#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	WXS	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_ENST00000377627.3_Intron|THAP3_ENST00000307896.6_Missense_Mutation_p.L181P	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.3																			1	Substitution - Missense(1)	p.L182P(1)	lung(1)	breast(1)|cervix(1)|large_intestine(1)|prostate(1)	4						c.(544-546)cTt>cCt		Homo sapiens THAP domain containing, apoptosis associated protein 3 (THAP3), transcript variant 3, mRNA.							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.3_Missense_Mutation_p.L181P|THAP3_uc001aoe.2_Intron	p.L182P	NM_001195753	NP_001182682	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)	5	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	WXS	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.3				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		0				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						c.(955-957)aAt>aGt		Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.		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.3_Missense_Mutation_p.N319S|NOTCH2_uc021osy.1_Missense_Mutation_p.N280S|NOTCH2_uc001eim.4_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)	5	1253	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	319			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	WXS	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	NBPF10_ENST00000342960.5_Missense_Mutation_p.R25C|RP11-458D21.5_ENST00000468030.1_3'UTR|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																																						uc021oul.1																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(73-75)Cgc>Tgc		Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.																																				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_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc010oyh.1_Non-coding_Transcript|NBPF10_uc021ouk.1_Missense_Mutation_p.R25C|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)	0	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	WXS	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																																						uc009wne.1																			0				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						c.(4375-4377)cGt>cAt		Homo sapiens trichohyalin (TCHH), mRNA.							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_uc001ezp.2_Missense_Mutation_p.R1459H	p.R1459H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4648	-	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	WXS	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.3		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.0?(37)|p.C136Y(16)|p.C136F(10)|p.C136R(5)|p.?(5)|p.R55fs*1(5)|p.C136fs*1(4)|p.I135K(3)|p.I135fs*44(3)|p.I135fs*45(3)|p.I135V(2)|p.Y27_N212>Y(2)|p.A121_F145del(2)|p.I135_A137>T(2)|p.I135fs*6(2)|p.Y27fs*1(2)|p.I135fs*12(1)|p.T131fs*42(1)|p.C136_A137insGM(1)|p.I135del(1)|p.F56fs*2(1)|p.I135M(1)|p.C136W(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)	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	GRCh37	CM983501	PTEN	M		c.(406-408)tGt>tAt		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							123.0	117.0	119.0					10																	89692923		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;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)				PTEN_uc021pvw.1_Non-coding_Transcript	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)	4	1439	+		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	WXS	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_ENST00000528778.1_5'Flank|DUSP8_ENST00000331588.4_Frame_Shift_Del_p.G603fs	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				endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5						c.(1804-1809)cgcggcfs		Homo sapiens dual specificity phosphatase 8 (DUSP8), mRNA.				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					MOB2_uc001ltq.2_Intron	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)	6	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					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	WXS	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.2																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						c.(730-732)Gta>Cta		Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.							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			0	755	-			244					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	WXS	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.2																			0		p.G235W(1)|p.R236H(1)		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						c.(706-708)Cgc>Tgc		Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.		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			0	706	+		all_epithelial(135;0.196)	236		R -> L (in dbSNP:rs7124871).			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	WXS	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.2																			0				endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48						c.(607-609)tgC>tgT		Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.							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			0	609	+	Esophageal squamous(21;0.00693)		203					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	WXS	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				breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						c.(685-687)aaG>aaA		Homo sapiens fatty acid desaturase 2 (FADS2), mRNA.	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.3_Silent_p.K229K	p.K229K	NM_004265	NP_004256	O95864	FADS2_HUMAN			4	837	+			229					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	WXS	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.3																			2	Deletion - Frameshift(2)	p.K129fs*5(2)	large_intestine(2)	endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6						c.(376-381)cctaaafs		Homo sapiens vascular endothelial growth factor B (VEGFB), transcript variant VEGFB-186, mRNA.																																				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.3_Frame_Shift_Ins_p.P126fs	p.P126fs	NM_003377	NP_003368	P49765	VEGFB_HUMAN			4	628_629	+			126					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	WXS	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.2																			0				endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40						c.(1945-1947)Cgt>Tgt		Homo sapiens CWF19-like 2, cell cycle control (S. pombe) (CWF19L2), mRNA.							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.4_Non-coding_Transcript|CWF19L2_uc009yxo.3_Non-coding_Transcript	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)	12	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					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	WXS	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_ENST00000344100.3_Missense_Mutation_p.R1951Q|CACNA1C_ENST00000399655.1_Missense_Mutation_p.R1910Q|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R1916Q|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R1981Q|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R1910Q|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R1910Q|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R1935Q|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R1929Q|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R1929Q|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R1981Q|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R1930Q|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R1929Q|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R1938Q|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R1927Q|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R1918Q|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R1910Q|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R1910Q|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R1918Q|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R1945Q|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R1945Q|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R1910Q	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				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						c.(5977-5979)cGa>cAa		Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	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_uc001qkc.2_Missense_Mutation_p.R1929Q|CACNA1C_uc001qjz.2_Missense_Mutation_p.R1910Q|CACNA1C_uc001qkd.2_Missense_Mutation_p.R1929Q|CACNA1C_uc001qke.2_Missense_Mutation_p.R1899Q|CACNA1C_uc001qkf.2_Missense_Mutation_p.R1918Q|CACNA1C_uc009zdw.1_Missense_Mutation_p.R1951Q|CACNA1C_uc001qkg.2_Missense_Mutation_p.R1916Q|CACNA1C_uc001qkh.2_Missense_Mutation_p.R1918Q|CACNA1C_uc001qkl.2_Missense_Mutation_p.R1958Q|CACNA1C_uc001qkj.2_Missense_Mutation_p.R1945Q|CACNA1C_uc001qkk.2_Missense_Mutation_p.R1910Q|CACNA1C_uc001qkn.2_Missense_Mutation_p.R1910Q|CACNA1C_uc001qkm.2_Missense_Mutation_p.R1970Q|CACNA1C_uc001qko.2_Missense_Mutation_p.R1930Q|CACNA1C_uc001qkp.2_Missense_Mutation_p.R1910Q|CACNA1C_uc001qkq.2_Missense_Mutation_p.R1938Q|CACNA1C_uc001qku.2_Missense_Mutation_p.R1945Q|CACNA1C_uc001qkr.2_Missense_Mutation_p.R1927Q|CACNA1C_uc001qks.2_Missense_Mutation_p.R1910Q|CACNA1C_uc001qkt.2_Missense_Mutation_p.R1929Q|CACNA1C_uc009zdv.1_Missense_Mutation_p.R1907Q|CACNA1C_uc001qkb.2_Missense_Mutation_p.R1910Q|CACNA1C_uc001qki.1_Missense_Mutation_p.R1717Q|CACNA1C_uc010sea.1_Missense_Mutation_p.R601Q|AK093746_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)	47	6291	+			1993					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	WXS	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.3		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.0?(15)|p.?(6)	bone(11)|breast(5)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(661-663)tgT>tgA		Homo sapiens retinoblastoma 1 (RB1), mRNA.	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_Non-coding_Transcript|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)	6	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	WXS	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																																						uc001yuj.2																			0													Parts of antibodies, mostly variable regions.																																				SO:0001628	intergenic_variant	0							g.chr15:22440477T>A																													15.37:g.22440477T>A																-									Nonsense_Mutation	SNP		37																																																																																					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	WXS	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.3																			0				NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59						c.(3001-3003)tCc>tAc		Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.							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					C15orf42_uc021sug.1_Missense_Mutation_p.S1000Y	p.S1001Y	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		16	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	WXS	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_ENST00000567288.1_5'Flank|ACSM2B_ENST00000565322.1_Missense_Mutation_p.T412M|ACSM2B_ENST00000567001.1_Missense_Mutation_p.T491M|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.4																			0		p.E490A(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(1471-1473)aCg>aTg		Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.		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.4_Missense_Mutation_p.T491M|ACSM2B_uc010bwf.1_Missense_Mutation_p.T491M	p.T491M	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN			12	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	WXS	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_ENST00000359983.3_Missense_Mutation_p.K218I|ATP2A3_ENST00000397041.3_Missense_Mutation_p.K218I|ATP2A3_ENST00000397043.3_Missense_Mutation_p.K218I|ATP2A3_ENST00000309890.7_Missense_Mutation_p.K218I|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397035.3_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)	uc002fwy.2																			0				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						c.(652-654)aAa>aTa		Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.							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_uc002fwz.2_Missense_Mutation_p.K218I|ATP2A3_uc002fxa.2_Missense_Mutation_p.K218I|ATP2A3_uc002fxb.2_Missense_Mutation_p.K218I|ATP2A3_uc002fxc.2_Missense_Mutation_p.K218I|ATP2A3_uc002fxd.2_Missense_Mutation_p.K218I|ATP2A3_uc002fwx.2_Missense_Mutation_p.K218I	p.K218I	NM_174953	NP_777613	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	7	826	-			218					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	WXS	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				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						c.(799-801)cAt>cTt		Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.							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			5	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	WXS	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_ENST00000542042.1_Missense_Mutation_p.C123F|CYB561_ENST00000448884.2_Missense_Mutation_p.C56F|CYB561_ENST00000584031.1_Missense_Mutation_p.C56F|CYB561_ENST00000582297.1_Missense_Mutation_p.C56F|CYB561_ENST00000581163.1_5'Flank|CYB561_ENST00000360793.3_Missense_Mutation_p.C56F|CYB561_ENST00000582034.1_Missense_Mutation_p.C27F|CYB561_ENST00000582997.1_Missense_Mutation_p.C63F|CYB561_ENST00000392975.2_Missense_Mutation_p.C56F|CYB561_ENST00000581573.1_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																																						uc002jaq.3																			0				lung(2)|ovary(1)|prostate(1)	4						c.(304-306)tGc>tTc		Homo sapiens cytochrome b-561 (CYB561), transcript variant 1, mRNA.							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_uc002jap.3_Missense_Mutation_p.C56F|CYB561_uc002jar.3_Missense_Mutation_p.C56F|CYB561_uc002jas.3_Missense_Mutation_p.C56F|CYB561_uc010ddt.3_Missense_Mutation_p.C56F|CYB561_uc002jat.3_Missense_Mutation_p.C56F|CYB561_uc010wpf.2_Missense_Mutation_p.C56F|CYB561_uc010wpg.2_Missense_Mutation_p.C27F	p.C102F	NM_001915	NP_001906	P49447	CY561_HUMAN		READ - Rectum adenocarcinoma(1115;0.0689)	1	328	-			56			Cytochrome b561.		B2RE96|B7Z775|D3DU11|Q5BJG9|Q9BU05|Q9BWR9	Missense_Mutation	SNP	ENST00000392976.1	37	c.305G>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	WXS	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.3																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						c.(2122-2124)Cga>Tga		Homo sapiens centrosomal protein 95kDa (CEP95), mRNA.							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*					CEP95_uc002jen.3_Non-coding_Transcript|CEP95_uc010wqb.2_Nonsense_Mutation_p.R544*	p.R708*	NM_138363	NP_612372	Q96GE4	CEP95_HUMAN			17	2180	+			708					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	WXS	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.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	GRCh37	CI992039	LMAN1	I		c.(910-915)aaagagfs		Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	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			7	944_945	-		Colorectal(73;0.0946)	304					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	WXS	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.3																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(700-702)aTt>aCt		Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.							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.4_Missense_Mutation_p.I234T|FPR2_uc010epf.3_Missense_Mutation_p.I234T|FPR2_uc021uyp.1_Missense_Mutation_p.I234T	p.I234T	NM_001005738	NP_001453	P25090	FPR2_HUMAN			1	746	+			234					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	WXS	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.3																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32						c.(700-702)Gtg>Atg		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.							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.3_Missense_Mutation_p.V168M	p.V234M	NM_012276	NP_036408	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	4	757	-	Ovarian(34;0.19)		234			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	WXS	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_ENST00000391743.3_Missense_Mutation_p.V30M|LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000474878.1_Missense_Mutation_p.V47M|LAIR1_ENST00000348231.4_Missense_Mutation_p.V48M|LAIR1_ENST00000313038.6_Missense_Mutation_p.V41M|LAIR1_ENST00000434277.2_Missense_Mutation_p.V47M			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)	p.V48L(2)|p.V48M(2)	large_intestine(1)|lung(1)	breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26						c.(142-144)Gtg>Atg		Homo sapiens leukocyte-associated immunoglobulin-like receptor 1 (LAIR1), transcript variant a, mRNA.							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.2_Missense_Mutation_p.V41M|LAIR1_uc002qfo.3_Missense_Mutation_p.V30M	p.V48M	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0573)	2	452	-	Ovarian(34;0.19)		48			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	WXS	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.4																			0				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						c.(2548-2550)Gct>Tct		Homo sapiens son of sevenless homolog 1 (Drosophila) (SOS1), mRNA.							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.4_Missense_Mutation_p.A464S	p.A850S	NM_005633	NP_005624	Q07889	SOS1_HUMAN			15	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	WXS	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_ENST00000539491.1_Silent_p.D76D|IL1RL2_ENST00000481806.1_Intron|IL1RL2_ENST00000441515.2_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.3																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						c.(226-228)gaC>gaT		Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.							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.3_Intron	p.D76D	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN			2	354	+			76			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	WXS	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				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						c.(850-852)aCt>aGt		Homo sapiens pleckstrin homology domain containing, family M, member 3 (PLEKHM3), mRNA.							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			2	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	WXS	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.3																			0				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						c.(1276-1278)Gga>Aga		Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.							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.4_Missense_Mutation_p.G426R	p.G426R	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN			5	1276	-			426			Ig-like C2-type 4.		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	WXS	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																																						uc021wim.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						c.(391-393)Ccc>Tcc		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 28 (DNAJC28), transcript variant 1, mRNA.							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_uc002yrv.3_Missense_Mutation_p.P131S|DNAJC28_uc002yrw.3_Missense_Mutation_p.P131S	p.P131S	NM_017833	NP_060303	Q9NX36	DJC28_HUMAN			0	391	-			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	WXS	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.3																			0				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						c.(2221-2223)Cgg>Tgg		Homo sapiens contactin 6 (CNTN6), mRNA.							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.2_Missense_Mutation_p.R669W|CNTN6_uc003bpa.3_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)	17	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	WXS	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				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						c.(8386-8388)aaC>aaT		Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.		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			55	8828	+			2791			Calx-beta 3.		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	WXS	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				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9						c.(598-600)Gtt>Att		Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 6 (SLC10A6), mRNA.							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)	3	746	-		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	200					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	WXS	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.3																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11						c.(85-87)aaC>aaT		Homo sapiens receptor (G protein-coupled) activity modifying protein 3 (RAMP3), mRNA.	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							p.N29N	NM_005856	NP_005847	O60896	RAMP3_HUMAN			1	148	+			29					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	WXS	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_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V	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.3		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(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)	central_nervous_system(23)	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						c.(865-867)gCc>gTc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	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.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_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)		6	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					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	WXS	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_ENST00000446600.1_Silent_p.S208S|DTX2_ENST00000307569.8_Silent_p.S299S|DTX2_ENST00000446820.2_Silent_p.S299S|DTX2_ENST00000413936.2_Silent_p.S299S|DTX2_ENST00000430490.2_Silent_p.S299S	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																																						uc011kgk.1																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						c.(622-624)tcC>tcT		Homo sapiens deltex homolog 2 (Drosophila) (DTX2), transcript variant 1, mRNA.							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_uc003uff.4_Silent_p.S299S|DTX2_uc003ufg.4_Silent_p.S299S|DTX2_uc003ufh.4_Silent_p.S299S|DTX2_uc003ufj.4_Silent_p.S299S	p.S208S	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN			2	976	+			299					Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Silent	SNP	ENST00000324432.5	37	c.624C>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	WXS	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		p.S496P(3)		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						c.(1489-1491)Gca>Aca		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							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			1	1778	-			443			10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.			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	WXS	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																																						uc003vzp.2																			0													SubName: Full=V_segment translation product; Flags: Fragment;																																				SO:0001628	intergenic_variant	154754							g.chr7:142468304_142468305insTA																													7.37:g.142468304_142468305insTA						TRBV5-1_uc011krr.1_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|TCRB_uc011ksp.1_5'Flank										+									Splice_Site	INS		37																																																																																					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	WXS	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.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22						c.(622-624)Ggg>Agg		Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.		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			0	622	+	Melanoma(164;0.0783)		208					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	WXS	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_ENST00000352409.3_Missense_Mutation_p.E171K|CSMD3_ENST00000455883.2_Missense_Mutation_p.E171K|CSMD3_ENST00000343508.3_Missense_Mutation_p.E131K	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.3																			0				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						c.(511-513)Gaa>Aaa		Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.							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.3_Missense_Mutation_p.E131K|CSMD3_uc011lhx.2_Missense_Mutation_p.E171K|CSMD3_uc010mcx.1_Missense_Mutation_p.E171K	p.E171K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			2	670	-			171			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	WXS	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.3																			0				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						c.(289-291)aCg>aTg		Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.							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.3_Missense_Mutation_p.R176C|DENND3_uc010mep.3_Missense_Mutation_p.T110M	p.T97M	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		3	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	WXS	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)	p.H152N(2)	lung(1)	breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(454-456)Cat>Tat		Homo sapiens testis expressed 13B (TEX13B), mRNA.							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			1	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	WXS	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.4																			2	Substitution - coding silent(2)	p.A229A(2)|p.A235D(1)	lung(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						c.(685-687)gctdel		Homo sapiens PAS domain containing 1 (PASD1), mRNA.																																				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			8	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	
