#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
THAP3	90326	broad.mit.edu	37	1	6692962	6692962	+	Missense_Mutation	SNP	T	T	C			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr1:6692962T>C	ENST00000054650.4	+	6	703	c.545T>C	c.(544-546)cTt>cCt	p.L182P	DNAJC11_ENST00000465508.1_5'Flank|THAP3_ENST00000307896.6_Missense_Mutation_p.L181P|THAP3_ENST00000377627.3_Intron	NM_001195753.1	NP_001182682.1	Q8WTV1	THAP3_HUMAN	THAP domain containing, apoptosis associated protein 3	182							DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L182P(1)		breast(1)|cervix(1)|large_intestine(1)|prostate(1)	4	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		AGCTATGCCCTTTTGGACTTA	0.567																																						uc001aoc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(544-546)CTT>CCT		RecName: Full=THAP domain-containing protein 3;							80.0	82.0	82.0					1																	6692962		876	1991	2867	SO:0001583	missense	90326						DNA binding|metal ion binding	g.chr1:6692962T>C	BC022081	CCDS86.1, CCDS55572.1, CCDS55573.1	1p36.1	2013-01-25			ENSG00000041988	ENSG00000041988		"""THAP (C2CH-type zinc finger) domain containing"""	20855	protein-coding gene	gene with protein product		612532				12575992	Standard	NM_138350		Approved		uc001aod.3	Q8WTV1	OTTHUMG00000001440	ENST00000054650.4:c.545T>C	1.37:g.6692962T>C	ENSP00000054650:p.Leu182Pro					THAP3_uc001aod.2_Missense_Mutation_p.L181P|THAP3_uc001aoe.1_Intron	p.L182P			Q8WTV1	THAP3_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	6	704	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	182					Q569K1|Q5TH66|Q5TH67|Q8N8T6|Q9BSC7|Q9Y3H2|Q9Y3H3	Missense_Mutation	SNP	ENST00000054650.4	37	c.545T>C	CCDS55572.1	.	.	.	.	.	.	.	.	.	.	T	18.71	3.682959	0.68157	.	.	ENSG00000041988	ENST00000054650;ENST00000307896	D;D	0.96802	-4.13;-4.13	4.05	4.05	0.47172	.	0.529158	0.14984	N	0.287069	D	0.97284	0.9112	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	D	0.96587	0.9435	10	0.72032	D	0.01	-24.6352	9.3095	0.37895	0.0:0.0:0.0:1.0	.	181;182	Q8WTV1-3;Q8WTV1	.;THAP3_HUMAN	P	182;181	ENSP00000054650:L182P;ENSP00000311537:L181P	ENSP00000054650:L182P	L	+	2	0	THAP3	6615549	0.996000	0.38824	0.997000	0.53966	0.985000	0.73830	4.508000	0.60441	1.683000	0.51011	0.379000	0.24179	CTT		0.567	THAP3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004203.1	NM_138350	
NOTCH2	4853	broad.mit.edu	37	1	120512286	120512286	+	Missense_Mutation	SNP	T	T	C	rs144936899		TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr1:120512286T>C	ENST00000256646.2	-	6	1175	c.956A>G	c.(955-957)aAt>aGt	p.N319S		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	319	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATAGCCTCCATTGCGGTTGGC	0.532			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				T|||	1	0.000199681	0.0	0.0	5008	,	,		22194	0.001		0.0	False		,,,				2504	0.0					uc001eik.2				Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		0				lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(955-957)AAT>AGT		notch 2 preproprotein		T	SER/ASN,SER/ASN	0,4406		0,0,2203	143.0	106.0	118.0		956,956	5.7	1.0	1	dbSNP_134	118	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	NOTCH2	NM_001200001.1,NM_024408.3	46,46	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	319/1236,319/2472	120512286	1,13005	2203	4300	6503	SO:0001583	missense	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120512286T>C	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.956A>G	1.37:g.120512286T>C	ENSP00000256646:p.Asn319Ser					NOTCH2_uc001eil.2_Missense_Mutation_p.N319S|NOTCH2_uc001eim.3_Missense_Mutation_p.N236S	p.N319S	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	1212	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	319			Extracellular (Potential).|EGF-like 8; calcium-binding (Potential).		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.956A>G	CCDS908.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	T	16.07	3.018331	0.54576	0.0	1.16E-4	ENSG00000134250	ENST00000256646;ENST00000539617	D	0.86956	-2.19	5.73	5.73	0.89815	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.40302	U	0.001126	D	0.82907	0.5139	N	0.26130	0.795	0.36644	D	0.877013	P;D;P	0.63880	0.951;0.993;0.625	P;P;B	0.60345	0.735;0.873;0.315	T	0.82222	-0.0564	10	0.22109	T	0.4	.	15.1985	0.73116	0.0:0.0:0.0:1.0	.	280;319;319	D2WEZ3;Q6IQ50;Q04721	.;.;NOTC2_HUMAN	S	319;280	ENSP00000256646:N319S	ENSP00000256646:N319S	N	-	2	0	NOTCH2	120313809	0.984000	0.35163	0.997000	0.53966	0.990000	0.78478	2.503000	0.45407	2.186000	0.69663	0.533000	0.62120	AAT		0.532	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408	
NBPF10	100132406	broad.mit.edu	37	1	145293478	145293478	+	Missense_Mutation	SNP	C	C	T			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr1:145293478C>T	ENST00000369339.3	+	3	326	c.73C>T	c.(73-75)Cgc>Tgc	p.R25C	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Missense_Mutation_p.R25C|NBPF10_ENST00000369338.1_Intron			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	296						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CGAGACATTGCGCCCCCAGCT	0.502																																						uc001end.3																			0					0						c.(73-75)CGC>TGC		hypothetical protein LOC100132406																																				SO:0001583	missense	100132406							g.chr1:145293478C>T	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.73C>T	1.37:g.145293478C>T	ENSP00000358345:p.Arg25Cys					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Missense_Mutation_p.R25C|NOTCH2NL_uc010oyh.1_RNA|NBPF10_uc001emq.1_Missense_Mutation_p.R25C	p.R25C	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	1	108	+	all_hematologic(923;0.032)		25					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37	c.73C>T		.	.	.	.	.	.	.	.	.	.	.	7.184	0.590223	0.13812	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.03441	3.93	1.06	-1.21	0.09524	.	.	.	.	.	T	0.01092	0.0036	L	0.51914	1.62	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.44711	-0.9310	9	0.39692	T	0.17	.	3.9047	0.09177	0.0:0.4611:0.0:0.5389	.	25	A8MQ30	.	C	25	ENSP00000345684:R25C	ENSP00000345684:R25C	R	+	1	0	NBPF10	144004835	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.505000	0.06367	-0.464000	0.06963	0.184000	0.17185	CGC		0.502	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703	
TCHH	7062	broad.mit.edu	37	1	152081317	152081317	+	Missense_Mutation	SNP	C	C	T			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr1:152081317C>T	ENST00000368804.1	-	2	4375	c.4376G>A	c.(4375-4377)cGt>cAt	p.R1459H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1459	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTTCTGTGACGCTCCTGGCG	0.547																																						uc001ezp.2																			0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(4375-4377)CGT>CAT		trichohyalin							90.0	88.0	89.0					1																	152081317		1889	4114	6003	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152081317C>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4376G>A	1.37:g.152081317C>T	ENSP00000357794:p.Arg1459His					TCHH_uc009wne.1_Missense_Mutation_p.R1459H	p.R1459H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4376	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1459			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.4376G>A	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	N	8.826	0.938841	0.18281	.	.	ENSG00000159450	ENST00000368804	T	0.05717	3.4	3.82	2.9	0.33743	.	.	.	.	.	T	0.02267	0.0070	M	0.69823	2.125	0.09310	N	1	P	0.45715	0.865	B	0.29716	0.106	T	0.41288	-0.9517	9	0.45353	T	0.12	.	7.3017	0.26424	0.0:0.8765:0.0:0.1235	.	1459	Q07283	TRHY_HUMAN	H	1459	ENSP00000357794:R1459H	ENSP00000357794:R1459H	R	-	2	0	TCHH	150347941	0.982000	0.34865	0.009000	0.14445	0.023000	0.10783	0.111000	0.15458	0.818000	0.34468	0.405000	0.27470	CGT		0.547	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113	
PTEN	5728	broad.mit.edu	37	10	89692923	89692923	+	Missense_Mutation	SNP	G	G	A			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr10:89692923G>A	ENST00000371953.3	+	5	1764	c.407G>A	c.(406-408)tGt>tAt	p.C136Y		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	136	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		C -> Y (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P3). {ECO:0000269|PubMed:9735393}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.C136Y(8)|p.C136F(5)|p.?(5)|p.R55fs*1(5)|p.C136fs*1(2)|p.Y27fs*1(2)|p.I135_A137>T(1)|p.A121_F145del(1)|p.I135fs*6(1)|p.T131fs*42(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GTAATGATATGTGCATATTTA	0.393		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		69	Whole gene deletion(37)|Substitution - Missense(13)|Deletion - Frameshift(10)|Unknown(5)|Insertion - Frameshift(2)|Deletion - In frame(1)|Complex - deletion inframe(1)	p.C136Y(7)|p.R55fs*1(4)|p.C136F(3)|p.C136fs*1(2)|p.C136R(2)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.I135_A137>T(1)|p.A121_F145del(1)|p.I135fs*6(1)|p.C136_A137insGM(1)|p.C136W(1)|p.T131fs*42(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(14)|endometrium(10)|breast(8)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(3)|meninges(1)|soft_tissue(1)|urinary_tract(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	GRCh37	CM983501	PTEN	M		c.(406-408)TGT>TAT		phosphatase and tensin homolog							123.0	117.0	119.0					10																	89692923		2203	4300	6503	SO:0001583	missense	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692923G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.407G>A	10.37:g.89692923G>A	ENSP00000361021:p.Cys136Tyr	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.C136Y	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1438	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	136		C -> Y (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P3).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.407G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.658698	0.88154	.	.	ENSG00000171862	ENST00000371953	D	0.98747	-5.11	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99489	0.9818	H	0.96604	3.85	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98145	1.0438	9	.	.	.	-4.1412	18.7776	0.91918	0.0:0.0:1.0:0.0	.	136	P60484	PTEN_HUMAN	Y	136	ENSP00000361021:C136Y	.	C	+	2	0	PTEN	89682903	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.429000	0.97481	2.411000	0.81874	0.655000	0.94253	TGT		0.393	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
DUSP8	1850	broad.mit.edu	37	11	1577819	1577820	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr11:1577819_1577820delCG	ENST00000397374.3	-	7	1933_1934	c.1806_1807delCG	c.(1804-1809)cgcggcfs	p.G603fs	DUSP8_ENST00000331588.4_Frame_Shift_Del_p.G603fs|DUSP8_ENST00000528778.1_5'Flank	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	603					inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		AGCTCCTCGCCGCGCGCGCGCC	0.752																																						uc001lts.2																			0					0						c.(1804-1809)CGCGGCfs		dual specificity phosphatase 8				31,2529		3,25,1252						2.2	0.4			2	79,5245		11,57,2594	no	frameshift	DUSP8	NM_004420.2		14,82,3846	A1A1,A1R,RR		1.4838,1.2109,1.3952				110,7774				SO:0001589	frameshift_variant	1850				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr11:1577819_1577820delCG		CCDS7724.1	11p15.5	2011-06-09			ENSG00000184545	ENSG00000184545		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3074	protein-coding gene	gene with protein product	"""serine/threonine specific protein phosphatase"", ""H1 phosphatase, vaccinia virus homolog"""	602038	"""chromosome 11 open reading frame 81"""	C11orf81		7561881, 9192849	Standard	NM_004420		Approved	HVH-5, HB5, FLJ42958	uc001lts.2	Q13202	OTTHUMG00000133348	ENST00000397374.3:c.1806_1807delCG	11.37:g.1577827_1577828delCG	ENSP00000380530:p.Gly603fs						p.R602fs	NM_004420	NP_004411	Q13202	DUS8_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)	7	1934_1935	-		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	602_603					Q86SS8	Frame_Shift_Del	DEL	ENST00000397374.3	37	c.1806_1807delCG	CCDS7724.1																																																																																				0.752	DUSP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257178.3	NM_004420	
OR4C11	219429	broad.mit.edu	37	11	55371120	55371120	+	Missense_Mutation	SNP	C	C	G			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr11:55371120C>G	ENST00000302231.4	-	1	754	c.730G>C	c.(730-732)Gta>Cta	p.V244L		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						AAGATGACTACAATTATGTGA	0.408																																						uc010rii.1																			0				ovary(1)	1						c.(730-732)GTA>CTA		olfactory receptor, family 4, subfamily C,							71.0	61.0	64.0					11																	55371120		2179	4002	6181	SO:0001583	missense	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371120C>G	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"""GPCR / Class A : Olfactory receptors"""	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.730G>C	11.37:g.55371120C>G	ENSP00000306651:p.Val244Leu						p.V244L	NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN			1	730	-			244			Helical; Name=6; (Potential).		B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	37	c.730G>C	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433854	0.25813	.	.	ENSG00000172188	ENST00000302231	T	0.00216	8.53	4.34	3.42	0.39159	GPCR, rhodopsin-like superfamily (1);	0.156593	0.29145	U	0.013001	T	0.00440	0.0014	H	0.95611	3.695	0.09310	N	1	B	0.30793	0.295	B	0.36845	0.234	T	0.06267	-1.0836	10	0.87932	D	0	.	11.2668	0.49114	0.0:0.9082:0.0:0.0918	.	244	Q6IEV9	OR4CB_HUMAN	L	244	ENSP00000306651:V244L	ENSP00000306651:V244L	V	-	1	0	OR4C11	55127696	0.000000	0.05858	0.005000	0.12908	0.006000	0.05464	0.778000	0.26732	1.181000	0.42912	0.478000	0.44815	GTA		0.408	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700	
OR5D13	390142	broad.mit.edu	37	11	55541619	55541619	+	Missense_Mutation	SNP	C	C	T	rs369729738		TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr11:55541619C>T	ENST00000361760.1	+	1	706	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	236			R -> L (in dbSNP:rs7124871).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGCAAGTGGGCGCCAGAAAAC	0.408																																						uc010ril.1																			0				ovary(1)|pancreas(1)|skin(1)	3						c.(706-708)CGC>TGC		olfactory receptor, family 5, subfamily D,		C	CYS/ARG	0,4400		0,0,2200	134.0	119.0	124.0		706	-7.6	0.0	11		124	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR5D13	NM_001001967.1	180	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	benign	236/315	55541619	1,12991	2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541619C>T	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.706C>T	11.37:g.55541619C>T	ENSP00000354800:p.Arg236Cys						p.R236C	NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN			1	706	+		all_epithelial(135;0.196)	236			Cytoplasmic (Potential).		Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.706C>T	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.680976	0.29872	0.0	1.16E-4	ENSG00000198877	ENST00000361760	T	0.00337	8.05	3.82	-7.64	0.01286	GPCR, rhodopsin-like superfamily (1);	0.690085	0.10966	N	0.614455	T	0.00300	0.0009	M	0.91663	3.23	0.09310	N	1	B	0.24823	0.112	B	0.24269	0.052	T	0.42783	-0.9431	10	0.66056	D	0.02	-0.5898	2.0261	0.03519	0.5273:0.1688:0.1033:0.2006	.	236	Q8NGL4	OR5DD_HUMAN	C	236	ENSP00000354800:R236C	ENSP00000354800:R236C	R	+	1	0	OR5D13	55298195	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.486000	0.06513	-1.025000	0.03334	-0.527000	0.04329	CGC		0.408	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967	
OR5AS1	219447	broad.mit.edu	37	11	55798503	55798503	+	Silent	SNP	C	C	T			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr11:55798503C>T	ENST00000313555.1	+	1	609	c.609C>T	c.(607-609)tgC>tgT	p.C203C		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TTGCTTTGTGCAGCTTCATCC	0.423																																						uc010riw.1																			0				ovary(3)|liver(1)|skin(1)	5						c.(607-609)TGC>TGT		olfactory receptor, family 5, subfamily AS,							303.0	300.0	301.0					11																	55798503		2201	4296	6497	SO:0001819	synonymous_variant	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798503C>T	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.609C>T	11.37:g.55798503C>T							p.C203C	NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN			1	609	+	Esophageal squamous(21;0.00693)		203			Helical; Name=5; (Potential).		Q6IFB8	Silent	SNP	ENST00000313555.1	37	c.609C>T	CCDS31516.1																																																																																				0.423	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921	
FADS2	9415	broad.mit.edu	37	11	61615699	61615699	+	Silent	SNP	G	G	A			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr11:61615699G>A	ENST00000278840.4	+	5	1317	c.687G>A	c.(685-687)aaG>aaA	p.K229K	FADS2_ENST00000257261.6_Silent_p.K207K|FADS2_ENST00000522056.1_Silent_p.K198K|FADS2_ENST00000521849.1_Silent_p.K229K	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	229					alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	TCTTCCACAAGGATCCCGATG	0.557																																						uc001nsl.1																			0				ovary(1)|pancreas(1)	2						c.(685-687)AAG>AAA		fatty acid desaturase 2	Alpha-Linolenic Acid(DB00132)						205.0	157.0	173.0					11																	61615699		2202	4299	6501	SO:0001819	synonymous_variant	9415				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding	g.chr11:61615699G>A	AF084559	CCDS8012.1, CCDS60807.1, CCDS60808.1	11q12.2	2013-01-25			ENSG00000134824	ENSG00000134824	1.14.19.3	"""Fatty acid desaturases"""	3575	protein-coding gene	gene with protein product	"""delta-6-desaturase"""	606149		LLCDL2			Standard	NM_004265		Approved	FADSD6, D6D, TU13, DES6, SLL0262	uc001nsl.1	O95864	OTTHUMG00000163794	ENST00000278840.4:c.687G>A	11.37:g.61615699G>A						FADS2_uc001nsj.2_Silent_p.K207K|FADS2_uc010rlo.1_Silent_p.K198K|FADS2_uc001nsk.2_Silent_p.K229K	p.K229K	NM_004265	NP_004256	O95864	FADS2_HUMAN			5	837	+			229			Cytoplasmic (Potential).		A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	Silent	SNP	ENST00000278840.4	37	c.687G>A	CCDS8012.1																																																																																				0.557	FADS2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375586.2	NM_004265	
VEGFB	7423	broad.mit.edu	37	11	64004662	64004663	+	Frame_Shift_Ins	INS	-	-	A			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr11:64004662_64004663insA	ENST00000309422.2	+	5	674_675	c.378_379insA	c.(379-381)aaafs	p.K127fs	RP11-783K16.14_ENST00000534988.1_RNA|RP11-783K16.14_ENST00000539963.1_RNA|VEGFB_ENST00000426086.2_Frame_Shift_Ins_p.K127fs	NM_001243733.1|NM_003377.4	NP_001230662.1|NP_003368.1	P49765	VEGFB_HUMAN	vascular endothelial growth factor B	127					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|coronary vasculature development (GO:0060976)|induction of positive chemotaxis (GO:0050930)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of vascular wound healing (GO:0035470)|protein O-linked glycosylation (GO:0006493)|response to drug (GO:0042493)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|heparin binding (GO:0008201)|vascular endothelial growth factor receptor 1 binding (GO:0043183)	p.K129fs*5(2)		endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6					Aflibercept(DB08885)	TTTTCAGACCTAAAAAAAAGGA	0.47																																						uc001nyw.2																			2	Deletion - Frameshift(2)		large_intestine(2)		0						c.(376-381)CCTAAAfs		vascular endothelial growth factor B precursor																																				SO:0001589	frameshift_variant	7423				anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway	extracellular region|extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding	g.chr11:64004662_64004663insA	BC008818	CCDS8062.1, CCDS58144.1	11q13	2005-09-29				ENSG00000173511			12681	protein-coding gene	gene with protein product		601398		VRF		8637916, 8919691	Standard	NM_001243733		Approved	VEGFL	uc001nyw.3	P49765		ENST00000309422.2:c.386dupA	11.37:g.64004670_64004670dupA	ENSP00000311127:p.Lys127fs					VEGFB_uc001nyx.2_Frame_Shift_Ins_p.P126fs	p.P126fs	NM_003377	NP_003368	P49765	VEGFB_HUMAN			5	418_419	+			126_127					Q16528	Frame_Shift_Ins	INS	ENST00000309422.2	37	c.378_379insA	CCDS8062.1																																																																																				0.470	VEGFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396393.2	NM_003377	
CWF19L2	143884	broad.mit.edu	37	11	107224390	107224390	+	Missense_Mutation	SNP	G	G	A	rs146937549		TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr11:107224390G>A	ENST00000282251.5	-	13	1972	c.1945C>T	c.(1945-1947)Cgt>Tgt	p.R649C	CWF19L2_ENST00000433523.1_Missense_Mutation_p.R649C	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	649							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TCACCAAGACGTTCTCTCTCA	0.403													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17802	0.0		0.0	False		,,,				2504	0.0					uc010rvp.1																			0					0						c.(1945-1947)CGT>TGT		CWF19-like 2, cell cycle control							111.0	109.0	110.0					11																	107224390		2201	4298	6499	SO:0001583	missense	143884						catalytic activity	g.chr11:107224390G>A	AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.1945C>T	11.37:g.107224390G>A	ENSP00000282251:p.Arg649Cys					CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA	p.R649C	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)	13	1975	-		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)	649			Potential.		A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	ENST00000282251.5	37	c.1945C>T	CCDS8336.2	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	7.975	0.749962	0.15778	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	T;T	0.19938	2.79;2.11	5.95	0.361	0.16107	.	0.473727	0.27500	N	0.019092	T	0.12561	0.0305	N	0.16307	0.4	0.25845	N	0.984019	B	0.09022	0.002	B	0.09377	0.004	T	0.23084	-1.0198	10	0.54805	T	0.06	-0.016	12.2847	0.54786	0.3096:0.0:0.6904:0.0	.	649	Q2TBE0	C19L2_HUMAN	C	649	ENSP00000282251:R649C;ENSP00000387533:R649C	ENSP00000282251:R649C	R	-	1	0	CWF19L2	106729600	0.001000	0.12720	0.127000	0.21898	0.298000	0.27526	0.793000	0.26944	0.145000	0.18977	-0.150000	0.13652	CGT		0.403	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434	
CACNA1C	775	broad.mit.edu	37	12	2795380	2795380	+	Missense_Mutation	SNP	G	G	A	rs190288386	byFrequency	TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr12:2795380G>A	ENST00000347598.4	+	47	5873	c.5873G>A	c.(5872-5874)cGa>cAa	p.R1958Q	CACNA1C_ENST00000399591.1_Missense_Mutation_p.R1918Q|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R1935Q|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R1930Q|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R1945Q|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R1910Q|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R1916Q|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R1951Q|CACNA1C_ENST00000399655.1_Missense_Mutation_p.R1910Q|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R1910Q|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R1981Q|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R1927Q|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R1938Q|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R1981Q|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R1910Q|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R1929Q|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R1929Q|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R1910Q|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R1929Q|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R1918Q|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R1910Q|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R1945Q	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1993					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CAGAAGGACCGAGGGGGAGAC	0.582													g|||	2	0.000399361	0.0008	0.0	5008	,	,		21578	0.001		0.0	False		,,,				2504	0.0					uc009zdu.1																			0				ovary(10)|central_nervous_system(1)	11						c.(5977-5979)CGA>CAA		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						113.0	116.0	115.0					12																	2795380		1986	4158	6144	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2795380G>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.5873G>A	12.37:g.2795380G>A	ENSP00000266376:p.Arg1958Gln					CACNA1C_uc009zdv.1_Missense_Mutation_p.R1907Q|CACNA1C_uc001qkb.2_Missense_Mutation_p.R1910Q|CACNA1C_uc001qkc.2_Missense_Mutation_p.R1929Q|CACNA1C_uc001qke.2_Missense_Mutation_p.R1899Q|CACNA1C_uc001qkf.2_Missense_Mutation_p.R1918Q|CACNA1C_uc001qjz.2_Missense_Mutation_p.R1910Q|CACNA1C_uc001qkd.2_Missense_Mutation_p.R1929Q|CACNA1C_uc001qkg.2_Missense_Mutation_p.R1916Q|CACNA1C_uc009zdw.1_Missense_Mutation_p.R1951Q|CACNA1C_uc001qkh.2_Missense_Mutation_p.R1918Q|CACNA1C_uc001qkl.2_Missense_Mutation_p.R1958Q|CACNA1C_uc001qkn.2_Missense_Mutation_p.R1910Q|CACNA1C_uc001qko.2_Missense_Mutation_p.R1930Q|CACNA1C_uc001qkp.2_Missense_Mutation_p.R1910Q|CACNA1C_uc001qkr.2_Missense_Mutation_p.R1927Q|CACNA1C_uc001qku.2_Missense_Mutation_p.R1945Q|CACNA1C_uc001qkq.2_Missense_Mutation_p.R1938Q|CACNA1C_uc001qks.2_Missense_Mutation_p.R1910Q|CACNA1C_uc001qkt.2_Missense_Mutation_p.R1929Q|CACNA1C_uc001qki.1_Missense_Mutation_p.R1717Q|CACNA1C_uc001qkj.1_Missense_Mutation_p.R1681Q|CACNA1C_uc001qkk.1_Missense_Mutation_p.R1646Q|CACNA1C_uc001qkm.1_Missense_Mutation_p.R1706Q|CACNA1C_uc010sea.1_Missense_Mutation_p.R601Q|uc001qkx.1_Intron|CACNA1C_uc001qky.1_Missense_Mutation_p.R228Q	p.R1993Q	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	48	6291	+			1993			Cytoplasmic (Potential).		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.5978G>A	CCDS44788.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.046	-1.266128	0.01433	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	4.82	-0.275	0.12906	.	4.688350	0.01589	N	0.021467	T	0.09555	0.0235	N	0.00128	-2.045	0.09310	N	0.999998	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.001;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.04013	0.0;0.001;0.0;0.001;0.001;0.001;0.0;0.001;0.001;0.0;0.0;0.0;0.0;0.001;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.46721	-0.9171	10	0.02654	T	1	.	6.3008	0.21111	0.6123:0.2738:0.114:0.0	.	601;1951;1907;1993;1945;1929;1910;1927;1938;1910;1930;1910;1941;1958;1910;1945;1981;1918;1916;1918;1899;1929;1929;1910;1910	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	Q	1935;1910;1910;1938;1910;1929;1929;1918;1910;1958;1930;1910;1951;1927;1945;1916;1929;1910;1981;1945;1981;1918;1811	ENSP00000336982:R1935Q;ENSP00000382563:R1910Q;ENSP00000382552:R1910Q;ENSP00000382547:R1938Q;ENSP00000382506:R1910Q;ENSP00000382530:R1929Q;ENSP00000382546:R1929Q;ENSP00000382500:R1918Q;ENSP00000382549:R1910Q;ENSP00000266376:R1958Q;ENSP00000382515:R1930Q;ENSP00000382510:R1910Q;ENSP00000341092:R1951Q;ENSP00000382537:R1927Q;ENSP00000329877:R1945Q;ENSP00000382557:R1916Q;ENSP00000385724:R1929Q;ENSP00000382512:R1910Q;ENSP00000382542:R1981Q;ENSP00000382526:R1945Q;ENSP00000385896:R1981Q;ENSP00000382504:R1918Q	ENSP00000323129:R1811Q	R	+	2	0	CACNA1C	2665641	0.986000	0.35501	0.705000	0.30386	0.196000	0.23810	2.162000	0.42367	-0.196000	0.10366	-0.237000	0.12165	CGA		0.582	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719	
RB1	5925	broad.mit.edu	37	13	48934208	48934208	+	Nonsense_Mutation	SNP	T	T	A	rs577338869		TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr13:48934208T>A	ENST00000267163.4	+	7	801	c.663T>A	c.(661-663)tgT>tgA	p.C221*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	221					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(6)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TAATGCTATGTGTCCTTGACT	0.313		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		21	Whole gene deletion(15)|Unknown(6)	p.?(5)	bone(11)|breast(5)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358						c.(661-663)TGT>TGA		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						99.0	100.0	100.0					13																	48934208		2203	4299	6502	SO:0001587	stop_gained	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48934208T>A	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.663T>A	13.37:g.48934208T>A	ENSP00000267163:p.Cys221*	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010acs.1_RNA|RB1_uc010act.1_5'UTR	p.C221*	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	7	829	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	221					A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.663T>A	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	T	33	5.231953	0.95207	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7971	0.40742	0.0:0.0807:0.0:0.9193	.	.	.	.	X	200;221	.	ENSP00000267163:C221X	C	+	3	2	RB1	47832209	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.807000	0.47955	2.126000	0.65437	0.528000	0.53228	TGT		0.313	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
RPS8P10	388076	broad.mit.edu	37	15	22440477	22440477	+	IGR	SNP	T	T	A			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr15:22440477T>A								RP11-2F9.4 (4300 upstream) : IGHV1OR15-1 (7904 downstream)																							GCTCCCTTCTTGCAGCCCAGG	0.468																																						uc001yug.2																			0											c.(370-372)AAG>TAG		full-length cDNA clone CS0DI014YE21 of Placenta Cot 25-normalized of Homo sapiens (human).																																				SO:0001628	intergenic_variant	0							g.chr15:22440477T>A																													15.37:g.22440477T>A							p.K124*							1	389	-									Nonsense_Mutation	SNP		37	c.370A>T																																																																																				0	0.468								
TICRR	90381	broad.mit.edu	37	15	90161424	90161424	+	Missense_Mutation	SNP	C	C	A			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr15:90161424C>A	ENST00000268138.7	+	17	3107	c.3002C>A	c.(3001-3003)tCc>tAc	p.S1001Y	KIF7_ENST00000558928.1_5'UTR|TICRR_ENST00000560985.1_Missense_Mutation_p.S1000Y			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1001					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										GTTGAAGAGTCCCCTGAAAAA	0.388																																						uc002boe.2																			0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(3001-3003)TCC>TAC		leucine-rich repeat kinase 1							371.0	354.0	360.0					15																	90161424		1928	4127	6055	SO:0001583	missense	90381				cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding	g.chr15:90161424C>A	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.3002C>A	15.37:g.90161424C>A	ENSP00000268138:p.Ser1001Tyr						p.S1001Y	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		17	3002	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		1001					B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	c.3002C>A	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964331	0.74131	.	.	ENSG00000140534	ENST00000268138	T	0.23754	1.89	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.51669	0.1688	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58364	-0.7649	10	0.87932	D	0	-16.1552	17.4544	0.87603	0.0:1.0:0.0:0.0	.	1001	Q7Z2Z1	TICRR_HUMAN	Y	1001	ENSP00000268138:S1001Y	ENSP00000268138:S1001Y	S	+	2	0	C15orf42	87962428	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	5.345000	0.65987	2.174000	0.68829	0.313000	0.20887	TCC		0.388	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259	
ACSM2B	348158	broad.mit.edu	37	16	20554273	20554273	+	Missense_Mutation	SNP	G	G	A	rs370065320	byFrequency	TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr16:20554273G>A	ENST00000329697.6	-	12	1640	c.1472C>T	c.(1471-1473)aCg>aTg	p.T491M	ACSM2B_ENST00000565322.1_Missense_Mutation_p.T412M|ACSM2B_ENST00000567001.1_Missense_Mutation_p.T491M|ACSM2B_ENST00000567288.1_5'Flank|ACSM2B_ENST00000565232.1_Missense_Mutation_p.T491M	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	491					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GATCACAGCCGTCTCAACCAC	0.557													g|||	2	0.000399361	0.0008	0.0	5008	,	,		19943	0.001		0.0	False		,,,				2504	0.0					uc002dhj.3																			0				skin(3)|ovary(1)|central_nervous_system(1)	5						c.(1471-1473)ACG>ATG		acyl-CoA synthetase medium-chain family member		G	MET/THR,MET/THR	1,4401	2.1+/-5.4	0,1,2200	102.0	98.0	100.0		1472,1472	2.1	0.0	16		100	0,8598		0,0,4299	no	missense,missense	ACSM2B	NM_001105069.1,NM_182617.3	81,81	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	491/578,491/578	20554273	1,12999	2201	4299	6500	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20554273G>A	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1472C>T	16.37:g.20554273G>A	ENSP00000327453:p.Thr491Met					ACSM2B_uc002dhk.3_Missense_Mutation_p.T491M|ACSM2B_uc010bwf.1_Missense_Mutation_p.T491M	p.T491M	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN			13	1682	-			491					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.1472C>T	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872350	0.33069	2.27E-4	0.0	ENSG00000066813	ENST00000329697	T	0.58940	0.3	3.1	2.13	0.27403	AMP-dependent synthetase/ligase (1);	0.575751	0.14538	N	0.313470	T	0.67458	0.2895	L	0.52011	1.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	T	0.66093	-0.6009	10	0.72032	D	0.01	-0.1611	10.0092	0.41975	0.1048:0.0:0.8951:0.0	.	491;491	A8K051;Q68CK6	.;ACS2B_HUMAN	M	491	ENSP00000327453:T491M	ENSP00000327453:T491M	T	-	2	0	ACSM2B	20461774	0.019000	0.18553	0.006000	0.13384	0.289000	0.27227	1.928000	0.40104	0.644000	0.30656	-0.357000	0.07601	ACG		0.557	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617	
ATP2A3	489	broad.mit.edu	37	17	3851127	3851127	+	Missense_Mutation	SNP	T	T	A			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr17:3851127T>A	ENST00000352011.3	-	8	707	c.653A>T	c.(652-654)aAa>aTa	p.K218I	ATP2A3_ENST00000397035.3_Missense_Mutation_p.K218I|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000359983.3_Missense_Mutation_p.K218I|ATP2A3_ENST00000309890.7_Missense_Mutation_p.K218I|ATP2A3_ENST00000397041.3_Missense_Mutation_p.K218I|ATP2A3_ENST00000397043.3_Missense_Mutation_p.K218I			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	218					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		ACCCACCGCTTTGCCCGATGT	0.682																																					GBM(32;29 774 15719 37967)	uc002fxb.1																			0				ovary(3)|breast(1)|central_nervous_system(1)	5						c.(652-654)AAA>ATA		ATPase, Ca++ transporting, ubiquitous isoform b							20.0	22.0	21.0					17																	3851127		2110	4153	6263	SO:0001583	missense	489				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr17:3851127T>A		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.653A>T	17.37:g.3851127T>A	ENSP00000301387:p.Lys218Ile					ATP2A3_uc002fwx.1_Missense_Mutation_p.K218I|ATP2A3_uc002fwy.1_Missense_Mutation_p.K218I|ATP2A3_uc002fwz.1_Missense_Mutation_p.K218I|ATP2A3_uc002fxa.1_Missense_Mutation_p.K218I|ATP2A3_uc002fxc.1_Missense_Mutation_p.K218I|ATP2A3_uc002fxd.1_Missense_Mutation_p.K218I	p.K218I	NM_174955	NP_777615	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	8	804	-			218			Cytoplasmic (By similarity).		A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP	ENST00000352011.3	37	c.653A>T	CCDS11041.1	.	.	.	.	.	.	.	.	.	.	T	16.43	3.120357	0.56613	.	.	ENSG00000074370	ENST00000397043;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	D;D;D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.79;-2.79;-2.79	3.4	3.4	0.38934	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.063133	0.64402	D	0.000007	D	0.89760	0.6808	L	0.52573	1.65	0.54753	D	0.999989	P;P;B;B;B;B	0.45594	0.862;0.672;0.387;0.335;0.335;0.335	P;P;P;P;P;P	0.48873	0.593;0.587;0.553;0.52;0.52;0.52	D	0.90151	0.4221	10	0.59425	D	0.04	.	12.0237	0.53358	0.0:0.0:0.0:1.0	.	218;218;218;218;218;218	Q93084-4;Q93084-2;Q93084;Q93084-6;G3XAE1;Q93084-3	.;.;AT2A3_HUMAN;.;.;.	I	218	ENSP00000380236:K218I;ENSP00000301387:K218I;ENSP00000353072:K218I;ENSP00000380234:K218I;ENSP00000312577:K218I;ENSP00000380229:K218I	ENSP00000312577:K218I	K	-	2	0	ATP2A3	3797876	1.000000	0.71417	0.996000	0.52242	0.710000	0.40934	3.685000	0.54678	1.779000	0.52309	0.402000	0.26972	AAA		0.682	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953	
ANKFN1	162282	broad.mit.edu	37	17	54450196	54450196	+	Missense_Mutation	SNP	A	A	T			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr17:54450196A>T	ENST00000318698.2	+	6	835	c.800A>T	c.(799-801)cAt>cTt	p.H267L	ANKFN1_ENST00000566473.2_Missense_Mutation_p.H267L	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	267										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GGCTTTGAGCATGCCAGTGAG	0.433																																						uc002iun.1																			0				large_intestine(1)|ovary(1)	2						c.(799-801)CAT>CTT		ankyrin-repeat and fibronectin type III domain							121.0	104.0	110.0					17																	54450196		2203	4300	6503	SO:0001583	missense	162282							g.chr17:54450196A>T	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.800A>T	17.37:g.54450196A>T	ENSP00000321627:p.His267Leu						p.H267L	NM_153228	NP_694960	Q8N957	ANKF1_HUMAN			6	835	+			267						Missense_Mutation	SNP	ENST00000318698.2	37	c.800A>T	CCDS32686.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.556870	0.86231	.	.	ENSG00000153930	ENST00000318698	T	0.24151	1.87	5.66	5.66	0.87406	Fibronectin, type III (1);	0.044865	0.85682	D	0.000000	T	0.47116	0.1428	M	0.72118	2.19	0.80722	D	1	D	0.71674	0.998	P	0.59115	0.852	T	0.49062	-0.8978	10	0.66056	D	0.02	-12.5491	15.9017	0.79384	1.0:0.0:0.0:0.0	.	267	Q8N957	ANKF1_HUMAN	L	267	ENSP00000321627:H267L	ENSP00000321627:H267L	H	+	2	0	ANKFN1	51805195	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.339000	0.96797	2.153000	0.67306	0.460000	0.39030	CAT		0.433	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228	
CYB561	1534	broad.mit.edu	37	17	61514742	61514742	+	Missense_Mutation	SNP	C	C	A			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr17:61514742C>A	ENST00000392976.1	-	2	466	c.167G>T	c.(166-168)tGc>tTc	p.C56F	CYB561_ENST00000448884.2_Missense_Mutation_p.C56F|CYB561_ENST00000581163.1_5'Flank|CYB561_ENST00000582034.1_Missense_Mutation_p.C27F|CYB561_ENST00000360793.3_Missense_Mutation_p.C56F|CYB561_ENST00000392975.2_Missense_Mutation_p.C56F|CYB561_ENST00000582997.1_Missense_Mutation_p.C63F|CYB561_ENST00000542042.1_Missense_Mutation_p.C123F|CYB561_ENST00000581573.1_Missense_Mutation_p.C56F|CYB561_ENST00000584031.1_Missense_Mutation_p.C56F|CYB561_ENST00000582297.1_Missense_Mutation_p.C56F	NM_001017916.1	NP_001017916.1	P49447	CY561_HUMAN	cytochrome b561	56	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				electron transport chain (GO:0022900)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|transmembrane electron transfer carrier (GO:0022865)			lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		TATGACCATGCAGAGGGGGTG	0.647																																						uc002jap.2																			0				ovary(1)	1						c.(166-168)TGC>TTC		cytochrome b-561							77.0	76.0	76.0					17																	61514742		2203	4300	6503	SO:0001583	missense	1534				electron transport chain|transport	integral to plasma membrane	cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding	g.chr17:61514742C>A		CCDS11636.1	17q23.3	2013-03-14	2013-03-14		ENSG00000008283	ENSG00000008283		"""Cytochrome b genes"""	2571	protein-coding gene	gene with protein product	"""ferric-chelate reductase 2"", ""cytochrome b561 family, member A1"""	600019				7959749, 23249217	Standard	XM_005257091		Approved	FRRS2, CYB561A1	uc002jas.3	P49447		ENST00000392976.1:c.167G>T	17.37:g.61514742C>A	ENSP00000376702:p.Cys56Phe					CYB561_uc002jaq.2_Missense_Mutation_p.C102F|CYB561_uc002jar.2_Missense_Mutation_p.C56F|CYB561_uc002jas.2_Missense_Mutation_p.C56F|CYB561_uc010ddt.2_Missense_Mutation_p.C56F|CYB561_uc002jat.2_Missense_Mutation_p.C56F|CYB561_uc010wpf.1_Missense_Mutation_p.C56F|CYB561_uc010wpg.1_Missense_Mutation_p.C27F	p.C56F	NM_001915	NP_001906	P49447	CY561_HUMAN		READ - Rectum adenocarcinoma(1115;0.0689)	1	569	-			56			Helical; (Potential).|Cytochrome b561.		B2RE96|B7Z775|D3DU11|Q5BJG9|Q9BU05|Q9BWR9	Missense_Mutation	SNP	ENST00000392976.1	37	c.167G>T	CCDS11636.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.435982	0.43224	.	.	ENSG00000008283	ENST00000360793;ENST00000392976;ENST00000392975;ENST00000448884;ENST00000542042	T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16	4.33	4.33	0.51752	Cytochrome b561, eukaryote (1);Cytochrome b561/ferric reductase transmembrane (2);	0.000000	0.85682	D	0.000000	T	0.44498	0.1296	L	0.27053	0.805	0.80722	D	1	P;D;P;P	0.76494	0.465;0.999;0.782;0.465	B;D;B;B	0.75020	0.115;0.985;0.223;0.115	T	0.20605	-1.0270	10	0.20046	T	0.44	-40.3047	16.0034	0.80327	0.0:1.0:0.0:0.0	.	56;56;123;56	B7Z775;B3KTA1;F5H757;P49447	.;.;.;CY561_HUMAN	F	56;56;56;56;123	ENSP00000354028:C56F;ENSP00000376702:C56F;ENSP00000376701:C56F;ENSP00000400350:C56F;ENSP00000442773:C123F	ENSP00000354028:C56F	C	-	2	0	CYB561	58868474	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	5.474000	0.66781	2.254000	0.74563	0.561000	0.74099	TGC		0.647	CYB561-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444843.1	NM_001915	
CEP95	90799	broad.mit.edu	37	17	62532771	62532771	+	Nonsense_Mutation	SNP	C	C	T			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr17:62532771C>T	ENST00000556440.2	+	18	2632	c.2122C>T	c.(2122-2124)Cga>Tga	p.R708*	CEP95_ENST00000553412.1_Nonsense_Mutation_p.R544*	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	708						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						GCAAAGATTACGAGACCTAAG	0.373																																						uc002jem.2																			0					0						c.(2122-2124)CGA>TGA		coiled-coil domain containing 45							79.0	81.0	81.0					17																	62532771		1902	4120	6022	SO:0001587	stop_gained	90799					centrosome|spindle pole	protein binding	g.chr17:62532771C>T	AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"""coiled-coil domain containing 45"""	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.2122C>T	17.37:g.62532771C>T	ENSP00000450461:p.Arg708*					CCDC45_uc002jen.2_RNA|CCDC45_uc010wqb.1_Nonsense_Mutation_p.R544*	p.R708*	NM_138363	NP_612372	Q96GE4	CEP95_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		18	2180	+	Breast(5;1.32e-14)		708			Potential.		B4DMD2|Q96M81	Nonsense_Mutation	SNP	ENST00000556440.2	37	c.2122C>T	CCDS45763.1	.	.	.	.	.	.	.	.	.	.	C	44	10.918061	0.99489	.	.	ENSG00000258890	ENST00000553956;ENST00000556440;ENST00000553412	.	.	.	5.48	4.49	0.54785	.	0.209781	0.37530	N	0.002041	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.1012	14.4045	0.67073	0.282:0.718:0.0:0.0	.	.	.	.	X	643;708;544	.	ENSP00000438458:R643X	R	+	1	2	CEP95	59963233	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	1.909000	0.39917	1.402000	0.46780	0.650000	0.86243	CGA		0.373	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2	NM_138363	
LMAN1	3998	broad.mit.edu	37	18	57013193	57013194	+	Frame_Shift_Ins	INS	-	-	T	rs553350987		TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr18:57013193_57013194insT	ENST00000251047.5	-	8	1629_1630	c.912_913insA	c.(910-915)aaagagfs	p.E305fs	LMAN1_ENST00000587940.1_5'Flank	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	305					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TGGAATTCCTCTTTTTTTTTAT	0.455																																						uc002lhz.2																			0				skin(1)	1	GRCh37	CI992039	LMAN1	I		c.(910-915)AAAGAGfs		lectin, mannose-binding, 1 precursor	Antihemophilic Factor(DB00025)			1,4263		0,1,2131						5.7	1.0			139	0,8254		0,0,4127	no	frameshift	LMAN1	NM_005570.3		0,1,6258	A1A1,A1R,RR		0.0,0.0235,0.0080				1,12517				SO:0001589	frameshift_variant	3998				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding	g.chr18:57013193_57013194insT	X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"""endoplasmic reticulum-golgi intermediate compartment protein 53"""	601567	"""coagulation factor V-factor VIII combined deficiency"""	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.913dupA	18.37:g.57013202_57013202dupT	ENSP00000251047:p.Glu305fs						p.K304fs	NM_005570	NP_005561	P49257	LMAN1_HUMAN			8	944_945	-		Colorectal(73;0.0946)	304_305			Lumenal (Potential).		Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Frame_Shift_Ins	INS	ENST00000251047.5	37	c.912_913insA	CCDS11974.1																																																																																				0.455	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256129.2	NM_005570	
FPR2	2358	broad.mit.edu	37	19	52272612	52272612	+	Missense_Mutation	SNP	T	T	C			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr19:52272612T>C	ENST00000598776.1	+	2	1473	c.701T>C	c.(700-702)aTt>aCt	p.I234T	FPR2_ENST00000598953.1_Missense_Mutation_p.I234T|FPR2_ENST00000340023.6_Missense_Mutation_p.I234T	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	234					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						AAGGGCATGATTAAATCCAGC	0.507																																						uc002pxr.2																			0				lung(3)|ovary(1)	4						c.(700-702)ATT>ACT		formyl peptide receptor-like 1							167.0	133.0	144.0					19																	52272612		2203	4300	6503	SO:0001583	missense	2358				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52272612T>C	M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"""GPCR / Class A : Formyl peptide receptors"", ""GPCR / Class A : Leukotriene receptors"""	3827	protein-coding gene	gene with protein product		136538	"""formyl peptide receptor-like 1"""	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.701T>C	19.37:g.52272612T>C	ENSP00000468897:p.Ile234Thr					FPR2_uc002pxs.3_Missense_Mutation_p.I234T|FPR2_uc010epf.2_Missense_Mutation_p.I234T	p.I234T	NM_001005738	NP_001005738	P25090	FPR2_HUMAN			2	746	+			234			Cytoplasmic (Potential).		A8K3E2	Missense_Mutation	SNP	ENST00000598776.1	37	c.701T>C	CCDS12840.1	.	.	.	.	.	.	.	.	.	.	.	7.821	0.717825	0.15372	.	.	ENSG00000171049	ENST00000340023	T	0.36520	1.25	3.8	3.8	0.43715	GPCR, rhodopsin-like superfamily (1);	0.821486	0.10860	U	0.626223	T	0.21718	0.0523	N	0.16790	0.44	0.09310	N	0.999997	B	0.10296	0.003	B	0.15870	0.014	T	0.09907	-1.0653	10	0.38643	T	0.18	.	5.8908	0.18911	0.0:0.1205:0.0:0.8795	.	234	P25090	FPR2_HUMAN	T	234	ENSP00000340191:I234T	ENSP00000340191:I234T	I	+	2	0	FPR2	56964424	0.917000	0.31117	0.017000	0.16124	0.768000	0.43524	2.456000	0.44997	1.741000	0.51731	0.402000	0.26972	ATT		0.507	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738	
LILRA4	23547	broad.mit.edu	37	19	54848923	54848923	+	Missense_Mutation	SNP	C	C	T			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr19:54848923C>T	ENST00000291759.4	-	5	756	c.700G>A	c.(700-702)Gtg>Atg	p.V234M	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	234	Ig-like C2-type 3.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CCGGGGGTCACGACAGGGCCC	0.647																																						uc002qfj.2																			0				upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(700-702)GTG>ATG		leukocyte immunoglobulin-like receptor subfamily							28.0	32.0	31.0					19																	54848923		2203	4300	6503	SO:0001583	missense	23547					integral to membrane	receptor activity	g.chr19:54848923C>T	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.700G>A	19.37:g.54848923C>T	ENSP00000291759:p.Val234Met					LILRA4_uc002qfi.2_Missense_Mutation_p.V168M	p.V234M	NM_012276	NP_036408	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	5	757	-	Ovarian(34;0.19)		234			Extracellular (Potential).|Ig-like C2-type 3.		Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	c.700G>A	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	11.98	1.800035	0.31869	.	.	ENSG00000239961	ENST00000291759	T	0.16597	2.33	2.51	-2.69	0.06022	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.065890	0.02501	N	0.090469	T	0.39410	0.1077	M	0.92412	3.305	0.09310	N	1	D	0.60575	0.988	P	0.54026	0.74	T	0.46261	-0.9204	10	0.51188	T	0.08	.	4.8204	0.13387	0.0:0.3067:0.5114:0.1819	.	234	P59901	LIRA4_HUMAN	M	234	ENSP00000291759:V234M	ENSP00000291759:V234M	V	-	1	0	LILRA4	59540735	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.093000	0.11111	-0.373000	0.07979	-0.519000	0.04390	GTG		0.647	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276	
LAIR1	3903	broad.mit.edu	37	19	54872745	54872745	+	Missense_Mutation	SNP	C	C	T	rs201618231		TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr19:54872745C>T	ENST00000391742.2	-	3	294	c.142G>A	c.(142-144)Gtg>Atg	p.V48M	LAIR1_ENST00000434277.2_Missense_Mutation_p.V47M|LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000391743.3_Missense_Mutation_p.V30M|LAIR1_ENST00000313038.6_Missense_Mutation_p.V41M|LAIR1_ENST00000474878.1_Missense_Mutation_p.V47M|LAIR1_ENST00000348231.4_Missense_Mutation_p.V48M			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	48	Ig-like C2-type.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V48L(1)|p.V48M(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		CCCCGGCACACGAAAGTCACA	0.567																																						uc002qfk.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(4)	4						c.(142-144)GTG>ATG		leukocyte-associated immunoglobulin-like							103.0	109.0	107.0					19																	54872745		2203	4300	6503	SO:0001583	missense	3903					integral to membrane|plasma membrane	protein binding|receptor activity	g.chr19:54872745C>T	AF013249	CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167613	ENSG00000167613		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6477	protein-coding gene	gene with protein product		602992	"""leukocyte-associated Ig-like receptor 1"""			9285412	Standard	XM_005258924		Approved	CD305	uc002qfk.1	Q6GTX8	OTTHUMG00000065545	ENST00000391742.2:c.142G>A	19.37:g.54872745C>T	ENSP00000375622:p.Val48Met					LAIR1_uc002qfl.1_Missense_Mutation_p.V48M|LAIR1_uc002qfm.1_Missense_Mutation_p.V47M|LAIR1_uc002qfn.1_Missense_Mutation_p.V47M|LAIR1_uc010yex.1_Missense_Mutation_p.V41M|LAIR1_uc002qfo.2_Missense_Mutation_p.V30M	p.V48M	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0573)	3	452	-	Ovarian(34;0.19)		48			Extracellular (Potential).|Ig-like C2-type.			Missense_Mutation	SNP	ENST00000391742.2	37	c.142G>A	CCDS12891.1	.	.	.	.	.	.	.	.	.	.	.	10.59	1.393677	0.25205	.	.	ENSG00000167613	ENST00000391743;ENST00000391742;ENST00000434277;ENST00000348231;ENST00000313038;ENST00000474878;ENST00000438193	T;T;T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66;2.66;5.75	3.16	0.837	0.18896	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.189750	0.25961	N	0.027198	T	0.23926	0.0579	L	0.53671	1.685	0.19945	N	0.999947	P;D;P;P;D;P	0.89917	0.887;0.985;0.942;0.839;1.0;0.953	B;P;P;B;D;P	0.69307	0.396;0.69;0.462;0.426;0.963;0.597	T	0.02797	-1.1109	10	0.59425	D	0.04	.	5.5759	0.17222	0.2297:0.5472:0.2231:0.0	.	48;30;47;47;48;48	Q6GTX8-4;A8MZ84;Q6GTX8-3;D3YTC8;Q6GTX8-2;Q6GTX8	.;.;.;.;.;LAIR1_HUMAN	M	30;48;47;48;41;47;42	ENSP00000375623:V30M;ENSP00000375622:V48M;ENSP00000391003:V47M;ENSP00000301193:V48M;ENSP00000319204:V41M;ENSP00000418998:V47M;ENSP00000392058:V42M	ENSP00000319204:V41M	V	-	1	0	LAIR1	59564557	0.188000	0.23250	0.516000	0.27786	0.033000	0.12548	0.210000	0.17455	0.317000	0.23160	0.580000	0.79431	GTG		0.567	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140506.1		
SOS1	6654	broad.mit.edu	37	2	39234297	39234297	+	Missense_Mutation	SNP	C	C	A			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr2:39234297C>A	ENST00000426016.1	-	17	2634	c.2548G>T	c.(2548-2550)Gct>Tct	p.A850S	SOS1_ENST00000395038.2_Missense_Mutation_p.A850S|SOS1_ENST00000402219.2_Missense_Mutation_p.A850S			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	850	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CTCACCACAGCTACTCTTTCT	0.323									Noonan syndrome																													uc002rrk.3																			0				ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10						c.(2548-2550)GCT>TCT		son of sevenless homolog 1							124.0	130.0	128.0					2																	39234297		2203	4300	6503	SO:0001583	missense	6654	Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39234297C>A	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.2548G>T	2.37:g.39234297C>A	ENSP00000387784:p.Ala850Ser					SOS1_uc002rrj.3_Missense_Mutation_p.A464S	p.A850S	NM_005633	NP_005624	Q07889	SOS1_HUMAN			16	2589	-		all_hematologic(82;0.21)	850			Ras-GEF.		A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.2548G>T	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351419	0.61183	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	T;T;T	0.29397	1.57;1.57;1.57	5.65	5.65	0.86999	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.176855	0.49305	D	0.000155	T	0.31009	0.0783	L	0.37466	1.105	0.80722	D	1	B	0.12013	0.005	B	0.33799	0.17	T	0.08086	-1.0739	10	0.48119	T	0.1	.	13.4095	0.60933	0.0:0.9188:0.0:0.0812	.	850	Q07889	SOS1_HUMAN	S	850;850;582;850;850	ENSP00000387784:A850S;ENSP00000384675:A850S;ENSP00000378479:A850S	ENSP00000263879:A850S	A	-	1	0	SOS1	39087801	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.773000	0.62331	2.660000	0.90430	0.603000	0.83216	GCT		0.323	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633	
IL1RL2	8808	broad.mit.edu	37	2	102805705	102805705	+	Silent	SNP	C	C	T			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr2:102805705C>T	ENST00000264257.2	+	3	354	c.228C>T	c.(226-228)gaC>gaT	p.D76D	IL1RL2_ENST00000441515.2_Intron|IL1RL2_ENST00000539491.1_Silent_p.D76D|IL1RL2_ENST00000481806.1_Intron	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	76	Ig-like C2-type 1.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TTCACCAGGACGAGACTTGGA	0.398																																						uc002tbs.2																			0				ovary(2)	2						c.(226-228)GAC>GAT		interleukin 1 receptor-like 2 precursor							70.0	68.0	69.0					2																	102805705		2203	4300	6503	SO:0001819	synonymous_variant	8808				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	g.chr2:102805705C>T	U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.228C>T	2.37:g.102805705C>T						IL1RL2_uc002tbt.2_Intron	p.D76D	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN			3	354	+			76			Extracellular (Potential).|Ig-like C2-type 1.		A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Silent	SNP	ENST00000264257.2	37	c.228C>T	CCDS2056.1																																																																																				0.398	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854	
PLEKHM3	389072	broad.mit.edu	37	2	208842070	208842070	+	Missense_Mutation	SNP	G	G	C			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr2:208842070G>C	ENST00000427836.2	-	3	1340	c.851C>G	c.(850-852)aCt>aGt	p.T284S	PLEKHM3_ENST00000457206.1_Missense_Mutation_p.T284S|PLEKHM3_ENST00000389247.4_Missense_Mutation_p.T284S	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	284	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGTAGCTGAGTGTTGTCATA	0.512																																						uc002vcl.2																			0				ovary(1)	1						c.(850-852)ACT>AGT		pleckstrin homology domain containing, family M,							125.0	123.0	124.0					2																	208842070		2049	4202	6251	SO:0001583	missense	389072				intracellular signal transduction		metal ion binding	g.chr2:208842070G>C	AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"""Pleckstrin homology (PH) domain containing"""	34006	protein-coding gene	gene with protein product	"""differentiation associated protein"""		"""pleckstrin homology domain containing, family M, member 1-like"""	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.851C>G	2.37:g.208842070G>C	ENSP00000417003:p.Thr284Ser					PLEKHM3_uc002vcm.2_Missense_Mutation_p.T284S	p.T284S	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN			3	1341	-			284			PH 1.		B9EKV2|Q8WW68	Missense_Mutation	SNP	ENST00000427836.2	37	c.851C>G	CCDS42808.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.242|6.242	0.412718|0.412718	0.11812|0.11812	.|.	.|.	ENSG00000178385|ENSG00000178385	ENST00000447645|ENST00000427836;ENST00000389247;ENST00000457206	.|T;T;T	.|0.29142	.|1.58;1.58;1.58	5.96|5.96	5.09|5.09	0.68999|0.68999	.|Pleckstrin homology-type (1);Pleckstrin homology domain (1);	.|0.380706	.|0.29239	.|N	.|0.012723	T|T	0.17662|0.17662	0.0424|0.0424	N|N	0.11560|0.11560	0.145|0.145	0.24069|0.24069	N|N	0.995986|0.995986	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.08055	.|0.003;0.0	T|T	0.12344|0.12344	-1.0551|-1.0551	5|10	.|0.14252	.|T	.|0.57	.|.	15.7252|15.7252	0.77751|0.77751	0.0:0.2579:0.742:0.0|0.0:0.2579:0.742:0.0	.|.	.|284;284	.|C9J119;Q6ZWE6	.|.;PKHM3_HUMAN	Q|S	35|284	.|ENSP00000417003:T284S;ENSP00000373899:T284S;ENSP00000400150:T284S	.|ENSP00000373899:T284S	H|T	-|-	3|2	2|0	PLEKHM3|PLEKHM3	208550315|208550315	1.000000|1.000000	0.71417|0.71417	0.870000|0.870000	0.34147|0.34147	0.670000|0.670000	0.39368|0.39368	4.283000|4.283000	0.58977|0.58977	1.541000|1.541000	0.49316|0.49316	-0.127000|-0.127000	0.14921|0.14921	CAC|ACT		0.512	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	NM_001080475	
SIGLEC1	6614	broad.mit.edu	37	20	3682241	3682241	+	Missense_Mutation	SNP	C	C	T			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr20:3682241C>T	ENST00000344754.4	-	6	1275	c.1276G>A	c.(1276-1278)Gga>Aga	p.G426R	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.G426R	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	426	Ig-like C2-type 4.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CCCACAAGTCCCGCCTGGGTC	0.632																																						uc002wja.2																			0				pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						c.(1276-1278)GGA>AGA		sialoadhesin precursor							53.0	47.0	49.0					20																	3682241		2203	4300	6503	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3682241C>T	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.1276G>A	20.37:g.3682241C>T	ENSP00000341141:p.Gly426Arg					SIGLEC1_uc002wiz.3_Missense_Mutation_p.G426R	p.G426R	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN			6	1276	-			426			Ig-like C2-type 4.|Extracellular (Potential).		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.1276G>A	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341188	0.41498	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.81330	-1.48;-1.48	5.68	3.75	0.43078	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.354305	0.20778	N	0.085851	D	0.84723	0.5535	M	0.89287	3.02	0.18873	N	0.999981	B;B	0.30664	0.289;0.245	B;B	0.40477	0.33;0.222	T	0.78201	-0.2296	10	0.49607	T	0.09	.	9.4938	0.38976	0.0:0.8313:0.0:0.1687	.	426;426	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	R	426	ENSP00000341141:G426R;ENSP00000202578:G426R	ENSP00000202578:G426R	G	-	1	0	SIGLEC1	3630241	0.030000	0.19436	0.018000	0.16275	0.506000	0.33950	2.342000	0.43992	1.401000	0.46761	0.650000	0.86243	GGA		0.632	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068	
DNAJC28	54943	broad.mit.edu	37	21	34861310	34861310	+	Missense_Mutation	SNP	G	G	A			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr21:34861310G>A	ENST00000314399.3	-	2	829	c.391C>T	c.(391-393)Ccc>Tcc	p.P131S	DNAJC28_ENST00000381947.3_Missense_Mutation_p.P131S|DNAJC28_ENST00000402202.1_Missense_Mutation_p.P131S	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	131										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						CGGTGTTGGGGTGTTTTATAT	0.393																																						uc002yrv.2																			0					0						c.(391-393)CCC>TCC		DnaJ (Hsp40) homolog, subfamily C, member 28							118.0	102.0	107.0					21																	34861310		2203	4300	6503	SO:0001583	missense	54943						heat shock protein binding	g.chr21:34861310G>A	AK000468	CCDS13626.1	21q22.11	2011-09-02	2008-06-17	2008-06-17	ENSG00000177692	ENSG00000177692		"""Heat shock proteins / DNAJ (HSP40)"""	1297	protein-coding gene	gene with protein product	"""Orf28"""		"""chromosome 21 open reading frame 55"""	C21orf55			Standard	NM_017833		Approved	C21orf78	uc002yrw.3	Q9NX36	OTTHUMG00000065531	ENST00000314399.3:c.391C>T	21.37:g.34861310G>A	ENSP00000320303:p.Pro131Ser					DNAJC28_uc002yrw.2_Missense_Mutation_p.P131S	p.P131S	NM_017833	NP_060303	Q9NX36	DJC28_HUMAN			2	840	-			131					D3DSF2	Missense_Mutation	SNP	ENST00000314399.3	37	c.391C>T	CCDS13626.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881340	0.72294	.	.	ENSG00000177692	ENST00000381947;ENST00000314399;ENST00000402202	D;D;D	0.86230	-2.09;-2.09;-2.09	5.38	5.38	0.77491	.	0.111909	0.64402	D	0.000008	D	0.94056	0.8095	M	0.87758	2.905	0.50039	D	0.999843	D	0.89917	1.0	D	0.69307	0.963	D	0.94202	0.7451	10	0.51188	T	0.08	-8.803	17.9044	0.88914	0.0:0.0:1.0:0.0	.	131	Q9NX36	DJC28_HUMAN	S	131	ENSP00000371373:P131S;ENSP00000320303:P131S;ENSP00000385777:P131S	ENSP00000320303:P131S	P	-	1	0	DNAJC28	33783180	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.347000	0.79356	2.530000	0.85305	0.655000	0.94253	CCC		0.393	DNAJC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140454.3		
CNTN6	27255	broad.mit.edu	37	3	1424680	1424680	+	Missense_Mutation	SNP	C	C	T			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr3:1424680C>T	ENST00000446702.2	+	18	2848	c.2221C>T	c.(2221-2223)Cgg>Tgg	p.R741W	CNTN6_ENST00000350110.2_Missense_Mutation_p.R741W|CNTN6_ENST00000539053.1_Missense_Mutation_p.R669W			Q9UQ52	CNTN6_HUMAN	contactin 6	741	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CATCATGTTCCGGCCAGTGGG	0.433																																						uc003boz.2																			0				skin(3)|lung(2)|breast(2)|pancreas(1)	8						c.(2221-2223)CGG>TGG		contactin 6 precursor							122.0	114.0	117.0					3																	1424680		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1424680C>T	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2221C>T	3.37:g.1424680C>T	ENSP00000407822:p.Arg741Trp					CNTN6_uc011asj.1_Missense_Mutation_p.R669W|CNTN6_uc003bpa.2_Missense_Mutation_p.R741W	p.R741W	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	18	2488	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	741			Fibronectin type-III 2.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.2221C>T	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.681483	0.88542	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.56941	0.43;0.43;0.43	6.08	6.08	0.98989	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000032	T	0.80303	0.4598	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.83064	-0.0146	10	0.87932	D	0	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	741	Q9UQ52	CNTN6_HUMAN	W	741;669;741	ENSP00000407822:R741W;ENSP00000442791:R669W;ENSP00000341882:R741W	ENSP00000341882:R741W	R	+	1	2	CNTN6	1399680	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	3.544000	0.53640	2.894000	0.99253	0.655000	0.94253	CGG		0.433	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461	
FRAS1	80144	broad.mit.edu	37	4	79400817	79400817	+	Silent	SNP	C	C	T	rs376748689		TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr4:79400817C>T	ENST00000264895.6	+	56	8828	c.8388C>T	c.(8386-8388)aaC>aaT	p.N2796N		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2792	Calx-beta 3.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTGGTCCCAACGATGCCTCGA	0.532																																						uc003hlb.2																			0				large_intestine(5)	5						c.(8386-8388)AAC>AAT		Fraser syndrome 1		C		0,4178		0,0,2089	78.0	84.0	82.0		8388	-5.0	1.0	4		82	1,8423		0,1,4211	no	coding-synonymous	FRAS1	NM_025074.6		0,1,6300	TT,TC,CC		0.0119,0.0,0.0079		2796/4013	79400817	1,12601	2089	4212	6301	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79400817C>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.8388C>T	4.37:g.79400817C>T							p.N2796N	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			56	8828	+			2791			Calx-beta 3.|Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	c.8388C>T	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	C	0.050	-1.253978	0.01457	0.0	1.19E-4	ENSG00000138759	ENST00000512123	.	.	.	5.72	-4.98	0.03019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0293	0.80567	0.0:0.5727:0.0:0.4273	.	.	.	.	X	1025	.	.	R	+	1	2	FRAS1	79619841	0.036000	0.19791	0.965000	0.40720	0.049000	0.14656	-0.695000	0.05109	-0.763000	0.04658	-0.824000	0.03097	CGA		0.532	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
SLC10A6	345274	broad.mit.edu	37	4	87749309	87749309	+	Missense_Mutation	SNP	C	C	T			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr4:87749309C>T	ENST00000273905.6	-	4	745	c.598G>A	c.(598-600)Gtt>Att	p.V200I	SLC10A6_ENST00000505535.1_Intron	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	200					sodium-dependent organic anion transport (GO:0043251)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)|sodium-dependent organic anion transmembrane transporter activity (GO:0043250)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		ACCCCACCAACAACGGCCCCA	0.443																																						uc003hqd.2																			0					0						c.(598-600)GTT>ATT		sodium-dependent organic anion transporter							65.0	67.0	66.0					4																	87749309		2203	4300	6503	SO:0001583	missense	345274					integral to membrane|plasma membrane	bile acid:sodium symporter activity	g.chr4:87749309C>T	AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283		"""Solute carriers"""	30603	protein-coding gene	gene with protein product		613366				15020217, 17491011	Standard	NM_197965		Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.598G>A	4.37:g.87749309C>T	ENSP00000273905:p.Val200Ile						p.V200I	NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00099)	4	746	-		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	200			Helical; (Potential).		Q70EX7	Missense_Mutation	SNP	ENST00000273905.6	37	c.598G>A	CCDS3614.1	.	.	.	.	.	.	.	.	.	.	C	7.237	0.600509	0.13939	.	.	ENSG00000145283	ENST00000273905	T	0.10288	2.89	5.28	2.63	0.31362	.	0.861271	0.10057	N	0.721369	T	0.04452	0.0122	N	0.04335	-0.225	0.09310	N	1	B	0.28178	0.202	B	0.30029	0.11	T	0.46803	-0.9165	10	0.11182	T	0.66	.	4.8138	0.13356	0.0:0.5924:0.1561:0.2515	.	200	Q3KNW5	SOAT_HUMAN	I	200	ENSP00000273905:V200I	ENSP00000273905:V200I	V	-	1	0	SLC10A6	87968333	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	0.538000	0.23160	0.363000	0.24346	0.655000	0.94253	GTT		0.443	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253043.2	NM_197965	
RAMP3	10268	broad.mit.edu	37	7	45216936	45216936	+	Silent	SNP	C	C	T	rs145890722	byFrequency	TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr7:45216936C>T	ENST00000242249.4	+	2	125	c.87C>T	c.(85-87)aaC>aaT	p.N29N	RAMP3_ENST00000496212.1_Silent_p.N29N|RAMP3_ENST00000481345.1_Silent_p.N29N	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	29					calcium ion transport (GO:0006816)|cellular response to estradiol stimulus (GO:0071392)|G-protein coupled receptor signaling pathway involved in heart process (GO:0086103)|intracellular protein transport (GO:0006886)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of receptor recycling (GO:0001921)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	GCGGCTGCAACGAGACAGGCA	0.597													C|||	8	0.00159744	0.0061	0.0	5008	,	,		19167	0.0		0.0	False		,,,				2504	0.0					uc003tnb.2																			0					0						c.(85-87)AAC>AAT		receptor activity modifying protein 3 precursor	Pramlintide(DB01278)	C		21,4385	28.1+/-56.4	0,21,2182	134.0	110.0	118.0		87	-5.4	0.7	7	dbSNP_134	118	0,8600		0,0,4300	no	coding-synonymous	RAMP3	NM_005856.2		0,21,6482	TT,TC,CC		0.0,0.4766,0.1615		29/149	45216936	21,12985	2203	4300	6503	SO:0001819	synonymous_variant	10268				intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity	g.chr7:45216936C>T	AJ001016	CCDS5503.1	7p13-p12	2006-11-21	2006-11-21		ENSG00000122679	ENSG00000122679		"""Receptor (G protein-coupled) activity modifying proteins"""	9845	protein-coding gene	gene with protein product		605155	"""receptor activity modifying protein 3"", ""receptor (calcitonin) activity modifying protein 3"""				Standard	NM_005856		Approved		uc003tnb.3	O60896	OTTHUMG00000023729	ENST00000242249.4:c.87C>T	7.37:g.45216936C>T						RAMP3_uc003tnc.2_Translation_Start_Site	p.N29N	NM_005856	NP_005847	O60896	RAMP3_HUMAN			2	148	+			29			Extracellular (Potential).		Q7Z2Y1	Silent	SNP	ENST00000242249.4	37	c.87C>T	CCDS5503.1																																																																																				0.597	RAMP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251343.1	NM_005856	
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		23	Substitution - Missense(23)	p.A289V(20)|p.V30_R297>G(5)|p.A289D(3)|p.A289T(3)	central_nervous_system(23)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(865-867)GCC>GTC		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						178.0	142.0	154.0					7																	55221822		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221822C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.866C>T	7.37:g.55221822C>T	ENSP00000275493:p.Ala289Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.2_Missense_Mutation_p.A289V|EGFR_uc003tqi.2_Missense_Mutation_p.A289V|EGFR_uc003tqj.2_Missense_Mutation_p.A289V|EGFR_uc010kzg.1_Missense_Mutation_p.A244V|EGFR_uc011kco.1_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.A289V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1112	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.866C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	36	5.765054	0.96906	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.83695	0.5310	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.998;1.0;1.0;1.0	P;D;D;D;D	0.77004	0.877;0.989;0.98;0.989;0.941	D	0.86120	0.1568	10	0.87932	D	0	.	18.9232	0.92534	0.0:1.0:0.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	V	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244V;ENSP00000342376:A289V;ENSP00000345973:A289V;ENSP00000413843:A289V;ENSP00000275493:A289V;ENSP00000410031:A289V;ENSP00000395243:A236V	ENSP00000275493:A289V	A	+	2	0	EGFR	55189316	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.794000	0.85869	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
DTX2	113878	broad.mit.edu	37	7	76112453	76112453	+	Silent	SNP	C	C	T			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr7:76112453C>T	ENST00000324432.5	+	5	1407	c.897C>T	c.(895-897)tcC>tcT	p.S299S	DTX2_ENST00000307569.8_Silent_p.S299S|DTX2_ENST00000446820.2_Silent_p.S299S|DTX2_ENST00000430490.2_Silent_p.S299S|DTX2_ENST00000413936.2_Silent_p.S299S|DTX2_ENST00000446600.1_Silent_p.S208S	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	299					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						CCTCCACCTCCGGTGCAGTCA	0.662																																						uc003uff.3																			0				ovary(1)|skin(1)	2						c.(895-897)TCC>TCT		deltex 2 isoform a							21.0	23.0	22.0					7																	76112453		2182	4244	6426	SO:0001819	synonymous_variant	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76112453C>T		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.897C>T	7.37:g.76112453C>T						DTX2_uc011kgk.1_Silent_p.S208S|DTX2_uc003ufg.3_Silent_p.S299S|DTX2_uc003ufh.3_Silent_p.S299S|DTX2_uc003ufj.3_Silent_p.S299S	p.S299S	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN			5	1453	+			299					Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Silent	SNP	ENST00000324432.5	37	c.897C>T	CCDS5587.1																																																																																				0.662	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2		
PCLO	27445	broad.mit.edu	37	7	82784468	82784468	+	Missense_Mutation	SNP	C	C	T	rs201660744	byFrequency	TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr7:82784468C>T	ENST00000333891.9	-	2	1826	c.1489G>A	c.(1489-1491)Gca>Aca	p.A497T	PCLO_ENST00000423517.2_Missense_Mutation_p.A497T	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGGGGCTTTGCTGAGCCAGGC	0.612													C|||	4	0.000798722	0.0023	0.0014	5008	,	,		12144	0.0		0.0	False		,,,				2504	0.0					uc003uhx.2																			0				ovary(7)	7						c.(1489-1491)GCA>ACA		piccolo isoform 1							92.0	100.0	97.0					7																	82784468		1946	4135	6081	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82784468C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.1489G>A	7.37:g.82784468C>T	ENSP00000334319:p.Ala497Thr					PCLO_uc003uhv.2_Missense_Mutation_p.A497T	p.A497T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			2	1778	-			443	A -> T (in Ref. 4; CAB60727).		Gln-rich.|Pro-rich.|10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.			Missense_Mutation	SNP	ENST00000333891.9	37	c.1489G>A	CCDS47630.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.192|7.192	0.591653|0.591653	0.13812|0.13812	.|.	.|.	ENSG00000186472|ENSG00000186472	ENST00000431819|ENST00000333891;ENST00000423517	.|T;T	.|0.16324	.|2.35;2.36	4.64|4.64	1.63|1.63	0.23807|0.23807	.|.	.|.	.|.	.|.	.|.	.|T	.|0.10121	.|0.0248	N|N	0.16656|0.16656	0.425|0.425	0.22639|0.22639	N|N	0.998905|0.998905	.|B;B	.|0.23806	.|0.091;0.091	.|B;B	.|0.22386	.|0.039;0.039	.|T	.|0.29181	.|-1.0020	.|9	.|0.87932	.|D	.|0	.|.	5.9415|5.9415	0.19196|0.19196	0.2522:0.5969:0.0:0.1508|0.2522:0.5969:0.0:0.1508	.|.	.|497;497	.|Q9Y6V0-5;Q9Y6V0-6	.|.;.	.|T	-1|497	.|ENSP00000334319:A497T;ENSP00000388393:A497T	.|ENSP00000334319:A497T	.|A	-|-	.|1	.|0	PCLO|PCLO	82622404|82622404	0.000000|0.000000	0.05858|0.05858	0.028000|0.028000	0.17463|0.17463	0.096000|0.096000	0.18686|0.18686	-0.716000|-0.716000	0.04991|0.04991	0.508000|0.508000	0.28173|0.28173	-0.224000|-0.224000	0.12420|0.12420	.|GCA		0.612	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
PRSS3P1	168330	broad.mit.edu	37	7	142468304	142468305	+	IGR	INS	-	-	TA			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr7:142468304_142468305insTA								PRSS1 (7383 upstream) : PRSS3P2 (10534 downstream)																							GGAGCTGCTGGCGAGTTTCATG	0.54																																						uc011kso.1																			0					0						c.e1+1		Homo sapiens protease, serine, 2 (trypsin 2), mRNA (cDNA clone IMAGE:3928526), partial cds.																																				SO:0001628	intergenic_variant	154754							g.chr7:142468304_142468305insTA																													7.37:g.142468304_142468305insTA						uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|uc003wan.1_Intron|uc011ksp.1_5'Flank								1		+									Splice_Site	INS		37	c.46_splice																																																																																				0	0.540								
OR2A2	442361	broad.mit.edu	37	7	143807297	143807297	+	Missense_Mutation	SNP	G	G	A	rs374016349		TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr7:143807297G>A	ENST00000408979.2	+	1	691	c.622G>A	c.(622-624)Ggg>Agg	p.G208R		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TGTCTTAGTCGGGCCTCTTTC	0.522																																						uc011ktz.1																			0				skin(2)	2						c.(622-624)GGG>AGG		olfactory receptor, family 2, subfamily A,		G	ARG/GLY	0,3986		0,0,1993	132.0	138.0	136.0		622	2.6	0.0	7		136	1,8363		0,1,4181	no	missense	OR2A2	NM_001005480.2	125	0,1,6174	AA,AG,GG		0.012,0.0,0.0081	probably-damaging	208/319	143807297	1,12349	1993	4182	6175	SO:0001583	missense	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143807297G>A		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"""GPCR / Class A : Olfactory receptors"""	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.622G>A	7.37:g.143807297G>A	ENSP00000386209:p.Gly208Arg						p.G208R	NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN			1	622	+	Melanoma(164;0.0783)		208			Helical; Name=5; (Potential).		B2RN85|Q8NGT6	Missense_Mutation	SNP	ENST00000408979.2	37	c.622G>A	CCDS43671.1	.	.	.	.	.	.	.	.	.	.	G	6.675	0.493145	0.12702	0.0	1.2E-4	ENSG00000221989	ENST00000408979	T	0.37752	1.18	3.47	2.58	0.30949	GPCR, rhodopsin-like superfamily (1);	0.567304	0.13231	U	0.403665	T	0.58104	0.2099	M	0.89353	3.025	0.09310	N	1	D	0.67145	0.996	D	0.69824	0.966	T	0.46020	-0.9221	10	0.27785	T	0.31	-2.5401	5.6966	0.17859	0.2548:0.0:0.7452:0.0	.	208	Q6IF42	OR2A2_HUMAN	R	208	ENSP00000386209:G208R	ENSP00000386209:G208R	G	+	1	0	OR2A2	143438230	0.005000	0.15991	0.014000	0.15608	0.019000	0.09904	0.639000	0.24690	0.791000	0.33826	0.511000	0.50034	GGG		0.522	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1		
CSMD3	114788	broad.mit.edu	37	8	114290824	114290824	+	Missense_Mutation	SNP	C	C	T	rs536561292		TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr8:114290824C>T	ENST00000297405.5	-	3	755	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	CSMD3_ENST00000455883.2_Missense_Mutation_p.E171K|CSMD3_ENST00000343508.3_Missense_Mutation_p.E131K|CSMD3_ENST00000352409.3_Missense_Mutation_p.E171K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	171	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CACTTACCTTCGTAATATACC	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C|||	1	0.000199681	0.0	0.0	5008	,	,		15815	0.001		0.0	False		,,,				2504	0.0					uc003ynu.2																			0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(511-513)GAA>AAA		CUB and Sushi multiple domains 3 isoform 1							112.0	94.0	100.0					8																	114290824		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:114290824C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.511G>A	8.37:g.114290824C>T	ENSP00000297405:p.Glu171Lys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Missense_Mutation_p.E131K|CSMD3_uc011lhx.1_Missense_Mutation_p.E171K|CSMD3_uc010mcx.1_Missense_Mutation_p.E171K	p.E171K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			3	670	-			171			Extracellular (Potential).|CUB 1.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.511G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	5.150	0.213211	0.09757	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.03	5.03	0.67393	CUB (4);	0.000000	0.64402	D	0.000007	T	0.46171	0.1379	L	0.41824	1.3	0.40766	D	0.983044	D;D;D;D	0.76494	0.995;0.999;0.997;0.971	D;D;D;P	0.74023	0.956;0.982;0.967;0.508	T	0.31779	-0.9931	10	0.38643	T	0.18	.	16.2213	0.82258	0.0:1.0:0.0:0.0	.	171;171;171;131	Q7Z407-3;Q7Z407-4;Q7Z407;Q7Z407-2	.;.;CSMD3_HUMAN;.	K	131;171;171;171	ENSP00000345799:E131K;ENSP00000297405:E171K;ENSP00000412263:E171K;ENSP00000343124:E171K	ENSP00000297405:E171K	E	-	1	0	CSMD3	114360000	1.000000	0.71417	1.000000	0.80357	0.058000	0.15608	5.493000	0.66899	2.480000	0.83734	0.543000	0.68304	GAA		0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
DENND3	22898	broad.mit.edu	37	8	142151330	142151330	+	Missense_Mutation	SNP	C	C	T	rs559179440	byFrequency	TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr8:142151330C>T	ENST00000262585.2	+	4	568	c.290C>T	c.(289-291)aCg>aTg	p.T97M	DENND3_ENST00000519811.1_Missense_Mutation_p.T177M|DENND3_ENST00000424248.1_Missense_Mutation_p.T97M|DENND3_ENST00000518347.1_Missense_Mutation_p.T177M	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	97					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			AATGGCAAAACGCACCGGGAG	0.532													C|||	2	0.000399361	0.0008	0.0	5008	,	,		15941	0.0		0.0	False		,,,				2504	0.001					uc003yvy.2																			0				ovary(1)	1						c.(289-291)ACG>ATG		DENN/MADD domain containing 3							165.0	124.0	138.0					8																	142151330		2203	4300	6503	SO:0001583	missense	22898							g.chr8:142151330C>T	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.290C>T	8.37:g.142151330C>T	ENSP00000262585:p.Thr97Met					DENND3_uc003yvw.1_Missense_Mutation_p.T110M|DENND3_uc003yvx.2_Missense_Mutation_p.R176C|DENND3_uc010mep.2_Missense_Mutation_p.T110M	p.T97M	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		4	568	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		97					B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	c.290C>T	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	C	7.486	0.649579	0.14516	.	.	ENSG00000105339	ENST00000519291;ENST00000518347;ENST00000262585;ENST00000424248;ENST00000519811;ENST00000523058;ENST00000518249	T;T;T;T	0.48201	2.83;2.43;2.83;0.82	5.24	-1.05	0.10036	.	2.036920	0.02226	N	0.064419	T	0.41073	0.1143	L	0.47716	1.5	0.09310	N	1	D;D;B	0.58268	0.982;0.967;0.185	B;B;B	0.41202	0.35;0.35;0.01	T	0.41088	-0.9528	10	0.48119	T	0.1	-22.091	6.6204	0.22800	0.0:0.2921:0.3222:0.3857	.	177;97;177	E9PF32;A2RUS2;E5RIR7	.;DEND3_HUMAN;.	M	110;177;97;97;177;177;10	ENSP00000262585:T97M;ENSP00000410594:T97M;ENSP00000428714:T177M;ENSP00000430786:T177M	ENSP00000262585:T97M	T	+	2	0	DENND3	142220512	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.035000	0.13797	-0.597000	0.05813	0.655000	0.94253	ACG		0.532	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957	
TEX13B	56156	broad.mit.edu	37	X	107224904	107224904	+	Missense_Mutation	SNP	G	G	A			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chrX:107224904G>A	ENST00000302917.1	-	2	546	c.454C>T	c.(454-456)Cat>Tat	p.H152Y		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	152								p.H152N(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						CTTACGGCATGGAAGAGCTTC	0.597																																						uc004enn.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(454-456)CAT>TAT		testis expressed 13B							115.0	86.0	96.0					X																	107224904		2200	4300	6500	SO:0001583	missense	56156							g.chrX:107224904G>A	AF285598	CCDS14534.1	Xq23	2008-02-05	2007-03-13		ENSG00000170925	ENSG00000170925			11736	protein-coding gene	gene with protein product		300313	"""testis expressed sequence 13B"""			11279525	Standard	NM_031273		Approved	TSGA5, TGC3B	uc004enn.1	Q9BXU2	OTTHUMG00000022174	ENST00000302917.1:c.454C>T	X.37:g.107224904G>A	ENSP00000303777:p.His152Tyr						p.H152Y	NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN			2	547	-			152					Q5JYF6	Missense_Mutation	SNP	ENST00000302917.1	37	c.454C>T	CCDS14534.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049118	0.36181	.	.	ENSG00000170925	ENST00000302917	.	.	.	3.49	-1.99	0.07457	.	.	.	.	.	T	0.31606	0.0802	L	0.39898	1.24	0.09310	N	1	D	0.57899	0.981	P	0.50490	0.642	T	0.18429	-1.0337	8	0.72032	D	0.01	.	3.4492	0.07491	0.2277:0.0:0.2671:0.5052	.	152	Q9BXU2	TX13B_HUMAN	Y	152	.	ENSP00000303777:H152Y	H	-	1	0	TEX13B	107111560	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.267000	0.08619	-0.672000	0.05266	-0.197000	0.12766	CAT		0.597	TEX13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057857.1		
PASD1	139135	broad.mit.edu	37	X	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)gctdel	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.A229A(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433																																						uc004fev.3																			2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(685-687)GCTdel		PAS domain containing 1																																				SO:0001651	inframe_deletion	139135					nucleus	signal transducer activity	g.chrX:150817142_150817144delGCT	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.685_687delGCT	X.37:g.150817151_150817153delGCT	ENSP00000359382:p.Ala236del						p.A236del	NM_173493	NP_775764	Q8IV76	PASD1_HUMAN			9	1017_1019	+	Acute lymphoblastic leukemia(192;6.56e-05)		236			Poly-Ala.		Q3MNE0|Q69HD7|Q8N7X9	In_Frame_Del	DEL	ENST00000370357.4	37	c.685_687delGCT	CCDS35431.1																																																																																				0.433	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493	
