#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	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PCDH15	65217	broad.mit.edu	37	10	55587219	55587219	+	Missense_Mutation	SNP	G	G	A	rs572629527		TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr10:55587219G>A	ENST00000320301.6	-	32	4695	c.4301C>T	c.(4300-4302)gCg>gTg	p.A1434V	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.A1441V|PCDH15_ENST00000395430.1_Missense_Mutation_p.A1431V|PCDH15_ENST00000395433.1_Missense_Mutation_p.A1409V|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395445.1_Missense_Mutation_p.A1441V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.A1434V|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.A1436V|PCDH15_ENST00000409834.1_Missense_Mutation_p.A1045V|PCDH15_ENST00000437009.1_Missense_Mutation_p.A1363V|PCDH15_ENST00000395432.2_Missense_Mutation_p.A1394V|PCDH15_ENST00000395438.1_Missense_Mutation_p.A1434V	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1434					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				cggcgggggcgCTGCCACTGG	0.577										HNSCC(58;0.16)			G|||	1	0.000199681	0.0008	0.0	5008	,	,		10225	0.0		0.0	False		,,,				2504	0.0					uc010qhy.1																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4315-4317)gCg>gTg		Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.							41.0	49.0	46.0					10																	55587219		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55587219G>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4301C>T	10.37:g.55587219G>A	ENSP00000322604:p.Ala1434Val	HNSCC(58;0.16)				PCDH15_uc010qhq.2_Missense_Mutation_p.A1439V|PCDH15_uc010qhr.2_Missense_Mutation_p.A1434V|PCDH15_uc021pqv.1_Missense_Mutation_p.A1434V|PCDH15_uc021pqw.1_Missense_Mutation_p.A1446V|PCDH15_uc010qht.2_Missense_Mutation_p.A1441V|PCDH15_uc021pqx.1_Missense_Mutation_p.A1434V|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.A1434V|PCDH15_uc021pqz.1_Missense_Mutation_p.A1409V|PCDH15_uc010qhv.1_Missense_Mutation_p.A1431V|PCDH15_uc010qhw.1_Missense_Mutation_p.A1394V|PCDH15_uc010qhx.1_Missense_Mutation_p.A1363V|PCDH15_uc010qhz.1_Missense_Mutation_p.A1434V|PCDH15_uc010qia.1_Missense_Mutation_p.A1412V|PCDH15_uc001jju.1_Missense_Mutation_p.A1434V|PCDH15_uc010qib.1_Missense_Mutation_p.A1409V	p.A1439V	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN			32	4711	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1434			Poly-Pro.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.4316C>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825745	0.32237	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.58060	2.95;2.95;2.95;2.95;2.95;2.95;2.95;2.95;2.95;2.95;0.36	5.42	1.44	0.22558	.	.	.	.	.	T	0.27629	0.0679	N	0.14661	0.345	0.09310	N	1	B;P;P;B;P;P;B;B;P;P;B;B;B	0.40794	0.448;0.708;0.708;0.448;0.454;0.708;0.448;0.103;0.729;0.552;0.103;0.127;0.308	B;B;B;B;B;B;B;B;B;B;B;B;B	0.33121	0.085;0.158;0.158;0.058;0.075;0.124;0.085;0.01;0.053;0.035;0.01;0.016;0.085	T	0.07849	-1.0751	9	0.37606	T	0.19	.	5.5011	0.16829	0.2275:0.1472:0.6253:0.0	.	1409;1434;1434;1439;1363;1394;1431;1434;1441;1441;1434;1436;1434	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	V	1441;1436;1434;1434;1045;1441;1394;1434;1409;1434;1431;1439;1363	ENSP00000363076:A1441V;ENSP00000410304:A1436V;ENSP00000378826:A1434V;ENSP00000386693:A1045V;ENSP00000378832:A1441V;ENSP00000378820:A1394V;ENSP00000354950:A1434V;ENSP00000378821:A1409V;ENSP00000322604:A1434V;ENSP00000378818:A1431V;ENSP00000412628:A1363V	ENSP00000322604:A1434V	A	-	2	0	PCDH15	55257225	0.000000	0.05858	0.000000	0.03702	0.569000	0.35902	0.291000	0.18994	0.069000	0.16605	0.591000	0.81541	GCG		0.577	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		20	130	0	0	0	1	0	20	130				
DNAH9	1770	broad.mit.edu	37	17	11872643	11872643	+	Silent	SNP	G	G	A			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr17:11872643G>A	ENST00000262442.4	+	69	13328	c.13260G>A	c.(13258-13260)ctG>ctA	p.L4420L	DNAH9_ENST00000608377.1_Silent_p.L732L|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Silent_p.L4344L|RP11-1096G20.5_ENST00000580270.1_RNA	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4420					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGGCAAAGCTGAAGGATCTGA	0.512																																						uc002gne.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(13258-13260)ctG>ctA		Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.							128.0	116.0	120.0					17																	11872643		2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11872643G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.13260G>A	17.37:g.11872643G>A						DNAH9_uc010coo.3_Silent_p.L3638L|DNAH9_uc002gnf.3_Silent_p.L732L	p.L4420L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	68	13328	+		Breast(5;0.0122)|all_epithelial(5;0.131)	4420					A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.13260G>A	CCDS11160.1																																																																																				0.512	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		12	152	0	0	0	1	0	12	152				
ABCC9	10060	broad.mit.edu	37	12	21970200	21970200	+	Silent	SNP	G	G	A			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr12:21970200G>A	ENST00000261201.4	-	31	3812	c.3813C>T	c.(3811-3813)gaC>gaT	p.D1271D	ABCC9_ENST00000345162.2_Silent_p.D1235D|ABCC9_ENST00000261200.4_Silent_p.D1271D	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1271	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	GGACCTCCAGGTCAGCCAAGT	0.368																																						uc001rfh.3																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(3811-3813)gaC>gaT		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						127.0	130.0	129.0					12																	21970200		2203	4300	6503	SO:0001819	synonymous_variant	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21970200G>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3813C>T	12.37:g.21970200G>A						ABCC9_uc001rfi.1_Silent_p.D1271D	p.D1271D	NM_020297	NP_064693	O60706	ABCC9_HUMAN			30	3833	-			1271			ABC transmembrane type-1 2.		O60707	Silent	SNP	ENST00000261201.4	37	c.3813C>T	CCDS8694.1																																																																																				0.368	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		16	179	0	0	0	1	0	16	179				
FLT4	2324	broad.mit.edu	37	5	180048157	180048157	+	Missense_Mutation	SNP	C	C	T			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr5:180048157C>T	ENST00000261937.6	-	14	2194	c.2116G>A	c.(2116-2118)Gcg>Acg	p.A706T	FLT4_ENST00000393347.3_Missense_Mutation_p.A706T|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.A706T	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	706	Ig-like C2-type 7.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATGCTGGGCGCGTGCGCTCCG	0.667																																					Colon(97;1075 1466 27033 27547 35871)	uc003mlz.4																			0		p.A706E(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2116-2118)Gcg>Acg		Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	Sorafenib(DB00398)|Sunitinib(DB01268)						32.0	33.0	32.0					5																	180048157		2202	4296	6498	SO:0001583	missense	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180048157C>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.2116G>A	5.37:g.180048157C>T	ENSP00000261937:p.Ala706Thr					FLT4_uc003mma.4_Missense_Mutation_p.A706T|FLT4_uc003mmb.1_Missense_Mutation_p.A239T|FLT4_uc011dgy.2_Missense_Mutation_p.A706T	p.A706T	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	13	2195	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	706			Ig-like C2-type 7.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.2116G>A	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	C	7.746	0.702414	0.15172	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.66099	-0.19;-0.19;-0.19	4.4	0.481	0.16809	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.28797	0.0714	N	0.10733	0.035	0.09310	N	1	P;B;B;B	0.41524	0.753;0.007;0.003;0.003	B;B;B;B	0.26770	0.073;0.021;0.008;0.008	T	0.15925	-1.0420	9	0.10377	T	0.69	.	8.5473	0.33429	0.0:0.5083:0.0:0.4917	.	706;516;706;706	P35916-3;E9PFB0;E9PD35;P35916	.;.;.;VGFR3_HUMAN	T	706;706;706;516	ENSP00000261937:A706T;ENSP00000377016:A706T;ENSP00000426057:A706T	ENSP00000261937:A706T	A	-	1	0	FLT4	179980763	0.001000	0.12720	0.199000	0.23439	0.917000	0.54804	0.104000	0.15313	0.093000	0.17368	0.462000	0.41574	GCG		0.667	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			7	80	0	0	0	1	0	7	80				
EXOC7	23265	broad.mit.edu	37	17	74084631	74084631	+	Missense_Mutation	SNP	T	T	C			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr17:74084631T>C	ENST00000335146.7	-	11	1419	c.1366A>G	c.(1366-1368)Agc>Ggc	p.S456G	EXOC7_ENST00000589210.1_Missense_Mutation_p.S405G|EXOC7_ENST00000332065.5_Missense_Mutation_p.S374G|EXOC7_ENST00000411744.2_Missense_Mutation_p.S397G|EXOC7_ENST00000467929.2_Missense_Mutation_p.S364G|EXOC7_ENST00000405575.4_Missense_Mutation_p.S428G|EXOC7_ENST00000607838.1_Missense_Mutation_p.S428G			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	456					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			TTCTTTGTGCTGGCAGCCGTG	0.597																																						uc002jqs.3																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14						c.(1366-1368)Agc>Ggc		Homo sapiens exocyst complex component 7 (EXOC7), transcript variant 4, mRNA.							102.0	78.0	86.0					17																	74084631		2203	4300	6503	SO:0001583	missense	23265				exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding	g.chr17:74084631T>C	BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.1366A>G	17.37:g.74084631T>C	ENSP00000334100:p.Ser456Gly					EXOC7_uc010dgv.2_Missense_Mutation_p.S352G|EXOC7_uc010wsv.2_Missense_Mutation_p.S364G|EXOC7_uc010wsw.2_Missense_Mutation_p.S428G|EXOC7_uc002jqq.3_Missense_Mutation_p.S405G|EXOC7_uc010wsx.2_Missense_Mutation_p.S397G|EXOC7_uc002jqr.3_Missense_Mutation_p.S374G	p.S456G	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		10	1461	-			456					B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Missense_Mutation	SNP	ENST00000335146.7	37	c.1366A>G	CCDS45782.1	.	.	.	.	.	.	.	.	.	.	T	10.90	1.480329	0.26598	.	.	ENSG00000182473	ENST00000332065;ENST00000351709;ENST00000405575;ENST00000335146;ENST00000357231;ENST00000425372;ENST00000411744	.	.	.	5.41	3.15	0.36227	Cullin repeat-like-containing domain (1);	0.206931	0.64402	N	0.000017	T	0.24470	0.0593	N	0.03608	-0.345	0.80722	D	1	B;B;B;B;B;B;B	0.12013	0.004;0.002;0.0;0.002;0.002;0.005;0.001	B;B;B;B;B;B;B	0.14578	0.004;0.003;0.006;0.001;0.011;0.001;0.0	T	0.03139	-1.1068	9	0.34782	T	0.22	-17.5065	4.8471	0.13519	0.0:0.2365:0.1528:0.6107	.	397;428;364;364;456;374;405	Q9UPT5-5;Q9UPT5-6;B4DJ07;F5H1P1;Q9UPT5;Q9UPT5-2;Q9UPT5-1	.;.;.;.;EXOC7_HUMAN;.;.	G	374;294;428;456;405;364;397	.	ENSP00000333806:S374G	S	-	1	0	EXOC7	71596226	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	3.343000	0.52167	0.343000	0.23821	0.533000	0.62120	AGC		0.597	EXOC7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000319768.2	NM_015219		5	35	0	0	0	1	0	5	35				
GPR152	390212	broad.mit.edu	37	11	67219491	67219491	+	Silent	SNP	G	G	A	rs78290792		TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr11:67219491G>A	ENST00000312457.2	-	1	709	c.705C>T	c.(703-705)ttC>ttT	p.F235F	CABP4_ENST00000438189.2_5'Flank	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CCACACGGGCGAAGCCCCGGC	0.662																																					Pancreas(102;800 1581 2723 7382 33622)	uc001olm.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(703-705)ttC>ttT		Homo sapiens G protein-coupled receptor 152 (GPR152), mRNA.							30.0	32.0	31.0					11																	67219491		2200	4295	6495	SO:0001819	synonymous_variant	390212					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:67219491G>A	AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514		"""GPCR / Class A : Orphans"""	23622	protein-coding gene	gene with protein product						12679517	Standard	NM_206997		Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.705C>T	11.37:g.67219491G>A						CABP4_uc009yrw.1_5'Flank|CABP4_uc001oln.3_5'Flank	p.F235F	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		0	710	-			235					Q0VD88|Q86SM0	Silent	SNP	ENST00000312457.2	37	c.705C>T	CCDS8165.1																																																																																				0.662	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397623.1			5	48	0	0	0	1	0	5	48				
RYR2	6262	broad.mit.edu	37	1	237993860	237993860	+	Missense_Mutation	SNP	G	G	A			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr1:237993860G>A	ENST00000366574.2	+	103	15003	c.14686G>A	c.(14686-14688)Gat>Aat	p.D4896N	RYR2_ENST00000542537.1_Missense_Mutation_p.D4880N|RYR2_ENST00000360064.6_Missense_Mutation_p.D4902N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4896					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GATAGGCAATGATTACTTCGA	0.423																																						uc001hyl.1																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(14686-14688)Gat>Aat		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							222.0	207.0	212.0					1																	237993860		1957	4158	6115	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237993860G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14686G>A	1.37:g.237993860G>A	ENSP00000355533:p.Asp4896Asn					RYR2_uc010pyb.1_Intron	p.D4896N	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		102	14806	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4896					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.14686G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	36	5.811127	0.96975	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96885	-4.16;-4.13;-4.16	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000005	D	0.96411	0.8829	L	0.55990	1.75	0.80722	D	1	D	0.56968	0.978	P	0.50825	0.651	D	0.96804	0.9591	10	0.87932	D	0	-18.4137	19.4432	0.94831	0.0:0.0:1.0:0.0	.	4896	Q92736	RYR2_HUMAN	N	4896;4902;4880	ENSP00000355533:D4896N;ENSP00000353174:D4902N;ENSP00000443798:D4880N	ENSP00000353174:D4902N	D	+	1	0	RYR2	236060483	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	9.809000	0.99208	2.578000	0.87016	0.655000	0.94253	GAT		0.423	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		18	176	0	0	0	1	0	18	176				
PLTP	5360	broad.mit.edu	37	20	44539816	44539816	+	Missense_Mutation	SNP	C	C	A	rs139898818		TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr20:44539816C>A	ENST00000477313.1	-	2	769	c.175G>T	c.(175-177)Ggc>Tgc	p.G59C	PLTP_ENST00000354050.4_Missense_Mutation_p.G59C|PLTP_ENST00000372431.3_Missense_Mutation_p.G59C|PLTP_ENST00000542937.1_Missense_Mutation_p.G79C|PLTP_ENST00000372420.1_5'Flank|PLTP_ENST00000420868.2_Missense_Mutation_p.G59C			P55058	PLTP_HUMAN	phospholipid transfer protein	59					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|sperm motility (GO:0030317)|vitamin E biosynthetic process (GO:0010189)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				TAGAAGTGGCCTTCTTTGCCC	0.617																																						uc002xqm.2																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21						c.(235-237)Ggc>Tgc		Homo sapiens phospholipid transfer protein (PLTP), transcript variant 4, mRNA.							88.0	90.0	89.0					20																	44539816		2203	4300	6503	SO:0001583	missense	5360				cellular lipid metabolic process|lipid transport	extracellular region	lipid binding	g.chr20:44539816C>A	L26232	CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1	20q13.12	2011-08-16			ENSG00000100979	ENSG00000100979		"""BPI fold containing"""	9093	protein-coding gene	gene with protein product	"""BPI fold containing family E"""	172425					Standard	NM_006227		Approved	BPIFE	uc002xqn.2	P55058	OTTHUMG00000033047	ENST00000477313.1:c.175G>T	20.37:g.44539816C>A	ENSP00000417138:p.Gly59Cys					PLTP_uc002xql.2_5'Flank|PLTP_uc010zxj.2_Missense_Mutation_p.G59C|PLTP_uc002xqq.2_Missense_Mutation_p.G28C|PLTP_uc002xqn.2_Missense_Mutation_p.G59C|PLTP_uc002xqo.2_Missense_Mutation_p.G59C	p.G79C	NM_001242921	NP_001229850	P55058	PLTP_HUMAN			1	770	-		Myeloproliferative disorder(115;0.0122)	59					A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Missense_Mutation	SNP	ENST00000477313.1	37	c.235G>T	CCDS13386.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.356569	0.82243	.	.	ENSG00000100979	ENST00000372431;ENST00000354050;ENST00000477313;ENST00000542937;ENST00000420868	T;T;T;T;T	0.08720	3.06;3.06;3.06;3.06;3.06	5.2	4.24	0.50183	Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.049033	0.85682	D	0.000000	T	0.30510	0.0767	M	0.79123	2.44	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	0.994;0.994;1.0;1.0;1.0;1.0	P;P;D;D;D;D	0.85130	0.804;0.804;0.996;0.993;0.996;0.997	T	0.14117	-1.0484	10	0.87932	D	0	-9.823	15.8394	0.78835	0.0:0.8639:0.1361:0.0	.	59;59;59;59;59;79	E7EV16;B4DRB4;Q53H91;P55058-2;P55058;B3KUE5	.;.;.;.;PLTP_HUMAN;.	C	59;59;59;79;59	ENSP00000361508:G59C;ENSP00000335290:G59C;ENSP00000417138:G59C;ENSP00000440296:G79C;ENSP00000411671:G59C	ENSP00000335290:G59C	G	-	1	0	PLTP	43973223	1.000000	0.71417	0.588000	0.28705	0.984000	0.73092	6.763000	0.74955	1.397000	0.46682	0.563000	0.77884	GGC		0.617	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354633.1	NM_006227		15	158	0	0	0	1	0	15	158				
MYO15A	51168	broad.mit.edu	37	17	18022676	18022676	+	Missense_Mutation	SNP	C	C	T			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr17:18022676C>T	ENST00000205890.5	+	2	900	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	188					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGGCCGGCTCCGGAGGTTCCC	0.711																																						uc021trm.1																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(562-564)Cgg>Tgg		Homo sapiens myosin XVA (MYO15A), mRNA.							17.0	19.0	19.0					17																	18022676		1896	4104	6000	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity	g.chr17:18022676C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.562C>T	17.37:g.18022676C>T	ENSP00000205890:p.Arg188Trp					MYO15A_uc021trl.1_Missense_Mutation_p.R188W	p.R188W	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			0	781	+	all_neural(463;0.228)		188			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.562C>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118454	0.37339	.	.	ENSG00000091536	ENST00000205890	D	0.90955	-2.76	5.34	4.31	0.51392	.	.	.	.	.	D	0.91452	0.7302	L	0.29908	0.895	0.24464	N	0.994425	D	0.89917	1.0	D	0.67548	0.952	D	0.84148	0.0421	9	0.87932	D	0	.	12.6023	0.56504	0.2451:0.7549:0.0:0.0	.	188	Q9UKN7	MYO15_HUMAN	W	188	ENSP00000205890:R188W	ENSP00000205890:R188W	R	+	1	2	MYO15A	17963401	0.754000	0.28360	0.990000	0.47175	0.081000	0.17604	1.562000	0.36353	2.481000	0.83766	0.555000	0.69702	CGG		0.711	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		25	44	0	0	0	1	0	25	44				
LAMA3	3909	broad.mit.edu	37	18	21501533	21501533	+	Missense_Mutation	SNP	A	A	G	rs377376620		TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr18:21501533A>G	ENST00000313654.9	+	62	8402	c.8161A>G	c.(8161-8163)Att>Gtt	p.I2721V	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Missense_Mutation_p.I1112V|LAMA3_ENST00000587184.1_Missense_Mutation_p.I1056V|LAMA3_ENST00000399516.3_Missense_Mutation_p.I2665V	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2721	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					AGGAATTCCAATTGCAATCAG	0.333																																						uc002kuq.3																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(8161-8163)Att>Gtt		Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	G	VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	121.0	126.0	125.0		3334,7993,3166,8161	2.0	0.9	18		125	0,8600		0,0,4300	no	missense,missense,missense,missense	LAMA3	NM_000227.3,NM_001127717.1,NM_001127718.1,NM_198129.1	29,29,29,29	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	1112/1725,2665/3278,1056/1669,2721/3334	21501533	1,13005	2203	4300	6503	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21501533A>G	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.8161A>G	18.37:g.21501533A>G	ENSP00000324532:p.Ile2721Val					LAMA3_uc002kur.3_Missense_Mutation_p.I2665V|LAMA3_uc002kus.4_Missense_Mutation_p.I1112V|LAMA3_uc002kut.4_Missense_Mutation_p.I1056V	p.I2721V	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			61	8247	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2721			Laminin G-like 2.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.8161A>G	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	a	11.53	1.664806	0.29604	2.27E-4	0.0	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.77489	-1.1;-1.1;-1.1	5.77	1.96	0.26148	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.71762	0.3378	M	0.68317	2.08	0.09310	N	0.999998	B;P;B;P	0.35527	0.316;0.497;0.367;0.507	B;B;B;B	0.40101	0.235;0.319;0.253;0.238	T	0.59731	-0.7399	9	0.30078	T	0.28	.	1.1169	0.01716	0.492:0.1276:0.1351:0.2452	.	1056;1112;2665;2721	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	V	2721;2665;1112	ENSP00000324532:I2721V;ENSP00000382432:I2665V;ENSP00000269217:I1112V	ENSP00000269217:I1112V	I	+	1	0	LAMA3	19755531	1.000000	0.71417	0.866000	0.34008	0.996000	0.88848	1.180000	0.32005	0.094000	0.17404	-0.253000	0.11424	ATT		0.333	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		9	121	0	0	0	1	0	9	121				
HPS3	84343	broad.mit.edu	37	3	148889914	148889914	+	Silent	SNP	C	C	T			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr3:148889914C>T	ENST00000296051.2	+	17	3060	c.2920C>T	c.(2920-2922)Ctg>Ttg	p.L974L	HPS3_ENST00000460120.1_Silent_p.L809L	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	974					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GGAACTAGAACTGAAGGATTT	0.343									Hermansky-Pudlak syndrome																													uc003ewu.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34						c.(2920-2922)Ctg>Ttg		Homo sapiens Hermansky-Pudlak syndrome 3 (HPS3), mRNA.							113.0	109.0	110.0					3																	148889914		2202	4300	6502	SO:0001819	synonymous_variant	84343	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148889914C>T	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.2920C>T	3.37:g.148889914C>T						CP_uc011bnr.2_Intron|HPS3_uc011bnq.1_Silent_p.L809L|HPS3_uc003ewv.1_Non-coding_Transcript	p.L974L	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		16	3060	+			974					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Silent	SNP	ENST00000296051.2	37	c.2920C>T	CCDS3140.1																																																																																				0.343	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		20	51	0	0	0	1	0	20	51				
EIF3A	8661	broad.mit.edu	37	10	120797843	120797843	+	Missense_Mutation	SNP	T	T	A			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr10:120797843T>A	ENST00000369144.3	-	20	3762	c.3635A>T	c.(3634-3636)gAt>gTt	p.D1212V	EIF3A_ENST00000541549.1_Missense_Mutation_p.D1178V	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		atcttgattatctctgtccct	0.488																																						uc001ldu.3																			0				endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56						c.(3634-3636)gAt>gTt		Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.							276.0	230.0	246.0					10																	120797843		2203	4300	6503	SO:0001583	missense	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120797843T>A	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.3635A>T	10.37:g.120797843T>A	ENSP00000358140:p.Asp1212Val					EIF3A_uc010qsu.2_Missense_Mutation_p.D1178V|EIF3A_uc009xzg.1_Missense_Mutation_p.D251V	p.D1212V	NM_003750	NP_003741	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	19	3781	-		Lung NSC(174;0.094)|all_lung(145;0.123)	1212			Asp-rich.		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	c.3635A>T	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	T	9.383	1.073450	0.20147	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.29397	1.57;1.61	4.11	4.11	0.48088	.	0.180767	0.25628	U	0.029365	T	0.37517	0.1006	L	0.39898	1.24	0.58432	D	0.99999	D;B	0.61080	0.989;0.241	P;B	0.59487	0.858;0.151	T	0.04216	-1.0968	10	0.31617	T	0.26	-13.6853	9.8198	0.40876	0.0:0.0:0.0:1.0	.	1178;1212	F5H335;Q14152	.;EIF3A_HUMAN	V	1212;1178	ENSP00000358140:D1212V;ENSP00000438178:D1178V	ENSP00000358140:D1212V	D	-	2	0	EIF3A	120787833	0.998000	0.40836	0.851000	0.33527	0.804000	0.45430	4.447000	0.60020	2.090000	0.63153	0.459000	0.35465	GAT		0.488	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		8	179	0	0	0	1	0	8	179				
CLEC16A	23274	broad.mit.edu	37	16	11217709	11217709	+	Silent	SNP	C	C	T			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr16:11217709C>T	ENST00000409790.1	+	21	2609	c.2379C>T	c.(2377-2379)ttC>ttT	p.F793F	CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000409552.3_Silent_p.F775F|CLEC16A_ENST00000381822.2_5'Flank	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGGCCACCTTCATCTTCTCAG	0.602																																						uc021tcy.1																			1	Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2377-2379)ttC>ttT		Homo sapiens C-type lectin domain family 16, member A (CLEC16A), transcript variant 1, mRNA.							62.0	68.0	66.0					16																	11217709		2118	4237	6355	SO:0001819	synonymous_variant	23274							g.chr16:11217709C>T	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.2379C>T	16.37:g.11217709C>T						CLEC16A_uc002dan.4_Silent_p.F775F|CLEC16A_uc002dao.3_Silent_p.F791F|CLEC16A_uc002dap.3_5'Flank	p.F793F	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN			20	2609	+			793						Silent	SNP	ENST00000409790.1	37	c.2379C>T	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.424865	0.25639	.	.	ENSG00000038532	ENST00000428742	.	.	.	5.55	2.31	0.28768	.	.	.	.	.	T	0.53965	0.1829	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41752	-0.9491	4	.	.	.	-23.1287	6.2745	0.20973	0.0:0.3426:0.0:0.6574	.	.	.	.	L	37	.	.	S	+	2	0	CLEC16A	11125210	0.922000	0.31269	0.849000	0.33467	0.997000	0.91878	0.606000	0.24194	0.211000	0.20683	0.655000	0.94253	TCA		0.602	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		9	88	0	0	0	1	0	9	88				
HTR4	3360	broad.mit.edu	37	5	147863844	147863844	+	Intron	SNP	G	G	T			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr5:147863844G>T	ENST00000377888.3	-	7	1215				HTR4_ENST00000517929.1_Intron|HTR4_ENST00000521530.1_Intron|HTR4_ENST00000314512.6_Intron|HTR4_ENST00000354217.2_Intron|HTR4_ENST00000520514.1_Intron|HTR4_ENST00000521735.1_Intron|HTR4_ENST00000360693.3_Missense_Mutation_p.T392N|HTR4_ENST00000362016.2_Intron	NM_000870.5	NP_000861.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled						G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	cttccttgcagtcaaacatcT	0.413																																					GBM(120;370 1604 14007 17804 41573)	uc021yfj.1																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1174-1176)aCt>aAt		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant i, mRNA.	Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)						90.0	89.0	89.0					5																	147863844		2203	4300	6503	SO:0001627	intron_variant	3360				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity	g.chr5:147863844G>T	Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5299	protein-coding gene	gene with protein product		602164	"""5-hydroxytryptamine (serotonin) receptor 4"""			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000377888.3:c.1077-988C>A	5.37:g.147863844G>T						HTR4_uc021yfg.1_Intron|HTR4_uc021yfh.1_Intron|HTR4_uc010jgu.1_Intron|HTR4_uc021yfi.1_Intron|HTR4_uc011dby.1_Intron|HTR4_uc003lpn.3_Intron|HTR4_uc010jgv.3_Intron	p.T392N	NM_001040173	NP_001035263	Q13639	5HT4R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	1222	-			359					C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Missense_Mutation	SNP	ENST00000377888.3	37	c.1175C>A	CCDS4291.1	.	.	.	.	.	.	.	.	.	.	G	6.459	0.452818	0.12283	.	.	ENSG00000164270	ENST00000360693	T	0.71341	-0.56	2.91	-1.81	0.07882	.	5.600410	0.00166	N	0.000011	T	0.53738	0.1815	.	.	.	0.09310	N	1	B	0.22604	0.072	B	0.19666	0.026	T	0.25710	-1.0124	9	0.30078	T	0.28	.	3.7885	0.08710	0.5509:0.21:0.2391:0.0	.	392	Q712M9	.	N	392	ENSP00000353915:T392N	ENSP00000353915:T392N	T	-	2	0	HTR4	147844037	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.133000	0.03232	-0.427000	0.07350	-0.142000	0.14014	ACT		0.413	HTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252187.2	NM_000870		11	38	0	0	0	1	0	11	38				
TTC9B	148014	broad.mit.edu	37	19	40722102	40722102	+	Missense_Mutation	SNP	C	C	T			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr19:40722102C>T	ENST00000311308.6	-	3	705	c.688G>A	c.(688-690)Gct>Act	p.A230T		NM_152479.5	NP_689692.2	Q8N6N2	TTC9B_HUMAN	tetratricopeptide repeat domain 9B	230					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						TGGGACCCAGCCCCACTGTCT	0.602																																						uc002onc.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						c.(688-690)Gct>Act		Homo sapiens tetratricopeptide repeat domain 9B (TTC9B), mRNA.							124.0	98.0	107.0					19																	40722102		2203	4300	6503	SO:0001583	missense	148014						binding	g.chr19:40722102C>T	BC029539	CCDS12550.1	19q13.2	2013-01-11				ENSG00000174521		"""Tetratricopeptide (TTC) repeat domain containing"""	26395	protein-coding gene	gene with protein product							Standard	NM_152479		Approved	FLJ30373	uc002onc.3	Q8N6N2		ENST00000311308.6:c.688G>A	19.37:g.40722102C>T	ENSP00000311760:p.Ala230Thr						p.A230T	NM_152479	NP_689692	Q8N6N2	TTC9B_HUMAN			2	706	-			230					A8K0I5|Q96NP9	Missense_Mutation	SNP	ENST00000311308.6	37	c.688G>A	CCDS12550.1	.	.	.	.	.	.	.	.	.	.	c	13.00	2.105736	0.37145	.	.	ENSG00000174521	ENST00000311308	T	0.31510	1.49	4.23	2.03	0.26663	.	0.887861	0.09257	U	0.827109	T	0.17619	0.0423	N	0.22421	0.69	0.20196	N	0.999924	B	0.02656	0.0	B	0.01281	0.0	T	0.32640	-0.9899	10	0.12430	T	0.62	-0.1245	6.3868	0.21566	0.0:0.7513:0.0:0.2487	.	230	Q8N6N2	TTC9B_HUMAN	T	230	ENSP00000311760:A230T	ENSP00000311760:A230T	A	-	1	0	TTC9B	45413942	0.002000	0.14202	0.429000	0.26710	0.268000	0.26511	0.130000	0.15850	0.746000	0.32786	0.556000	0.70494	GCT		0.602	TTC9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462604.1	NM_152479		10	148	0	0	0	1	0	10	148				
MAGEC1	9947	broad.mit.edu	37	X	140996442	140996442	+	Silent	SNP	A	A	G			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chrX:140996442A>G	ENST00000285879.4	+	4	3538	c.3252A>G	c.(3250-3252)gtA>gtG	p.V1084V	MAGEC1_ENST00000406005.2_Silent_p.V151V	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1084	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGAAAGTAGTAGAGTTTT	0.458										HNSCC(15;0.026)																												uc004fbt.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(3250-3252)gtA>gtG		Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.							148.0	138.0	141.0					X																	140996442		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140996442A>G	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.3252A>G	X.37:g.140996442A>G		HNSCC(15;0.026)				MAGEC1_uc010nsl.2_Silent_p.V151V|MAGEC1_uc022cfi.1_Silent_p.V743V	p.V1084V	NM_005462	NP_005453	O60732	MAGC1_HUMAN			3	3576	+	Acute lymphoblastic leukemia(192;6.56e-05)		1084			MAGE.		A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.3252A>G	CCDS35417.1																																																																																				0.458	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		100	233	0	0	0	1	0	100	233				
THBS4	7060	broad.mit.edu	37	5	79354580	79354580	+	Silent	SNP	C	C	T			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr5:79354580C>T	ENST00000350881.2	+	5	889	c.699C>T	c.(697-699)ctC>ctT	p.L233L	THBS4_ENST00000511733.1_Silent_p.L142L|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	233					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TAAACCAACTCCTGGGAGAGG	0.483																																						uc021yaw.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(697-699)ctC>ctT		Homo sapiens thrombospondin 4 (THBS4), mRNA.							67.0	68.0	68.0					5																	79354580		2203	4300	6503	SO:0001819	synonymous_variant	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79354580C>T		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.699C>T	5.37:g.79354580C>T							p.L233L	NM_003248	NP_003239	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	4	890	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	233					B2R909|Q86TG2	Silent	SNP	ENST00000350881.2	37	c.699C>T	CCDS4049.1																																																																																				0.483	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			5	66	0	0	0	1	0	5	66				
F10	2159	broad.mit.edu	37	13	113803380	113803380	+	Missense_Mutation	SNP	C	C	T	rs201675411		TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr13:113803380C>T	ENST00000375559.3	+	8	1054	c.1016C>T	c.(1015-1017)gCg>gTg	p.A339V	F10_ENST00000375551.3_3'UTR|F10_ENST00000409306.1_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	339	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	ATGAACGTGGCGCCTGCCTGC	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15189	0.0		0.0	False		,,,				2504	0.0					uc001vsx.3																			0				endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18						c.(1015-1017)gCg>gTg		Homo sapiens coagulation factor X (F10), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)						121.0	94.0	103.0					13																	113803380		2203	4300	6503	SO:0001583	missense	2159				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	g.chr13:113803380C>T		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.1016C>T	13.37:g.113803380C>T	ENSP00000364709:p.Ala339Val					F10_uc001vsy.3_3'UTR	p.A339V	NM_000504	NP_000495	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)		7	1073	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	339			Peptidase S1.		Q14340	Missense_Mutation	SNP	ENST00000375559.3	37	c.1016C>T	CCDS9530.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.062	-1.221331	0.01530	.	.	ENSG00000126218	ENST00000375559	D	0.89050	-2.46	5.25	3.41	0.39046	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.398760	0.25903	N	0.027551	T	0.66015	0.2747	N	0.10760	0.04	0.09310	N	1	P	0.37015	0.578	B	0.29598	0.104	T	0.64462	-0.6402	10	0.02654	T	1	.	3.4406	0.07462	0.0:0.4945:0.1999:0.3056	.	339	P00742	FA10_HUMAN	V	339	ENSP00000364709:A339V	ENSP00000364709:A339V	A	+	2	0	F10	112851381	0.226000	0.23696	0.813000	0.32504	0.000000	0.00434	3.712000	0.54875	1.215000	0.43411	-0.251000	0.11542	GCG		0.637	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3			47	118	0	0	0	1	0	47	118				
NSMAF	8439	broad.mit.edu	37	8	59511805	59511805	+	Missense_Mutation	SNP	A	A	C			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr8:59511805A>C	ENST00000038176.3	-	19	1783	c.1571T>G	c.(1570-1572)gTt>gGt	p.V524G	NSMAF_ENST00000427130.2_Missense_Mutation_p.V555G|NSMAF_ENST00000519858.1_5'Flank	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	524	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				ATGGGCCCCAACTGCATCACT	0.338																																						uc011lee.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38						c.(1663-1665)gTt>gGt		Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor (NSMAF), transcript variant 2, mRNA.							162.0	154.0	157.0					8																	59511805		2203	4300	6503	SO:0001583	missense	8439				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	g.chr8:59511805A>C	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.1571T>G	8.37:g.59511805A>C	ENSP00000038176:p.Val524Gly					NSMAF_uc003xtt.3_Missense_Mutation_p.V524G	p.V555G	NM_001144772	NP_001138244	Q92636	FAN_HUMAN			18	1725	-		all_lung(136;0.174)|Lung NSC(129;0.2)	524			BEACH.		B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	ENST00000038176.3	37	c.1664T>G	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	A	12.39	1.922480	0.33908	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	T;T	0.66638	-0.22;-0.22	6.17	6.17	0.99709	BEACH domain (4);	0.449133	0.24447	N	0.038454	D	0.84629	0.5514	M	0.94021	3.485	0.37183	D	0.9036	P;P	0.49862	0.929;0.758	P;P	0.57204	0.815;0.713	D	0.90197	0.4254	9	.	.	.	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	555;524	Q92636-2;Q92636	.;FAN_HUMAN	G	524;555	ENSP00000038176:V524G;ENSP00000411012:V555G	.	V	-	2	0	NSMAF	59674359	0.977000	0.34250	0.040000	0.18447	0.002000	0.02628	7.412000	0.80091	2.371000	0.80710	0.533000	0.62120	GTT		0.338	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580		24	192	0	0	0	1	0	24	192				
LRIG1	26018	broad.mit.edu	37	3	66434551	66434551	+	Silent	SNP	C	C	T			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr3:66434551C>T	ENST00000273261.3	-	14	2459	c.1935G>A	c.(1933-1935)gaG>gaA	p.E645E	SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000383703.3_Intron|LRIG1_ENST00000496559.2_5'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	645	Ig-like C2-type 2.				innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GCATGCGTCGCTCACGGGCAG	0.567																																						uc003dmx.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(1933-1935)gaG>gaA		Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.							130.0	117.0	122.0					3																	66434551		2203	4300	6503	SO:0001819	synonymous_variant	26018					integral to membrane		g.chr3:66434551C>T	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.1935G>A	3.37:g.66434551C>T						SLC25A26_uc011bft.2_Intron|LRIG1_uc011bfu.2_Silent_p.E265E|LRIG1_uc003dmw.3_Silent_p.E311E|LRIG1_uc010hnz.3_Silent_p.E361E|LRIG1_uc010hoa.3_Intron	p.E645E	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	13	1949	-		Lung NSC(201;0.0101)	645			Ig-like C2-type 2.		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Silent	SNP	ENST00000273261.3	37	c.1935G>A	CCDS33783.1																																																																																				0.567	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		11	176	0	0	0	1	0	11	176				
C1R	715	broad.mit.edu	37	12	7188364	7188364	+	Missense_Mutation	SNP	C	C	A			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr12:7188364C>A	ENST00000542285.1	-	11	1583	c.1434G>T	c.(1432-1434)atG>atT	p.M478I				P00736	C1R_HUMAN	complement component 1, r subcomponent	530	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TTCCTAGCTTCATGAGCTCTT	0.567																																						uc010sfy.2																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16						c.(1354-1356)atG>atT		Homo sapiens complement component 1, r subcomponent (C1R), mRNA.	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						123.0	131.0	128.0					12																	7188364		2198	4298	6496	SO:0001583	missense	715				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7188364C>A	M14058		12p13.31	2014-05-14			ENSG00000159403	ENSG00000159403	3.4.21.41	"""Complement system"""	1246	protein-coding gene	gene with protein product		613785					Standard	NM_001733		Approved		uc010sfy.2	P00736	OTTHUMG00000168149	ENST00000542285.1:c.1434G>T	12.37:g.7188364C>A	ENSP00000438615:p.Met478Ile						p.M452I	NM_001733	NP_001724	P00736	C1R_HUMAN			8	1415	-			530					A6NJQ8|Q68D77|Q8J012	Missense_Mutation	SNP	ENST00000542285.1	37	c.1356G>T		.	.	.	.	.	.	.	.	.	.	C	2.966	-0.213475	0.06140	.	.	ENSG00000159403	ENST00000290575;ENST00000542285	D	0.88431	-2.38	5.44	-0.148	0.13424	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.278400	0.05190	N	0.502986	T	0.81805	0.4900	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.63866	-0.6540	9	0.35671	T	0.21	.	6.8157	0.23829	0.0:0.2486:0.4235:0.3279	.	530	P00736	C1R_HUMAN	I	493;478	ENSP00000438615:M478I	ENSP00000290575:M493I	M	-	3	0	C1R	7058619	0.000000	0.05858	0.002000	0.10522	0.027000	0.11550	-0.324000	0.07986	-0.360000	0.08138	-0.274000	0.10170	ATG		0.567	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001733		16	184	0	0	0	1	0	16	184				
MYBL2	4605	broad.mit.edu	37	20	42331451	42331451	+	Missense_Mutation	SNP	G	G	A			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr20:42331451G>A	ENST00000217026.4	+	8	1400	c.1273G>A	c.(1273-1275)Gag>Aag	p.E425K	MYBL2_ENST00000396863.4_Missense_Mutation_p.E401K	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	425					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCCTGTCACTGAGAATAGCAC	0.612																																						uc002xlb.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46						c.(1273-1275)Gag>Aag		Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA.							125.0	99.0	108.0					20																	42331451		2203	4300	6503	SO:0001583	missense	4605					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:42331451G>A		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.1273G>A	20.37:g.42331451G>A	ENSP00000217026:p.Glu425Lys					MYBL2_uc010zwj.1_Missense_Mutation_p.E401K	p.E425K	NM_002466	NP_002457	P10244	MYBB_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		7	1488	+		Myeloproliferative disorder(115;0.00452)	425					B2RBS5|B7Z8D9|F8W6N6|Q53F07	Missense_Mutation	SNP	ENST00000217026.4	37	c.1273G>A	CCDS13322.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.649671	0.67358	.	.	ENSG00000101057	ENST00000396863;ENST00000217026	T;T	0.15017	2.46;2.48	4.99	4.99	0.66335	.	0.180342	0.47093	D	0.000247	T	0.24005	0.0581	N	0.19112	0.55	0.45076	D	0.998099	D;D	0.76494	0.96;0.999	P;D	0.63793	0.737;0.918	T	0.04976	-1.0914	10	0.15952	T	0.53	-38.7282	17.4343	0.87547	0.0:0.0:1.0:0.0	.	401;425	F8W6N6;P10244	.;MYBB_HUMAN	K	401;425	ENSP00000380072:E401K;ENSP00000217026:E425K	ENSP00000217026:E425K	E	+	1	0	MYBL2	41764865	1.000000	0.71417	0.963000	0.40424	0.737000	0.42083	6.492000	0.73654	2.488000	0.83962	0.462000	0.41574	GAG		0.612	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		13	98	0	0	0	1	0	13	98				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333	NP_004324	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		34	71	0	0	0	1	0	34	71				
PLA2R1	22925	broad.mit.edu	37	2	160798656	160798656	+	Missense_Mutation	SNP	C	C	T			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr2:160798656C>T	ENST00000283243.7	-	29	4365	c.4159G>A	c.(4159-4161)Gag>Aag	p.E1387K	PLA2R1_ENST00000460710.1_5'UTR	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1387					cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GGCAGCGCCTCTGCAGTGTGA	0.299																																						uc002ube.2																		PLA2R1/RBMS1(2)	0				central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(4159-4161)Gag>Aag		Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.							48.0	53.0	51.0					2																	160798656		2202	4300	6502	SO:0001583	missense	22925				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160798656C>T	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.4159G>A	2.37:g.160798656C>T	ENSP00000283243:p.Glu1387Lys					PLA2R1_uc010zcp.2_Missense_Mutation_p.E1385K	p.E1387K	NM_007366	NP_031392	Q13018	PLA2R_HUMAN			28	4371	-			1387					B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	c.4159G>A	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.463623	0.01062	.	.	ENSG00000153246	ENST00000283243	T	0.06218	3.33	5.89	3.49	0.39957	.	0.857935	0.10467	N	0.671256	T	0.03095	0.0091	N	0.08118	0	0.09310	N	0.999992	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46569	-0.9182	10	0.07030	T	0.85	.	7.3477	0.26672	0.0:0.0755:0.1562:0.7682	.	1385;1387	B7ZML4;Q13018	.;PLA2R_HUMAN	K	1387	ENSP00000283243:E1387K	ENSP00000283243:E1387K	E	-	1	0	PLA2R1	160506902	0.002000	0.14202	0.001000	0.08648	0.003000	0.03518	0.557000	0.23454	0.455000	0.26910	-0.302000	0.09304	GAG		0.299	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			7	65	0	0	0	1	0	7	65				
