#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
TRIM62	55223	broad.mit.edu	37	1	33625475	33625475	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr1:33625475C>T	ENST00000291416.5	-	3	808	c.575G>A	c.(574-576)cGc>cAc	p.R192H	TRIM62_ENST00000543586.1_Missense_Mutation_p.R71H|TRIM62_ENST00000485148.1_5'UTR	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	192					innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				GGCCTTCTGGCGTTCACGCAG	0.652																																						uc001bxb.2																			0					0						c.(574-576)CGC>CAC		tripartite motif-containing 62							43.0	46.0	45.0					1																	33625475		2203	4300	6503	SO:0001583	missense	55223					intracellular	zinc ion binding	g.chr1:33625475C>T	BC007999	CCDS376.1	1p35.1	2013-10-11	2011-01-25		ENSG00000116525	ENSG00000116525		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	25574	protein-coding gene	gene with protein product	"""ductal epithelium-associated RING Chromosome 1"""		"""tripartite motif-containing 62"""			19536326	Standard	NM_018207		Approved	FLJ10759, DEAR1	uc001bxb.3	Q9BVG3	OTTHUMG00000004132	ENST00000291416.5:c.575G>A	1.37:g.33625475C>T	ENSP00000291416:p.Arg192His						p.R192H	NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN			3	1213	-		Myeloproliferative disorder(586;0.0393)	192			Potential.		B3KVH5|B4DTE4|D3DPR1|Q9NVG0	Missense_Mutation	SNP	ENST00000291416.5	37	c.575G>A	CCDS376.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175117	0.78564	.	.	ENSG00000116525	ENST00000291416;ENST00000373432;ENST00000373430;ENST00000543586	T;T	0.44083	0.93;0.93	4.5	3.59	0.41128	.	0.069094	0.64402	D	0.000018	T	0.40347	0.1113	L	0.27053	0.805	0.58432	D	0.999999	D	0.67145	0.996	P	0.53185	0.72	T	0.35549	-0.9784	10	0.72032	D	0.01	.	11.0216	0.47722	0.0:0.9053:0.0:0.0947	.	192	Q9BVG3	TRI62_HUMAN	H	192;192;192;71	ENSP00000291416:R192H;ENSP00000441173:R71H	ENSP00000291416:R192H	R	-	2	0	TRIM62	33398062	1.000000	0.71417	1.000000	0.80357	0.518000	0.34316	6.893000	0.75649	1.203000	0.43233	-0.140000	0.14226	CGC		0.652	TRIM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011890.1	NM_018207	
TIE1	7075	broad.mit.edu	37	1	43779028	43779028	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr1:43779028G>A	ENST00000372476.3	+	13	2229	c.2150G>A	c.(2149-2151)cGc>cAc	p.R717H	TIE1_ENST00000433781.2_Missense_Mutation_p.R362H|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	717	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TACCTCTTCCGCATGCGGGCC	0.657																																						uc001ciu.2																			0				lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7						c.(2149-2151)CGC>CAC		tyrosine kinase with immunoglobulin-like and							125.0	109.0	114.0					1																	43779028		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43779028G>A	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2150G>A	1.37:g.43779028G>A	ENSP00000361554:p.Arg717His					TIE1_uc010okd.1_Missense_Mutation_p.R717H|TIE1_uc010oke.1_Missense_Mutation_p.R672H|TIE1_uc009vwq.2_Missense_Mutation_p.R673H|TIE1_uc010okf.1_Missense_Mutation_p.R362H|TIE1_uc010okg.1_Missense_Mutation_p.R362H	p.R717H	NM_005424	NP_005415	P35590	TIE1_HUMAN			13	2229	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	717			Fibronectin type-III 3.|Extracellular (Potential).		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.2150G>A	CCDS482.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.943188	0.92526	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000433781	T;T	0.60920	0.15;0.15	5.57	5.57	0.84162	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.40144	N	0.001171	T	0.73329	0.3573	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.994;0.999;1.0;0.998;0.999	T	0.66551	-0.5895	10	0.18276	T	0.48	.	19.54	0.95270	0.0:0.0:1.0:0.0	.	362;672;717;362;717	E9PG63;B4DTW8;B5A952;B4DKW0;P35590	.;.;.;.;TIE1_HUMAN	H	717;120;362	ENSP00000361554:R717H;ENSP00000411728:R362H	ENSP00000361553:R120H	R	+	2	0	TIE1	43551615	1.000000	0.71417	0.994000	0.49952	0.523000	0.34469	9.578000	0.98200	2.618000	0.88619	0.655000	0.94253	CGC		0.657	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424	
ZNHIT6	54680	broad.mit.edu	37	1	86173500	86173504	+	Frame_Shift_Del	DEL	CTTCT	CTTCT	-	rs574654163		TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr1:86173500_86173504delCTTCT	ENST00000370574.3	-	1	597_601	c.464_468delAGAAG	c.(463-468)gagaagfs	p.EK155fs	ZNHIT6_ENST00000431532.2_Frame_Shift_Del_p.EK116fs			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	155	Glu-rich.				box C/D snoRNP assembly (GO:0000492)|ribosome biogenesis (GO:0042254)	extracellular vesicular exosome (GO:0070062)|pre-snoRNP complex (GO:0070761)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						CCAAGTTATCCTTCTCTTCCTTCAC	0.41																																						uc001dlh.2																			0				large_intestine(1)	1						c.(463-468)GAGAAGfs		zinc finger, HIT type 6																																				SO:0001589	frameshift_variant	54680				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding	g.chr1:86173500_86173504delCTTCT	AL442074	CCDS707.1, CCDS53338.1	1p22.3	2013-01-17	2010-09-15	2008-06-23	ENSG00000117174	ENSG00000117174		"""Zinc fingers, HIT-type"""	26089	protein-coding gene	gene with protein product	"""box C/D snoRNA essential 1 homolog (S. cerevisiae)"""		"""chromosome 1 open reading frame 181"", ""zinc finger, HIT type 6"""	C1orf181		12747765	Standard	NM_017953		Approved	FLJ20729, NY-BR-75, BCD1	uc001dlh.3	Q9NWK9	OTTHUMG00000010576	ENST00000370574.3:c.464_468delAGAAG	1.37:g.86173500_86173504delCTTCT	ENSP00000359606:p.Glu155fs					ZNHIT6_uc010osc.1_Frame_Shift_Del_p.E116fs	p.E155fs	NM_017953	NP_060423	Q9NWK9	BCD1_HUMAN			1	598_602	-			155_156			Glu-rich.		B2RBA1|B4DP13|D3DT20|Q9H278|Q9H3X3|Q9NWN0	Frame_Shift_Del	DEL	ENST00000370574.3	37	c.464_468delAGAAG	CCDS707.1																																																																																				0.410	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029186.1	NM_017953	
FLG2	388698	broad.mit.edu	37	1	152325024	152325024	+	Silent	SNP	T	T	C			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr1:152325024T>C	ENST00000388718.5	-	3	5310	c.5238A>G	c.(5236-5238)ggA>ggG	p.G1746G	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1746					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGAGTGTGTCCTGAATGTG	0.502																																						uc001ezw.3																			0				ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(5236-5238)GGA>GGG		filaggrin family member 2							418.0	368.0	385.0					1																	152325024		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152325024T>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5238A>G	1.37:g.152325024T>C						uc001ezv.2_Intron	p.G1746G	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5311	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1746					Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.5238A>G	CCDS30861.1																																																																																				0.502	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342	
F5	2153	broad.mit.edu	37	1	169484809	169484809	+	Missense_Mutation	SNP	G	G	A	rs199601865		TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr1:169484809G>A	ENST00000367797.3	-	24	6602	c.6401C>T	c.(6400-6402)aCg>aTg	p.T2134M	F5_ENST00000367796.3_Missense_Mutation_p.T2139M	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2134	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TATAATTGCCGTTATCTTCTT	0.388																																						uc001ggg.1																			0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(6400-6402)ACG>ATG		coagulation factor V precursor	Drotrecogin alfa(DB00055)	G	MET/THR	0,4406		0,0,2203	139.0	131.0	134.0		6401	5.6	1.0	1		134	1,8599	1.2+/-3.3	0,1,4299	yes	missense	F5	NM_000130.4	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	2134/2225	169484809	1,13005	2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169484809G>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.6401C>T	1.37:g.169484809G>A	ENSP00000356771:p.Thr2134Met						p.T2134M	NM_000130	NP_000121	P12259	FA5_HUMAN			24	6546	-	all_hematologic(923;0.208)		2134			F5/8 type C 2.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.6401C>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.237075	0.58886	0.0	1.16E-4	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.98531	-4.98;-4.98	5.61	5.61	0.85477	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.99105	0.9692	M	0.86502	2.82	0.46654	D	0.999149	D	0.89917	1.0	D	0.97110	1.0	D	0.99824	1.1049	9	0.87932	D	0	-20.207	19.223	0.93806	0.0:0.0:1.0:0.0	.	2134	P12259	FA5_HUMAN	M	2134;2139	ENSP00000356771:T2134M;ENSP00000356770:T2139M	ENSP00000356770:T2139M	T	-	2	0	F5	167751433	1.000000	0.71417	0.965000	0.40720	0.256000	0.26092	6.240000	0.72363	2.635000	0.89317	0.467000	0.42956	ACG		0.388	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130	
SELE	6401	broad.mit.edu	37	1	169698774	169698774	+	Silent	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr1:169698774G>A	ENST00000333360.7	-	6	895	c.756C>T	c.(754-756)ttC>ttT	p.F252F	C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367782.4_Silent_p.F252F|SELE_ENST00000367780.4_Silent_p.F190F|SELE_ENST00000367775.1_Silent_p.F190F|SELE_ENST00000367779.4_Silent_p.F252F|SELE_ENST00000367774.1_Silent_p.F252F|SELE_ENST00000367781.4_Silent_p.F252F|SELE_ENST00000367776.1_Silent_p.F252F|SELE_ENST00000367777.1_Silent_p.F252F	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	252	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)	p.F252F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	AACATTCCACGAACCCATTGG	0.428																																						uc001ggm.3																			1	Substitution - coding silent(1)		large_intestine(1)	ovary(3)|skin(2)	5						c.(754-756)TTC>TTT		selectin E precursor							118.0	112.0	114.0					1																	169698774		2203	4300	6503	SO:0001819	synonymous_variant	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169698774G>A	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.756C>T	1.37:g.169698774G>A						C1orf112_uc001ggj.2_Intron	p.F252F	NM_000450	NP_000441	P16581	LYAM2_HUMAN			6	913	-	all_hematologic(923;0.208)		252			Sushi 2.|Extracellular (Potential).		A2RRD6|P16111	Silent	SNP	ENST00000333360.7	37	c.756C>T	CCDS1283.1																																																																																				0.428	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450	
CFAP70	118491	broad.mit.edu	37	10	75051125	75051125	+	Missense_Mutation	SNP	G	G	A	rs141991496		TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr10:75051125G>A	ENST00000310715.3	-	20	2428	c.2308C>T	c.(2308-2310)Cgg>Tgg	p.R770W	TTC18_ENST00000394865.1_Missense_Mutation_p.R770W|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000401621.2_Missense_Mutation_p.R770W|TTC18_ENST00000355577.3_Missense_Mutation_p.R239W	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		770						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TGAAGCATCCGTGCCTGAAGC	0.423																																						uc009xrc.2																			0				ovary(2)|central_nervous_system(1)	3						c.(2308-2310)CGG>TGG		tetratricopeptide repeat domain 18		G	TRP/ARG	0,4406		0,0,2203	186.0	168.0	174.0		2308	3.4	0.3	10	dbSNP_134	174	2,8598	2.2+/-6.3	0,2,4298	no	missense	TTC18	NM_145170.3	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	770/1122	75051125	2,13004	2203	4300	6503	SO:0001583	missense	118491						binding	g.chr10:75051125G>A																												ENST00000310715.3:c.2308C>T	10.37:g.75051125G>A	ENSP00000310829:p.Arg770Trp					TTC18_uc001jty.2_Missense_Mutation_p.R770W|TTC18_uc001jtv.3_Translation_Start_Site|TTC18_uc001jtw.3_Translation_Start_Site|TTC18_uc001jtx.2_Missense_Mutation_p.R151W	p.R770W	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN			20	2429	-	Prostate(51;0.0119)		770					C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Missense_Mutation	SNP	ENST00000310715.3	37	c.2308C>T	CCDS7324.3	.	.	.	.	.	.	.	.	.	.	G	16.50	3.139400	0.56936	0.0	2.33E-4	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000433268;ENST00000394865	T;T;T;T	0.34072	1.76;1.76;1.4;1.38	5.32	3.37	0.38596	.	1.364340	0.04451	N	0.372639	T	0.38665	0.1049	M	0.64997	1.995	0.09310	N	1	D	0.63046	0.992	B	0.42653	0.394	T	0.27157	-1.0082	10	0.39692	T	0.17	-7.9559	7.4894	0.27452	0.0895:0.0:0.747:0.1635	.	770	Q5T0N1	TTC18_HUMAN	W	770;770;770;177;770	ENSP00000310829:R770W;ENSP00000384479:R770W;ENSP00000409527:R177W;ENSP00000378334:R770W	ENSP00000310829:R770W	R	-	1	2	TTC18	74721131	0.092000	0.21681	0.324000	0.25361	0.179000	0.23085	1.945000	0.40273	1.388000	0.46506	-0.194000	0.12790	CGG		0.423	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
MMP21	118856	broad.mit.edu	37	10	127462500	127462500	+	Silent	SNP	C	C	T	rs138636566		TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr10:127462500C>T	ENST00000368808.3	-	2	596	c.597G>A	c.(595-597)gcG>gcA	p.A199A		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	199					hematopoietic progenitor cell differentiation (GO:0002244)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)			Marimastat(DB00786)	TGAAGGCCAGCGCCACAATGC	0.701																																						uc001liu.2																			0				ovary(2)	2						c.(595-597)GCG>GCA		matrix metalloproteinase 21 preproprotein							13.0	15.0	14.0					10																	127462500		2114	4164	6278	SO:0001819	synonymous_variant	118856				proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:127462500C>T	AF331526	CCDS7647.1	10q26.3	2008-07-28	2005-08-08		ENSG00000154485	ENSG00000154485			14357	protein-coding gene	gene with protein product		608416	"""matrix metalloproteinase 21"""			11255011	Standard	NM_147191		Approved		uc001liu.3	Q8N119	OTTHUMG00000019235	ENST00000368808.3:c.597G>A	10.37:g.127462500C>T							p.A199A	NM_147191	NP_671724	Q8N119	MMP21_HUMAN			2	597	-		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	199					Q5VZP9|Q8NG02	Silent	SNP	ENST00000368808.3	37	c.597G>A	CCDS7647.1																																																																																				0.701	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050928.1		
CNGA4	1262	broad.mit.edu	37	11	6261559	6261559	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr11:6261559G>A	ENST00000379936.2	+	4	650	c.535G>A	c.(535-537)Gtc>Atc	p.V179I	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	179					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATTTTTGTCGTCATCCATTG	0.597																																						uc001mco.2																			0				skin(1)	1						c.(535-537)GTC>ATC		cyclic nucleotide gated channel alpha 4							67.0	66.0	67.0					11																	6261559		2201	4296	6497	SO:0001583	missense	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6261559G>A	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.535G>A	11.37:g.6261559G>A	ENSP00000369268:p.Val179Ile					CNGA4_uc010raa.1_Intron|CNGA4_uc001mcn.2_Missense_Mutation_p.V139I	p.V179I	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	642	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	179			Helical; Name=H4; (Potential).			Missense_Mutation	SNP	ENST00000379936.2	37	c.535G>A	CCDS31408.1	.	.	.	.	.	.	.	.	.	.	G	4.933	0.173386	0.09391	.	.	ENSG00000132259	ENST00000379936	D	0.97066	-4.23	5.25	5.25	0.73442	Ion transport (1);	0.127145	0.53938	D	0.000059	D	0.83505	0.5269	N	0.00178	-1.915	0.31759	N	0.633604	B;B	0.31413	0.322;0.063	B;B	0.19148	0.024;0.012	T	0.80968	-0.1145	10	0.02654	T	1	.	17.7596	0.88461	0.0:0.0:1.0:0.0	.	179;139	Q8IV77;Q8IV77-2	CNGA4_HUMAN;.	I	179	ENSP00000369268:V179I	ENSP00000369268:V179I	V	+	1	0	CNGA4	6218135	0.796000	0.28864	0.992000	0.48379	0.996000	0.88848	1.288000	0.33296	2.602000	0.87976	0.650000	0.86243	GTC		0.597	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329	
RAG2	5897	broad.mit.edu	37	11	36614338	36614338	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr11:36614338G>T	ENST00000311485.3	-	2	1542	c.1381C>A	c.(1381-1383)Ctg>Atg	p.L461M	C11orf74_ENST00000347206.4_5'Flank|RAG2_ENST00000528428.1_5'Flank|C11orf74_ENST00000446510.2_5'Flank|C11orf74_ENST00000334307.5_5'Flank|C11orf74_ENST00000534635.1_5'Flank	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	461					B cell differentiation (GO:0030183)|chromatin modification (GO:0016568)|pre-B cell allelic exclusion (GO:0002331)|T cell differentiation in thymus (GO:0033077)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				CGTTCTGCCAGATCCATGCAC	0.498									Familial Hemophagocytic Lymphohistiocytosis																													uc001mwv.3																			0				skin(3)|ovary(1)|pancreas(1)	5						c.(1381-1383)CTG>ATG		recombination activating gene 2							132.0	112.0	118.0					11																	36614338		2202	4298	6500	SO:0001583	missense	5897	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding	g.chr11:36614338G>T	AF080577	CCDS7903.1	11p13	2014-09-17				ENSG00000175097			9832	protein-coding gene	gene with protein product		179616				1283330	Standard	NM_000536		Approved		uc001mwv.4	P55895		ENST00000311485.3:c.1381C>A	11.37:g.36614338G>T	ENSP00000308620:p.Leu461Met					RAG1_uc001mwt.2_Intron|C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank	p.L461M	NM_000536	NP_000527	P55895	RAG2_HUMAN			2	1569	-	all_lung(20;0.226)	all_hematologic(20;0.00756)	461			PHD-type; atypical.		A8K9E9|Q8TBL4	Missense_Mutation	SNP	ENST00000311485.3	37	c.1381C>A	CCDS7903.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.863646	0.51482	.	.	ENSG00000175097	ENST00000311485	D	0.97642	-4.47	5.37	3.07	0.35406	.	0.000000	0.64402	D	0.000001	D	0.97964	0.9330	M	0.79475	2.455	0.47584	D	0.999464	D	0.89917	1.0	D	0.87578	0.998	D	0.98227	1.0481	10	0.87932	D	0	-3.5775	11.6252	0.51139	0.1898:0.0:0.8102:0.0	.	461	P55895	RAG2_HUMAN	M	461	ENSP00000308620:L461M	ENSP00000308620:L461M	L	-	1	2	RAG2	36570914	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.353000	0.66034	1.376000	0.46267	0.650000	0.86243	CTG		0.498	RAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389536.1	NM_000536	
ACCS	84680	broad.mit.edu	37	11	44105037	44105037	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr11:44105037G>A	ENST00000263776.8	+	14	1752	c.1318G>A	c.(1318-1320)Gtg>Atg	p.V440M		NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	440					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						GGACAACAAGGTGCTGCTGTC	0.572																																					Esophageal Squamous(158;148 1889 8077 23160 41213)	uc009yks.1																			0				breast(2)|ovary(1)|lung(1)	4						c.(1318-1320)GTG>ATG		1-aminocyclopropane-1-carboxylate synthase							87.0	76.0	80.0					11																	44105037		2203	4300	6503	SO:0001583	missense	84680						1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44105037G>A	AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.1318G>A	11.37:g.44105037G>A	ENSP00000263776:p.Val440Met					EXT2_uc010rfo.1_Intron|ACCS_uc001mxx.2_Missense_Mutation_p.V440M	p.V440M	NM_001127219	NP_001120691	Q96QU6	1A1L1_HUMAN			14	1462	+			440					B4E219|Q8WUL4|Q96LX5	Missense_Mutation	SNP	ENST00000263776.8	37	c.1318G>A	CCDS7907.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486936	0.84854	.	.	ENSG00000110455	ENST00000263776	T	0.35421	1.31	5.91	5.91	0.95273	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.065663	0.64402	D	0.000010	T	0.68888	0.3050	M	0.89163	3.01	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.73300	-0.4026	10	0.72032	D	0.01	-22.573	19.8936	0.96942	0.0:0.0:1.0:0.0	.	440	Q96QU6	1A1L1_HUMAN	M	440	ENSP00000263776:V440M	ENSP00000263776:V440M	V	+	1	0	ACCS	44061613	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	4.933000	0.63484	2.793000	0.96121	0.655000	0.94253	GTG		0.572	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592	
OR5L2	26338	broad.mit.edu	37	11	55594870	55594870	+	Missense_Mutation	SNP	T	T	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr11:55594870T>A	ENST00000378397.1	+	1	176	c.176T>A	c.(175-177)gTg>gAg	p.V59E		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	59			V -> M (in dbSNP:rs56711116).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CACACCCCCGTGTACTTTTTC	0.468										HNSCC(27;0.073)																												uc001nhy.1																			0				ovary(1)	1						c.(175-177)GTG>GAG		olfactory receptor, family 5, subfamily L,							242.0	224.0	230.0					11																	55594870		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55594870T>A	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.176T>A	11.37:g.55594870T>A	ENSP00000367650:p.Val59Glu	HNSCC(27;0.073)					p.V59E	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			1	176	+		all_epithelial(135;0.208)	59			Helical; Name=2; (Potential).		Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.176T>A	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	13.11	2.137872	0.37728	.	.	ENSG00000205030	ENST00000378397	T	0.03152	4.03	5.31	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000012	T	0.04770	0.0129	L	0.39245	1.2	0.22446	N	0.99909	B	0.20164	0.042	B	0.26969	0.075	T	0.29610	-1.0006	10	0.87932	D	0	-56.956	10.4867	0.44726	0.0:0.0777:0.0:0.9223	.	59	Q8NGL0	OR5L2_HUMAN	E	59	ENSP00000367650:V59E	ENSP00000367650:V59E	V	+	2	0	OR5L2	55351446	1.000000	0.71417	1.000000	0.80357	0.468000	0.32798	4.709000	0.61867	0.989000	0.38761	0.509000	0.49947	GTG		0.468	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739	
SLC22A9	114571	broad.mit.edu	37	11	63174115	63174115	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr11:63174115G>A	ENST00000279178.3	+	7	1469	c.1220G>A	c.(1219-1221)cGa>cAa	p.R407Q	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	407					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						ATGAACCGTCGAGCAAGCCAG	0.483																																						uc001nww.2																			0				breast(2)|large_intestine(1)	3						c.(1219-1221)CGA>CAA		solute carrier family 22 (organic anion/cation							169.0	128.0	142.0					11																	63174115		2201	4298	6499	SO:0001583	missense	114571				transmembrane transport	integral to membrane		g.chr11:63174115G>A	AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"""Solute carriers"""	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.1220G>A	11.37:g.63174115G>A	ENSP00000279178:p.Arg407Gln					SLC22A9_uc001nwx.2_RNA	p.R407Q	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN			7	1488	+			407			Cytoplasmic (Potential).		A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP	ENST00000279178.3	37	c.1220G>A	CCDS8043.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.232676	0.58777	.	.	ENSG00000149742	ENST00000279178	T	0.62788	-0.0	3.05	-1.29	0.09288	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.070621	0.64402	N	0.000017	T	0.71178	0.3309	M	0.79343	2.45	0.09310	N	1	D	0.65815	0.995	D	0.63793	0.918	T	0.63765	-0.6563	10	0.72032	D	0.01	.	7.4477	0.27221	0.5528:0.0:0.4472:0.0	.	407	Q8IVM8	S22A9_HUMAN	Q	407	ENSP00000279178:R407Q	ENSP00000279178:R407Q	R	+	2	0	SLC22A9	62930691	0.002000	0.14202	0.000000	0.03702	0.461000	0.32589	1.132000	0.31418	-0.424000	0.07382	0.205000	0.17691	CGA		0.483	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866	
STYK1	55359	broad.mit.edu	37	12	10772903	10772903	+	Missense_Mutation	SNP	C	C	T	rs554694983		TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr12:10772903C>T	ENST00000075503.3	-	11	1629	c.1109G>A	c.(1108-1110)cGc>cAc	p.R370H		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	370	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						AGGTGAGGGGCGGTCAGCCTC	0.527										HNSCC(73;0.22)			C|||	1	0.000199681	0.0	0.0	5008	,	,		17944	0.001		0.0	False		,,,				2504	0.0					uc001qys.2																			0				central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8						c.(1108-1110)CGC>CAC		serine/threonine/tyrosine kinase 1							120.0	127.0	125.0					12																	10772903		2203	4300	6503	SO:0001583	missense	55359					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr12:10772903C>T	AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.1109G>A	12.37:g.10772903C>T	ENSP00000075503:p.Arg370His	HNSCC(73;0.22)					p.R370H	NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN			11	1630	-			370			Protein kinase.		B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Missense_Mutation	SNP	ENST00000075503.3	37	c.1109G>A	CCDS8629.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.246355	0.80024	.	.	ENSG00000060140	ENST00000075503	D	0.90732	-2.72	5.28	5.28	0.74379	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000003	D	0.97359	0.9136	H	0.98276	4.19	0.49915	D	0.999835	D	0.89917	1.0	D	0.97110	1.0	D	0.98894	1.0774	10	0.87932	D	0	-14.5174	16.3911	0.83541	0.0:1.0:0.0:0.0	.	370	Q6J9G0	STYK1_HUMAN	H	370	ENSP00000075503:R370H	ENSP00000075503:R370H	R	-	2	0	STYK1	10664170	0.996000	0.38824	0.894000	0.35097	0.664000	0.39144	5.025000	0.64097	2.471000	0.83476	0.563000	0.77884	CGC		0.527	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399622.1	NM_018423	
TMEM5	10329	broad.mit.edu	37	12	64202634	64202634	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr12:64202634C>T	ENST00000261234.6	+	6	1252	c.1094C>T	c.(1093-1095)aCa>aTa	p.T365I	TMEM5_ENST00000537373.1_Missense_Mutation_p.T105I|TMEM5-AS1_ENST00000546214.1_RNA	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	365						integral component of plasma membrane (GO:0005887)				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		TGTGGGAATACATCTGTGCAC	0.478																																						uc001srq.1																			0					0						c.(1093-1095)ACA>ATA		transmembrane protein 5							145.0	130.0	135.0					12																	64202634		2203	4300	6503	SO:0001583	missense	10329					integral to plasma membrane		g.chr12:64202634C>T	AB015633	CCDS8966.1, CCDS61179.1	12q14.1	2013-05-07			ENSG00000118600	ENSG00000118600			13530	protein-coding gene	gene with protein product		605862				10072769, 23217329	Standard	NM_014254		Approved	HP10481	uc001srq.2	Q9Y2B1	OTTHUMG00000168730	ENST00000261234.6:c.1094C>T	12.37:g.64202634C>T	ENSP00000261234:p.Thr365Ile					TMEM5_uc001srr.1_Missense_Mutation_p.T262I|TMEM5_uc001srs.1_Missense_Mutation_p.T105I	p.T365I	NM_014254	NP_055069	Q9Y2B1	TMEM5_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)	6	1198	+		Myeloproliferative disorder(1001;0.0255)	365			Extracellular (Potential).		A8K017|Q6PKD6	Missense_Mutation	SNP	ENST00000261234.6	37	c.1094C>T	CCDS8966.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410759	0.25465	.	.	ENSG00000118600	ENST00000261234;ENST00000537373	.	.	.	4.87	4.87	0.63330	.	0.458216	0.25321	N	0.031513	T	0.51007	0.1649	L	0.51422	1.61	0.20489	N	0.999898	P;P	0.36837	0.571;0.571	B;B	0.42692	0.225;0.395	T	0.46062	-0.9218	8	.	.	.	-20.4369	18.8922	0.92408	0.0:1.0:0.0:0.0	.	105;365	G3V1K2;Q9Y2B1	.;TMEM5_HUMAN	I	365;105	.	.	T	+	2	0	TMEM5	62488901	0.106000	0.21978	0.010000	0.14722	0.034000	0.12701	4.247000	0.58750	2.646000	0.89796	0.491000	0.48974	ACA		0.478	TMEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400821.1	NM_014254	
OAS2	4939	broad.mit.edu	37	12	113447011	113447011	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr12:113447011G>T	ENST00000342315.4	+	10	2229	c.2015G>T	c.(2014-2016)gGg>gTg	p.G672V	OAS2_ENST00000392583.2_Missense_Mutation_p.G672V|RP1-71H24.1_ENST00000552784.1_RNA	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	672	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TTCAAGGATGGGACTGGAAAC	0.502																																					Pancreas(199;709 2232 18410 33584 35052)	uc001tuj.2																			0				ovary(1)	1						c.(2014-2016)GGG>GTG		2'-5'-oligoadenylate synthetase 2 isoform 1							238.0	230.0	233.0					12																	113447011		2203	4300	6503	SO:0001583	missense	4939				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113447011G>T	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.2015G>T	12.37:g.113447011G>T	ENSP00000342278:p.Gly672Val					OAS2_uc001tui.1_Missense_Mutation_p.G672V	p.G672V	NM_016817	NP_058197	P29728	OAS2_HUMAN			10	2155	+			672			OAS domain 2.		A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	ENST00000342315.4	37	c.2015G>T	CCDS31906.1	.	.	.	.	.	.	.	.	.	.	.	14.26	2.481841	0.44147	.	.	ENSG00000111335	ENST00000342315;ENST00000392583	T;T	0.44083	0.93;0.93	4.39	0.51	0.16983	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	1.631060	0.03836	N	0.269831	T	0.50684	0.1630	L	0.59436	1.845	0.09310	N	0.999999	P;P	0.50369	0.864;0.934	P;P	0.52554	0.702;0.696	T	0.32402	-0.9908	10	0.42905	T	0.14	-19.517	6.665	0.23035	0.4076:0.0:0.5924:0.0	.	672;672	P29728;P29728-2	OAS2_HUMAN;.	V	672	ENSP00000342278:G672V;ENSP00000376362:G672V	ENSP00000342278:G672V	G	+	2	0	OAS2	111931394	0.011000	0.17503	0.000000	0.03702	0.331000	0.28603	0.547000	0.23299	-0.077000	0.12752	-0.777000	0.03380	GGG		0.502	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1		
FREM2	341640	broad.mit.edu	37	13	39422735	39422735	+	Missense_Mutation	SNP	C	C	T	rs368450271		TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr13:39422735C>T	ENST00000280481.7	+	8	6523	c.6307C>T	c.(6307-6309)Cgc>Tgc	p.R2103C	FREM2_ENST00000482551.1_3'UTR	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2103	Calx-beta 3.				cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ACTGGTGCTTCGCATGCCTAT	0.463																																						uc001uwv.2																			0				ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(6307-6309)CGC>TGC		FRAS1-related extracellular matrix protein 2		C	CYS/ARG	0,4406		0,0,2203	110.0	107.0	108.0		6307	5.4	1.0	13		108	1,8599	1.2+/-3.3	0,1,4299	no	missense	FREM2	NM_207361.4	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	2103/3170	39422735	1,13005	2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39422735C>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.6307C>T	13.37:g.39422735C>T	ENSP00000280481:p.Arg2103Cys					FREM2_uc001uww.2_Missense_Mutation_p.R189C	p.R2103C	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	8	6616	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2103			Extracellular (Potential).|Calx-beta 3.		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.6307C>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167166	0.78339	0.0	1.16E-4	ENSG00000150893	ENST00000280481	T	0.27720	1.65	5.37	5.37	0.77165	Na-Ca exchanger/integrin-beta4 (1);	0.056796	0.64402	D	0.000001	T	0.60235	0.2253	M	0.86651	2.83	0.80722	D	1	D;B	0.89917	1.0;0.376	D;B	0.71184	0.972;0.117	T	0.67106	-0.5754	10	0.87932	D	0	.	14.8911	0.70609	0.1523:0.8477:0.0:0.0	.	2103;2103	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	C	2103	ENSP00000280481:R2103C	ENSP00000280481:R2103C	R	+	1	0	FREM2	38320735	0.969000	0.33509	1.000000	0.80357	0.853000	0.48598	2.387000	0.44389	2.546000	0.85860	0.650000	0.86243	CGC		0.463	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361	
MED4	29079	broad.mit.edu	37	13	48669208	48669208	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr13:48669208C>T	ENST00000258648.2	-	1	32	c.7G>A	c.(7-9)Gcg>Acg	p.A3T	MED4_ENST00000378586.1_5'UTR	NM_014166.3	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	3					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		CTCGAAGACGCAGCCATTTTC	0.662											OREG0022406	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(38;399 1016 9170 13426 20145)	uc001vby.1																			0				ovary(1)	1						c.(7-9)GCG>ACG		mediator complex subunit 4							47.0	42.0	44.0					13																	48669208		2203	4300	6503	SO:0001583	missense	29079				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr13:48669208C>T	AF161475	CCDS9408.1, CCDS59241.1	13q14.12	2008-02-05	2007-07-30	2004-11-09	ENSG00000136146	ENSG00000136146			17903	protein-coding gene	gene with protein product		605718	"""vitamin D receptor interacting protein"", ""mediator of RNA polymerase II transcription, subunit 4 homolog (S. cerevisiae)"""	VDRIP		10235266, 11042152	Standard	NM_014166		Approved	HSPC126, DRIP36, TRAP36	uc001vby.2	Q9NPJ6	OTTHUMG00000016891	ENST00000258648.2:c.7G>A	13.37:g.48669208C>T	ENSP00000258648:p.Ala3Thr		OREG0022406	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	956	MED4_uc010tge.1_Missense_Mutation_p.A3T|MED4_uc010tgf.1_5'UTR	p.A3T	NM_014166	NP_054885	Q9NPJ6	MED4_HUMAN		GBM - Glioblastoma multiforme(144;5.18e-07)	1	33	-		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)	3					B4DX67|Q53GB4|Q53H68|Q5T912|Q6FHC4|Q6IA79|Q9BS95|Q9NYR5	Missense_Mutation	SNP	ENST00000258648.2	37	c.7G>A	CCDS9408.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294936	0.60086	.	.	ENSG00000136146	ENST00000258648	.	.	.	4.93	4.08	0.47627	.	0.154342	0.44285	D	0.000472	T	0.51466	0.1676	L	0.40543	1.245	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.54497	-0.8285	9	0.87932	D	0	-9.2862	10.791	0.46432	0.0:0.9075:0.0:0.0925	.	3	Q9NPJ6	MED4_HUMAN	T	3	.	ENSP00000258648:A3T	A	-	1	0	MED4	47567209	0.999000	0.42202	1.000000	0.80357	0.606000	0.37113	2.101000	0.41787	2.714000	0.92807	0.655000	0.94253	GCG		0.662	MED4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044863.1	NM_014166	
RNY4P30	100862673	broad.mit.edu	37	13	50464759	50464759	+	RNA	SNP	C	C	G	rs553455756		TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr13:50464759C>G	ENST00000410216.1	-	0	0									RNA, Ro-associated Y4 pseudogene 30																		CTCAGCCTTACTGGGGGCTGG	0.617																																						uc001vdk.2																			0					0						c.(31-33)TAC>TAG		Homo sapiens CTAGE family, member 5 pseudogene, mRNA (cDNA clone IMAGE:5270026).																																						220429							g.chr13:50464759C>G			13q14.2	2011-08-03			ENSG00000222148	ENSG00000222148			42498	pseudogene	RNA, pseudogene							Standard	NG_032103		Approved						13.37:g.50464759C>G							p.Y11*	NR_003268						1	215	+									Nonsense_Mutation	SNP	ENST00000410216.1	37	c.33C>G																																																																																					0.617	RNY4P30-201	KNOWN	basic	misc_RNA	misc_RNA			
ABCC4	10257	broad.mit.edu	37	13	95715015	95715015	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr13:95715015G>C	ENST00000376887.4	-	26	3423	c.3309C>G	c.(3307-3309)atC>atG	p.I1103M	ABCC4_ENST00000412704.1_Missense_Mutation_p.I1056M	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1103	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	CAGTTGTCAAGATCTTATCAA	0.423																																						uc001vmd.3																			0				central_nervous_system(3)|skin(1)	4						c.(3307-3309)ATC>ATG		ATP-binding cassette, sub-family C, member 4	Cefazolin(DB01327)						129.0	121.0	124.0					13																	95715015		2203	4300	6503	SO:0001583	missense	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95715015G>C	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.3309C>G	13.37:g.95715015G>C	ENSP00000366084:p.Ile1103Met					ABCC4_uc010afj.2_Translation_Start_Site|ABCC4_uc010afk.2_Missense_Mutation_p.I1056M	p.I1103M	NM_005845	NP_005836	O15439	MRP4_HUMAN			26	3428	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		1103			ABC transporter 2.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	c.3309C>G	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.999293	0.35226	.	.	ENSG00000125257	ENST00000412704;ENST00000376887	D;D	0.93811	-3.29;-3.29	6.16	5.15	0.70609	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.446678	0.26190	N	0.025811	D	0.93605	0.7958	L	0.46670	1.46	0.80722	D	1	P;P	0.43973	0.823;0.635	P;B	0.56612	0.802;0.41	D	0.91531	0.5242	10	0.39692	T	0.17	.	10.9559	0.47358	0.186:0.0:0.814:0.0	.	1056;1103	O15439-2;O15439	.;MRP4_HUMAN	M	1056;1103	ENSP00000388657:I1056M;ENSP00000366084:I1103M	ENSP00000366084:I1103M	I	-	3	3	ABCC4	94513016	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.452000	0.44961	2.937000	0.99478	0.650000	0.86243	ATC		0.423	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845	
RTN1	6252	broad.mit.edu	37	14	60212584	60212584	+	Missense_Mutation	SNP	G	G	A	rs377312291		TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr14:60212584G>A	ENST00000267484.5	-	2	1192	c.857C>T	c.(856-858)aCg>aTg	p.T286M		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	286					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TTCTATTTCCGTCAGTGTGAT	0.458																																						uc001xen.1																			0				ovary(2)|central_nervous_system(2)	4						c.(856-858)ACG>ATG		reticulon 1 isoform A							113.0	106.0	109.0					14																	60212584		2203	4300	6503	SO:0001583	missense	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60212584G>A	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.857C>T	14.37:g.60212584G>A	ENSP00000267484:p.Thr286Met						p.T286M	NM_021136	NP_066959	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	2	1066	-			286					Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	c.857C>T	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812030	0.70797	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.39056	1.1	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.67287	0.2877	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70160	-0.4948	10	0.87932	D	0	.	19.4571	0.94897	0.0:0.0:1.0:0.0	.	286	Q16799	RTN1_HUMAN	M	286;212	ENSP00000267484:T286M	ENSP00000267484:T286M	T	-	2	0	RTN1	59282337	1.000000	0.71417	0.956000	0.39512	0.775000	0.43874	5.413000	0.66399	2.588000	0.87417	0.557000	0.71058	ACG		0.458	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2		
SLC25A47	283600	broad.mit.edu	37	14	100795869	100795869	+	Missense_Mutation	SNP	C	C	T	rs145556108		TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr14:100795869C>T	ENST00000361529.3	+	6	892	c.814C>T	c.(814-816)Cgg>Tgg	p.R272W	SLC25A47_ENST00000557052.1_Missense_Mutation_p.R126W	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	272					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						GGAGGGACCCCGGGTCCTTTT	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		17412	0.0		0.0	False		,,,				2504	0.001				GBM(11;1289 1351)	uc001yhc.2																			0					0						c.(814-816)CGG>TGG		chromosome 14 open reading frame 68		C	TRP/ARG	0,4406		0,0,2203	65.0	71.0	69.0		814	-8.0	0.0	14	dbSNP_134	69	7,8593	5.0+/-18.6	0,7,4293	yes	missense	SLC25A47	NM_207117.2	101	0,7,6496	TT,TC,CC		0.0814,0.0,0.0538	probably-damaging	272/309	100795869	7,12999	2203	4300	6503	SO:0001583	missense	283600				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr14:100795869C>T		CCDS9959.1	14q32.2	2013-05-22	2010-07-19	2010-07-19	ENSG00000140107	ENSG00000140107		"""Solute carriers"""	20115	protein-coding gene	gene with protein product		609911	"""chromosome 14 open reading frame 68"""	C14orf68			Standard	NM_207117		Approved		uc001yhc.3	Q6Q0C1	OTTHUMG00000171571	ENST00000361529.3:c.814C>T	14.37:g.100795869C>T	ENSP00000354886:p.Arg272Trp					C14orf68_uc001yhd.2_Missense_Mutation_p.R126W	p.R272W	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN			6	887	+		Melanoma(154;0.152)	272			Solcar 3.		B2RP39|Q68CL2|Q6PZD8|Q86U14	Missense_Mutation	SNP	ENST00000361529.3	37	c.814C>T	CCDS9959.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.708160	0.48412	0.0	8.14E-4	ENSG00000140107	ENST00000361529;ENST00000557052	T;T	0.80994	-1.44;-1.44	5.38	-8.0	0.01126	Mitochondrial carrier domain (2);	0.290655	0.39083	N	0.001467	D	0.85630	0.5741	M	0.88570	2.965	0.09310	N	0.999999	D	0.60575	0.988	P	0.61722	0.893	T	0.81219	-0.1032	10	0.72032	D	0.01	-5.8274	11.1557	0.48486	0.7503:0.1133:0.0717:0.0648	.	272	Q6Q0C1	S2547_HUMAN	W	272;126	ENSP00000354886:R272W;ENSP00000451078:R126W	ENSP00000354886:R272W	R	+	1	2	SLC25A47	99865622	0.002000	0.14202	0.000000	0.03702	0.046000	0.14306	0.855000	0.27805	-1.096000	0.03046	-0.324000	0.08512	CGG		0.637	SLC25A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414231.1		
AHNAK2	113146	broad.mit.edu	37	14	105417146	105417146	+	Missense_Mutation	SNP	C	C	T	rs369187097	byFrequency	TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr14:105417146C>T	ENST00000333244.5	-	7	4761	c.4642G>A	c.(4642-4644)Gct>Act	p.A1548T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1548						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.A1548S(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCAGGTCAGCAGAAGGGGGC	0.642													.|||	2	0.000399361	0.0	0.0	5008	,	,		14574	0.0		0.0	False		,,,				2504	0.002					uc010axc.1																			1	Substitution - Missense(1)		endometrium(1)	ovary(1)	1						c.(4642-4644)GCT>ACT		AHNAK nucleoprotein 2		C	THR/ALA	1,3829		0,1,1914	106.0	103.0	104.0		4642	-2.8	0.0	14		104	0,8162		0,0,4081	no	missense	AHNAK2	NM_138420.2	58	0,1,5995	TT,TC,CC		0.0,0.0261,0.0083	possibly-damaging	1548/5796	105417146	1,11991	1915	4081	5996	SO:0001583	missense	113146					nucleus		g.chr14:105417146C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.4642G>A	14.37:g.105417146C>T	ENSP00000353114:p.Ala1548Thr					AHNAK2_uc001ypx.2_Missense_Mutation_p.A1448T	p.A1548T	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	4762	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1548					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.4642G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	15.97	2.988922	0.53934	2.61E-4	0.0	ENSG00000185567	ENST00000333244	T	0.00912	5.55	4.16	-2.84	0.05751	.	.	.	.	.	T	0.01029	0.0034	L	0.61387	1.9	0.09310	N	1	B	0.28713	0.22	B	0.22880	0.042	T	0.41288	-0.9517	9	0.27785	T	0.31	-15.4243	3.9889	0.09529	0.2547:0.4426:0.0:0.3027	.	1548	Q8IVF2	AHNK2_HUMAN	T	1548	ENSP00000353114:A1548T	ENSP00000353114:A1548T	A	-	1	0	AHNAK2	104488191	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.677000	0.01944	-0.793000	0.04475	-0.350000	0.07774	GCT		0.642	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
HERC2P3	283755	broad.mit.edu	37	15	20644280	20644280	+	RNA	SNP	G	G	A	rs539550422	byFrequency	TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr15:20644280G>A	ENST00000428453.1	-	0	3283							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GGAGTGCAGCGTGTGCAGCAG	0.632													.|||	2	0.000399361	0.0	0.0	5008	,	,		28381	0.0		0.0	False		,,,				2504	0.002					uc001ytg.2																			0											c.(2593-2595)ACG>ATG		RecName: Full=Putative HERC2-like protein 3;																																						0							g.chr15:20644280G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644280G>A						uc010tyx.1_RNA|uc001yth.3_Missense_Mutation_p.T865M	p.T865M							22	3303	-									Missense_Mutation	SNP	ENST00000428453.1	37	c.2594C>T																																																																																					0.632	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269	
ATP10A	57194	broad.mit.edu	37	15	25966826	25966827	+	Frame_Shift_Ins	INS	-	-	AC			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr15:25966826_25966827insAC	ENST00000356865.6	-	7	1451_1452	c.1340_1341insGT	c.(1339-1341)gtafs	p.V447fs		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	447					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GAGAATATTCTACACCAGACAC	0.46																																						uc010ayu.2																			0				pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(1339-1341)GTAfs		ATPase, class V, type 10A																																				SO:0001589	frameshift_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25966826_25966827insAC	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1339_1340dupGT	15.37:g.25966829_25966830dupAC	ENSP00000349325:p.Val447fs						p.V447fs	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	7	1446_1447	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	447			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Frame_Shift_Ins	INS	ENST00000356865.6	37	c.1340_1341insGT	CCDS32178.1																																																																																				0.460	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490	
CYP11A1	1583	broad.mit.edu	37	15	74635350	74635350	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr15:74635350C>T	ENST00000268053.6	-	5	1112	c.958G>A	c.(958-960)Gtc>Atc	p.V320I	CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000358632.4_Missense_Mutation_p.V162I|CYP11A1_ENST00000419019.2_Missense_Mutation_p.V162I	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	320					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	ATCTCTGTGACGTTGGCCTTG	0.602																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	uc002axt.2																			0				ovary(2)	2						c.(958-960)GTC>ATC		cytochrome P450, family 11, subfamily A,	Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)						141.0	108.0	119.0					15																	74635350		2197	4296	6493	SO:0001583	missense	1583				C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	g.chr15:74635350C>T	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.958G>A	15.37:g.74635350C>T	ENSP00000268053:p.Val320Ile					CYP11A1_uc002axs.2_Missense_Mutation_p.V162I|CYP11A1_uc010bjm.1_Missense_Mutation_p.V162I|CYP11A1_uc010bjn.1_RNA|CYP11A1_uc010bjo.1_Missense_Mutation_p.V320I|CYP11A1_uc010bjp.1_Intron|CYP11A1_uc010ulj.1_Missense_Mutation_p.V100I	p.V320I	NM_000781	NP_000772	P05108	CP11A_HUMAN			5	1113	-			320					A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	ENST00000268053.6	37	c.958G>A	CCDS32291.1	.	.	.	.	.	.	.	.	.	.	C	3.661	-0.069470	0.07228	.	.	ENSG00000140459	ENST00000268053;ENST00000358632;ENST00000419019;ENST00000452422	T;T;T	0.71934	-0.61;-0.61;-0.61	4.46	-5.98	0.02220	.	0.400154	0.28589	N	0.014807	T	0.44705	0.1306	N	0.17345	0.48	0.20764	N	0.999856	B;B	0.18013	0.025;0.003	B;B	0.21360	0.034;0.024	T	0.43032	-0.9416	10	0.06365	T	0.9	-21.0828	14.4151	0.67145	0.0:0.5877:0.0:0.4123	.	290;320	B4DTE5;P05108	.;CP11A_HUMAN	I	320;162;162;85	ENSP00000268053:V320I;ENSP00000351455:V162I;ENSP00000405488:V162I	ENSP00000268053:V320I	V	-	1	0	CYP11A1	72422403	0.000000	0.05858	0.000000	0.03702	0.253000	0.25986	-0.994000	0.03716	-1.199000	0.02666	0.442000	0.29010	GTC		0.602	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1		
WASH3P	374666	broad.mit.edu	37	15	102516373	102516373	+	RNA	SNP	C	C	T	rs200028478		TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr15:102516373C>T	ENST00000557932.1	+	0	1321				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.P432P(1)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						GTGAGGGGCCCGGAGGAGCCT	0.662																																						uc002cdi.2																			1	Substitution - coding silent(1)		prostate(1)		0						c.(697-699)CCC>CCT		RecName: Full=WAS protein family homolog 2; AltName: Full=Protein FAM39B; AltName: Full=CXYorf1-like protein on chromosome 2;																																						374666							g.chr15:102516373C>T			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102516373C>T						WASH3P_uc002cdl.2_Silent_p.P233P|WASH3P_uc002cdk.2_RNA|WASH3P_uc002cdp.2_Silent_p.P233P|WASH3P_uc010bpo.2_RNA|WASH3P_uc002cdq.2_RNA|WASH3P_uc002cdr.2_RNA	p.P233P	NR_003659						11	2119	+									Silent	SNP	ENST00000557932.1	37	c.699C>T																																																																																					0.662	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163	
WDR90	197335	broad.mit.edu	37	16	703407	703407	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr16:703407G>A	ENST00000293879.4	+	11	1189	c.1189G>A	c.(1189-1191)Gtg>Atg	p.V397M	WDR90_ENST00000549091.1_Missense_Mutation_p.V397M|LA16c-349E10.1_ENST00000573609.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90	397										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CGTCCTGCTCGTGGACACGGG	0.701																																						uc002cii.1																			0				ovary(1)	1						c.(1189-1191)GTG>ATG		WD repeat domain 90							37.0	46.0	43.0					16																	703407		2078	4194	6272	SO:0001583	missense	197335							g.chr16:703407G>A	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.1189G>A	16.37:g.703407G>A	ENSP00000293879:p.Val397Met					WDR90_uc002cig.1_Missense_Mutation_p.V397M|WDR90_uc002cih.1_Missense_Mutation_p.V398M|WDR90_uc002cij.1_RNA|WDR90_uc002cik.1_5'Flank	p.V397M	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN			11	1243	+		Hepatocellular(780;0.0218)	397					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.1189G>A	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036745	0.54896	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.01369	4.97;4.97	4.8	-9.61	0.00550	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	1.121530	0.07064	U	0.834285	T	0.04543	0.0124	M	0.83774	2.66	0.09310	N	0.999992	D;D;D	0.63046	0.992;0.987;0.992	P;P;P	0.56514	0.8;0.499;0.599	T	0.00172	-1.1958	10	0.49607	T	0.09	.	8.817	0.35002	0.5806:0.2354:0.184:0.0	.	397;398;397	Q96KV7;C9JMK1;Q96KV7-3	WDR90_HUMAN;.;.	M	397	ENSP00000448122:V397M;ENSP00000293879:V397M	ENSP00000293879:V397M	V	+	1	0	WDR90	643408	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.749000	0.04813	-2.552000	0.00479	-0.258000	0.10820	GTG		0.701	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294	
TMEM186	25880	broad.mit.edu	37	16	8890029	8890029	+	Missense_Mutation	SNP	C	C	T	rs563605311	byFrequency	TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr16:8890029C>T	ENST00000333050.6	-	2	455	c.422G>A	c.(421-423)cGg>cAg	p.R141Q	PMM2_ENST00000268261.4_5'Flank|TMEM186_ENST00000564869.1_Intron|PMM2_ENST00000566983.1_Intron|PMM2_ENST00000539622.1_5'Flank|PMM2_ENST00000537352.1_5'Flank|PMM2_ENST00000569958.1_5'Flank	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN	transmembrane protein 186	141						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						ATGGGCCACCCGCAGCATGGT	0.557													C|||	3	0.000599042	0.0	0.0	5008	,	,		20579	0.0		0.0	False		,,,				2504	0.0031					uc002cze.2																			0				ovary(1)	1						c.(421-423)CGG>CAG		transmembrane protein 186							98.0	92.0	94.0					16																	8890029		2197	4300	6497	SO:0001583	missense	25880					integral to membrane|mitochondrion		g.chr16:8890029C>T	BC015912	CCDS10535.1	16p13.2	2008-02-05	2007-02-08	2007-02-08	ENSG00000184857	ENSG00000184857			24530	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 51"""	C16orf51		11230166	Standard	NM_015421		Approved	DKFZP564K2062	uc002cze.3	Q96B77	OTTHUMG00000129696	ENST00000333050.6:c.422G>A	16.37:g.8890029C>T	ENSP00000331640:p.Arg141Gln					PMM2_uc002czf.3_5'Flank|PMM2_uc010uyf.1_5'Flank|PMM2_uc010uyg.1_5'Flank|PMM2_uc010uyh.1_5'Flank|PMM2_uc010buj.2_5'Flank|PMM2_uc010uyi.1_5'Flank|PMM2_uc010uye.1_5'Flank	p.R141Q	NM_015421	NP_056236	Q96B77	TM186_HUMAN			2	456	-			141					B2RAY0|Q9Y4T4	Missense_Mutation	SNP	ENST00000333050.6	37	c.422G>A	CCDS10535.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.470604	0.63625	.	.	ENSG00000184857	ENST00000333050	T	0.45276	0.9	5.28	4.33	0.51752	.	0.205916	0.23966	N	0.042809	T	0.39989	0.1099	M	0.73962	2.25	0.80722	D	1	P	0.46952	0.887	B	0.39258	0.295	T	0.42413	-0.9453	10	0.66056	D	0.02	-4.984	7.4506	0.27235	0.0:0.7455:0.0:0.2545	.	141	Q96B77	TM186_HUMAN	Q	141	ENSP00000331640:R141Q	ENSP00000331640:R141Q	R	-	2	0	TMEM186	8797530	0.982000	0.34865	0.985000	0.45067	0.432000	0.31715	1.600000	0.36762	1.234000	0.43709	0.491000	0.48974	CGG		0.557	TMEM186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251903.1	NM_015421	
MMP2	4313	broad.mit.edu	37	16	55525753	55525753	+	Silent	SNP	C	C	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr16:55525753C>T	ENST00000219070.4	+	8	1730	c.1221C>T	c.(1219-1221)caC>caT	p.H407H	MMP2_ENST00000570308.1_Silent_p.H331H|MMP2_ENST00000437642.2_Silent_p.H357H|MMP2_ENST00000543485.1_Silent_p.H331H	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	407	Collagenase-like 2.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	AGTTTGGCCACGCCATGGGGC	0.577																																						uc002ehz.3																			0				large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11						c.(1219-1221)CAC>CAT		matrix metalloproteinase 2 isoform a	Marimastat(DB00786)|Sulindac(DB00605)						66.0	63.0	64.0					16																	55525753		2198	4300	6498	SO:0001819	synonymous_variant	4313				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55525753C>T		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1221C>T	16.37:g.55525753C>T						MMP2_uc010vhd.1_Silent_p.H331H|MMP2_uc010ccc.2_Silent_p.H357H|MMP2_uc002eia.3_5'Flank	p.H407H	NM_004530	NP_004521	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	8	1532	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	407			Collagenase-like 2.	Zinc 2; catalytic (By similarity).	B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Silent	SNP	ENST00000219070.4	37	c.1221C>T	CCDS10752.1																																																																																				0.577	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3		
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank	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	
GAS7	8522	broad.mit.edu	37	17	9822945	9822945	+	Silent	SNP	A	A	G			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr17:9822945A>G	ENST00000432992.2	-	12	1376	c.1216T>C	c.(1216-1218)Ttg>Ctg	p.L406L	GAS7_ENST00000579158.1_Silent_p.L342L|GAS7_ENST00000542249.1_Silent_p.L342L|GAS7_ENST00000396115.2_Intron|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000437099.2_Silent_p.L342L|GAS7_ENST00000580865.1_Silent_p.L266L|GAS7_ENST00000585266.1_Silent_p.L346L|GAS7_ENST00000323816.4_Silent_p.L346L	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	406					actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						CCGCTTACCAATGTGGTGGTC	0.567			T	MLL	AML*																																	uc002gmg.1				Dom	yes		17	17p	8522	T	growth arrest-specific 7			L	MLL		AML*		0				lung(1)|pancreas(1)	2						c.(1216-1218)TTG>CTG		growth arrest-specific 7 isoform c							201.0	173.0	183.0					17																	9822945		2203	4300	6503	SO:0001819	synonymous_variant	8522				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	g.chr17:9822945A>G	AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.1216T>C	17.37:g.9822945A>G						GAS7_uc010vvc.1_Silent_p.L220L|GAS7_uc002gmh.1_Silent_p.L266L|GAS7_uc010vvd.1_Silent_p.L358L|GAS7_uc002gmi.2_Silent_p.L342L|GAS7_uc002gmj.1_Silent_p.L346L|GAS7_uc010coh.1_Silent_p.L346L	p.L406L	NM_201433	NP_958839	O60861	GAS7_HUMAN			12	1377	-			406			Potential.		A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Silent	SNP	ENST00000432992.2	37	c.1216T>C	CCDS11152.1																																																																																				0.567	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433	
NF1	4763	broad.mit.edu	37	17	29587504	29587504	+	Silent	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr17:29587504G>A	ENST00000358273.4	+	34	4931	c.4548G>A	c.(4546-4548)gaG>gaA	p.E1516E	NF1_ENST00000356175.3_Silent_p.E1495E	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1516					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACAATCAGGAGAAAATTGGGC	0.388			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		12	Whole gene deletion(8)|Unknown(4)	p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(4546-4548)GAG>GAA		neurofibromin isoform 1							161.0	152.0	155.0					17																	29587504		2203	4300	6503	SO:0001819	synonymous_variant	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29587504G>A		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4548G>A	17.37:g.29587504G>A		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Silent_p.E1495E|NF1_uc002hgi.1_Silent_p.E528E	p.E1516E	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	34	4881	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1516					O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	ENST00000358273.4	37	c.4548G>A	CCDS42292.1																																																																																				0.388	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
KRT9	3857	broad.mit.edu	37	17	39724810	39724810	+	Missense_Mutation	SNP	G	G	A	rs116216460	byFrequency	TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr17:39724810G>A	ENST00000246662.4	-	5	1185	c.1120C>T	c.(1120-1122)Cgg>Tgg	p.R374W	KRT9_ENST00000588431.1_Missense_Mutation_p.R141W	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	374	Coil 2.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				ACACCGTGCCGGAGCTGGGTC	0.547																																						uc002hxe.3																			0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1120-1122)CGG>TGG		keratin 9		G	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	287.0	271.0	277.0		1120	0.6	0.1	17	dbSNP_132	277	17,8583	12.6+/-44.7	0,17,4283	yes	missense	KRT9	NM_000226.3	101	0,19,6484	AA,AG,GG		0.1977,0.0454,0.1461	probably-damaging	374/624	39724810	19,12987	2203	4300	6503	SO:0001583	missense	3857				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	g.chr17:39724810G>A		CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6447	protein-coding gene	gene with protein product	"""cytokeratin 9"", ""type I cytoskeletal 9"", ""epidermolytic palmoplantar keratoderma"""	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.1120C>T	17.37:g.39724810G>A	ENSP00000246662:p.Arg374Trp					JUP_uc010wfs.1_Intron	p.R374W	NM_000226	NP_000217	P35527	K1C9_HUMAN			5	1186	-		Breast(137;0.000307)	374			Rod.|Coil 2.		O00109|Q0IJ47|Q14665	Missense_Mutation	SNP	ENST00000246662.4	37	c.1120C>T	CCDS32654.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.535278	0.64972	4.54E-4	0.001977	ENSG00000171403	ENST00000246662	D	0.92149	-2.98	5.15	0.585	0.17428	Filament (1);	0.304329	0.18190	N	0.148859	D	0.91202	0.7228	M	0.92649	3.33	0.09310	N	1	B	0.30236	0.274	B	0.26094	0.066	D	0.85544	0.1217	10	0.87932	D	0	.	4.1908	0.10419	0.2528:0.0:0.4257:0.3215	.	374	P35527	K1C9_HUMAN	W	374	ENSP00000246662:R374W	ENSP00000246662:R374W	R	-	1	2	KRT9	36978336	0.000000	0.05858	0.061000	0.19648	0.351000	0.29236	0.349000	0.20055	0.133000	0.18654	-0.224000	0.12420	CGG		0.547	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257707.1	NM_000226	
MUC16	94025	broad.mit.edu	37	19	9088857	9088857	+	Silent	SNP	T	T	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr19:9088857T>A	ENST00000397910.4	-	1	3161	c.2958A>T	c.(2956-2958)tcA>tcT	p.S986S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	986	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGCAGAGGTTGAAACAGTGG	0.463																																						uc002mkp.2																			0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(2956-2958)TCA>TCT		mucin 16							266.0	252.0	257.0					19																	9088857		1991	4163	6154	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9088857T>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.2958A>T	19.37:g.9088857T>A							p.S986S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	3162	-			986			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.2958A>T	CCDS54212.1																																																																																				0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
CYP4F12	66002	broad.mit.edu	37	19	15791225	15791225	+	Missense_Mutation	SNP	G	G	A	rs375976293		TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr19:15791225G>A	ENST00000550308.1	+	5	801	c.421G>A	c.(421-423)Ggt>Agt	p.G141S	CYP4F12_ENST00000324632.10_Missense_Mutation_p.G141S	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	141					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	GCTGAGTGGCGGTGACAAGTG	0.552													.|||	1	0.000199681	0.0	0.0	5008	,	,		19097	0.001		0.0	False		,,,				2504	0.0					uc002nbl.2																			0				skin(3)|ovary(2)|central_nervous_system(2)	7						c.(421-423)GGT>AGT		cytochrome P450, family 4, subfamily F,							26.0	31.0	29.0					19																	15791225		2202	4296	6498	SO:0001583	missense	66002							g.chr19:15791225G>A	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.421G>A	19.37:g.15791225G>A	ENSP00000448998:p.Gly141Ser					CYP4F12_uc010xoo.1_Missense_Mutation_p.G141S|CYP4F12_uc010xop.1_Missense_Mutation_p.R172Q	p.G141S	NM_023944	NP_076433					5	482	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	c.421G>A	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	12.63	1.995802	0.35226	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	D;D	0.84146	-1.81;-1.81	2.92	1.81	0.25067	.	0.075619	0.52532	U	0.000078	D	0.91895	0.7434	H	0.94542	3.55	0.28665	N	0.9059	D;P	0.65815	0.995;0.678	P;P	0.59825	0.864;0.51	D	0.86071	0.1538	10	0.72032	D	0.01	.	8.1676	0.31237	0.1311:0.0:0.8689:0.0	.	141;141	B4E270;Q9HCS2	.;CP4FC_HUMAN	S	141	ENSP00000448998:G141S;ENSP00000321821:G141S	ENSP00000321821:G141S	G	+	1	0	CYP4F12	15652225	1.000000	0.71417	0.048000	0.18961	0.003000	0.03518	7.064000	0.76721	0.514000	0.28300	0.491000	0.48974	GGT		0.552	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9		
CAD	790	broad.mit.edu	37	2	27459352	27459352	+	Silent	SNP	C	C	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr2:27459352C>T	ENST00000403525.1	+	25	4230	c.4086C>T	c.(4084-4086)ccC>ccT	p.P1362P	CAD_ENST00000264705.4_Silent_p.P1425P			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCCGTGCCCCTAATCATCG	0.557																																						uc002rji.2																			0				ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10						c.(4273-4275)CCC>CCT		carbamoylphosphate synthetase 2/aspartate	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						61.0	62.0	61.0					2																	27459352		2203	4300	6503	SO:0001819	synonymous_variant	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27459352C>T	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.4086C>T	2.37:g.27459352C>T						CAD_uc010eyw.2_Silent_p.P1362P	p.P1425P	NM_004341	NP_004332	P27708	PYR1_HUMAN			26	4437	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1425			CPSase B.|CPSase (Carbamoyl-phosphate synthase).		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	ENST00000403525.1	37	c.4275C>T		.	.	.	.	.	.	.	.	.	.	C	9.738	1.164123	0.21538	.	.	ENSG00000084774	ENST00000458503	D	0.84873	-1.91	5.03	1.91	0.25777	.	0.000000	0.85682	D	0.000000	D	0.85639	0.5743	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.83194	-0.0082	7	0.87932	D	0	1.0952	5.335	0.15953	0.2833:0.5465:0.0:0.1703	.	.	.	.	L	70	ENSP00000414742:P70L	ENSP00000414742:P70L	P	+	2	0	CAD	27312856	0.868000	0.29978	1.000000	0.80357	0.910000	0.53928	-0.069000	0.11542	0.566000	0.29273	0.561000	0.74099	CCC		0.557	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1		
STRN	6801	broad.mit.edu	37	2	37078198	37078198	+	Silent	SNP	C	C	T	rs373121939		TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr2:37078198C>T	ENST00000263918.4	-	16	2039	c.2031G>A	c.(2029-2031)ccG>ccA	p.P677P	STRN_ENST00000379213.2_Silent_p.P628P	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	677				P -> S (in Ref. 1; CAA11560). {ECO:0000305}.	dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TGATGCTGATCGGAAGAGTAG	0.303																																						uc002rpn.2																			0				skin(1)	1						c.(2029-2031)CCG>CCA		striatin, calmodulin binding protein		C		0,4406		0,0,2203	98.0	96.0	97.0		2031	-12.1	0.0	2		97	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	STRN	NM_003162.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		677/781	37078198	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6801				dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding	g.chr2:37078198C>T	AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"""WD repeat domain containing"""	11424	protein-coding gene	gene with protein product		614765	"""striatin, calmodulin-binding protein"""			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.2031G>A	2.37:g.37078198C>T						STRN_uc010ezx.2_Silent_p.P640P	p.P677P	NM_003162	NP_003153	O43815	STRN_HUMAN			16	2040	-		Ovarian(717;0.0129)|all_hematologic(82;0.21)	677	P -> S (in Ref. 1; CAA11560).		WD 4.		Q3KP65|Q53TQ8|Q9NP38	Silent	SNP	ENST00000263918.4	37	c.2031G>A	CCDS1784.1																																																																																				0.303	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1		
LOC401010	401010	broad.mit.edu	37	2	132200935	132200935	+	IGR	SNP	C	C	T	rs71345556		TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr2:132200935C>T								AC073869.19 (34313 upstream) : RP11-109E12.1 (18458 downstream)																							CAGGTTGACACTGGACAGCTT	0.597																																						uc002tst.2																			0					0						c.(1066-1068)AGT>AAT		SubName: Full=cDNA FLJ12694 fis, clone NT2RP1000358, highly similar to Homo sapiens mRNA; cDNA DKFZp564C186 (from clone DKFZp564C186);																																				SO:0001628	intergenic_variant	401010							g.chr2:132200935C>T																													2.37:g.132200935C>T							p.S356N	NR_002826						1	1533	-									Missense_Mutation	SNP		37	c.1067G>A																																																																																				0	0.597								
XIRP2	129446	broad.mit.edu	37	2	167760222	167760222	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr2:167760222A>G	ENST00000409728.1	+	2	319	c.230A>G	c.(229-231)gAg>gGg	p.E77G	XIRP2_ENST00000420519.1_Missense_Mutation_p.E77G|XIRP2_ENST00000295237.9_Missense_Mutation_p.E77G|XIRP2_ENST00000409756.2_Missense_Mutation_p.E77G|XIRP2_ENST00000409043.1_Missense_Mutation_p.E77G|XIRP2_ENST00000409195.1_Missense_Mutation_p.E77G	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGCCGGAAGAGAAGGATTCT	0.522																																						uc002udx.2																			0				skin(7)|ovary(6)|pancreas(1)	14						c.(229-231)GAG>GGG		xin actin-binding repeat containing 2 isoform 1							90.0	89.0	89.0					2																	167760222		1966	4136	6102	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:167760222A>G	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.230A>G	2.37:g.167760222A>G	ENSP00000386619:p.Glu77Gly					XIRP2_uc010fpn.2_Missense_Mutation_p.E77G|XIRP2_uc010fpo.2_Missense_Mutation_p.E77G|XIRP2_uc010fpp.2_Missense_Mutation_p.E77G	p.E77G	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			1	248	+			Error:Variant_position_missing_in_A4UGR9_after_alignment					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	c.230A>G	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	A	3.267	-0.149954	0.06585	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237	T;T;T;T;T;T	0.79352	-1.25;-1.26;4.09;-1.25;-1.26;4.09	4.79	-2.29	0.06805	.	.	.	.	.	T	0.56906	0.2017	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35748	-0.9776	8	0.27082	T	0.32	0.007	3.5969	0.08009	0.4741:0.0:0.262:0.2639	.	77;77	A4UGR9-4;A4UGR9-6	.;.	G	77	ENSP00000386454:E77G;ENSP00000386619:E77G;ENSP00000386840:E77G;ENSP00000386724:E77G;ENSP00000415541:E77G;ENSP00000295237:E77G	ENSP00000295237:E77G	E	+	2	0	XIRP2	167468468	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.538000	0.23160	-0.287000	0.09064	-1.139000	0.01908	GAG		0.522	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381	
TRAK2	66008	broad.mit.edu	37	2	202252532	202252532	+	Silent	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr2:202252532G>A	ENST00000332624.3	-	13	2018	c.1590C>T	c.(1588-1590)agC>agT	p.S530S		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	530					protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GAGAGGCAAGGCTCTCTGTCG	0.512																																						uc002uyb.3																			0					0						c.(1588-1590)AGC>AGT		trafficking protein, kinesin binding 2							107.0	103.0	104.0					2																	202252532		2203	4300	6503	SO:0001819	synonymous_variant	66008					early endosome|plasma membrane	GABA receptor binding	g.chr2:202252532G>A	AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.1590C>T	2.37:g.202252532G>A							p.S530S	NM_015049	NP_055864	O60296	TRAK2_HUMAN			13	2036	-			530	Missing (in Ref. 2).				E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Silent	SNP	ENST00000332624.3	37	c.1590C>T	CCDS2347.1																																																																																				0.512	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049	
CXCR2	3579	broad.mit.edu	37	2	218999840	218999840	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr2:218999840G>A	ENST00000318507.2	+	3	743	c.316G>A	c.(316-318)Gcc>Acc	p.A106T		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	106					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CATCTGGGCCGCCTCCAAGGT	0.552																																						uc002vgz.1																			0				lung(1)|breast(1)	2						c.(316-318)GCC>ACC		interleukin 8 receptor beta							97.0	96.0	96.0					2																	218999840		2203	4298	6501	SO:0001583	missense	3579				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	g.chr2:218999840G>A	U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6027	protein-coding gene	gene with protein product		146928	"""interleukin 8 receptor, beta"""	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.316G>A	2.37:g.218999840G>A	ENSP00000319635:p.Ala106Thr					CXCR2_uc002vha.1_Missense_Mutation_p.A106T|CXCR2_uc002vhb.1_Missense_Mutation_p.A106T	p.A106T	NM_001557	NP_001548	P25025	CXCR2_HUMAN			4	541	+			106			Extracellular (Potential).		Q8IUZ1|Q9P2T6|Q9P2T7	Missense_Mutation	SNP	ENST00000318507.2	37	c.316G>A	CCDS2408.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.778413	0.31502	.	.	ENSG00000180871	ENST00000453237;ENST00000415392;ENST00000318507;ENST00000454148;ENST00000428565	T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64	5.06	0.0211	0.14127	GPCR, rhodopsin-like superfamily (1);	0.793696	0.11773	N	0.530932	T	0.57902	0.2085	L	0.42581	1.335	0.09310	N	0.999999	B	0.32188	0.359	B	0.30716	0.119	T	0.38457	-0.9660	10	0.22706	T	0.39	.	9.6818	0.40074	0.3662:0.0:0.6338:0.0	.	106	P25025	CXCR2_HUMAN	T	106	ENSP00000413686:A106T;ENSP00000392348:A106T;ENSP00000319635:A106T;ENSP00000415148:A106T;ENSP00000392698:A106T	ENSP00000319635:A106T	A	+	1	0	CXCR2	218708085	0.000000	0.05858	0.009000	0.14445	0.865000	0.49528	0.374000	0.20501	-0.210000	0.10140	0.456000	0.33151	GCC		0.552	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	NM_001557	
SLC5A4	6527	broad.mit.edu	37	22	32634986	32634986	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr22:32634986A>G	ENST00000266086.4	-	6	580	c.569T>C	c.(568-570)gTt>gCt	p.V190A	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	190					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GGTGGTGTAAACAGCAGTCAT	0.448																																						uc003ami.2																			0					0						c.(568-570)GTT>GCT		solute carrier family 5 (low affinity glucose							175.0	137.0	150.0					22																	32634986		2203	4300	6503	SO:0001583	missense	6527				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	g.chr22:32634986A>G	U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"""Solute carriers"""	11039	protein-coding gene	gene with protein product			"""solute carrier family 5 (low affinity glucose cotransporter), member 4"""			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.569T>C	22.37:g.32634986A>G	ENSP00000266086:p.Val190Ala						p.V190A	NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN			6	571	-			190			Helical; (Potential).		O15279	Missense_Mutation	SNP	ENST00000266086.4	37	c.569T>C	CCDS13903.1	.	.	.	.	.	.	.	.	.	.	.	13.95	2.391147	0.42410	.	.	ENSG00000100191	ENST00000266086	D	0.88124	-2.34	4.87	4.87	0.63330	Sodium/solute symporter, conserved site (1);	0.485922	0.22453	N	0.059861	T	0.80660	0.4665	N	0.21617	0.685	0.28727	N	0.9027	B	0.22414	0.069	B	0.29267	0.1	T	0.75941	-0.3140	10	0.56958	D	0.05	.	12.7449	0.57276	1.0:0.0:0.0:0.0	.	190	Q9NY91	SC5A4_HUMAN	A	190	ENSP00000266086:V190A	ENSP00000266086:V190A	V	-	2	0	SLC5A4	30964986	1.000000	0.71417	0.260000	0.24451	0.499000	0.33736	9.017000	0.93651	2.174000	0.68829	0.533000	0.62120	GTT		0.448	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315724.1	NM_014227	
DNAJB7	150353	broad.mit.edu	37	22	41257669	41257669	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr22:41257669G>T	ENST00000307221.4	-	1	461	c.330C>A	c.(328-330)caC>caA	p.H110Q	XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000544094.1_5'Flank|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000482652.1_3'UTR|XPNPEP3_ENST00000414396.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	110							chaperone binding (GO:0051087)	p.H110Q(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						CTTCAAAGAAGTGAAAAGAAA	0.388																																						uc003azj.2																			1	Substitution - Missense(1)	p.H110Q(1)	ovary(1)	ovary(1)	1						c.(328-330)CAC>CAA		DnaJ (Hsp40) homolog, subfamily B, member 7							81.0	86.0	84.0					22																	41257669		2203	4300	6503	SO:0001583	missense	150353				protein folding		heat shock protein binding|unfolded protein binding	g.chr22:41257669G>T	AF085232	CCDS14008.1	22q13.2	2011-09-02			ENSG00000172404	ENSG00000172404		"""Heat shock proteins / DNAJ (HSP40)"""	24986	protein-coding gene	gene with protein product		611336				12477932	Standard	NM_145174		Approved	HSC3	uc003azj.3	Q7Z6W7	OTTHUMG00000151202	ENST00000307221.4:c.330C>A	22.37:g.41257669G>T	ENSP00000307197:p.His110Gln					XPNPEP3_uc011aox.1_Intron|XPNPEP3_uc003azh.2_Intron|XPNPEP3_uc003azi.2_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azg.1_RNA|XPNPEP3_uc003azf.1_RNA|XPNPEP3_uc010gyh.1_5'Flank	p.H110Q	NM_145174	NP_660157	Q7Z6W7	DNJB7_HUMAN			1	462	-			110					Q2M220|Q5H904|Q8WYJ7	Missense_Mutation	SNP	ENST00000307221.4	37	c.330C>A	CCDS14008.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.570995	0.28003	.	.	ENSG00000172404	ENST00000307221	T	0.73575	-0.76	4.7	1.46	0.22682	.	2.012990	0.02534	N	0.093880	T	0.72914	0.3520	M	0.70595	2.14	0.80722	D	1	B	0.15141	0.012	B	0.19148	0.024	T	0.53464	-0.8435	10	0.29301	T	0.29	.	6.229	0.20724	0.6527:0.0:0.3473:0.0	.	110	Q7Z6W7	DNJB7_HUMAN	Q	110	ENSP00000307197:H110Q	ENSP00000307197:H110Q	H	-	3	2	DNAJB7	39587615	0.002000	0.14202	0.944000	0.38274	0.500000	0.33767	-0.199000	0.09491	0.348000	0.23949	0.591000	0.81541	CAC		0.388	DNAJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321765.1	NM_145174	
SCN10A	6336	broad.mit.edu	37	3	38770174	38770174	+	Silent	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr3:38770174G>A	ENST00000449082.2	-	15	2498	c.2499C>T	c.(2497-2499)caC>caT	p.H833H		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	833					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GGAAGAAGTCGTGCATGTGCC	0.512																																						uc003ciq.2																			0				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(2497-2499)CAC>CAT		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						118.0	112.0	114.0					3																	38770174		2203	4300	6503	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38770174G>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2499C>T	3.37:g.38770174G>A							p.H833H	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	15	2499	-			833			II.		A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.2499C>T	CCDS33736.1																																																																																				0.512	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	
CCR1	1230	broad.mit.edu	37	3	46245393	46245393	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr3:46245393C>T	ENST00000296140.3	-	2	537	c.412G>A	c.(412-414)Gcc>Acc	p.A138T	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	138					calcium ion transport (GO:0006816)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|exocytosis (GO:0006887)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of osteoclast differentiation (GO:0045672)|response to wounding (GO:0009611)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine (C-C motif) ligand 7 binding (GO:0035717)|chemokine receptor activity (GO:0004950)|phosphatidylinositol phospholipase C activity (GO:0004435)			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GCAAACACGGCGTGGACGATG	0.512																																						uc003cph.1																			0				skin(2)|pancreas(1)	3						c.(412-414)GCC>ACC		chemokine (C-C motif) receptor 1							80.0	75.0	77.0					3																	46245393		2203	4300	6503	SO:0001583	missense	1230				cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity	g.chr3:46245393C>T		CCDS2737.1	3p21	2012-08-08			ENSG00000163823	ENSG00000163823		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1602	protein-coding gene	gene with protein product		601159		SCYAR1, CMKBR1		7679328	Standard	NM_001295		Approved	CKR-1, MIP1aR, CD191	uc003cph.1	P32246	OTTHUMG00000133451	ENST00000296140.3:c.412G>A	3.37:g.46245393C>T	ENSP00000296140:p.Ala138Thr					CCR3_uc003cpg.1_Intron	p.A138T	NM_001295	NP_001286	P32246	CCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	2	483	-			138			Cytoplasmic (Potential).		Q86VA9	Missense_Mutation	SNP	ENST00000296140.3	37	c.412G>A	CCDS2737.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.280409	0.59758	.	.	ENSG00000163823	ENST00000296140	T	0.38240	1.15	4.86	4.86	0.63082	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	T	0.67373	0.2886	M	0.88450	2.955	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	T	0.75465	-0.3308	10	0.87932	D	0	.	18.3724	0.90411	0.0:1.0:0.0:0.0	.	138	P32246	CCR1_HUMAN	T	138	ENSP00000296140:A138T	ENSP00000296140:A138T	A	-	1	0	CCR1	46220397	1.000000	0.71417	0.176000	0.23000	0.084000	0.17831	5.944000	0.70219	2.412000	0.81896	0.655000	0.94253	GCC		0.512	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257325.2	NM_001295	
FAM86DP	692099	broad.mit.edu	37	3	75475709	75475709	+	RNA	SNP	T	T	C			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr3:75475709T>C	ENST00000459803.1	-	0	820					NR_024241.1				family with sequence similarity 86, member D, pseudogene									p.I261V(1)									CTCCGCAGGATCCCGACCAGC	0.562																																						uc003dpp.3																			1	Substitution - Missense(1)		kidney(1)		0						c.(529-531)ATC>GTC		RecName: Full=Protein FAM86B1;																																						692099							g.chr3:75475709T>C	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75475709T>C						FAM86D_uc003dpo.3_RNA|FAM86D_uc003dps.3_RNA|FAM86D_uc003dpq.3_Missense_Mutation_p.I85V|FAM86D_uc003dpr.3_RNA	p.I177V	NR_024241						7	888	-									Missense_Mutation	SNP	ENST00000459803.1	37	c.529A>G																																																																																					0.562	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241	
PRR23B	389151	broad.mit.edu	37	3	138739096	138739096	+	Silent	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr3:138739096G>A	ENST00000329447.5	-	1	672	c.408C>T	c.(406-408)gtC>gtT	p.V136V	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	136										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCAGCTCGACGACGACGTCCT	0.652																																						uc003esy.1																			0				breast(1)	1						c.(406-408)GTC>GTT		proline rich 23B							56.0	60.0	58.0					3																	138739096		2203	4300	6503	SO:0001819	synonymous_variant	389151							g.chr3:138739096G>A	BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.408C>T	3.37:g.138739096G>A							p.V136V	NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN			1	673	-			136					B2RNV9	Silent	SNP	ENST00000329447.5	37	c.408C>T	CCDS33868.1																																																																																				0.652	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	NM_001013650	
MFSD7	84179	broad.mit.edu	37	4	680063	680063	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr4:680063G>A	ENST00000404286.2	-	3	338	c.323C>T	c.(322-324)gCc>gTc	p.A108V	MFSD7_ENST00000515118.1_Intron|MFSD7_ENST00000503156.1_Missense_Mutation_p.A44V|MFSD7_ENST00000513740.1_Intron|MFSD7_ENST00000322224.4_Missense_Mutation_p.A108V|MFSD7_ENST00000347950.5_Intron	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	108					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						CACACTCCCGGCAAAGTTCAG	0.657																																						uc003gay.2																			0					0						c.(322-324)GCC>GTC		major facilitator superfamily domain containing							57.0	57.0	57.0					4																	680063		2203	4300	6503	SO:0001583	missense	84179				transmembrane transport	integral to membrane		g.chr4:680063G>A	AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026		"""Solute carriers"""	26177	protein-coding gene	gene with protein product						12975309	Standard	XM_005272295		Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000404286.2:c.323C>T	4.37:g.680063G>A	ENSP00000384616:p.Ala108Val					MFSD7_uc003gaw.2_5'Flank|MFSD7_uc003gax.2_Missense_Mutation_p.A108V|MFSD7_uc003gaz.2_Intron|MFSD7_uc003gba.2_Intron|MFSD7_uc003gbb.1_Missense_Mutation_p.A44V	p.A108V	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN			3	380	-			108			Helical; (Potential).		A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	Missense_Mutation	SNP	ENST00000404286.2	37	c.323C>T		.	.	.	.	.	.	.	.	.	.	G	3.929	-0.016587	0.07681	.	.	ENSG00000169026	ENST00000322224;ENST00000404286;ENST00000503156;ENST00000507165	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	4.63	0.701	0.18104	Major facilitator superfamily domain, general substrate transporter (1);	1.417430	0.04373	N	0.359436	T	0.35158	0.0922	L	0.27053	0.805	0.09310	N	1	B;B;B	0.15141	0.003;0.009;0.012	B;B;B	0.17098	0.01;0.017;0.007	T	0.13388	-1.0511	10	0.09590	T	0.72	-0.0372	4.2352	0.10621	0.3049:0.175:0.5201:0.0	.	44;108;108	D6RIZ6;Q6UXD7;Q6UXD7-2	.;MFSD7_HUMAN;.	V	108;108;44;44	ENSP00000320234:A108V;ENSP00000384616:A108V;ENSP00000425753:A44V;ENSP00000424556:A44V	ENSP00000320234:A108V	A	-	2	0	MFSD7	670063	0.000000	0.05858	0.000000	0.03702	0.113000	0.19764	0.038000	0.13862	0.179000	0.19938	0.561000	0.74099	GCC		0.657	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358585.1	NM_032219	
LPHN3	23284	broad.mit.edu	37	4	62598628	62598628	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr4:62598628A>G	ENST00000514591.1	+	7	880	c.551A>G	c.(550-552)gAg>gGg	p.E184G	LPHN3_ENST00000545650.1_Missense_Mutation_p.E184G|LPHN3_ENST00000511324.1_Missense_Mutation_p.E252G|LPHN3_ENST00000507164.1_Missense_Mutation_p.E252G|LPHN3_ENST00000506746.1_Missense_Mutation_p.E252G|LPHN3_ENST00000508693.1_Missense_Mutation_p.E252G|LPHN3_ENST00000507625.1_Missense_Mutation_p.E252G|LPHN3_ENST00000506700.1_Missense_Mutation_p.E184G|LPHN3_ENST00000512091.2_Missense_Mutation_p.E184G|LPHN3_ENST00000514157.1_Missense_Mutation_p.E184G|LPHN3_ENST00000508946.1_Missense_Mutation_p.E184G|LPHN3_ENST00000504896.1_Missense_Mutation_p.E184G|LPHN3_ENST00000506720.1_Missense_Mutation_p.E252G|LPHN3_ENST00000509896.1_Missense_Mutation_p.E252G|LPHN3_ENST00000514996.1_Missense_Mutation_p.E184G			Q9HAR2	LPHN3_HUMAN	latrophilin 3	184	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ACCCTGACTGAGTATTCATCC	0.493																																						uc010ihh.2																			0				lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(550-552)GAG>GGG		latrophilin 3 precursor							74.0	70.0	71.0					4																	62598628		1913	4122	6035	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62598628A>G	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.551A>G	4.37:g.62598628A>G	ENSP00000422533:p.Glu184Gly					LPHN3_uc003hcq.3_Missense_Mutation_p.E184G|LPHN3_uc010ihg.1_Missense_Mutation_p.E252G|LPHN3_uc003hcs.1_Missense_Mutation_p.E13G	p.E184G	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			5	724	+			184			Extracellular (Potential).|Olfactomedin-like.		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.551A>G	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	A	18.84	3.709654	0.68730	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.95538	0.8550	M	0.86178	2.8	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;0.989	D;D;D	0.83275	0.996;0.996;0.979	D	0.96163	0.9117	10	0.87932	D	0	.	14.5987	0.68424	1.0:0.0:0.0:0.0	.	184;252;184	E9PE04;E7EN28;Q9HAR2-2	.;.;.	G	184;184;252;252;184;184;184;184;184;252;252;252;184;184;184;252;252;184	ENSP00000423388:E184G;ENSP00000422533:E184G;ENSP00000423787:E252G;ENSP00000425033:E252G;ENSP00000424120:E184G;ENSP00000439831:E184G;ENSP00000421476:E252G;ENSP00000424030:E252G;ENSP00000421372:E252G;ENSP00000425201:E184G;ENSP00000423434:E184G;ENSP00000421627:E184G;ENSP00000420931:E252G;ENSP00000425884:E252G;ENSP00000424258:E184G	ENSP00000280009:E184G	E	+	2	0	LPHN3	62281223	1.000000	0.71417	0.985000	0.45067	0.936000	0.57629	9.339000	0.96797	2.058000	0.61347	0.455000	0.32223	GAG		0.493	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1		
HSP90AB3P	3327	broad.mit.edu	37	4	88814526	88814526	+	IGR	DEL	T	T	-			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr4:88814526delT								MEPE (46557 upstream) : SPP1 (82292 downstream)																							CGAGGTGGTATATATGACTGA	0.517																																						uc010iko.1																			0											c.(1153-1155)TATfs		SubName: Full=Heat shock protein 90kDa alpha (Cytosolic), class B member 1, isoform CRA_a; SubName: Full=cDNA, FLJ92550, Homo sapiens heat shock 90kDa protein 1, beta (HSPCB), mRNA;																																				SO:0001628	intergenic_variant	0							g.chr4:88814526delT																													4.37:g.88814526delT							p.Y385fs							4	1153	+									Frame_Shift_Del	DEL		37	c.1153delT																																																																																				0	0.517								
SLC9B2	133308	broad.mit.edu	37	4	103947532	103947532	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr4:103947532C>G	ENST00000394785.3	-	12	2240	c.1609G>C	c.(1609-1611)Gtt>Ctt	p.V537L	SLC9B2_ENST00000503230.1_Missense_Mutation_p.V480L|SLC9B2_ENST00000362026.3_Missense_Mutation_p.V537L|SLC9B2_ENST00000503103.1_3'UTR|SLC9B2_ENST00000339611.4_Intron	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	537					ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	solute:proton antiporter activity (GO:0015299)										CACCTCTAAACTTGCACAGAA	0.353																																						uc003hwx.3																			0					0						c.(1609-1611)GTT>CTT		Na+/H+ exchanger domain containing 2							94.0	97.0	96.0					4																	103947532		2203	4300	6503	SO:0001583	missense	133308				sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity	g.chr4:103947532C>G	AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038		"""Solute carriers"""	25143	protein-coding gene	gene with protein product		611789	"""Na+/H+ exchanger domain containing 2"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 2"""	NHEDC2		18600791	Standard	XM_005262758		Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000394785.3:c.1609G>C	4.37:g.103947532C>G	ENSP00000378265:p.Val537Leu					NHEDC2_uc010iln.1_Intron|NHEDC2_uc003hwy.2_Missense_Mutation_p.V537L|NHEDC2_uc011cew.1_Missense_Mutation_p.V480L|NHEDC2_uc011cex.1_3'UTR	p.V537L	NM_178833	NP_849155	Q86UD5	NHDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.3e-08)	12	2481	-			537					B5ME52|Q6ZMD8|Q96D95	Missense_Mutation	SNP	ENST00000394785.3	37	c.1609G>C	CCDS3662.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.442223	0.25987	.	.	ENSG00000164038	ENST00000362026;ENST00000394785;ENST00000503230	T;T;T	0.22743	1.94;1.94;1.97	5.28	-1.89	0.07689	.	1.675060	0.03863	N	0.274337	T	0.11922	0.0290	N	0.22421	0.69	0.20074	N	0.999935	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.22626	-1.0211	10	0.33141	T	0.24	.	0.8487	0.01167	0.2424:0.3385:0.1199:0.2992	.	480;537	E9PE63;Q86UD5	.;SL9B2_HUMAN	L	537;537;480	ENSP00000354574:V537L;ENSP00000378265:V537L;ENSP00000422477:V480L	ENSP00000354574:V537L	V	-	1	0	SLC9B2	104166981	0.000000	0.05858	0.019000	0.16419	0.944000	0.59088	-0.604000	0.05667	-0.326000	0.08564	0.585000	0.79938	GTT		0.353	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253805.1	NM_178833	
CARD6	84674	broad.mit.edu	37	5	40852866	40852866	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr5:40852866G>A	ENST00000254691.5	+	3	1631	c.1432G>A	c.(1432-1434)Gcc>Acc	p.A478T	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	478					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TCTCAGCCCTGCCCAGTTGAA	0.433																																						uc003jmg.2																			0				ovary(2)|skin(2)|lung(1)	5						c.(1432-1434)GCC>ACC		caspase recruitment domain family, member 6							74.0	74.0	74.0					5																	40852866		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40852866G>A	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.1432G>A	5.37:g.40852866G>A	ENSP00000254691:p.Ala478Thr						p.A478T	NM_032587	NP_115976	Q9BX69	CARD6_HUMAN			3	1507	+			478					Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.1432G>A	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	G	6.676	0.493289	0.12702	.	.	ENSG00000132357	ENST00000254691	T	0.11930	2.73	5.48	-3.89	0.04193	.	1.182510	0.05994	N	0.646502	T	0.08802	0.0218	L	0.40543	1.245	0.09310	N	1	B	0.17852	0.024	B	0.12156	0.007	T	0.39165	-0.9627	10	0.21540	T	0.41	-0.0861	2.0642	0.03599	0.3647:0.2141:0.3158:0.1055	.	478	Q9BX69	CARD6_HUMAN	T	478	ENSP00000254691:A478T	ENSP00000254691:A478T	A	+	1	0	CARD6	40888623	0.000000	0.05858	0.000000	0.03702	0.186000	0.23388	-0.548000	0.06048	-0.612000	0.05701	-0.142000	0.14014	GCC		0.433	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3		
NBPF22P	285622	broad.mit.edu	37	5	85582755	85582755	+	RNA	SNP	A	A	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr5:85582755A>T	ENST00000590707.1	+	0	747					NR_003719.2				neuroblastoma breakpoint family, member 22, pseudogene																		ACCAAAGCCCACCATGCCCCA	0.408																																						uc003kiq.2																			0					0						c.(499-501)CCA>CCT		SubName: Full=Putative uncharacterized protein NBPF22P;																																						285622							g.chr5:85582755A>T	BC050328		5q14.3	2013-01-17	2011-04-15		ENSG00000205449	ENSG00000205449		"""neuroblastoma breakpoint family"""	28731	pseudogene	pseudogene						16079250	Standard	NR_003719		Approved	MGC48637	uc003kiq.3		OTTHUMG00000162585		5.37:g.85582755A>T							p.P167P	NR_003719						4	763	+									Silent	SNP	ENST00000590707.1	37	c.501A>T																																																																																					0.408	NBPF22P-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000453100.1	XM_208333	
ATOX1	475	broad.mit.edu	37	5	151125916	151125916	+	Silent	SNP	T	T	C			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr5:151125916T>C	ENST00000524142.1	-	4	534	c.177A>G	c.(175-177)ggA>ggG	p.G59G	ATOX1_ENST00000522710.1_Silent_p.G59G|ATOX1_ENST00000313115.6_Silent_p.G59G|ATOX1_ENST00000522314.1_Silent_p.G50G|ATOX1_ENST00000521264.1_Silent_p.G64G|ATOX1_ENST00000520382.1_Silent_p.G50G			O00244	ATOX1_HUMAN	antioxidant 1 copper chaperone	59	HMA. {ECO:0000255|PROSITE- ProRule:PRU00280}.				cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	copper chaperone activity (GO:0016531)|copper ion binding (GO:0005507)|copper-dependent protein binding (GO:0032767)|metallochaperone activity (GO:0016530)						Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			AAACAGTCTTTCCTGTTTTCT	0.542																																						uc003luk.2																			0					0						c.(175-177)GGA>GGG		antioxidant protein 1							113.0	114.0	113.0					5																	151125916		2023	4174	6197	SO:0001819	synonymous_variant	475				cellular copper ion homeostasis|copper ion transport|response to oxidative stress	cytosol	copper chaperone activity|copper-dependent protein binding	g.chr5:151125916T>C	U70660	CCDS47317.1	5q32	2013-05-01	2013-05-01			ENSG00000177556			798	protein-coding gene	gene with protein product		602270	"""ATX1 (antioxidant protein 1, yeast) homolog 1"", ""ATX1 antioxidant protein 1 homolog (yeast)"""			9083055	Standard	NM_004045		Approved	HAH1	uc003luk.3	O00244		ENST00000524142.1:c.177A>G	5.37:g.151125916T>C							p.G59G	NM_004045	NP_004036	O00244	ATOX1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		3	275	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	59			HMA.		A8KAJ8|D3DQI2|Q2M1R6|Q56AP3	Silent	SNP	ENST00000524142.1	37	c.177A>G	CCDS47317.1																																																																																				0.542	ATOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373823.2	NM_004045	
MBOAT1	154141	broad.mit.edu	37	6	20118736	20118736	+	Missense_Mutation	SNP	T	T	C	rs150163538		TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr6:20118736T>C	ENST00000324607.7	-	9	1107	c.943A>G	c.(943-945)Agc>Ggc	p.S315G	MBOAT1_ENST00000541730.1_Missense_Mutation_p.S166G	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	315					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			TCCACTCCGCTGAACCCAAAG	0.393																																						uc003ncx.1																			0					0						c.(943-945)AGC>GGC		membrane bound O-acyltransferase domain		T	GLY/SER	0,4406		0,0,2203	122.0	100.0	107.0		943	6.2	1.0	6	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	no	missense	MBOAT1	NM_001080480.1	56	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	315/496	20118736	1,13005	2203	4300	6503	SO:0001583	missense	154141				phospholipid biosynthetic process	integral to membrane	acyltransferase activity	g.chr6:20118736T>C	AK093994	CCDS34346.1	6p22.3	2013-10-11	2006-06-29	2006-06-29	ENSG00000172197	ENSG00000172197			21579	protein-coding gene	gene with protein product	"""lysophosphatidylethanolamine acyltransferase 1"""	611732	"""O-acyltransferase (membrane bound) domain containing 1"""	OACT1		18287005	Standard	NM_001080480		Approved	MGC44669, dJ434O11.1, LPEAT1	uc003ncx.2	Q6ZNC8	OTTHUMG00000014334	ENST00000324607.7:c.943A>G	6.37:g.20118736T>C	ENSP00000324944:p.Ser315Gly					MBOAT1_uc011dji.1_Missense_Mutation_p.S166G	p.S315G	NM_001080480	NP_001073949	Q6ZNC8	MBOA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)		9	1148	-	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		315			Helical; (Potential).		A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	Missense_Mutation	SNP	ENST00000324607.7	37	c.943A>G	CCDS34346.1	.	.	.	.	.	.	.	.	.	.	T	15.66	2.898948	0.52227	0.0	1.16E-4	ENSG00000172197	ENST00000541730;ENST00000324607	T;T	0.18810	2.19;2.68	6.17	6.17	0.99709	.	0.414397	0.30473	N	0.009552	T	0.17789	0.0427	M	0.64170	1.965	0.80722	D	1	B;B	0.31125	0.03;0.309	B;B	0.35182	0.02;0.197	T	0.01617	-1.1311	10	0.51188	T	0.08	-15.23	16.8222	0.85835	0.0:0.0:0.0:1.0	.	166;315	Q6ZNC8-2;Q6ZNC8	.;MBOA1_HUMAN	G	166;315	ENSP00000441568:S166G;ENSP00000324944:S315G	ENSP00000324944:S315G	S	-	1	0	MBOAT1	20226715	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.507000	0.53371	2.371000	0.80710	0.533000	0.62120	AGC		0.393	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039980.1		
GRM4	2914	broad.mit.edu	37	6	34008523	34008523	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr6:34008523G>A	ENST00000538487.2	-	7	1614	c.1171C>T	c.(1171-1173)Cgt>Tgt	p.R391C	GRM4_ENST00000455714.2_Missense_Mutation_p.R251C|GRM4_ENST00000374181.4_Missense_Mutation_p.R391C|GRM4_ENST00000609222.1_Missense_Mutation_p.R258C|GRM4_ENST00000535756.1_Missense_Mutation_p.R258C|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000544773.2_Missense_Mutation_p.R222C|GRM4_ENST00000374177.3_Missense_Mutation_p.R275C	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	391					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						ATTCGCTCACGGTCTGCAATG	0.597																																						uc003oir.3																			0				lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6						c.(1171-1173)CGT>TGT		glutamate receptor, metabotropic 4 precursor	L-Glutamic Acid(DB00142)						154.0	120.0	131.0					6																	34008523		2203	4300	6503	SO:0001583	missense	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34008523G>A	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.1171C>T	6.37:g.34008523G>A	ENSP00000440556:p.Arg391Cys					GRM4_uc011dsn.1_Missense_Mutation_p.R344C|GRM4_uc010jvh.2_Missense_Mutation_p.R391C|GRM4_uc010jvi.2_Missense_Mutation_p.R83C|GRM4_uc003oio.2_Missense_Mutation_p.R83C|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Missense_Mutation_p.R251C|GRM4_uc003oiq.2_Missense_Mutation_p.R258C|GRM4_uc011dsm.1_Missense_Mutation_p.R222C	p.R391C	NM_000841	NP_000832	Q14833	GRM4_HUMAN			6	1341	-			391			Extracellular (Potential).		B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	c.1171C>T	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663803	0.67700	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.86030	-2.06;-1.63;-2.06;-2.06;-2.06;-2.06;-2.06	4.29	4.29	0.51040	Extracellular ligand-binding receptor (1);	0.144833	0.47852	D	0.000220	D	0.84019	0.5380	L	0.39898	1.24	0.46222	D	0.998939	B;D;D;D;D	0.76494	0.131;0.995;0.998;0.999;0.997	B;P;P;P;P	0.61658	0.105;0.849;0.804;0.828;0.892	D	0.86127	0.1572	10	0.66056	D	0.02	.	12.7744	0.57439	0.0:0.165:0.835:0.0	.	344;222;251;391;258	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	C	391;275;83;258;222;391;251	ENSP00000363296:R391C;ENSP00000363292:R275C;ENSP00000445533:R83C;ENSP00000437925:R258C;ENSP00000437730:R222C;ENSP00000440556:R391C;ENSP00000398456:R251C	ENSP00000363292:R275C	R	-	1	0	GRM4	34116501	1.000000	0.71417	0.996000	0.52242	0.929000	0.56500	3.369000	0.52365	2.205000	0.71048	0.305000	0.20034	CGT		0.597	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2		
VEGFA	7422	broad.mit.edu	37	6	43752359	43752359	+	IGR	SNP	A	A	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr6:43752359A>T	ENST00000523873.1	+	0	784				VEGFA_ENST00000425836.2_3'UTR|VEGFA_ENST00000230480.6_3'UTR|VEGFA_ENST00000518824.1_Missense_Mutation_p.K190N|VEGFA_ENST00000372067.3_3'UTR|VEGFA_ENST00000523950.1_3'UTR|VEGFA_ENST00000520948.1_3'UTR|VEGFA_ENST00000482630.2_Missense_Mutation_p.K370N|VEGFA_ENST00000372077.4_3'UTR|VEGFA_ENST00000372064.4_3'UTR			P15692	VEGFA_HUMAN	vascular endothelial growth factor A						activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|basophil chemotaxis (GO:0002575)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|camera-type eye morphogenesis (GO:0048593)|cardiac muscle fiber development (GO:0048739)|cardiac vascular smooth muscle cell development (GO:0060948)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to hypoxia (GO:0071456)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|dopaminergic neuron differentiation (GO:0071542)|endothelial cell chemotaxis (GO:0035767)|epithelial cell differentiation (GO:0030855)|eye photoreceptor cell development (GO:0042462)|growth (GO:0040007)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|induction of positive chemotaxis (GO:0050930)|kidney development (GO:0001822)|lactation (GO:0007595)|lung development (GO:0030324)|lymph vessel morphogenesis (GO:0036303)|macrophage differentiation (GO:0030225)|mammary gland alveolus development (GO:0060749)|mesoderm development (GO:0007498)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|outflow tract morphogenesis (GO:0003151)|ovarian follicle development (GO:0001541)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cellular component movement (GO:0051272)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine autophosphorylation (GO:1900086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein localization to early endosome (GO:1902966)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor internalization (GO:0002092)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of vascular permeability (GO:0043117)|post-embryonic camera-type eye development (GO:0031077)|primitive erythrocyte differentiation (GO:0060319)|regulation of cell shape (GO:0008360)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)|surfactant homeostasis (GO:0043129)|tube formation (GO:0035148)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|VEGF-activated neuropilin signaling pathway (GO:0038190)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|neuropilin binding (GO:0038191)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor agonist activity (GO:0048018)|vascular endothelial growth factor receptor 1 binding (GO:0043183)|vascular endothelial growth factor receptor 2 binding (GO:0043184)|vascular endothelial growth factor receptor binding (GO:0005172)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Aflibercept(DB08885)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Dalteparin(DB06779)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Vandetanib(DB05294)	TCACCAGGAAAGACTGATACA	0.527																																						uc003owi.2																			0				ovary(1)|breast(1)	2						c.(1108-1110)AAA>AAT		vascular endothelial growth factor A isoform g	Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)						71.0	73.0	72.0					6																	43752359		2203	4300	6503	SO:0001628	intergenic_variant	7422				basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding	g.chr6:43752359A>T	AB021221	CCDS34457.1, CCDS4907.2, CCDS34458.1, CCDS47432.1, CCDS47433.1, CCDS47434.1, CCDS47435.1, CCDS55007.1, CCDS55008.1, CCDS55009.1, CCDS55010.1, CCDS55011.1, CCDS55012.1, CCDS55013.1, CCDS55014.1, CCDS55015.1, CCDS69125.1	6p12	2008-02-05	2006-10-31	2006-10-31	ENSG00000112715	ENSG00000112715			12680	protein-coding gene	gene with protein product		192240	"""vascular endothelial growth factor"""	VEGF		8786112	Standard	NM_001025366		Approved	VEGF-A, VPF	uc003owh.3	P15692	OTTHUMG00000014745		6.37:g.43752359A>T						VEGFA_uc003owd.2_3'UTR|VEGFA_uc003owf.2_3'UTR|VEGFA_uc003owe.2_3'UTR|VEGFA_uc003owg.2_3'UTR|VEGFA_uc003owh.2_3'UTR|VEGFA_uc003owj.2_3'UTR|VEGFA_uc010jyx.2_3'UTR|VEGFA_uc003owk.2_RNA	p.K370N	NM_001033756	NP_001028928	P15692	VEGFA_HUMAN	all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		7	1601	+	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		Error:Variant_position_missing_in_P15692_after_alignment					B5BU86|H0Y2S8|H0Y407|H0Y414|H0Y462|H0Y8N2|H3BLW7|O60720|O75875|Q074Z4|Q16889|Q5UB46|Q6P0P5|Q96KJ0|Q96L82|Q96NW5|Q9H1W8|Q9H1W9|Q9UH58|Q9UL23	Missense_Mutation	SNP	ENST00000523873.1	37	c.1110A>T	CCDS55010.1	.	.	.	.	.	.	.	.	.	.	A	10.77	1.442906	0.25987	.	.	ENSG00000112715	ENST00000482630;ENST00000518824	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	T	0.18676	0.0448	N	0.08118	0	0.80722	D	1	P	0.35272	0.493	B	0.31101	0.124	T	0.14200	-1.0481	8	0.41790	T	0.15	.	14.1856	0.65603	1.0:0.0:0.0:0.0	.	190	P15692-8	.	N	370;190	.	ENSP00000421561:K370N	K	+	3	2	VEGFA	43860337	1.000000	0.71417	0.988000	0.46212	0.371000	0.29859	2.910000	0.48766	2.284000	0.76573	0.528000	0.53228	AAA		0.527	VEGFA-021	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374460.1	NM_001025366	
ZNF92	168374	broad.mit.edu	37	7	64864755	64864755	+	Silent	SNP	C	C	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr7:64864755C>A	ENST00000328747.7	+	4	1927	c.1728C>A	c.(1726-1728)tcC>tcA	p.S576S	ZNF92_ENST00000431504.1_Silent_p.S500S|ZNF92_ENST00000357512.2_Silent_p.S544S|ZNF92_ENST00000450302.2_Silent_p.S507S	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	576					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				TTAACAAATCCTCAAATTATA	0.348																																						uc003ttz.2																			0					0						c.(1726-1728)TCC>TCA		zinc finger protein 92 isoform 2							43.0	48.0	46.0					7																	64864755		2199	4295	6494	SO:0001819	synonymous_variant	168374					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:64864755C>A	M61872	CCDS34646.1, CCDS47596.1, CCDS75608.1, CCDS75609.1	7q11.21	2013-01-08	2006-05-12		ENSG00000146757	ENSG00000146757		"""Zinc fingers, C2H2-type"", ""-"""	13168	protein-coding gene	gene with protein product		603974	"""zinc finger protein 92 (HTF12)"""			8467795	Standard	NM_001287533		Approved	HPF12, TF12	uc003ttz.3	Q03936	OTTHUMG00000156557	ENST00000328747.7:c.1728C>A	7.37:g.64864755C>A						ZNF92_uc003tua.2_Silent_p.S507S|ZNF92_uc010kzu.2_Silent_p.S544S|ZNF92_uc003tub.2_Silent_p.S500S	p.S576S	NM_152626	NP_689839	Q03936	ZNF92_HUMAN			4	1871	+		Lung NSC(55;0.159)	576			C2H2-type 16; degenerate.		A6NNF9|Q8N492|Q8NB35	Silent	SNP	ENST00000328747.7	37	c.1728C>A	CCDS34646.1																																																																																				0.348	ZNF92-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344589.2	NM_152626	
MTERF1	7978	broad.mit.edu	37	7	91503564	91503564	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr7:91503564A>G	ENST00000351870.3	-	3	637	c.544T>C	c.(544-546)Ttc>Ctc	p.F182L	MTERF_ENST00000419292.1_Missense_Mutation_p.F162L|MTERF_ENST00000481516.1_5'Flank|MTERF_ENST00000406735.2_Missense_Mutation_p.F162L	NM_006980.3	NP_008911.1	Q99551	MTEF1_HUMAN		182					DNA geometric change (GO:0032392)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of mitochondrial transcription (GO:0006393)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			GAGTAGAGGAACTTTATATTA	0.378																																						uc003ulb.1																			0					0						c.(544-546)TTC>CTC		mitochondrial transcription termination factor							75.0	76.0	75.0					7																	91503564		2203	4300	6503	SO:0001583	missense	7978				DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding	g.chr7:91503564A>G																												ENST00000351870.3:c.544T>C	7.37:g.91503564A>G	ENSP00000248643:p.Phe182Leu					MTERF_uc010let.1_Intron|MTERF_uc003ulc.1_Missense_Mutation_p.F182L|MTERF_uc011khm.1_Missense_Mutation_p.F162L|MTERF_uc010leu.1_Missense_Mutation_p.F162L	p.F182L	NM_006980	NP_008911	Q99551	MTERF_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)		2	588	-	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		182					A4D1E3|Q32NF8|Q53H51|Q9BVR7	Missense_Mutation	SNP	ENST00000351870.3	37	c.544T>C	CCDS5621.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.185562	0.78677	.	.	ENSG00000127989	ENST00000419292;ENST00000351870;ENST00000406735	T;T;T	0.11169	2.8;2.8;2.8	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.16811	0.0404	M	0.70275	2.135	0.58432	D	0.999999	D	0.53745	0.962	P	0.46850	0.529	T	0.00915	-1.1516	10	0.49607	T	0.09	-11.4754	8.9403	0.35725	0.9089:0.0:0.0911:0.0	.	182	Q99551	MTERF_HUMAN	L	162;182;162	ENSP00000414116:F162L;ENSP00000248643:F182L;ENSP00000384986:F162L	ENSP00000248643:F182L	F	-	1	0	MTERF	91341500	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.163000	0.64948	2.025000	0.59659	0.482000	0.46254	TTC		0.378	MTERF-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000342896.1		
CCDC132	55610	broad.mit.edu	37	7	92883220	92883220	+	Missense_Mutation	SNP	C	C	G	rs558137904	byFrequency	TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr7:92883220C>G	ENST00000305866.5	+	4	401	c.273C>G	c.(271-273)gaC>gaG	p.D91E	CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000251739.5_Missense_Mutation_p.D91E|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000544910.1_Missense_Mutation_p.D61E	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	91						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CGTATAGAGACAAATTGAAAC	0.323																																						uc003umo.2																			0					0						c.(271-273)GAC>GAG		coiled-coil domain containing 132 isoform a							43.0	43.0	43.0					7																	92883220		2203	4300	6503	SO:0001583	missense	55610							g.chr7:92883220C>G	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.273C>G	7.37:g.92883220C>G	ENSP00000307666:p.Asp91Glu					CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.D61E|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Intron|CCDC132_uc003umn.2_Missense_Mutation_p.D91E	p.D91E	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		4	401	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		91			Potential.		B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	c.273C>G	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	C	8.872	0.949544	0.18356	.	.	ENSG00000004766	ENST00000251739;ENST00000305866;ENST00000544910;ENST00000458530	.	.	.	4.65	4.65	0.58169	Vacuolar protein sorting-associated protein 54 (1);	0.000000	0.85682	D	0.000000	T	0.44787	0.1310	N	0.17082	0.46	0.80722	D	1	D;P;B	0.53151	0.958;0.942;0.048	P;P;B	0.57776	0.827;0.729;0.03	T	0.36089	-0.9762	9	0.02654	T	1	-12.3977	11.5661	0.50807	0.0:0.918:0.0:0.082	.	61;91;91	F5H5U7;Q96JG6;Q96JG6-2	.;CC132_HUMAN;.	E	91;91;61;90	.	ENSP00000251739:D91E	D	+	3	2	CCDC132	92721156	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	0.805000	0.27112	2.591000	0.87537	0.650000	0.86243	GAC		0.323	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667	
WNT2	7472	broad.mit.edu	37	7	116960744	116960744	+	Missense_Mutation	SNP	G	G	A	rs376068978		TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr7:116960744G>A	ENST00000265441.3	-	2	486	c.187C>T	c.(187-189)Cgt>Tgt	p.R63C	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	63					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CTAATGGCACGCATCACATCT	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		19504	0.001		0.0	False		,,,				2504	0.0					uc003viz.2																			0				breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	7						c.(187-189)CGT>TGT		wingless-type MMTV integration site family		G	CYS/ARG	0,4406		0,0,2203	66.0	53.0	57.0		187	5.4	1.0	7		57	1,8599	1.2+/-3.3	0,1,4299	no	missense	WNT2	NM_003391.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	63/361	116960744	1,13005	2203	4300	6503	SO:0001583	missense	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116960744G>A	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12780	protein-coding gene	gene with protein product	"""secreted growth factor"""	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.187C>T	7.37:g.116960744G>A	ENSP00000265441:p.Arg63Cys					WNT2_uc003vja.2_5'UTR	p.R63C	NM_003391	NP_003382	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	2	487	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		63					A4D0V1|Q75N05|Q9UDP9	Missense_Mutation	SNP	ENST00000265441.3	37	c.187C>T	CCDS5771.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552974	0.86127	0.0	1.16E-4	ENSG00000105989	ENST00000265441;ENST00000491214	T;T	0.76316	-1.01;-1.01	5.42	5.42	0.78866	.	0.112301	0.64402	D	0.000005	D	0.84174	0.5414	M	0.62723	1.935	0.80722	D	1	D	0.58620	0.983	P	0.56788	0.806	T	0.82855	-0.0251	10	0.38643	T	0.18	.	18.5879	0.91197	0.0:0.0:1.0:0.0	.	63	P09544	WNT2_HUMAN	C	63	ENSP00000265441:R63C;ENSP00000419466:R63C	ENSP00000265441:R63C	R	-	1	0	WNT2	116747980	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	9.386000	0.97228	2.691000	0.91804	0.655000	0.94253	CGT		0.607	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391	
UBN2	254048	broad.mit.edu	37	7	138978177	138978177	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr7:138978177C>T	ENST00000473989.3	+	16	3869	c.3869C>T	c.(3868-3870)aCc>aTc	p.T1290I	UBN2_ENST00000288561.8_Missense_Mutation_p.T1207I	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1290						extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TCGGGATCTACCTCAGCCGCT	0.502																																						uc011kqr.1																			0				ovary(1)|skin(1)	2						c.(3868-3870)ACC>ATC		ubinuclein 2							79.0	76.0	77.0					7																	138978177		1903	4115	6018	SO:0001583	missense	254048							g.chr7:138978177C>T	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.3869C>T	7.37:g.138978177C>T	ENSP00000418648:p.Thr1290Ile						p.T1290I	NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN			16	3869	+			1290					A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	c.3869C>T	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701824	0.88924	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.36699	1.24;1.34	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.55816	0.1944	L	0.43152	1.355	0.51233	D	0.999914	D	0.76494	0.999	D	0.78314	0.991	T	0.53732	-0.8397	10	0.72032	D	0.01	-11.3309	20.3242	0.98691	0.0:1.0:0.0:0.0	.	1290	Q6ZU65	UBN2_HUMAN	I	1290;1207	ENSP00000418648:T1290I;ENSP00000288561:T1207I	ENSP00000288561:T1207I	T	+	2	0	UBN2	138628717	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.317000	0.65822	2.882000	0.98803	0.655000	0.94253	ACC		0.502	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569	
KEL	3792	broad.mit.edu	37	7	142651272	142651272	+	Splice_Site	SNP	T	T	C			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr7:142651272T>C	ENST00000355265.2	-	8	1397	c.923A>G	c.(922-924)aAg>aGg	p.K308R	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	308					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TCCAGGCACCTTGAGCTGGTC	0.547																																						uc003wcb.2																			0				ovary(3)|central_nervous_system(1)	4						c.(922-924)AAG>AGG		Kell blood group, metallo-endopeptidase							32.0	35.0	34.0					7																	142651272		2203	4300	6503	SO:0001630	splice_region_variant	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142651272T>C	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.924+1A>G	7.37:g.142651272T>C							p.K308R	NM_000420	NP_000411	P23276	KELL_HUMAN			8	1133	-	Melanoma(164;0.059)		308			Extracellular (Potential).		B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.923A>G	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	T	11.68	1.710353	0.30322	.	.	ENSG00000197993	ENST00000355265	T	0.74737	-0.87	6.07	4.91	0.64330	Peptidase M13 (1);	0.111063	0.40640	N	0.001042	T	0.63498	0.2516	L	0.34521	1.04	0.26645	N	0.972204	B	0.20780	0.048	B	0.22386	0.039	T	0.58098	-0.7696	10	0.56958	D	0.05	-2.3995	9.5742	0.39447	0.1562:0.0:0.0:0.8438	.	308	P23276	KELL_HUMAN	R	308	ENSP00000347409:K308R	ENSP00000347409:K308R	K	-	2	0	KEL	142361394	1.000000	0.71417	0.995000	0.50966	0.003000	0.03518	4.157000	0.58144	1.096000	0.41439	-0.481000	0.04817	AAG		0.547	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420	Missense_Mutation
XKR4	114786	broad.mit.edu	37	8	56436491	56436491	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr8:56436491G>A	ENST00000327381.6	+	3	1758	c.1658G>A	c.(1657-1659)cGc>cAc	p.R553H	RP11-628E19.2_ENST00000522918.1_RNA	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	553						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TCCAACAACCGCAGTGTTGTC	0.592																																						uc003xsf.2																			0				pancreas(2)	2						c.(1657-1659)CGC>CAC		XK, Kell blood group complex subunit-related							66.0	68.0	68.0					8																	56436491		2203	4300	6503	SO:0001583	missense	114786					integral to membrane		g.chr8:56436491G>A	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1658G>A	8.37:g.56436491G>A	ENSP00000328326:p.Arg553His						p.R553H	NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		3	1690	+			553					Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	c.1658G>A	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.369632	0.61624	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	D	0.84730	-1.89	5.95	5.95	0.96441	.	0.366493	0.32655	N	0.005816	D	0.89989	0.6875	L	0.41492	1.28	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88742	0.3244	10	0.45353	T	0.12	0.8557	20.3931	0.98965	0.0:0.0:1.0:0.0	.	553	Q5GH76	XKR4_HUMAN	H	553	ENSP00000328326:R553H	ENSP00000328326:R553H	R	+	2	0	XKR4	56599045	1.000000	0.71417	1.000000	0.80357	0.175000	0.22909	7.876000	0.87215	2.824000	0.97209	0.655000	0.94253	CGC		0.592	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898	
JPH1	56704	broad.mit.edu	37	8	75171693	75171693	+	Silent	SNP	C	C	T	rs199614841	byFrequency	TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr8:75171693C>T	ENST00000342232.4	-	3	1225	c.1185G>A	c.(1183-1185)gcG>gcA	p.A395A		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	395	Ala-rich.				calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GAGCGGCCAGCGCGGCCTGGT	0.592													C|||	19	0.00379393	0.0	0.0	5008	,	,		15804	0.0		0.0	False		,,,				2504	0.0194					uc003yae.2																			0				ovary(1)	1						c.(1183-1185)GCG>GCA		junctophilin 1		C		0,4404		0,0,2202	32.0	34.0	33.0		1185	-10.2	0.0	8		33	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	JPH1	NM_020647.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		395/662	75171693	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75171693C>T	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.1185G>A	8.37:g.75171693C>T						JPH1_uc003yaf.2_Silent_p.A395A|JPH1_uc003yag.1_Silent_p.A259A	p.A395A	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		3	1225	-	Breast(64;0.00576)		395			Ala-rich.|Cytoplasmic (Potential).		B2RTZ0	Silent	SNP	ENST00000342232.4	37	c.1185G>A	CCDS6217.1																																																																																				0.592	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1		
GEM	2669	broad.mit.edu	37	8	95262754	95262754	+	Silent	SNP	C	C	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr8:95262754C>T	ENST00000297596.2	-	5	939	c.675G>A	c.(673-675)caG>caA	p.Q225Q	GEM_ENST00000396194.2_Silent_p.Q225Q	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	225					cell surface receptor signaling pathway (GO:0007166)|chromosome organization (GO:0051276)|immune response (GO:0006955)|metaphase plate congression (GO:0051310)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic side of plasma membrane (GO:0009898)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle midzone (GO:0051233)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			TCACGTTGTGCTGGACAGCTG	0.562																																					GBM(125;80 1653 28655 32188 47338)|Esophageal Squamous(19;97 579 13602 49091 51766)	uc003ygj.2																			0				lung(1)	1						c.(673-675)CAG>CAA		GTP-binding mitogen-induced T-cell protein							60.0	54.0	56.0					8																	95262754		2203	4300	6503	SO:0001819	synonymous_variant	2669				cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding	g.chr8:95262754C>T		CCDS6261.1	8q13-q21	2014-05-09	2001-11-28		ENSG00000164949	ENSG00000164949			4234	protein-coding gene	gene with protein product	"""kinase-inducible Ras-like protein"""	600164	"""GTP-binding protein overexpressed in skeletal muscle"""			7912851, 11956230	Standard	NM_005261		Approved	KIR	uc003ygj.3	P55040	OTTHUMG00000164392	ENST00000297596.2:c.675G>A	8.37:g.95262754C>T						GEM_uc003ygi.2_Silent_p.Q225Q	p.Q225Q	NM_005261	NP_005252	P55040	GEM_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		5	924	-	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	225					B2RA31	Silent	SNP	ENST00000297596.2	37	c.675G>A	CCDS6261.1																																																																																				0.562	GEM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378566.1	NM_181702	
CNTNAP3	79937	broad.mit.edu	37	9	39103796	39103796	+	Silent	SNP	G	G	A	rs145100345	byFrequency	TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr9:39103796G>A	ENST00000297668.6	-	16	2554	c.2481C>T	c.(2479-2481)tcC>tcT	p.S827S	CNTNAP3_ENST00000358144.2_Silent_p.S739S|CNTNAP3_ENST00000377656.2_Silent_p.S826S	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	827	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S827S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TAAACACCCCGGAGGAAACTG	0.483													G|||	11	0.00219649	0.0015	0.0	5008	,	,		15781	0.002		0.002	False		,,,				2504	0.0051					uc004abi.2																			1	Substitution - coding silent(1)		endometrium(1)	ovary(1)	1						c.(2479-2481)TCC>TCT		cell recognition molecule CASPR3 precursor		G		4,4402	6.2+/-15.9	0,4,2199	34.0	39.0	38.0		2481	-5.6	0.8	9	dbSNP_134	38	6,8594	4.3+/-15.6	0,6,4294	no	coding-synonymous	CNTNAP3	NM_033655.3		0,10,6493	AA,AG,GG		0.0698,0.0908,0.0769		827/1289	39103796	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39103796G>A	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.2481C>T	9.37:g.39103796G>A						CNTNAP3_uc004abj.2_Silent_p.S826S|CNTNAP3_uc011lqr.1_RNA|CNTNAP3_uc004abk.1_Silent_p.S827S	p.S827S	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	16	2720	-			827			Extracellular (Potential).|Laminin G-like 3.		B1AMA0|Q9C0E9	Silent	SNP	ENST00000297668.6	37	c.2481C>T	CCDS6616.1																																																																																				0.483	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655	
TUBBP5	643224	broad.mit.edu	37	9	141071110	141071110	+	RNA	SNP	A	A	G			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr9:141071110A>G	ENST00000503395.1	+	0	1735									tubulin, beta pseudogene 5									p.P243P(7)									TGCGCTTCCCAGGCCAGCTGA	0.597																																						uc004com.2																			7	Substitution - coding silent(7)		kidney(3)|prostate(2)|endometrium(2)		0						c.(511-513)CCA>CCG		RecName: Full=Putative tubulin beta-4q chain;																																						643224							g.chr9:141071110A>G	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141071110A>G						TUBBP5_uc010ncq.2_3'UTR	p.P171P							4	774	+									Silent	SNP	ENST00000503395.1	37	c.513A>G																																																																																					0.597	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156	
STK26	51765	broad.mit.edu	37	X	131205232	131205232	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chrX:131205232G>A	ENST00000354719.6	+	8	1135	c.919G>A	c.(919-921)Gag>Aag	p.E307K	MST4_ENST00000394335.2_Missense_Mutation_p.E230K|MST4_ENST00000496850.1_Missense_Mutation_p.E245K|MST4_ENST00000481105.1_Missense_Mutation_p.E329K|MST4_ENST00000394334.2_Missense_Mutation_p.E307K																endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					ATCTGATTCCGAGGGCTCTGA	0.348																																						uc004ewk.1																			0				ovary(3)|lung(3)|stomach(2)|upper_aerodigestive_tract(1)	9						c.(919-921)GAG>AAG		serine/threonine protein kinase MST4 isoform 1							119.0	118.0	118.0					X																	131205232		2203	4300	6503	SO:0001583	missense	51765				cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:131205232G>A																												ENST00000354719.6:c.919G>A	X.37:g.131205232G>A	ENSP00000346755:p.Glu307Lys					MST4_uc004ewl.1_Missense_Mutation_p.E230K|MST4_uc011mux.1_Missense_Mutation_p.E329K|MST4_uc010nrj.1_Missense_Mutation_p.E307K|MST4_uc004ewm.1_Missense_Mutation_p.E245K	p.E307K	NM_016542	NP_057626	Q9P289	MST4_HUMAN			8	1220	+	Acute lymphoblastic leukemia(192;0.000127)		307						Missense_Mutation	SNP	ENST00000354719.6	37	c.919G>A		.	.	.	.	.	.	.	.	.	.	G	17.77	3.471673	0.63737	.	.	ENSG00000134602	ENST00000394334;ENST00000481105;ENST00000354719;ENST00000394335;ENST00000496850	T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81	5.99	5.99	0.97316	.	0.169967	0.39615	N	0.001312	T	0.27489	0.0675	L	0.55213	1.73	0.58432	D	0.999998	B;P;P;P;B	0.43431	0.105;0.488;0.67;0.807;0.323	B;B;B;B;B	0.35655	0.015;0.094;0.145;0.207;0.064	T	0.02813	-1.1107	10	0.40728	T	0.16	.	19.4045	0.94643	0.0:0.0:1.0:0.0	.	329;307;245;230;307	B4E0Y9;Q8NBY1;Q9P289-3;Q9P289-2;Q9P289	.;.;.;.;MST4_HUMAN	K	307;329;307;230;245	ENSP00000377867:E307K;ENSP00000418753:E329K;ENSP00000346755:E307K;ENSP00000377868:E230K;ENSP00000419702:E245K	ENSP00000346755:E307K	E	+	1	0	AL109749.1	131032913	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	8.982000	0.93471	2.536000	0.85505	0.600000	0.82982	GAG		0.348	MST4-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000058308.2		
