000434849:p.Leu137Pro					LRRC24_uc003zdn.2_Missense_Mutation_p.L137P|LRRC14_uc003zdk.1_3'UTR|LRRC14_uc003zdl.1_3'UTR|LRRC14_uc003zdo.2_RNA	p.L137P	NM_001024678	NP_001019849	Q50LG9	LRC24_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		3	542	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		137			LRR 4.			Missense_Mutation	SNP	ENST00000529415.2	37	c.410T>C	CCDS34969.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.886588	0.91814	.	.	ENSG00000254402	ENST00000529415;ENST00000533758	T;T	0.59502	0.26;4.0	4.84	4.84	0.62591	.	0.082948	0.49916	D	0.000135	T	0.76162	0.3949	M	0.83384	2.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	T	0.80162	-0.1497	10	0.87932	D	0	.	12.3951	0.55380	1.0:0.0:0.0:0.0	.	137;137	G3V1D8;Q50LG9	.;LRC24_HUMAN	P	137	ENSP00000434849:L137P;ENSP00000435653:L137P	ENSP00000434849:L137P	L	-	2	0	LRRC24	145720661	0.999000	0.42202	0.970000	0.41538	0.921000	0.55340	4.398000	0.59697	2.022000	0.59522	0.533000	0.62120	CTG		0.662	LRRC24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382501.2	NM_001024678	
ANXA2P2	304	broad.mit.edu	37	9	33625120	33625120	+	IGR	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr9:33625120G>A								TRBV20OR9-2 (6616 upstream) : TRBV21OR9-2 (3998 downstream)																							GCAAGGGGACGCGAGATAAGG	0.483																																						uc010mjx.2																			0					0						c.(847-849)ACG>ACA		annexin A2 isoform 2																																				SO:0001628	intergenic_variant	304							g.chr9:33625120G>A																													9.37:g.33625120G>A							p.T283T	NM_004039	NP_004030					1	898	+									Silent	SNP		37	c.849G>A																																																																																				0	0.483								
NUP188	23511	broad.mit.edu	37	9	131752466	131752466	+	Missense_Mutation	SNP	G	G	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr9:131752466G>T	ENST00000372577.2	+	25	2622	c.2601G>T	c.(2599-2601)ttG>ttT	p.L867F		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	867					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ACCCTGCTTTGCCACGTCTTG	0.448																																						uc004bws.1																			0				ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						c.(2599-2601)TTG>TTT		nucleoporin 188kDa							427.0	367.0	387.0					9																	131752466		2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131752466G>T	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.2601G>T	9.37:g.131752466G>T	ENSP00000361658:p.Leu867Phe					NUP188_uc004bwu.2_Missense_Mutation_p.L210F	p.L867F	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN			25	2623	+			867					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.2601G>T	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096479	0.76870	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.68903	-0.36	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.72938	0.3523	L	0.34521	1.04	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.74150	-0.3758	10	0.72032	D	0.01	-0.3351	12.1972	0.54305	0.0:0.1285:0.7382:0.1333	.	200;867	E9PET9;Q5SRE5	.;NU188_HUMAN	F	756;867	ENSP00000361658:L867F	ENSP00000349125:L756F	L	+	3	2	NUP188	130792287	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	0.837000	0.27558	2.894000	0.99253	0.655000	0.94253	TTG		0.448	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2		
BRD3	8019	broad.mit.edu	37	9	136913570	136913570	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr9:136913570C>T	ENST00000303407.7	-	6	906	c.721G>A	c.(721-723)Ggc>Agc	p.G241S	BRD3_ENST00000357885.2_Missense_Mutation_p.G241S|BRD3_ENST00000371834.2_Missense_Mutation_p.G241S	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	241					chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CGCTTCACGCCCTTTTTCTGC	0.627			T	C15orf55	lethal midline carcinoma of young people																																	uc004cew.2				Dom	yes		9	9q34	8019	T	bromodomain containing 3			E	NUT|C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	0				stomach(4)|midline_organs(3)|kidney(1)	8						c.(721-723)GGC>AGC		bromodomain containing protein 3							57.0	68.0	64.0					9																	136913570		2203	4299	6502	SO:0001583	missense	8019					nucleus	protein binding	g.chr9:136913570C>T		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"""RING3-like"""	601541	"""bromodomain-containing 3"""			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.721G>A	9.37:g.136913570C>T	ENSP00000305918:p.Gly241Ser					BRD3_uc004cex.2_Missense_Mutation_p.G241S	p.G241S	NM_007371	NP_031397	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	6	909	-			241					B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Missense_Mutation	SNP	ENST00000303407.7	37	c.721G>A	CCDS6980.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328365	0.81690	.	.	ENSG00000169925	ENST00000303407;ENST00000371834;ENST00000357885	T;T;T	0.10382	3.13;2.88;2.88	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.36138	0.0956	M	0.81179	2.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.13098	-1.0522	10	0.44086	T	0.13	-41.2586	17.1611	0.86803	0.0:1.0:0.0:0.0	.	241;241	Q15059-2;Q15059	.;BRD3_HUMAN	S	241	ENSP00000305918:G241S;ENSP00000360900:G241S;ENSP00000350557:G241S	ENSP00000305918:G241S	G	-	1	0	BRD3	135903391	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.464000	0.80887	2.291000	0.77112	0.561000	0.74099	GGC		0.627	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371	
ARSE	415	broad.mit.edu	37	X	2867360	2867360	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chrX:2867360G>A	ENST00000381134.3	-	6	905	c.839C>T	c.(838-840)gCg>gTg	p.A280V	ARSE_ENST00000545496.1_Missense_Mutation_p.A305V|ARSE_ENST00000540563.1_Missense_Mutation_p.A235V	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	280					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAGAAAGGACGCAACCTCCTG	0.488																																						uc004crc.3																			0				ovary(1)|central_nervous_system(1)	2						c.(838-840)GCG>GTG		arylsulfatase E precursor							63.0	54.0	57.0					X																	2867360		2203	4300	6503	SO:0001583	missense	415				skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding	g.chrX:2867360G>A	X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"""Arylsulfatase family"""	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.839C>T	X.37:g.2867360G>A	ENSP00000370526:p.Ala280Val					ARSE_uc011mhi.1_Missense_Mutation_p.A226V|ARSE_uc011mhh.1_Missense_Mutation_p.A305V	p.A280V	NM_000047	NP_000038	P51690	ARSE_HUMAN			6	1089	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	280					Q53FT2|Q53FU8	Missense_Mutation	SNP	ENST00000381134.3	37	c.839C>T	CCDS14122.1	.	.	.	.	.	.	.	.	.	.	g	0.011	-1.703425	0.00719	.	.	ENSG00000157399	ENST00000540563;ENST00000545496;ENST00000381134	D;D;D	0.92965	-3.14;-3.14;-3.14	3.54	-3.94	0.04130	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.743246	0.12593	N	0.455426	T	0.58538	0.2129	N	0.00119	-2.075	0.09310	N	1	B;B;B	0.12630	0.006;0.006;0.004	B;B;B	0.06405	0.001;0.002;0.001	T	0.66866	-0.5815	10	0.05525	T	0.97	.	4.2767	0.10813	0.3156:0.0:0.1911:0.4933	.	235;305;280	F5H324;F5GYY5;P51690	.;.;ARSE_HUMAN	V	235;305;280	ENSP00000438198:A235V;ENSP00000441417:A305V;ENSP00000370526:A280V	ENSP00000370526:A280V	A	-	2	0	ARSE	2877360	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.553000	0.06012	-0.949000	0.03663	-1.098000	0.02139	GCG		0.488	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047	
CACNA1F	778	broad.mit.edu	37	X	49065814	49065814	+	Silent	SNP	G	G	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chrX:49065814G>T	ENST00000376265.2	-	42	4955	c.4894C>A	c.(4894-4896)Cgg>Agg	p.R1632R	CACNA1F_ENST00000376251.1_Silent_p.R1567R|CACNA1F_ENST00000323022.5_Silent_p.R1621R	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1632					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	AGGGCCTGCCGCATCTCAGGA	0.572																																						uc004dnb.2																			0				breast(3)|ovary(1)|kidney(1)|skin(1)	6						c.(4894-4896)CGG>AGG		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						71.0	49.0	56.0					X																	49065814		2203	4299	6502	SO:0001819	synonymous_variant	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49065814G>T	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.4894C>A	X.37:g.49065814G>T						CACNA1F_uc010nip.2_Silent_p.R1621R	p.R1632R	NM_005183	NP_005174	O60840	CAC1F_HUMAN			42	4956	-			1632			Cytoplasmic (Potential).		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Silent	SNP	ENST00000376265.2	37	c.4894C>A	CCDS35253.1																																																																																				0.572	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183	
STARD8	9754	broad.mit.edu	37	X	67937331	67937331	+	Missense_Mutation	SNP	G	G	A	rs200556349		TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chrX:67937331G>A	ENST00000252336.6	+	5	707	c.335G>A	c.(334-336)gGc>gAc	p.G112D	STARD8_ENST00000374597.3_Missense_Mutation_p.G112D|STARD8_ENST00000374599.3_Missense_Mutation_p.G192D	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	112					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CCCACCCAGGGCCAGGAGGGT	0.637													g|||	1	0.000264901	0.0	0.0	3775	,	,		13085	0.001		0.0	False		,,,				2504	0.0					uc004dxa.2																			0				breast(3)|ovary(2)|pancreas(1)	6						c.(334-336)GGC>GAC		StAR-related lipid transfer (START) domain							48.0	46.0	46.0					X																	67937331		2202	4299	6501	SO:0001583	missense	9754				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	g.chrX:67937331G>A	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.335G>A	X.37:g.67937331G>A	ENSP00000252336:p.Gly112Asp					STARD8_uc004dxb.2_Missense_Mutation_p.G192D|STARD8_uc004dxc.3_Missense_Mutation_p.G112D	p.G112D	NM_014725	NP_055540	Q92502	STAR8_HUMAN			5	707	+			112					A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	37	c.335G>A	CCDS14390.1	1	6.027727546714888E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	0.669	-0.802872	0.02841	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.08102	3.13;3.16;3.13	4.39	0.352	0.16051	.	0.524687	0.18606	N	0.136285	T	0.04952	0.0133	L	0.27053	0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.43621	-0.9380	10	0.18710	T	0.47	.	6.8809	0.24173	0.4674:0.0:0.5326:0.0	.	192;112	Q92502-2;Q92502	.;STAR8_HUMAN	D	112;192;112	ENSP00000252336:G112D;ENSP00000363727:G192D;ENSP00000363725:G112D	ENSP00000252336:G112D	G	+	2	0	STARD8	67854056	0.000000	0.05858	0.010000	0.14722	0.451000	0.32288	0.179000	0.16840	0.013000	0.14918	-0.195000	0.12781	GGC		0.637	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725	
CXorf57	55086	broad.mit.edu	37	X	105855563	105855563	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chrX:105855563G>A	ENST00000372548.4	+	1	362	c.253G>A	c.(253-255)Gac>Aac	p.D85N	CXorf57_ENST00000372544.2_Missense_Mutation_p.D85N	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	85							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TGAGCCACGCGACACGGTGCC	0.572																																						uc004emi.3																			0				ovary(1)|lung(1)|breast(1)	3						c.(253-255)GAC>AAC		hypothetical protein LOC55086							99.0	86.0	91.0					X																	105855563		2203	4300	6503	SO:0001583	missense	55086							g.chrX:105855563G>A	AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.253G>A	X.37:g.105855563G>A	ENSP00000361628:p.Asp85Asn					CXorf57_uc004emj.3_Missense_Mutation_p.D85N|CXorf57_uc004emh.2_Missense_Mutation_p.D85N	p.D85N	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN			1	404	+			85					H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Missense_Mutation	SNP	ENST00000372548.4	37	c.253G>A	CCDS14519.1	.	.	.	.	.	.	.	.	.	.	G	2.980	-0.210521	0.06140	.	.	ENSG00000147231	ENST00000372544;ENST00000372548	T;T	0.80033	-1.33;-1.33	4.0	2.21	0.28008	Nucleic acid-binding, OB-fold-like (1);	0.436351	0.20493	N	0.091242	T	0.63200	0.2491	L	0.31294	0.92	0.09310	N	1	B;B;B	0.24132	0.098;0.098;0.098	B;B;B	0.14023	0.01;0.01;0.007	T	0.42565	-0.9444	10	0.10902	T	0.67	-9.8566	7.2847	0.26330	0.2374:0.0:0.7626:0.0	.	85;85;85	A8K6R5;Q6NSI4;Q6NSI4-2	.;CX057_HUMAN;.	N	85	ENSP00000361623:D85N;ENSP00000361628:D85N	ENSP00000361623:D85N	D	+	1	0	CXorf57	105742219	0.001000	0.12720	0.004000	0.12327	0.210000	0.24377	0.545000	0.23268	0.834000	0.34852	0.600000	0.82982	GAC		0.572	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	NM_018015	
ZNF280C	55609	broad.mit.edu	37	X	129354388	129354388	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chrX:129354388G>A	ENST00000370978.4	-	13	1615	c.1462C>T	c.(1462-1464)Cat>Tat	p.H488Y		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	488					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(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TGCGCCTTATGTTCAGCTTTC	0.383																																						uc004evm.2																			0				skin(2)|ovary(1)	3						c.(1462-1464)CAT>TAT		zinc finger protein 280C							139.0	126.0	130.0					X																	129354388		2203	4300	6503	SO:0001583	missense	55609				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:129354388G>A	AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 3 (Drosophila)"""	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.1462C>T	X.37:g.129354388G>A	ENSP00000360017:p.His488Tyr					ZNF280C_uc010nrf.1_Missense_Mutation_p.H439Y	p.H488Y	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN			13	1616	-			488			C2H2-type 5.		A8K2V8|Q9NXR3	Missense_Mutation	SNP	ENST00000370978.4	37	c.1462C>T	CCDS14622.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264994	0.40095	.	.	ENSG00000056277	ENST00000066465;ENST00000370978;ENST00000447817	T;T	0.13538	2.59;2.58	3.81	3.81	0.43845	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.35537	0.0935	M	0.76170	2.325	0.41573	D	0.98869	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.982	T	0.24440	-1.0160	9	0.87932	D	0	.	12.53	0.56109	0.0:0.0:1.0:0.0	.	439;488	Q9UJJ2;Q8ND82	.;Z280C_HUMAN	Y	439;488;439	ENSP00000360017:H488Y;ENSP00000408521:H439Y	ENSP00000066465:H439Y	H	-	1	0	ZNF280C	129182069	1.000000	0.71417	0.017000	0.16124	0.071000	0.16799	9.033000	0.93741	1.894000	0.54839	0.416000	0.27883	CAT		0.383	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1	NM_017666	
