#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
TMEM63A	9725	broad.mit.edu	37	1	226050509	226050509	+	Silent	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr1:226050509G>A	ENST00000366835.3	-	11	1059	c.789C>T	c.(787-789)tgC>tgT	p.C263C	TMEM63A_ENST00000474478.1_5'UTR|TMEM63A_ENST00000537914.1_5'UTR	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	263					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CCACGTTGTAGCACAGCTGCA	0.577																																						uc001hpm.2																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(787-789)tgC>tgT		Homo sapiens transmembrane protein 63A (TMEM63A), mRNA.							115.0	81.0	93.0					1																	226050509		2203	4300	6503	SO:0001819	synonymous_variant	9725					integral to membrane|lysosomal membrane	nucleotide binding	g.chr1:226050509G>A		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.789C>T	1.37:g.226050509G>A			Somatic					p.C263C	NM_014698	NP_055513	WXS	Illumina GAIIx	Phase_I	O94886	TM63A_HUMAN			10	1411	-	Breast(184;0.197)		263					Q53GI7|Q5TE96|Q8N2U2	Silent	SNP	ENST00000366835.3	37	c.789C>T	CCDS31042.1																																																																																				0.577	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698		3	79	0	0	0	1	0	3	79				
FAM111B	374393	broad.mit.edu	37	11	58892674	58892674	+	Silent	SNP	G	G	A	rs371989300		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr11:58892674G>A	ENST00000343597.3	+	4	1295	c.1104G>A	c.(1102-1104)ccG>ccA	p.P368P	FAM111B_ENST00000529618.1_Silent_p.P338P|FAM111B_ENST00000411426.1_Silent_p.P338P	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	368							catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						GACGGAGGCCGCATCTGGGTA	0.383																																						uc001nnl.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						c.(1102-1104)ccG>ccA		Homo sapiens family with sequence similarity 111, member B (FAM111B), transcript variant 1, mRNA.		G	,,	1,4401	2.1+/-5.4	0,1,2200	68.0	75.0	73.0		1014,1014,1104	-0.8	0.0	11		73	0,8588		0,0,4294	no	coding-synonymous,coding-synonymous,coding-synonymous	FAM111B	NM_001142703.1,NM_001142704.1,NM_198947.3	,,	0,1,6494	AA,AG,GG		0.0,0.0227,0.0077	,,	338/705,338/705,368/735	58892674	1,12989	2201	4294	6495	SO:0001819	synonymous_variant	374393						catalytic activity	g.chr11:58892674G>A	BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.1104G>A	11.37:g.58892674G>A			Somatic				FAM111B_uc001nnm.3_Silent_p.P338P|FAM111B_uc010rko.2_Silent_p.P338P|FAM111B_uc021qjn.1_Silent_p.P338P	p.P368P	NM_198947	NP_001136176	WXS	Illumina GAIIx	Phase_I	Q6SJ93	F111B_HUMAN			3	1347	+			368					B4E2G2|Q6P661	Silent	SNP	ENST00000343597.3	37	c.1104G>A	CCDS7972.1																																																																																				0.383	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947		4	229	0	0	0	1	0	4	229				
PCNXL4	64430	broad.mit.edu	37	14	60591629	60591629	+	Missense_Mutation	SNP	G	G	A	rs141333786		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr14:60591629G>A	ENST00000406854.1	+	9	3294	c.2740G>A	c.(2740-2742)Gca>Aca	p.A914T	PCNXL4_ENST00000404681.2_Missense_Mutation_p.A914T|PCNXL4_ENST00000317623.4_Missense_Mutation_p.A680T|PCNXL4_ENST00000535349.1_Missense_Mutation_p.A121T|PCNXL4_ENST00000406949.1_Missense_Mutation_p.A680T			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	914						integral component of membrane (GO:0016021)											ATGCTTACCCGCAGAGTGGAG	0.433																																						uc001xer.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	18						c.(2038-2040)Gca>Aca		Homo sapiens chromosome 14 open reading frame 135 (C14orf135), mRNA.		G	THR/ALA	0,4406		0,0,2203	105.0	110.0	109.0		2038	2.1	0.9	14	dbSNP_134	109	1,8599	1.2+/-3.3	0,1,4299	no	missense	C14orf135	NM_022495.5	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	680/939	60591629	1,13005	2203	4300	6503	SO:0001583	missense	64430					integral to membrane		g.chr14:60591629G>A	AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.2740G>A	14.37:g.60591629G>A	ENSP00000384801:p.Ala914Thr		Somatic				C14orf135_uc001xeq.2_Missense_Mutation_p.A680T|C14orf135_uc010apm.3_Non-coding_Transcript	p.A680T	NM_022495	NP_071940	WXS	Illumina GAIIx	Phase_I	Q63HM2	CN135_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.127)	7	2560	+		Myeloproliferative disorder(585;0.163)	914					A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	ENST00000406854.1	37	c.2038G>A		.	.	.	.	.	.	.	.	.	.	G	6.817	0.519841	0.13005	0.0	1.16E-4	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681;ENST00000535349	T;T;T;T;T	0.29397	1.99;1.99;1.99;1.99;1.57	4.99	2.08	0.27032	.	0.485632	0.24740	N	0.035983	T	0.10809	0.0264	N	0.08118	0	0.19300	N	0.999974	B;B	0.32620	0.065;0.378	B;B	0.19148	0.002;0.024	T	0.28586	-1.0039	10	0.15952	T	0.53	.	7.0604	0.25123	0.1459:0.2644:0.5897:0.0	.	914;680	Q63HM2;B5MC47	CN135_HUMAN;.	T	680;914;680;914;121	ENSP00000317396:A680T;ENSP00000384801:A914T;ENSP00000385201:A680T;ENSP00000385713:A914T;ENSP00000445644:A121T	ENSP00000317396:A680T	A	+	1	0	C14orf135	59661382	0.980000	0.34600	0.924000	0.36721	0.710000	0.40934	1.970000	0.40520	0.210000	0.20664	0.305000	0.20034	GCA		0.433	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		4	217	0	0	0	1	0	4	217				
ZNF770	54989	broad.mit.edu	37	15	35274879	35274879	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr15:35274879G>A	ENST00000356321.4	-	3	1101	c.757C>T	c.(757-759)Cgt>Tgt	p.R253C		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	253					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		GATTCTGTACGCCTCTTCTTT	0.368																																						uc001ziw.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29						c.(757-759)Cgt>Tgt		Homo sapiens zinc finger protein 770 (ZNF770), mRNA.							41.0	43.0	42.0					15																	35274879		2201	4298	6499	SO:0001583	missense	54989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:35274879G>A	BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"""Zinc fingers, C2H2-type"""	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.757C>T	15.37:g.35274879G>A	ENSP00000348673:p.Arg253Cys		Somatic				ZNF770_uc021siy.1_Missense_Mutation_p.R253C	p.R253C	NM_014106	NP_054825	WXS	Illumina GAIIx	Phase_I	Q6IQ21	ZN770_HUMAN		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)	2	1111	-		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)	253					Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	37	c.757C>T	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	G	2.255	-0.370584	0.05069	.	.	ENSG00000198146	ENST00000356321	T	0.10099	2.91	5.17	4.05	0.47172	.	0.463790	0.19982	U	0.101745	T	0.05640	0.0148	N	0.08118	0	0.19945	N	0.999941	P	0.51653	0.947	B	0.38296	0.27	T	0.20273	-1.0280	10	0.87932	D	0	-0.0212	11.4796	0.50318	0.0:0.0:0.1582:0.8418	.	253	Q6IQ21	ZN770_HUMAN	C	253	ENSP00000348673:R253C	ENSP00000348673:R253C	R	-	1	0	ZNF770	33062171	0.862000	0.29867	0.023000	0.16930	0.042000	0.13812	1.419000	0.34793	0.991000	0.38814	-0.262000	0.10625	CGT		0.368	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		3	59	0	0	0	1	0	3	59				
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A	rs558808115		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr4:146059006G>A	ENST00000447906.2	-	21	3108	c.2921C>T	c.(2920-2922)aCt>aTt	p.T974I	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Missense_Mutation_p.T909I			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	974					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463																																						uc003ika.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2725-2727)aCt>aTt		Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.							128.0	133.0	131.0					4																	146059006		2203	4300	6503	SO:0001583	missense	54726						protein binding	g.chr4:146059006G>A		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2921C>T	4.37:g.146059006G>A	ENSP00000395487:p.Thr974Ile		Somatic					p.T909I	NM_001102653	NP_001096123	WXS	Illumina GAIIx	Phase_I	Q01804	OTUD4_HUMAN			20	2864	-	all_hematologic(180;0.151)		973					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37	c.2726C>T		.	.	.	.	.	.	.	.	.	.	G	13.28	2.191504	0.38707	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.34275	1.37;1.37	6.17	5.33	0.75918	.	1.059000	0.07258	N	0.867023	T	0.32793	0.0841	N	0.24115	0.695	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.14023	0.01;0.004	T	0.02275	-1.1184	10	0.59425	D	0.04	-0.3286	15.5098	0.75772	0.0658:0.0:0.9342:0.0	.	974;973	G3V0I6;Q01804	.;OTUD4_HUMAN	I	909;974	ENSP00000409279:T909I;ENSP00000395487:T974I	ENSP00000395487:T974I	T	-	2	0	OTUD4	146278456	0.027000	0.19231	0.108000	0.21378	0.880000	0.50808	2.210000	0.42816	1.621000	0.50320	0.655000	0.94253	ACT		0.463	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		4	240	0	0	0	1	0	4	240				
RTEL1	51750	broad.mit.edu	37	20	62324212	62324212	+	Missense_Mutation	SNP	G	G	A	rs143317975		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr20:62324212G>A	ENST00000360203.5	+	29	3032	c.2707G>A	c.(2707-2709)Gtg>Atg	p.V903M	RTEL1_ENST00000370003.1_Missense_Mutation_p.V148M|RTEL1_ENST00000318100.4_Missense_Mutation_p.V903M|RTEL1_ENST00000370018.3_Missense_Mutation_p.V903M|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.V903M|RTEL1_ENST00000508582.2_Missense_Mutation_p.V927M					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CATGGTGGCCGTGAAGCAGGA	0.642																																						uc021wge.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2707-2709)Gtg>Atg		Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.		G	MET/VAL,MET/VAL	0,4392		0,0,2196	86.0	78.0	80.0		2707,2779	4.6	0.9	20	dbSNP_134	80	1,8581	1.2+/-3.3	0,1,4290	no	missense,missense	RTEL1	NM_016434.3,NM_032957.4	21,21	0,1,6486	AA,AG,GG		0.0117,0.0,0.0077	possibly-damaging,possibly-damaging	903/1220,927/1244	62324212	1,12973	2196	4291	6487	SO:0001583	missense	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62324212G>A	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.2707G>A	20.37:g.62324212G>A	ENSP00000353332:p.Val903Met		Somatic				RTEL1_uc011abc.2_Non-coding_Transcript|RTEL1_uc002yfu.2_Missense_Mutation_p.V903M|RTEL1_uc011abd.2_Missense_Mutation_p.V927M|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc011abe.1_Missense_Mutation_p.V680M|RTEL1_uc002yfx.1_Missense_Mutation_p.V148M|TNFRSF6B_uc002yfy.3_5'Flank|TNFRSF6B_uc002yfz.3_5'Flank	p.V903M	NM_016434	NP_057518	WXS	Illumina GAIIx	Phase_I	Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		27	2877	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		903						Missense_Mutation	SNP	ENST00000360203.5	37	c.2707G>A		.	.	.	.	.	.	.	.	.	.	G	14.86	2.660166	0.47572	0.0	1.17E-4	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000370003	T;T;T;T;T	0.10763	2.84;2.84;2.84;2.84;2.84	4.59	4.59	0.56863	.	0.111999	0.64402	D	0.000010	T	0.31009	0.0783	L	0.61387	1.9	0.39435	D	0.967157	D;D;D;D	0.89917	0.968;1.0;0.991;0.975	P;D;P;P	0.91635	0.714;0.999;0.791;0.742	T	0.05835	-1.0861	10	0.56958	D	0.05	-27.1972	16.5163	0.84301	0.0:0.0:1.0:0.0	.	927;148;903;903	Q9NZ71-7;Q9NZ71-5;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	M	903;903;927;903;148	ENSP00000359035:V903M;ENSP00000322287:V903M;ENSP00000424307:V927M;ENSP00000353332:V903M;ENSP00000359020:V148M	ENSP00000353332:V903M	V	+	1	0	AL353715.1	61794656	1.000000	0.71417	0.939000	0.37840	0.343000	0.28985	3.355000	0.52262	2.271000	0.75665	0.442000	0.29010	GTG		0.642	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		3	137	0	0	0	1	0	3	137				
LEMD3	23592	broad.mit.edu	37	12	65564560	65564560	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr12:65564560G>A	ENST00000308330.2	+	1	1210	c.1184G>A	c.(1183-1185)gGt>gAt	p.G395D	LEMD3_ENST00000541171.1_Intron	NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	395					negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		CATATTGGCGGTGGGGCCTTC	0.537																																						uc001ssl.2																			0				breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1183-1185)gGt>gAt		Homo sapiens LEM domain containing 3 (LEMD3), transcript variant 1, mRNA.							62.0	71.0	68.0					12																	65564560		2203	4300	6503	SO:0001583	missense	23592				negative regulation of BMP signaling pathway|negative regulation of activin receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding	g.chr12:65564560G>A	AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.1184G>A	12.37:g.65564560G>A	ENSP00000308369:p.Gly395Asp		Somatic				LEMD3_uc009zqo.2_Missense_Mutation_p.G395D	p.G395D	NM_014319	NP_055134	WXS	Illumina GAIIx	Phase_I	Q9Y2U8	MAN1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)	0	1210	+			395					Q9NT47|Q9NYA5	Missense_Mutation	SNP	ENST00000308330.2	37	c.1184G>A	CCDS8972.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.997963	0.35226	.	.	ENSG00000174106	ENST00000308330	T	0.51817	0.69	3.96	3.04	0.35103	.	0.413267	0.21710	N	0.070297	T	0.29945	0.0749	N	0.19112	0.55	0.29690	N	0.841036	B	0.27559	0.181	B	0.21151	0.033	T	0.14896	-1.0456	9	.	.	.	-1.5237	13.0416	0.58901	0.0:0.164:0.836:0.0	.	395	Q9Y2U8	MAN1_HUMAN	D	395	ENSP00000308369:G395D	.	G	+	2	0	LEMD3	63850827	1.000000	0.71417	0.896000	0.35187	0.803000	0.45373	4.204000	0.58460	1.203000	0.43233	0.462000	0.41574	GGT		0.537	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2			4	180	0	0	0	1	0	4	180				
IGHE	3497	broad.mit.edu	37	14	106067926	106067926	+	lincRNA	SNP	G	G	A	rs375096440		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr14:106067926G>A	ENST00000390540.2	-	0	459				AL928742.12_ENST00000412518.1_lincRNA|IGHE_ENST00000576077.1_RNA|IGHE_ENST00000577108.1_RNA																							CCCGTTGAGGGAGCCTGTGTC	0.612																																						uc001yrw.1																			0											c.(181-183)tCc>tTc		RecName: Full=Ig epsilon chain C region;		G		1,4287		0,1,2143	127.0	141.0	136.0			2.8	0.1	14		136	0,8460		0,0,4230	no	intergenic				0,1,6373	AA,AG,GG		0.0,0.0233,0.0078			106067926	1,12747	2144	4230	6374			3497							g.chr14:106067926G>A																													14.37:g.106067926G>A			Somatic				abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_Missense_Mutation_p.S8F|IGHE_uc001yru.2_5'Flank	p.S61F			WXS	Illumina GAIIx	Phase_I					1	194	-									Missense_Mutation	SNP	ENST00000390540.2	37	c.182C>T																																																																																					0.612	RP11-731F5.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000380286.1			3	105	0	0	0	1	0	3	105				
ZFYVE9	9372	broad.mit.edu	37	1	52703746	52703746	+	Silent	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr1:52703746G>A	ENST00000371591.1	+	3	788	c.657G>A	c.(655-657)ccG>ccA	p.P219P	ZFYVE9_ENST00000287727.3_Silent_p.P219P|ZFYVE9_ENST00000357206.2_Silent_p.P219P	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	219					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TGAATAGACCGAAAACAGAGG	0.363																																						uc001cto.3																			0				breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						c.(655-657)ccG>ccA		Homo sapiens zinc finger, FYVE domain containing 9 (ZFYVE9), transcript variant 3, mRNA.							85.0	88.0	87.0					1																	52703746		2203	4300	6503	SO:0001819	synonymous_variant	9372				SMAD protein complex assembly|SMAD protein import into nucleus|endocytosis|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52703746G>A	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.657G>A	1.37:g.52703746G>A			Somatic				ZFYVE9_uc001ctn.3_Silent_p.P219P|ZFYVE9_uc001ctp.3_Silent_p.P219P	p.P219P	NM_004799	NP_004790	WXS	Illumina GAIIx	Phase_I	O95405	ZFYV9_HUMAN			3	829	+			219					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Silent	SNP	ENST00000371591.1	37	c.657G>A	CCDS563.1																																																																																				0.363	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		4	237	0	0	0	1	0	4	237				
HGFAC	3083	broad.mit.edu	37	4	3443797	3443797	+	Silent	SNP	C	C	G	rs538844201	byFrequency	TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr4:3443797C>G	ENST00000382774.3	+	1	184	c.69C>G	c.(67-69)ctC>ctG	p.L23L	HGFAC_ENST00000511533.1_Silent_p.L23L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	23					proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCCTCCTCCTCCTGCTGCTGC	0.716													C|||	2	0.000399361	0.0008	0.0	5008	,	,		13350	0.0		0.0	False		,,,				2504	0.001					uc010icw.3																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(67-69)ctC>ctG		Homo sapiens HGF activator (HGFAC), mRNA.							13.0	16.0	15.0					4																	3443797		1723	3604	5327	SO:0001819	synonymous_variant	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3443797C>G	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.69C>G	4.37:g.3443797C>G			Somatic				HGFAC_uc003ghc.3_Silent_p.L23L	p.L23L	NM_001528	NP_001519	WXS	Illumina GAIIx	Phase_I	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	0	72	+			23					Q14726|Q2M1W7|Q53X47	Silent	SNP	ENST00000382774.3	37	c.69C>G	CCDS3369.1																																																																																				0.716	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			3	46	0	0	0	1	0	3	46				
SETX	23064	broad.mit.edu	37	9	135173645	135173645	+	Missense_Mutation	SNP	G	G	A	rs370368422		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr9:135173645G>A	ENST00000224140.5	-	13	5785	c.5603C>T	c.(5602-5604)cCg>cTg	p.P1868L	SETX_ENST00000393220.1_Missense_Mutation_p.P1868L|SETX_ENST00000372169.2_Missense_Mutation_p.P1868L	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1868					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TAAATTGGCCGGAAAGTTCTC	0.388																																						uc004cbk.3																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(5602-5604)cCg>cTg		Homo sapiens senataxin (SETX), mRNA.		G	LEU/PRO	0,4406		0,0,2203	98.0	95.0	96.0		5603	5.7	0.1	9		96	1,8599	1.2+/-3.3	0,1,4299	no	missense	SETX	NM_015046.5	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1868/2678	135173645	1,13005	2203	4300	6503	SO:0001583	missense	23064				RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135173645G>A	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.5603C>T	9.37:g.135173645G>A	ENSP00000224140:p.Pro1868Leu		Somatic				SETX_uc004cbj.3_Missense_Mutation_p.P1487L|SETX_uc010mzt.3_Missense_Mutation_p.P1487L	p.P1868L	NM_015046	NP_055861	WXS	Illumina GAIIx	Phase_I	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	12	5786	-		Myeloproliferative disorder(178;0.204)	1868					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.5603C>T	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471479	0.63737	0.0	1.16E-4	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.90197	-2.08;-2.63;-2.17;-1.8	5.72	5.72	0.89469	.	0.189487	0.37219	N	0.002192	D	0.88724	0.6514	L	0.29908	0.895	0.37388	D	0.912315	B;D;D	0.63880	0.042;0.987;0.993	B;P;P	0.51079	0.019;0.456;0.658	D	0.87891	0.2684	10	0.23302	T	0.38	.	16.5947	0.84792	0.0:0.0:1.0:0.0	.	1868;1868;1868	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	L	1868;110;1868;1868	ENSP00000224140:P1868L;ENSP00000409143:P110L;ENSP00000361242:P1868L;ENSP00000376913:P1868L	ENSP00000224140:P1868L	P	-	2	0	SETX	134163466	0.589000	0.26807	0.092000	0.20876	0.761000	0.43186	2.864000	0.48404	2.696000	0.92011	0.591000	0.81541	CCG		0.388	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		3	106	0	0	0	1	0	3	106				
CTTNBP2	83992	broad.mit.edu	37	7	117368303	117368303	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr7:117368303A>G	ENST00000160373.3	-	17	3986	c.3895T>C	c.(3895-3897)Tcc>Ccc	p.S1299P		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1299					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TCGCAGGGGGAGGGCGCCTGA	0.512																																						uc003vjf.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(3895-3897)Tcc>Ccc		Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.							79.0	90.0	86.0					7																	117368303		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117368303A>G		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.3895T>C	7.37:g.117368303A>G	ENSP00000160373:p.Ser1299Pro		Somatic					p.S1299P	NM_033427	NP_219499	WXS	Illumina GAIIx	Phase_I	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	16	3987	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		1299					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.3895T>C	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.572|7.572	0.666994|0.666994	0.14710|0.14710	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000446636|ENST00000160373	.|D	.|0.90788	.|-2.73	5.22|5.22	1.42|1.42	0.22433|0.22433	.|.	.|0.446324	.|0.26143	.|N	.|0.026099	D|D	0.85526|0.85526	0.5717|0.5717	L|L	0.58669|0.58669	1.825|1.825	0.23515|0.23515	N|N	0.997519|0.997519	.|B	.|0.11235	.|0.004	.|B	.|0.10450	.|0.005	T|T	0.74466|0.74466	-0.3656|-0.3656	5|10	.|0.46703	.|T	.|0.11	22.8976|22.8976	5.3613|5.3613	0.16089|0.16089	0.4928:0.3126:0.1945:0.0|0.4928:0.3126:0.1945:0.0	.|.	.|1299	.|Q8WZ74	.|CTTB2_HUMAN	P|P	786|1299	.|ENSP00000160373:S1299P	.|ENSP00000160373:S1299P	L|S	-|-	2|1	0|0	CTTNBP2|CTTNBP2	117155539|117155539	0.997000|0.997000	0.39634|0.39634	0.176000|0.176000	0.23000|0.23000	0.378000|0.378000	0.30076|0.30076	1.390000|1.390000	0.34464|0.34464	0.053000|0.053000	0.16036|0.16036	-0.280000|-0.280000	0.10049|0.10049	CTC|TCC		0.512	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		3	237	0	0	0	1	0	3	237				
GIMAP8	155038	broad.mit.edu	37	7	150163814	150163814	+	Missense_Mutation	SNP	G	G	A	rs143529569		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr7:150163814G>A	ENST00000307271.3	+	2	602	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	10	AIG1-type G 1.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.E10K(2)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CCAGATGTCCGAACTGCGGCT	0.507																																						uc003whj.3																			2	Substitution - Missense(2)	p.E10K(4)	large_intestine(1)|skin(1)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62						c.(28-30)Gaa>Aaa		Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.							48.0	51.0	50.0					7																	150163814		2203	4300	6503	SO:0001583	missense	155038					Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding	g.chr7:150163814G>A	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.28G>A	7.37:g.150163814G>A	ENSP00000305107:p.Glu10Lys		Somatic					p.E10K	NM_175571	NP_783161	WXS	Illumina GAIIx	Phase_I	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	1	358	+			10						Missense_Mutation	SNP	ENST00000307271.3	37	c.28G>A	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271644	0.59649	.	.	ENSG00000171115	ENST00000307271	T	0.61274	0.12	4.48	-5.23	0.02798	.	1.488750	0.04286	N	0.344696	T	0.49541	0.1563	L	0.50847	1.595	0.09310	N	1	D	0.67145	0.996	P	0.49683	0.619	T	0.50676	-0.8800	10	0.18710	T	0.47	.	1.8855	0.03237	0.3116:0.3671:0.1974:0.1239	.	10	Q8ND71	GIMA8_HUMAN	K	10	ENSP00000305107:E10K	ENSP00000305107:E10K	E	+	1	0	GIMAP8	149794747	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.230000	0.17852	-1.051000	0.03226	-0.844000	0.03045	GAA		0.507	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		3	99	0	0	0	1	0	3	99				
OR6C3	254786	broad.mit.edu	37	12	55725701	55725701	+	Missense_Mutation	SNP	G	G	A	rs139430640	byFrequency	TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr12:55725701G>A	ENST00000379667.1	+	1	217	c.217G>A	c.(217-219)Gta>Ata	p.V73I		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	73					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						ATTTACAACCGTATGCATCCC	0.428																																						uc010spj.2																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						c.(217-219)Gta>Ata		Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA.			ILE/VAL	0,4406		0,0,2203	95.0	105.0	102.0		217	4.1	0.4	12	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR6C3	NM_054104.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	73/312	55725701	1,13005	2203	4300	6503	SO:0001583	missense	254786				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55725701G>A	AF179770	CCDS31819.1	12q13.2	2013-09-23			ENSG00000205329	ENSG00000205329		"""GPCR / Class A : Olfactory receptors"""	15437	protein-coding gene	gene with protein product							Standard	NM_054104		Approved	OST709	uc010spj.2	Q9NZP0	OTTHUMG00000169861	ENST00000379667.1:c.217G>A	12.37:g.55725701G>A	ENSP00000368989:p.Val73Ile		Somatic					p.V73I	NM_054104	NP_473445	WXS	Illumina GAIIx	Phase_I	Q9NZP0	OR6C3_HUMAN			0	217	+			73						Missense_Mutation	SNP	ENST00000379667.1	37	c.217G>A	CCDS31819.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.446486	0.43429	0.0	1.16E-4	ENSG00000205329	ENST00000379667	T	0.01234	5.13	5.02	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.158118	0.29424	N	0.012191	T	0.02047	0.0064	L	0.45581	1.43	0.09310	N	1	D	0.54772	0.968	P	0.46629	0.522	T	0.49303	-0.8954	10	0.49607	T	0.09	.	6.1286	0.20194	0.1514:0.0:0.6839:0.1648	.	73	Q9NZP0	OR6C3_HUMAN	I	73	ENSP00000368989:V73I	ENSP00000368989:V73I	V	+	1	0	OR6C3	54011968	0.000000	0.05858	0.410000	0.26471	0.610000	0.37248	0.690000	0.25451	2.771000	0.95319	0.461000	0.40582	GTA		0.428	OR6C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406309.1			4	149	0	0	0	1	0	4	149				
KCNC4	3749	broad.mit.edu	37	1	110754255	110754255	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr1:110754255C>T	ENST00000369787.3	+	1	161	c.134C>T	c.(133-135)aCg>aTg	p.T45M	KCNC4_ENST00000413138.3_Missense_Mutation_p.T45M|KCNC4-AS1_ENST00000455967.1_RNA|KCNC4_ENST00000438661.2_Missense_Mutation_p.T45M	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	45					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTGGGCGGCACGCGACATGAG	0.682																																						uc009wfr.3																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32						c.(133-135)aCg>aTg		Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 4 (KCNC4), transcript variant 3, mRNA.							53.0	52.0	52.0					1																	110754255		2203	4300	6503	SO:0001583	missense	3749				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr1:110754255C>T	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6236	protein-coding gene	gene with protein product		176265	"""chromosome 1 open reading frame 30"""	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.134C>T	1.37:g.110754255C>T	ENSP00000358802:p.Thr45Met		Somatic				KCNC4_uc001dzf.3_Missense_Mutation_p.T45M|KCNC4_uc001dzh.3_Missense_Mutation_p.T45M|KCNC4_uc001dzi.3_Non-coding_Transcript|KCNC4_uc001dzg.3_Missense_Mutation_p.T45M	p.T45M	NM_001039574	NP_001034663	WXS	Illumina GAIIx	Phase_I	Q03721	KCNC4_HUMAN		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)	0	920	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	45					Q3MIM4|Q5TBI6	Missense_Mutation	SNP	ENST00000369787.3	37	c.134C>T	CCDS821.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.390136	0.42410	.	.	ENSG00000116396	ENST00000369787;ENST00000413138;ENST00000438661	T;T;T	0.77489	-1.1;-1.1;-1.1	4.02	3.1	0.35709	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.77824	0.4188	L	0.49778	1.585	0.49582	D	0.999805	P;P;D	0.76494	0.67;0.619;0.999	B;B;D	0.68039	0.283;0.119;0.955	T	0.79988	-0.1571	10	0.66056	D	0.02	.	10.6474	0.45628	0.0:0.9034:0.0:0.0966	.	45;45;45	Q03721;Q03721-3;Q03721-2	KCNC4_HUMAN;.;.	M	45	ENSP00000358802:T45M;ENSP00000388029:T45M;ENSP00000393655:T45M	ENSP00000358802:T45M	T	+	2	0	KCNC4	110555778	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.794000	0.69067	1.800000	0.52685	0.462000	0.41574	ACG		0.682	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		3	67	0	0	0	1	0	3	67				
MEFV	4210	broad.mit.edu	37	16	3304298	3304298	+	Missense_Mutation	SNP	G	G	A	rs201025181		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr16:3304298G>A	ENST00000219596.1	-	2	809	c.770C>T	c.(769-771)cCa>cTa	p.P257L	MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron|MEFV_ENST00000541159.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	257					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GAGAATTTCTGGATTTGCGGG	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		13560	0.001		0.0	False		,,,				2504	0.0					uc002cun.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(769-771)cCa>cTa		Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	Colchicine(DB01394)						116.0	132.0	127.0					16																	3304298		2197	4300	6497	SO:0001583	missense	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3304298G>A	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.770C>T	16.37:g.3304298G>A	ENSP00000219596:p.Pro257Leu		Somatic				MEFV_uc021tbw.1_Intron|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_Intron	p.P257L	NM_000243	NP_000234	WXS	Illumina GAIIx	Phase_I	O15553	MEFV_HUMAN			1	810	-			257					D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	c.770C>T	CCDS10498.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	12.80	2.045150	0.36085	.	.	ENSG00000103313	ENST00000545159;ENST00000219596	T	0.70631	-0.5	5.31	3.3	0.37823	.	0.840199	0.10448	N	0.673403	T	0.69043	0.3067	L	0.48642	1.525	0.09310	N	0.99999	D	0.56521	0.976	P	0.48524	0.58	T	0.57963	-0.7720	10	0.87932	D	0	-16.218	8.8325	0.35093	0.0:0.1631:0.6679:0.1691	.	257	O15553	MEFV_HUMAN	L	257	ENSP00000219596:P257L	ENSP00000219596:P257L	P	-	2	0	MEFV	3244299	0.247000	0.23920	0.002000	0.10522	0.137000	0.21094	1.308000	0.33528	0.835000	0.34877	0.655000	0.94253	CCA		0.577	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		48	178	0	0	0	1	0	48	178				
PCDHB5	26167	broad.mit.edu	37	5	140516096	140516096	+	Silent	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr5:140516096G>A	ENST00000231134.5	+	1	1297	c.1080G>A	c.(1078-1080)ccG>ccA	p.P360P		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	360	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P360P(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAATGCCCCGGAAACTGTAG	0.502																																						uc003liq.3																			1	Substitution - coding silent(1)	p.P360P(2)	large_intestine(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(1078-1080)ccG>ccA		Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.							81.0	88.0	86.0					5																	140516096		2203	4300	6503	SO:0001819	synonymous_variant	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516096G>A	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1080G>A	5.37:g.140516096G>A			Somatic					p.P360P	NM_015669	NP_056484	WXS	Illumina GAIIx	Phase_I	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	1297	+			360			Cadherin 4.		Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	c.1080G>A	CCDS4247.1																																																																																				0.502	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		3	159	0	0	0	1	0	3	159				
TGFBR3	7049	broad.mit.edu	37	1	92262932	92262932	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr1:92262932G>A	ENST00000525962.1	-	2	219	c.158C>T	c.(157-159)gCc>gTc	p.A53V	TGFBR3_ENST00000212355.4_Missense_Mutation_p.A53V|TGFBR3_ENST00000370399.2_Missense_Mutation_p.A53V			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	53					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GCCTCTGCTGGCACAGCCTGA	0.602																																						uc001doh.3																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(157-159)gCc>gTc		Homo sapiens transforming growth factor, beta receptor III (TGFBR3), transcript variant 1, mRNA.							94.0	96.0	95.0					1																	92262932		2203	4300	6503	SO:0001583	missense	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	PDZ domain binding|SMAD binding|coreceptor activity|heparin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92262932G>A	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.158C>T	1.37:g.92262932G>A	ENSP00000436127:p.Ala53Val		Somatic				TGFBR3_uc009wde.3_5'UTR|TGFBR3_uc010osy.2_Missense_Mutation_p.A11V|TGFBR3_uc001doi.3_Missense_Mutation_p.A53V|TGFBR3_uc001doj.3_Missense_Mutation_p.A53V	p.A53V	NM_003243	NP_003234	WXS	Illumina GAIIx	Phase_I	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	2	673	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	53					A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	c.158C>T	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	G	31	5.093986	0.94149	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.46541	0.1398	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.24119	-1.0169	10	0.09084	T	0.74	-20.6722	20.0795	0.97766	0.0:0.0:1.0:0.0	.	53;53	Q03167-2;Q03167	.;TGBR3_HUMAN	V	53	ENSP00000212355:A53V;ENSP00000359426:A53V;ENSP00000436127:A53V;ENSP00000432638:A53V	ENSP00000212355:A53V	A	-	2	0	TGFBR3	92035520	1.000000	0.71417	1.000000	0.80357	0.602000	0.36980	8.916000	0.92745	2.747000	0.94245	0.650000	0.86243	GCC		0.602	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		5	280	0	0	0	1	0	5	280				
INF2	64423	broad.mit.edu	37	14	105175025	105175025	+	Silent	SNP	C	C	T			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr14:105175025C>T	ENST00000392634.4	+	10	2017	c.1905C>T	c.(1903-1905)gcC>gcT	p.A635A	INF2_ENST00000330634.7_Silent_p.A635A	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	635	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TCCTCGATGCCAAGAAGAGCC	0.622											OREG0022959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ypb.2																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(1903-1905)gcC>gcT		Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.							109.0	122.0	118.0					14																	105175025		1984	4167	6151	SO:0001819	synonymous_variant	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	Rho GTPase binding|actin binding	g.chr14:105175025C>T	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.1905C>T	14.37:g.105175025C>T			Somatic	OREG0022959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1387	INF2_uc001ypc.2_Silent_p.A635A|INF2_uc010awz.1_Non-coding_Transcript	p.A635A	NM_022489	NP_071934	WXS	Illumina GAIIx	Phase_I	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	9	2048	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	635			FH2.		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Silent	SNP	ENST00000392634.4	37	c.1905C>T	CCDS9989.2																																																																																				0.622	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		13	181	0	0	0	1	0	13	181				
AP2B1	163	broad.mit.edu	37	17	34009806	34009806	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr17:34009806G>A	ENST00000262325.7	+	17	2928	c.2375G>A	c.(2374-2376)gGc>gAc	p.G792D	AP2B1_ENST00000537622.2_Missense_Mutation_p.G806D|AP2B1_ENST00000312678.8_Missense_Mutation_p.G806D|AP2B1_ENST00000592545.1_Missense_Mutation_p.G768D|AP2B1_ENST00000538556.1_Missense_Mutation_p.G735D|AP2B1_ENST00000589344.1_Missense_Mutation_p.G806D|AP2B1_ENST00000545922.2_3'UTR|CTC-507E2.1_ENST00000588135.1_RNA	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	792					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AATACCTTGGGCCCAGTCATG	0.438																																						uc002hjq.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2416-2418)gGc>gAc		Homo sapiens adaptor-related protein complex 2, beta 1 subunit (AP2B1), transcript variant 1, mRNA.							99.0	85.0	89.0					17																	34009806		2203	4300	6503	SO:0001583	missense	163				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	g.chr17:34009806G>A	M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.2375G>A	17.37:g.34009806G>A	ENSP00000262325:p.Gly792Asp		Somatic				AP2B1_uc002hjr.3_Missense_Mutation_p.G792D|AP2B1_uc010wci.2_Missense_Mutation_p.G768D|AP2B1_uc002hjs.3_Missense_Mutation_p.G735D|AP2B1_uc002hjt.3_Missense_Mutation_p.G806D|AP2B1_uc010ctv.3_Missense_Mutation_p.G806D|AP2B1_uc010wcj.2_Missense_Mutation_p.G543D	p.G806D	NM_001030006	NP_001025177	WXS	Illumina GAIIx	Phase_I	P63010	AP2B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	17	2606	+		Ovarian(249;0.17)	792					A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	ENST00000262325.7	37	c.2417G>A	CCDS32622.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.001666	0.93227	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622;ENST00000545922	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.31	5.31	0.75309	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);Clathrin adaptor, beta-adaptin, appendage, Ig-like subdomain (1);	0.000000	0.85682	D	0.000000	T	0.70439	0.3224	M	0.87381	2.88	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.998;1.0	T	0.76179	-0.3054	10	0.72032	D	0.01	-11.4818	17.9619	0.89087	0.0:0.0:1.0:0.0	.	543;768;792;806	F5GYG9;B4DWG4;P63010;P63010-2	.;.;AP2B1_HUMAN;.	D	792;806;735;806;543	ENSP00000262325:G792D;ENSP00000314414:G806D;ENSP00000440563:G735D;ENSP00000437413:G806D	ENSP00000262325:G792D	G	+	2	0	AP2B1	31033919	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.668000	0.98619	2.483000	0.83821	0.650000	0.86243	GGC		0.438	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			4	137	0	0	0	1	0	4	137				
ATP6V0D1	9114	broad.mit.edu	37	16	67473189	67473189	+	Silent	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr16:67473189G>A	ENST00000290949.3	-	5	777	c.627C>T	c.(625-627)tgC>tgT	p.C209C	ATP6V0D1_ENST00000567694.1_5'UTR|ATP6V0D1_ENST00000602876.1_Silent_p.C132C|ATP6V0D1_ENST00000540149.1_Silent_p.C250C	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	209					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP hydrolysis coupled proton transport (GO:0015991)|brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|cellular protein metabolic process (GO:0044267)|cilium assembly (GO:0042384)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|synaptic vesicle (GO:0008021)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)			large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		CCAGGATGGGGCACATGGCAT	0.627																																						uc010vjo.1																			0				large_intestine(3)|lung(3)|urinary_tract(2)	8						c.(748-750)tgC>tgT		Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 (ATP6V0D1), mRNA.							73.0	61.0	65.0					16																	67473189		2198	4300	6498	SO:0001819	synonymous_variant	9114				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex		g.chr16:67473189G>A	X71490	CCDS10838.1	16q22	2010-04-21	2006-01-20	2002-05-10	ENSG00000159720	ENSG00000159720		"""ATPases / V-type"""	13724	protein-coding gene	gene with protein product		607028	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 1"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D1"""	ATP6D		8250920	Standard	NM_004691		Approved	ATP6DV, VATX, VPATPD, P39, Vma6	uc002ete.1	P61421	OTTHUMG00000137515	ENST00000290949.3:c.627C>T	16.37:g.67473189G>A			Somatic				ATP6V0D1_uc002ete.1_Silent_p.C209C|ATP6V0D1_uc010vjn.1_Silent_p.C132C	p.C250C	NM_004691	NP_004682	WXS	Illumina GAIIx	Phase_I	P61421	VA0D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)	5	850	-		Ovarian(137;0.0563)	209					P12953|Q02547	Silent	SNP	ENST00000290949.3	37	c.750C>T	CCDS10838.1																																																																																				0.627	ATP6V0D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268835.1	NM_004691		4	94	0	0	0	1	0	4	94				
CNTF	1270	broad.mit.edu	37	11	58390308	58390308	+	Missense_Mutation	SNP	G	G	A	rs139149169		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr11:58390308G>A	ENST00000361987.4	+	1	163	c.83G>A	c.(82-84)cGt>cAt	p.R28H	ZFP91-CNTF_ENST00000389919.4_3'UTR	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN	ciliary neurotrophic factor	28					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|growth (GO:0040007)|muscle organ morphogenesis (GO:0048644)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of photoreceptor cell differentiation (GO:0046533)|neuron development (GO:0048666)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of retinal cell programmed cell death (GO:0046668)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AGGAAGATTCGTTCAGACCTG	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		18782	0.0		0.001	False		,,,				2504	0.0					uc001nna.4																			0		p.R28C(1)		NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10						c.(82-84)cGt>cAt		Homo sapiens ciliary neurotrophic factor (CNTF), mRNA.		G	HIS/ARG	4,4398	6.2+/-15.9	0,4,2197	127.0	117.0	120.0		83	2.3	1.0	11	dbSNP_134	120	10,8580	7.7+/-29.5	0,10,4285	yes	missense	CNTF	NM_000614.3	29	0,14,6482	AA,AG,GG		0.1164,0.0909,0.1078	probably-damaging	28/201	58390308	14,12978	2201	4295	6496	SO:0001583	missense	1270				ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding	g.chr11:58390308G>A	BC068030	CCDS31554.1	11q12	2011-07-21			ENSG00000242689	ENSG00000242689			2169	protein-coding gene	gene with protein product		118945				1840538, 1714745	Standard	NM_000614		Approved	HCNTF	uc001nna.4	P26441	OTTHUMG00000137476	ENST00000361987.4:c.83G>A	11.37:g.58390308G>A	ENSP00000355370:p.Arg28His		Somatic				CNTF_uc010rkm.2_Non-coding_Transcript	p.R28H	NM_000614	NP_000605	WXS	Illumina GAIIx	Phase_I	P26441	CNTF_HUMAN			0	163	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	28					B2RAB2	Missense_Mutation	SNP	ENST00000361987.4	37	c.83G>A	CCDS31554.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.953376	0.53293	9.09E-4	0.001164	ENSG00000242689	ENST00000361987	T	0.46063	0.88	5.16	2.3	0.28687	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	.	.	.	.	T	0.39784	0.1091	M	0.67953	2.075	0.35143	D	0.769012	B	0.20459	0.045	B	0.18871	0.023	T	0.47129	-0.9141	9	0.72032	D	0.01	-12.4163	8.7308	0.34498	0.2424:0.0:0.7576:0.0	.	28	P26441	CNTF_HUMAN	H	28	ENSP00000355370:R28H	ENSP00000447778:R28H	R	+	2	0	CNTF	58146884	1.000000	0.71417	0.996000	0.52242	0.495000	0.33615	2.425000	0.44723	0.439000	0.26476	-0.126000	0.14955	CGT		0.483	CNTF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268673.1	NM_000614		13	49	0	0	0	1	0	13	49				
MYH15	22989	broad.mit.edu	37	3	108224618	108224618	+	Silent	SNP	T	T	C			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr3:108224618T>C	ENST00000273353.3	-	3	263	c.207A>G	c.(205-207)aaA>aaG	p.K69K		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	69						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.K69K(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTTCACTCCCTTTTACCTCAG	0.348																																						uc003dxa.1																			1	Substitution - coding silent(1)	p.K69K(2)|p.V68L(1)	endometrium(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(205-207)aaA>aaG		Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.							212.0	197.0	202.0					3																	108224618		1876	4133	6009	SO:0001819	synonymous_variant	22989					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	g.chr3:108224618T>C	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.207A>G	3.37:g.108224618T>C			Somatic					p.K69K	NM_014981	NP_055796	WXS	Illumina GAIIx	Phase_I	Q9Y2K3	MYH15_HUMAN			2	264	-			69			Myosin head-like.			Silent	SNP	ENST00000273353.3	37	c.207A>G	CCDS43127.1																																																																																				0.348	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		3	244	0	0	0	1	0	3	244				
GPRC5B	51704	broad.mit.edu	37	16	19883499	19883499	+	Silent	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr16:19883499G>A	ENST00000300571.2	-	2	860	c.669C>T	c.(667-669)tgC>tgT	p.C223C	GPRC5B_ENST00000569847.1_Silent_p.C223C|GPRC5B_ENST00000535671.1_Silent_p.C223C|GPRC5B_ENST00000537135.1_Silent_p.C249C|GPRC5B_ENST00000569479.1_Silent_p.C223C	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	223					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TGAACTTGCCGCACAGAGTGA	0.592																																						uc010vav.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(745-747)tgC>tgT		Homo sapiens G protein-coupled receptor, family C, group 5, member B (GPRC5B), mRNA.							129.0	114.0	119.0					16																	19883499		2197	4300	6497	SO:0001819	synonymous_variant	51704							g.chr16:19883499G>A	AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"""GPCR / Class C : Orphans"""	13308	protein-coding gene	gene with protein product		605948	"""G protein-coupled receptor, family C, group 1, member B"", ""G protein-coupled receptor, family C, group 5, member B"""			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.669C>T	16.37:g.19883499G>A			Somatic				GPRC5B_uc021tef.1_Silent_p.C215C|GPRC5B_uc002dgt.3_Silent_p.C223C	p.C249C	NM_016235	NP_057319	WXS	Illumina GAIIx	Phase_I	Q9NZH0	GPC5B_HUMAN			1	978	-			223					D2DFB0|O75205|Q8NBZ8	Silent	SNP	ENST00000300571.2	37	c.747C>T	CCDS10581.1																																																																																				0.592	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1			3	133	0	0	0	1	0	3	133				
CEP128	145508	broad.mit.edu	37	14	81251451	81251451	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr14:81251451C>T	ENST00000555265.1	-	15	2374	c.1999G>A	c.(1999-2001)Gac>Aac	p.D667N	CEP128_ENST00000281129.3_Missense_Mutation_p.D667N			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	667						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GCAGTGAGGTCAGAAAGGTCC	0.478																																						uc001xux.2																			0		p.D667V(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1999-2001)Gac>Aac		Homo sapiens centrosomal protein 128kDa (CEP128), mRNA.							232.0	186.0	202.0					14																	81251451		2203	4300	6503	SO:0001583	missense	145508					centriole|spindle pole		g.chr14:81251451C>T	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.1999G>A	14.37:g.81251451C>T	ENSP00000451162:p.Asp667Asn		Somatic				CEP128_uc010asz.2_Non-coding_Transcript	p.D667N	NM_152446	NP_689659	WXS	Illumina GAIIx	Phase_I	Q6ZU80	CE128_HUMAN			13	2170	-			667					B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	c.1999G>A	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.274203	0.40194	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619	T;T	0.38887	1.11;1.11	6.15	4.3	0.51218	.	0.126644	0.51477	D	0.000086	T	0.43366	0.1244	L	0.46157	1.445	0.80722	D	1	P	0.46142	0.873	B	0.43658	0.426	T	0.50709	-0.8796	10	0.66056	D	0.02	.	17.3776	0.87397	0.0:0.7658:0.2341:0.0	.	667	Q6ZU80	CE128_HUMAN	N	667	ENSP00000281129:D667N;ENSP00000451162:D667N	ENSP00000281129:D667N	D	-	1	0	CEP128	80321204	1.000000	0.71417	1.000000	0.80357	0.077000	0.17291	2.813000	0.48002	1.634000	0.50500	-0.134000	0.14843	GAC		0.478	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		43	160	0	0	0	1	0	43	160				
CD4	920	broad.mit.edu	37	12	6927643	6927643	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr12:6927643G>A	ENST00000011653.4	+	8	1471	c.1213G>A	c.(1213-1215)Gtc>Atc	p.V405I		NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	405					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	GCTGGGGGGCGTCGCCGGCCT	0.622																																						uc001qqv.2																			0		p.G404G(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23						c.(1213-1215)Gtc>Atc		Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.							81.0	76.0	78.0					12																	6927643		2203	4300	6503	SO:0001583	missense	920				T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	g.chr12:6927643G>A	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.1213G>A	12.37:g.6927643G>A	ENSP00000011653:p.Val405Ile		Somatic				CD4_uc010sfj.2_Missense_Mutation_p.V132I|CD4_uc009zfc.2_Missense_Mutation_p.V226I|CD4_uc010sfl.2_Missense_Mutation_p.V132I|CD4_uc010sfk.2_Missense_Mutation_p.V132I|CD4_uc010sfm.1_Missense_Mutation_p.V132I	p.V405I	NM_000616	NP_000607	WXS	Illumina GAIIx	Phase_I	P01730	CD4_HUMAN			7	1471	+		Myeloproliferative disorder(1001;0.0122)	405					B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Missense_Mutation	SNP	ENST00000011653.4	37	c.1213G>A	CCDS8562.1	.	.	.	.	.	.	.	.	.	.	G	0.464	-0.887456	0.02511	.	.	ENSG00000010610	ENST00000011653	T	0.22134	1.97	4.23	-7.83	0.01201	.	5.286540	0.00357	N	0.000031	T	0.07954	0.0199	N	0.12746	0.255	0.09310	N	0.999999	B;P	0.35226	0.024;0.491	B;B	0.22753	0.003;0.041	T	0.14504	-1.0470	10	0.19147	T	0.46	-6.7019	6.0682	0.19875	0.5671:0.0:0.1977:0.2352	.	226;405	B0AZV7;P01730	.;CD4_HUMAN	I	405	ENSP00000011653:V405I	ENSP00000011653:V405I	V	+	1	0	CD4	6797904	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.849000	0.01672	-2.457000	0.00539	-1.108000	0.02087	GTC		0.622	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		4	145	0	0	0	1	0	4	145				
PRRC1	133619	broad.mit.edu	37	5	126887496	126887496	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr5:126887496G>A	ENST00000296666.8	+	9	1414	c.1226G>A	c.(1225-1227)cGg>cAg	p.R409Q	PRRC1_ENST00000442138.2_3'UTR|PRRC1_ENST00000512635.2_Missense_Mutation_p.R409Q|PRRC1_ENST00000513427.1_3'UTR	NM_130809.3	NP_570721.1	Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	409						Golgi apparatus (GO:0005794)				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		AATGTCAGCCGGACTGATTGG	0.527																																						uc003kuk.3																			0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(1225-1227)cGg>cAg		Homo sapiens proline-rich coiled-coil 1 (PRRC1), mRNA.							99.0	99.0	99.0					5																	126887496		2203	4300	6503	SO:0001583	missense	133619					Golgi apparatus		g.chr5:126887496G>A	AJ515429	CCDS4143.1, CCDS68943.1	5q23.2	2008-02-05			ENSG00000164244	ENSG00000164244			28164	protein-coding gene	gene with protein product						15541471	Standard	NM_130809		Approved	FLJ32875	uc003kuk.3	Q96M27	OTTHUMG00000128982	ENST00000296666.8:c.1226G>A	5.37:g.126887496G>A	ENSP00000296666:p.Arg409Gln		Somatic				PRRC1_uc003kuj.4_3'UTR|PRRC1_uc021ydd.1_5'Flank	p.R409Q	NM_130809	NP_570721	WXS	Illumina GAIIx	Phase_I	Q96M27	PRRC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)	8	1406	+		Prostate(80;0.165)	409					Q69YM8|Q7L2U7|Q86Y42|Q8IVJ4|Q8IVL4|Q8NEZ7|Q96AJ3	Missense_Mutation	SNP	ENST00000296666.8	37	c.1226G>A	CCDS4143.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232150	0.79688	.	.	ENSG00000164244	ENST00000296666;ENST00000330542;ENST00000512635;ENST00000512535	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.49864	0.1582	L	0.48362	1.52	0.80722	D	1	B	0.33135	0.399	B	0.16722	0.016	T	0.50825	-0.8782	9	0.44086	T	0.13	-16.3773	18.2643	0.90048	0.0:0.0:1.0:0.0	.	409	Q96M27	PRRC1_HUMAN	Q	409	.	ENSP00000296666:R409Q	R	+	2	0	PRRC1	126915395	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.802000	0.85969	2.788000	0.95919	0.557000	0.71058	CGG		0.527	PRRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250971.3	NM_130809		3	115	0	0	0	1	0	3	115				
ADCY4	196883	broad.mit.edu	37	14	24798362	24798362	+	Silent	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr14:24798362G>A	ENST00000310677.4	-	11	1542	c.1429C>T	c.(1429-1431)Ctg>Ttg	p.L477L	ADCY4_ENST00000554068.2_Silent_p.L477L|ADCY4_ENST00000418030.2_Silent_p.L477L|ADCY4_ENST00000396747.3_Silent_p.L170L	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	477					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CGGGTCATCAGCAGTGATGGA	0.622																																						uc001wow.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1429-1431)Ctg>Ttg		Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.							132.0	122.0	125.0					14																	24798362		2203	4300	6503	SO:0001819	synonymous_variant	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding|protein binding	g.chr14:24798362G>A	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.1429C>T	14.37:g.24798362G>A			Somatic				ADCY4_uc010toh.2_Silent_p.L163L|ADCY4_uc001wox.3_Silent_p.L477L|ADCY4_uc001woy.3_Silent_p.L477L	p.L477L	NM_001198568	NP_001185497	WXS	Illumina GAIIx	Phase_I	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	9	1848	-			477					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	ENST00000310677.4	37	c.1429C>T	CCDS9627.1																																																																																				0.622	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			3	96	0	0	0	1	0	3	96				
OSBP	5007	broad.mit.edu	37	11	59377967	59377967	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	g.chr11:59377967T>C	ENST00000263847.1	-	2	937	c.458A>G	c.(457-459)aAt>aGt	p.N153S		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	153	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	oxysterol binding (GO:0008142)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		AGCACCCCCATTGGAAATGAT	0.537																																						uc001noc.1																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(457-459)aAt>aGt		Homo sapiens oxysterol binding protein (OSBP), mRNA.							169.0	150.0	156.0					11																	59377967		2201	4295	6496	SO:0001583	missense	5007				lipid transport	Golgi membrane	oxysterol binding	g.chr11:59377967T>C	AF185696	CCDS7974.1	11q12-q13	2013-01-10			ENSG00000110048	ENSG00000110048		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8503	protein-coding gene	gene with protein product		167040					Standard	NM_002556		Approved	OSBP1	uc001noc.1	P22059	OTTHUMG00000167422	ENST00000263847.1:c.458A>G	11.37:g.59377967T>C	ENSP00000263847:p.Asn153Ser		Somatic					p.N153S	NM_002556	NP_002547	WXS	Illumina GAIIx	Phase_I	P22059	OSBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	1	938	-		all_epithelial(135;0.000236)	153			PH.		Q6P524	Missense_Mutation	SNP	ENST00000263847.1	37	c.458A>G	CCDS7974.1	.	.	.	.	.	.	.	.	.	.	T	10.82	1.457043	0.26161	.	.	ENSG00000110048	ENST00000263847	T	0.75704	-0.96	5.68	4.56	0.56223	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.145690	0.64402	D	0.000008	T	0.61464	0.2349	N	0.11364	0.135	0.58432	D	0.999991	B	0.27286	0.174	B	0.42916	0.402	T	0.51733	-0.8668	10	0.07482	T	0.82	-25.4067	11.3214	0.49424	0.0:0.072:0.0:0.928	.	153	P22059	OSBP1_HUMAN	S	153	ENSP00000263847:N153S	ENSP00000263847:N153S	N	-	2	0	OSBP	59134543	1.000000	0.71417	0.989000	0.46669	0.669000	0.39330	6.290000	0.72712	0.979000	0.38497	-0.256000	0.11100	AAT		0.537	OSBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394555.1			41	119	0	0	0	1	0	41	119				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	a9220066-93f2-40a9-bf45-af0e2b0d07e6	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		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	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		29	134	0	0	0	1	0	29	134				
TMEM63A	9725	broad.mit.edu	37	1	226050509	226050509	+	Silent	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr1:226050509G>A	ENST00000366835.3	-	11	1059	c.789C>T	c.(787-789)tgC>tgT	p.C263C	TMEM63A_ENST00000474478.1_5'UTR|TMEM63A_ENST00000537914.1_5'UTR	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	263					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CCACGTTGTAGCACAGCTGCA	0.577																																						uc001hpm.2																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(787-789)tgC>tgT		Homo sapiens transmembrane protein 63A (TMEM63A), mRNA.							115.0	81.0	93.0					1																	226050509		2203	4300	6503	SO:0001819	synonymous_variant	9725					integral to membrane|lysosomal membrane	nucleotide binding	g.chr1:226050509G>A		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.789C>T	1.37:g.226050509G>A			Somatic					p.C263C	NM_014698	NP_055513	WXS	Illumina GAIIx	Phase_I	O94886	TM63A_HUMAN			10	1411	-	Breast(184;0.197)		263					Q53GI7|Q5TE96|Q8N2U2	Silent	SNP	ENST00000366835.3	37	c.789C>T	CCDS31042.1																																																																																				0.577	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698		3	79	0	0	0	1	0	3	79				
FAM111B	374393	broad.mit.edu	37	11	58892674	58892674	+	Silent	SNP	G	G	A	rs371989300		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr11:58892674G>A	ENST00000343597.3	+	4	1295	c.1104G>A	c.(1102-1104)ccG>ccA	p.P368P	FAM111B_ENST00000529618.1_Silent_p.P338P|FAM111B_ENST00000411426.1_Silent_p.P338P	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	368							catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						GACGGAGGCCGCATCTGGGTA	0.383																																						uc001nnl.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						c.(1102-1104)ccG>ccA		Homo sapiens family with sequence similarity 111, member B (FAM111B), transcript variant 1, mRNA.		G	,,	1,4401	2.1+/-5.4	0,1,2200	68.0	75.0	73.0		1014,1014,1104	-0.8	0.0	11		73	0,8588		0,0,4294	no	coding-synonymous,coding-synonymous,coding-synonymous	FAM111B	NM_001142703.1,NM_001142704.1,NM_198947.3	,,	0,1,6494	AA,AG,GG		0.0,0.0227,0.0077	,,	338/705,338/705,368/735	58892674	1,12989	2201	4294	6495	SO:0001819	synonymous_variant	374393						catalytic activity	g.chr11:58892674G>A	BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.1104G>A	11.37:g.58892674G>A			Somatic				FAM111B_uc001nnm.3_Silent_p.P338P|FAM111B_uc010rko.2_Silent_p.P338P|FAM111B_uc021qjn.1_Silent_p.P338P	p.P368P	NM_198947	NP_001136176	WXS	Illumina GAIIx	Phase_I	Q6SJ93	F111B_HUMAN			3	1347	+			368					B4E2G2|Q6P661	Silent	SNP	ENST00000343597.3	37	c.1104G>A	CCDS7972.1																																																																																				0.383	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947		4	229	0	0	0	1	0	4	229				
PCNXL4	64430	broad.mit.edu	37	14	60591629	60591629	+	Missense_Mutation	SNP	G	G	A	rs141333786		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr14:60591629G>A	ENST00000406854.1	+	9	3294	c.2740G>A	c.(2740-2742)Gca>Aca	p.A914T	PCNXL4_ENST00000404681.2_Missense_Mutation_p.A914T|PCNXL4_ENST00000317623.4_Missense_Mutation_p.A680T|PCNXL4_ENST00000535349.1_Missense_Mutation_p.A121T|PCNXL4_ENST00000406949.1_Missense_Mutation_p.A680T			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	914						integral component of membrane (GO:0016021)											ATGCTTACCCGCAGAGTGGAG	0.433																																						uc001xer.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	18						c.(2038-2040)Gca>Aca		Homo sapiens chromosome 14 open reading frame 135 (C14orf135), mRNA.		G	THR/ALA	0,4406		0,0,2203	105.0	110.0	109.0		2038	2.1	0.9	14	dbSNP_134	109	1,8599	1.2+/-3.3	0,1,4299	no	missense	C14orf135	NM_022495.5	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	680/939	60591629	1,13005	2203	4300	6503	SO:0001583	missense	64430					integral to membrane		g.chr14:60591629G>A	AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.2740G>A	14.37:g.60591629G>A	ENSP00000384801:p.Ala914Thr		Somatic				C14orf135_uc001xeq.2_Missense_Mutation_p.A680T|C14orf135_uc010apm.3_Non-coding_Transcript	p.A680T	NM_022495	NP_071940	WXS	Illumina GAIIx	Phase_I	Q63HM2	CN135_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.127)	7	2560	+		Myeloproliferative disorder(585;0.163)	914					A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	ENST00000406854.1	37	c.2038G>A		.	.	.	.	.	.	.	.	.	.	G	6.817	0.519841	0.13005	0.0	1.16E-4	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681;ENST00000535349	T;T;T;T;T	0.29397	1.99;1.99;1.99;1.99;1.57	4.99	2.08	0.27032	.	0.485632	0.24740	N	0.035983	T	0.10809	0.0264	N	0.08118	0	0.19300	N	0.999974	B;B	0.32620	0.065;0.378	B;B	0.19148	0.002;0.024	T	0.28586	-1.0039	10	0.15952	T	0.53	.	7.0604	0.25123	0.1459:0.2644:0.5897:0.0	.	914;680	Q63HM2;B5MC47	CN135_HUMAN;.	T	680;914;680;914;121	ENSP00000317396:A680T;ENSP00000384801:A914T;ENSP00000385201:A680T;ENSP00000385713:A914T;ENSP00000445644:A121T	ENSP00000317396:A680T	A	+	1	0	C14orf135	59661382	0.980000	0.34600	0.924000	0.36721	0.710000	0.40934	1.970000	0.40520	0.210000	0.20664	0.305000	0.20034	GCA		0.433	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		4	217	0	0	0	1	0	4	217				
ZNF770	54989	broad.mit.edu	37	15	35274879	35274879	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr15:35274879G>A	ENST00000356321.4	-	3	1101	c.757C>T	c.(757-759)Cgt>Tgt	p.R253C		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	253					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		GATTCTGTACGCCTCTTCTTT	0.368																																						uc001ziw.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29						c.(757-759)Cgt>Tgt		Homo sapiens zinc finger protein 770 (ZNF770), mRNA.							41.0	43.0	42.0					15																	35274879		2201	4298	6499	SO:0001583	missense	54989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:35274879G>A	BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"""Zinc fingers, C2H2-type"""	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.757C>T	15.37:g.35274879G>A	ENSP00000348673:p.Arg253Cys		Somatic				ZNF770_uc021siy.1_Missense_Mutation_p.R253C	p.R253C	NM_014106	NP_054825	WXS	Illumina GAIIx	Phase_I	Q6IQ21	ZN770_HUMAN		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)	2	1111	-		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)	253					Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	37	c.757C>T	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	G	2.255	-0.370584	0.05069	.	.	ENSG00000198146	ENST00000356321	T	0.10099	2.91	5.17	4.05	0.47172	.	0.463790	0.19982	U	0.101745	T	0.05640	0.0148	N	0.08118	0	0.19945	N	0.999941	P	0.51653	0.947	B	0.38296	0.27	T	0.20273	-1.0280	10	0.87932	D	0	-0.0212	11.4796	0.50318	0.0:0.0:0.1582:0.8418	.	253	Q6IQ21	ZN770_HUMAN	C	253	ENSP00000348673:R253C	ENSP00000348673:R253C	R	-	1	0	ZNF770	33062171	0.862000	0.29867	0.023000	0.16930	0.042000	0.13812	1.419000	0.34793	0.991000	0.38814	-0.262000	0.10625	CGT		0.368	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		3	59	0	0	0	1	0	3	59				
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A	rs558808115		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr4:146059006G>A	ENST00000447906.2	-	21	3108	c.2921C>T	c.(2920-2922)aCt>aTt	p.T974I	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Missense_Mutation_p.T909I			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	974					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463																																						uc003ika.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2725-2727)aCt>aTt		Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.							128.0	133.0	131.0					4																	146059006		2203	4300	6503	SO:0001583	missense	54726						protein binding	g.chr4:146059006G>A		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2921C>T	4.37:g.146059006G>A	ENSP00000395487:p.Thr974Ile		Somatic					p.T909I	NM_001102653	NP_001096123	WXS	Illumina GAIIx	Phase_I	Q01804	OTUD4_HUMAN			20	2864	-	all_hematologic(180;0.151)		973					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37	c.2726C>T		.	.	.	.	.	.	.	.	.	.	G	13.28	2.191504	0.38707	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.34275	1.37;1.37	6.17	5.33	0.75918	.	1.059000	0.07258	N	0.867023	T	0.32793	0.0841	N	0.24115	0.695	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.14023	0.01;0.004	T	0.02275	-1.1184	10	0.59425	D	0.04	-0.3286	15.5098	0.75772	0.0658:0.0:0.9342:0.0	.	974;973	G3V0I6;Q01804	.;OTUD4_HUMAN	I	909;974	ENSP00000409279:T909I;ENSP00000395487:T974I	ENSP00000395487:T974I	T	-	2	0	OTUD4	146278456	0.027000	0.19231	0.108000	0.21378	0.880000	0.50808	2.210000	0.42816	1.621000	0.50320	0.655000	0.94253	ACT		0.463	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		4	240	0	0	0	1	0	4	240				
RTEL1	51750	broad.mit.edu	37	20	62324212	62324212	+	Missense_Mutation	SNP	G	G	A	rs143317975		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr20:62324212G>A	ENST00000360203.5	+	29	3032	c.2707G>A	c.(2707-2709)Gtg>Atg	p.V903M	RTEL1_ENST00000370003.1_Missense_Mutation_p.V148M|RTEL1_ENST00000318100.4_Missense_Mutation_p.V903M|RTEL1_ENST00000370018.3_Missense_Mutation_p.V903M|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.V903M|RTEL1_ENST00000508582.2_Missense_Mutation_p.V927M					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CATGGTGGCCGTGAAGCAGGA	0.642																																						uc021wge.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2707-2709)Gtg>Atg		Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.		G	MET/VAL,MET/VAL	0,4392		0,0,2196	86.0	78.0	80.0		2707,2779	4.6	0.9	20	dbSNP_134	80	1,8581	1.2+/-3.3	0,1,4290	no	missense,missense	RTEL1	NM_016434.3,NM_032957.4	21,21	0,1,6486	AA,AG,GG		0.0117,0.0,0.0077	possibly-damaging,possibly-damaging	903/1220,927/1244	62324212	1,12973	2196	4291	6487	SO:0001583	missense	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62324212G>A	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.2707G>A	20.37:g.62324212G>A	ENSP00000353332:p.Val903Met		Somatic				RTEL1_uc011abc.2_Non-coding_Transcript|RTEL1_uc002yfu.2_Missense_Mutation_p.V903M|RTEL1_uc011abd.2_Missense_Mutation_p.V927M|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc011abe.1_Missense_Mutation_p.V680M|RTEL1_uc002yfx.1_Missense_Mutation_p.V148M|TNFRSF6B_uc002yfy.3_5'Flank|TNFRSF6B_uc002yfz.3_5'Flank	p.V903M	NM_016434	NP_057518	WXS	Illumina GAIIx	Phase_I	Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		27	2877	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		903						Missense_Mutation	SNP	ENST00000360203.5	37	c.2707G>A		.	.	.	.	.	.	.	.	.	.	G	14.86	2.660166	0.47572	0.0	1.17E-4	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000370003	T;T;T;T;T	0.10763	2.84;2.84;2.84;2.84;2.84	4.59	4.59	0.56863	.	0.111999	0.64402	D	0.000010	T	0.31009	0.0783	L	0.61387	1.9	0.39435	D	0.967157	D;D;D;D	0.89917	0.968;1.0;0.991;0.975	P;D;P;P	0.91635	0.714;0.999;0.791;0.742	T	0.05835	-1.0861	10	0.56958	D	0.05	-27.1972	16.5163	0.84301	0.0:0.0:1.0:0.0	.	927;148;903;903	Q9NZ71-7;Q9NZ71-5;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	M	903;903;927;903;148	ENSP00000359035:V903M;ENSP00000322287:V903M;ENSP00000424307:V927M;ENSP00000353332:V903M;ENSP00000359020:V148M	ENSP00000353332:V903M	V	+	1	0	AL353715.1	61794656	1.000000	0.71417	0.939000	0.37840	0.343000	0.28985	3.355000	0.52262	2.271000	0.75665	0.442000	0.29010	GTG		0.642	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		3	137	0	0	0	1	0	3	137				
LEMD3	23592	broad.mit.edu	37	12	65564560	65564560	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr12:65564560G>A	ENST00000308330.2	+	1	1210	c.1184G>A	c.(1183-1185)gGt>gAt	p.G395D	LEMD3_ENST00000541171.1_Intron	NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	395					negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		CATATTGGCGGTGGGGCCTTC	0.537																																						uc001ssl.2																			0				breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1183-1185)gGt>gAt		Homo sapiens LEM domain containing 3 (LEMD3), transcript variant 1, mRNA.							62.0	71.0	68.0					12																	65564560		2203	4300	6503	SO:0001583	missense	23592				negative regulation of BMP signaling pathway|negative regulation of activin receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding	g.chr12:65564560G>A	AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.1184G>A	12.37:g.65564560G>A	ENSP00000308369:p.Gly395Asp		Somatic				LEMD3_uc009zqo.2_Missense_Mutation_p.G395D	p.G395D	NM_014319	NP_055134	WXS	Illumina GAIIx	Phase_I	Q9Y2U8	MAN1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)	0	1210	+			395					Q9NT47|Q9NYA5	Missense_Mutation	SNP	ENST00000308330.2	37	c.1184G>A	CCDS8972.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.997963	0.35226	.	.	ENSG00000174106	ENST00000308330	T	0.51817	0.69	3.96	3.04	0.35103	.	0.413267	0.21710	N	0.070297	T	0.29945	0.0749	N	0.19112	0.55	0.29690	N	0.841036	B	0.27559	0.181	B	0.21151	0.033	T	0.14896	-1.0456	9	.	.	.	-1.5237	13.0416	0.58901	0.0:0.164:0.836:0.0	.	395	Q9Y2U8	MAN1_HUMAN	D	395	ENSP00000308369:G395D	.	G	+	2	0	LEMD3	63850827	1.000000	0.71417	0.896000	0.35187	0.803000	0.45373	4.204000	0.58460	1.203000	0.43233	0.462000	0.41574	GGT		0.537	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2			4	180	0	0	0	1	0	4	180				
IGHE	3497	broad.mit.edu	37	14	106067926	106067926	+	lincRNA	SNP	G	G	A	rs375096440		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr14:106067926G>A	ENST00000390540.2	-	0	459				AL928742.12_ENST00000412518.1_lincRNA|IGHE_ENST00000576077.1_RNA|IGHE_ENST00000577108.1_RNA																							CCCGTTGAGGGAGCCTGTGTC	0.612																																						uc001yrw.1																			0											c.(181-183)tCc>tTc		RecName: Full=Ig epsilon chain C region;		G		1,4287		0,1,2143	127.0	141.0	136.0			2.8	0.1	14		136	0,8460		0,0,4230	no	intergenic				0,1,6373	AA,AG,GG		0.0,0.0233,0.0078			106067926	1,12747	2144	4230	6374			3497							g.chr14:106067926G>A																													14.37:g.106067926G>A			Somatic				abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_Missense_Mutation_p.S8F|IGHE_uc001yru.2_5'Flank	p.S61F			WXS	Illumina GAIIx	Phase_I					1	194	-									Missense_Mutation	SNP	ENST00000390540.2	37	c.182C>T																																																																																					0.612	RP11-731F5.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000380286.1			3	105	0	0	0	1	0	3	105				
ZFYVE9	9372	broad.mit.edu	37	1	52703746	52703746	+	Silent	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr1:52703746G>A	ENST00000371591.1	+	3	788	c.657G>A	c.(655-657)ccG>ccA	p.P219P	ZFYVE9_ENST00000287727.3_Silent_p.P219P|ZFYVE9_ENST00000357206.2_Silent_p.P219P	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	219					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TGAATAGACCGAAAACAGAGG	0.363																																						uc001cto.3																			0				breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						c.(655-657)ccG>ccA		Homo sapiens zinc finger, FYVE domain containing 9 (ZFYVE9), transcript variant 3, mRNA.							85.0	88.0	87.0					1																	52703746		2203	4300	6503	SO:0001819	synonymous_variant	9372				SMAD protein complex assembly|SMAD protein import into nucleus|endocytosis|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52703746G>A	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.657G>A	1.37:g.52703746G>A			Somatic				ZFYVE9_uc001ctn.3_Silent_p.P219P|ZFYVE9_uc001ctp.3_Silent_p.P219P	p.P219P	NM_004799	NP_004790	WXS	Illumina GAIIx	Phase_I	O95405	ZFYV9_HUMAN			3	829	+			219					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Silent	SNP	ENST00000371591.1	37	c.657G>A	CCDS563.1																																																																																				0.363	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		4	237	0	0	0	1	0	4	237				
HGFAC	3083	broad.mit.edu	37	4	3443797	3443797	+	Silent	SNP	C	C	G	rs538844201	byFrequency	TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr4:3443797C>G	ENST00000382774.3	+	1	184	c.69C>G	c.(67-69)ctC>ctG	p.L23L	HGFAC_ENST00000511533.1_Silent_p.L23L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	23					proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCCTCCTCCTCCTGCTGCTGC	0.716													C|||	2	0.000399361	0.0008	0.0	5008	,	,		13350	0.0		0.0	False		,,,				2504	0.001					uc010icw.3																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(67-69)ctC>ctG		Homo sapiens HGF activator (HGFAC), mRNA.							13.0	16.0	15.0					4																	3443797		1723	3604	5327	SO:0001819	synonymous_variant	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3443797C>G	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.69C>G	4.37:g.3443797C>G			Somatic				HGFAC_uc003ghc.3_Silent_p.L23L	p.L23L	NM_001528	NP_001519	WXS	Illumina GAIIx	Phase_I	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	0	72	+			23					Q14726|Q2M1W7|Q53X47	Silent	SNP	ENST00000382774.3	37	c.69C>G	CCDS3369.1																																																																																				0.716	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			3	46	0	0	0	1	0	3	46				
SETX	23064	broad.mit.edu	37	9	135173645	135173645	+	Missense_Mutation	SNP	G	G	A	rs370368422		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr9:135173645G>A	ENST00000224140.5	-	13	5785	c.5603C>T	c.(5602-5604)cCg>cTg	p.P1868L	SETX_ENST00000393220.1_Missense_Mutation_p.P1868L|SETX_ENST00000372169.2_Missense_Mutation_p.P1868L	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1868					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TAAATTGGCCGGAAAGTTCTC	0.388																																						uc004cbk.3																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(5602-5604)cCg>cTg		Homo sapiens senataxin (SETX), mRNA.		G	LEU/PRO	0,4406		0,0,2203	98.0	95.0	96.0		5603	5.7	0.1	9		96	1,8599	1.2+/-3.3	0,1,4299	no	missense	SETX	NM_015046.5	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1868/2678	135173645	1,13005	2203	4300	6503	SO:0001583	missense	23064				RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135173645G>A	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.5603C>T	9.37:g.135173645G>A	ENSP00000224140:p.Pro1868Leu		Somatic				SETX_uc004cbj.3_Missense_Mutation_p.P1487L|SETX_uc010mzt.3_Missense_Mutation_p.P1487L	p.P1868L	NM_015046	NP_055861	WXS	Illumina GAIIx	Phase_I	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	12	5786	-		Myeloproliferative disorder(178;0.204)	1868					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.5603C>T	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471479	0.63737	0.0	1.16E-4	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.90197	-2.08;-2.63;-2.17;-1.8	5.72	5.72	0.89469	.	0.189487	0.37219	N	0.002192	D	0.88724	0.6514	L	0.29908	0.895	0.37388	D	0.912315	B;D;D	0.63880	0.042;0.987;0.993	B;P;P	0.51079	0.019;0.456;0.658	D	0.87891	0.2684	10	0.23302	T	0.38	.	16.5947	0.84792	0.0:0.0:1.0:0.0	.	1868;1868;1868	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	L	1868;110;1868;1868	ENSP00000224140:P1868L;ENSP00000409143:P110L;ENSP00000361242:P1868L;ENSP00000376913:P1868L	ENSP00000224140:P1868L	P	-	2	0	SETX	134163466	0.589000	0.26807	0.092000	0.20876	0.761000	0.43186	2.864000	0.48404	2.696000	0.92011	0.591000	0.81541	CCG		0.388	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		3	106	0	0	0	1	0	3	106				
CTTNBP2	83992	broad.mit.edu	37	7	117368303	117368303	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr7:117368303A>G	ENST00000160373.3	-	17	3986	c.3895T>C	c.(3895-3897)Tcc>Ccc	p.S1299P		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1299					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TCGCAGGGGGAGGGCGCCTGA	0.512																																						uc003vjf.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(3895-3897)Tcc>Ccc		Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.							79.0	90.0	86.0					7																	117368303		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117368303A>G		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.3895T>C	7.37:g.117368303A>G	ENSP00000160373:p.Ser1299Pro		Somatic					p.S1299P	NM_033427	NP_219499	WXS	Illumina GAIIx	Phase_I	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	16	3987	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		1299					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.3895T>C	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.572|7.572	0.666994|0.666994	0.14710|0.14710	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000446636|ENST00000160373	.|D	.|0.90788	.|-2.73	5.22|5.22	1.42|1.42	0.22433|0.22433	.|.	.|0.446324	.|0.26143	.|N	.|0.026099	D|D	0.85526|0.85526	0.5717|0.5717	L|L	0.58669|0.58669	1.825|1.825	0.23515|0.23515	N|N	0.997519|0.997519	.|B	.|0.11235	.|0.004	.|B	.|0.10450	.|0.005	T|T	0.74466|0.74466	-0.3656|-0.3656	5|10	.|0.46703	.|T	.|0.11	22.8976|22.8976	5.3613|5.3613	0.16089|0.16089	0.4928:0.3126:0.1945:0.0|0.4928:0.3126:0.1945:0.0	.|.	.|1299	.|Q8WZ74	.|CTTB2_HUMAN	P|P	786|1299	.|ENSP00000160373:S1299P	.|ENSP00000160373:S1299P	L|S	-|-	2|1	0|0	CTTNBP2|CTTNBP2	117155539|117155539	0.997000|0.997000	0.39634|0.39634	0.176000|0.176000	0.23000|0.23000	0.378000|0.378000	0.30076|0.30076	1.390000|1.390000	0.34464|0.34464	0.053000|0.053000	0.16036|0.16036	-0.280000|-0.280000	0.10049|0.10049	CTC|TCC		0.512	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		3	237	0	0	0	1	0	3	237				
GIMAP8	155038	broad.mit.edu	37	7	150163814	150163814	+	Missense_Mutation	SNP	G	G	A	rs143529569		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr7:150163814G>A	ENST00000307271.3	+	2	602	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	10	AIG1-type G 1.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.E10K(2)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CCAGATGTCCGAACTGCGGCT	0.507																																						uc003whj.3																			2	Substitution - Missense(2)	p.E10K(4)	large_intestine(1)|skin(1)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62						c.(28-30)Gaa>Aaa		Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.							48.0	51.0	50.0					7																	150163814		2203	4300	6503	SO:0001583	missense	155038					Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding	g.chr7:150163814G>A	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.28G>A	7.37:g.150163814G>A	ENSP00000305107:p.Glu10Lys		Somatic					p.E10K	NM_175571	NP_783161	WXS	Illumina GAIIx	Phase_I	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	1	358	+			10						Missense_Mutation	SNP	ENST00000307271.3	37	c.28G>A	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271644	0.59649	.	.	ENSG00000171115	ENST00000307271	T	0.61274	0.12	4.48	-5.23	0.02798	.	1.488750	0.04286	N	0.344696	T	0.49541	0.1563	L	0.50847	1.595	0.09310	N	1	D	0.67145	0.996	P	0.49683	0.619	T	0.50676	-0.8800	10	0.18710	T	0.47	.	1.8855	0.03237	0.3116:0.3671:0.1974:0.1239	.	10	Q8ND71	GIMA8_HUMAN	K	10	ENSP00000305107:E10K	ENSP00000305107:E10K	E	+	1	0	GIMAP8	149794747	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.230000	0.17852	-1.051000	0.03226	-0.844000	0.03045	GAA		0.507	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		3	99	0	0	0	1	0	3	99				
OR6C3	254786	broad.mit.edu	37	12	55725701	55725701	+	Missense_Mutation	SNP	G	G	A	rs139430640	byFrequency	TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr12:55725701G>A	ENST00000379667.1	+	1	217	c.217G>A	c.(217-219)Gta>Ata	p.V73I		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	73					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						ATTTACAACCGTATGCATCCC	0.428																																						uc010spj.2																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						c.(217-219)Gta>Ata		Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA.			ILE/VAL	0,4406		0,0,2203	95.0	105.0	102.0		217	4.1	0.4	12	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR6C3	NM_054104.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	73/312	55725701	1,13005	2203	4300	6503	SO:0001583	missense	254786				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55725701G>A	AF179770	CCDS31819.1	12q13.2	2013-09-23			ENSG00000205329	ENSG00000205329		"""GPCR / Class A : Olfactory receptors"""	15437	protein-coding gene	gene with protein product							Standard	NM_054104		Approved	OST709	uc010spj.2	Q9NZP0	OTTHUMG00000169861	ENST00000379667.1:c.217G>A	12.37:g.55725701G>A	ENSP00000368989:p.Val73Ile		Somatic					p.V73I	NM_054104	NP_473445	WXS	Illumina GAIIx	Phase_I	Q9NZP0	OR6C3_HUMAN			0	217	+			73						Missense_Mutation	SNP	ENST00000379667.1	37	c.217G>A	CCDS31819.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.446486	0.43429	0.0	1.16E-4	ENSG00000205329	ENST00000379667	T	0.01234	5.13	5.02	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.158118	0.29424	N	0.012191	T	0.02047	0.0064	L	0.45581	1.43	0.09310	N	1	D	0.54772	0.968	P	0.46629	0.522	T	0.49303	-0.8954	10	0.49607	T	0.09	.	6.1286	0.20194	0.1514:0.0:0.6839:0.1648	.	73	Q9NZP0	OR6C3_HUMAN	I	73	ENSP00000368989:V73I	ENSP00000368989:V73I	V	+	1	0	OR6C3	54011968	0.000000	0.05858	0.410000	0.26471	0.610000	0.37248	0.690000	0.25451	2.771000	0.95319	0.461000	0.40582	GTA		0.428	OR6C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406309.1			4	149	0	0	0	1	0	4	149				
KCNC4	3749	broad.mit.edu	37	1	110754255	110754255	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr1:110754255C>T	ENST00000369787.3	+	1	161	c.134C>T	c.(133-135)aCg>aTg	p.T45M	KCNC4_ENST00000413138.3_Missense_Mutation_p.T45M|KCNC4-AS1_ENST00000455967.1_RNA|KCNC4_ENST00000438661.2_Missense_Mutation_p.T45M	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	45					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTGGGCGGCACGCGACATGAG	0.682																																						uc009wfr.3																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32						c.(133-135)aCg>aTg		Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 4 (KCNC4), transcript variant 3, mRNA.							53.0	52.0	52.0					1																	110754255		2203	4300	6503	SO:0001583	missense	3749				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr1:110754255C>T	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6236	protein-coding gene	gene with protein product		176265	"""chromosome 1 open reading frame 30"""	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.134C>T	1.37:g.110754255C>T	ENSP00000358802:p.Thr45Met		Somatic				KCNC4_uc001dzf.3_Missense_Mutation_p.T45M|KCNC4_uc001dzh.3_Missense_Mutation_p.T45M|KCNC4_uc001dzi.3_Non-coding_Transcript|KCNC4_uc001dzg.3_Missense_Mutation_p.T45M	p.T45M	NM_001039574	NP_001034663	WXS	Illumina GAIIx	Phase_I	Q03721	KCNC4_HUMAN		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)	0	920	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	45					Q3MIM4|Q5TBI6	Missense_Mutation	SNP	ENST00000369787.3	37	c.134C>T	CCDS821.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.390136	0.42410	.	.	ENSG00000116396	ENST00000369787;ENST00000413138;ENST00000438661	T;T;T	0.77489	-1.1;-1.1;-1.1	4.02	3.1	0.35709	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.77824	0.4188	L	0.49778	1.585	0.49582	D	0.999805	P;P;D	0.76494	0.67;0.619;0.999	B;B;D	0.68039	0.283;0.119;0.955	T	0.79988	-0.1571	10	0.66056	D	0.02	.	10.6474	0.45628	0.0:0.9034:0.0:0.0966	.	45;45;45	Q03721;Q03721-3;Q03721-2	KCNC4_HUMAN;.;.	M	45	ENSP00000358802:T45M;ENSP00000388029:T45M;ENSP00000393655:T45M	ENSP00000358802:T45M	T	+	2	0	KCNC4	110555778	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.794000	0.69067	1.800000	0.52685	0.462000	0.41574	ACG		0.682	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		3	67	0	0	0	1	0	3	67				
MEFV	4210	broad.mit.edu	37	16	3304298	3304298	+	Missense_Mutation	SNP	G	G	A	rs201025181		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr16:3304298G>A	ENST00000219596.1	-	2	809	c.770C>T	c.(769-771)cCa>cTa	p.P257L	MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron|MEFV_ENST00000541159.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	257					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GAGAATTTCTGGATTTGCGGG	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		13560	0.001		0.0	False		,,,				2504	0.0					uc002cun.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(769-771)cCa>cTa		Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	Colchicine(DB01394)						116.0	132.0	127.0					16																	3304298		2197	4300	6497	SO:0001583	missense	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3304298G>A	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.770C>T	16.37:g.3304298G>A	ENSP00000219596:p.Pro257Leu		Somatic				MEFV_uc021tbw.1_Intron|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_Intron	p.P257L	NM_000243	NP_000234	WXS	Illumina GAIIx	Phase_I	O15553	MEFV_HUMAN			1	810	-			257					D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	c.770C>T	CCDS10498.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	12.80	2.045150	0.36085	.	.	ENSG00000103313	ENST00000545159;ENST00000219596	T	0.70631	-0.5	5.31	3.3	0.37823	.	0.840199	0.10448	N	0.673403	T	0.69043	0.3067	L	0.48642	1.525	0.09310	N	0.99999	D	0.56521	0.976	P	0.48524	0.58	T	0.57963	-0.7720	10	0.87932	D	0	-16.218	8.8325	0.35093	0.0:0.1631:0.6679:0.1691	.	257	O15553	MEFV_HUMAN	L	257	ENSP00000219596:P257L	ENSP00000219596:P257L	P	-	2	0	MEFV	3244299	0.247000	0.23920	0.002000	0.10522	0.137000	0.21094	1.308000	0.33528	0.835000	0.34877	0.655000	0.94253	CCA		0.577	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		48	178	0	0	0	1	0	48	178				
PCDHB5	26167	broad.mit.edu	37	5	140516096	140516096	+	Silent	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr5:140516096G>A	ENST00000231134.5	+	1	1297	c.1080G>A	c.(1078-1080)ccG>ccA	p.P360P		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	360	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P360P(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAATGCCCCGGAAACTGTAG	0.502																																						uc003liq.3																			1	Substitution - coding silent(1)	p.P360P(2)	large_intestine(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(1078-1080)ccG>ccA		Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.							81.0	88.0	86.0					5																	140516096		2203	4300	6503	SO:0001819	synonymous_variant	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516096G>A	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1080G>A	5.37:g.140516096G>A			Somatic					p.P360P	NM_015669	NP_056484	WXS	Illumina GAIIx	Phase_I	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	1297	+			360			Cadherin 4.		Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	c.1080G>A	CCDS4247.1																																																																																				0.502	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		3	159	0	0	0	1	0	3	159				
TGFBR3	7049	broad.mit.edu	37	1	92262932	92262932	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr1:92262932G>A	ENST00000525962.1	-	2	219	c.158C>T	c.(157-159)gCc>gTc	p.A53V	TGFBR3_ENST00000212355.4_Missense_Mutation_p.A53V|TGFBR3_ENST00000370399.2_Missense_Mutation_p.A53V			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	53					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GCCTCTGCTGGCACAGCCTGA	0.602																																						uc001doh.3																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(157-159)gCc>gTc		Homo sapiens transforming growth factor, beta receptor III (TGFBR3), transcript variant 1, mRNA.							94.0	96.0	95.0					1																	92262932		2203	4300	6503	SO:0001583	missense	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	PDZ domain binding|SMAD binding|coreceptor activity|heparin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92262932G>A	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.158C>T	1.37:g.92262932G>A	ENSP00000436127:p.Ala53Val		Somatic				TGFBR3_uc009wde.3_5'UTR|TGFBR3_uc010osy.2_Missense_Mutation_p.A11V|TGFBR3_uc001doi.3_Missense_Mutation_p.A53V|TGFBR3_uc001doj.3_Missense_Mutation_p.A53V	p.A53V	NM_003243	NP_003234	WXS	Illumina GAIIx	Phase_I	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	2	673	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	53					A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	c.158C>T	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	G	31	5.093986	0.94149	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.46541	0.1398	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.24119	-1.0169	10	0.09084	T	0.74	-20.6722	20.0795	0.97766	0.0:0.0:1.0:0.0	.	53;53	Q03167-2;Q03167	.;TGBR3_HUMAN	V	53	ENSP00000212355:A53V;ENSP00000359426:A53V;ENSP00000436127:A53V;ENSP00000432638:A53V	ENSP00000212355:A53V	A	-	2	0	TGFBR3	92035520	1.000000	0.71417	1.000000	0.80357	0.602000	0.36980	8.916000	0.92745	2.747000	0.94245	0.650000	0.86243	GCC		0.602	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		5	280	0	0	0	1	0	5	280				
INF2	64423	broad.mit.edu	37	14	105175025	105175025	+	Silent	SNP	C	C	T			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr14:105175025C>T	ENST00000392634.4	+	10	2017	c.1905C>T	c.(1903-1905)gcC>gcT	p.A635A	INF2_ENST00000330634.7_Silent_p.A635A	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	635	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TCCTCGATGCCAAGAAGAGCC	0.622											OREG0022959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ypb.2																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(1903-1905)gcC>gcT		Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.							109.0	122.0	118.0					14																	105175025		1984	4167	6151	SO:0001819	synonymous_variant	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	Rho GTPase binding|actin binding	g.chr14:105175025C>T	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.1905C>T	14.37:g.105175025C>T			Somatic	OREG0022959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1387	INF2_uc001ypc.2_Silent_p.A635A|INF2_uc010awz.1_Non-coding_Transcript	p.A635A	NM_022489	NP_071934	WXS	Illumina GAIIx	Phase_I	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	9	2048	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	635			FH2.		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Silent	SNP	ENST00000392634.4	37	c.1905C>T	CCDS9989.2																																																																																				0.622	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		13	181	0	0	0	1	0	13	181				
AP2B1	163	broad.mit.edu	37	17	34009806	34009806	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr17:34009806G>A	ENST00000262325.7	+	17	2928	c.2375G>A	c.(2374-2376)gGc>gAc	p.G792D	AP2B1_ENST00000537622.2_Missense_Mutation_p.G806D|AP2B1_ENST00000312678.8_Missense_Mutation_p.G806D|AP2B1_ENST00000592545.1_Missense_Mutation_p.G768D|AP2B1_ENST00000538556.1_Missense_Mutation_p.G735D|AP2B1_ENST00000589344.1_Missense_Mutation_p.G806D|AP2B1_ENST00000545922.2_3'UTR|CTC-507E2.1_ENST00000588135.1_RNA	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	792					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AATACCTTGGGCCCAGTCATG	0.438																																						uc002hjq.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2416-2418)gGc>gAc		Homo sapiens adaptor-related protein complex 2, beta 1 subunit (AP2B1), transcript variant 1, mRNA.							99.0	85.0	89.0					17																	34009806		2203	4300	6503	SO:0001583	missense	163				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	g.chr17:34009806G>A	M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.2375G>A	17.37:g.34009806G>A	ENSP00000262325:p.Gly792Asp		Somatic				AP2B1_uc002hjr.3_Missense_Mutation_p.G792D|AP2B1_uc010wci.2_Missense_Mutation_p.G768D|AP2B1_uc002hjs.3_Missense_Mutation_p.G735D|AP2B1_uc002hjt.3_Missense_Mutation_p.G806D|AP2B1_uc010ctv.3_Missense_Mutation_p.G806D|AP2B1_uc010wcj.2_Missense_Mutation_p.G543D	p.G806D	NM_001030006	NP_001025177	WXS	Illumina GAIIx	Phase_I	P63010	AP2B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	17	2606	+		Ovarian(249;0.17)	792					A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	ENST00000262325.7	37	c.2417G>A	CCDS32622.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.001666	0.93227	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622;ENST00000545922	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.31	5.31	0.75309	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);Clathrin adaptor, beta-adaptin, appendage, Ig-like subdomain (1);	0.000000	0.85682	D	0.000000	T	0.70439	0.3224	M	0.87381	2.88	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.998;1.0	T	0.76179	-0.3054	10	0.72032	D	0.01	-11.4818	17.9619	0.89087	0.0:0.0:1.0:0.0	.	543;768;792;806	F5GYG9;B4DWG4;P63010;P63010-2	.;.;AP2B1_HUMAN;.	D	792;806;735;806;543	ENSP00000262325:G792D;ENSP00000314414:G806D;ENSP00000440563:G735D;ENSP00000437413:G806D	ENSP00000262325:G792D	G	+	2	0	AP2B1	31033919	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.668000	0.98619	2.483000	0.83821	0.650000	0.86243	GGC		0.438	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			4	137	0	0	0	1	0	4	137				
ATP6V0D1	9114	broad.mit.edu	37	16	67473189	67473189	+	Silent	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr16:67473189G>A	ENST00000290949.3	-	5	777	c.627C>T	c.(625-627)tgC>tgT	p.C209C	ATP6V0D1_ENST00000567694.1_5'UTR|ATP6V0D1_ENST00000602876.1_Silent_p.C132C|ATP6V0D1_ENST00000540149.1_Silent_p.C250C	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	209					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP hydrolysis coupled proton transport (GO:0015991)|brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|cellular protein metabolic process (GO:0044267)|cilium assembly (GO:0042384)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|synaptic vesicle (GO:0008021)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)			large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		CCAGGATGGGGCACATGGCAT	0.627																																						uc010vjo.1																			0				large_intestine(3)|lung(3)|urinary_tract(2)	8						c.(748-750)tgC>tgT		Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 (ATP6V0D1), mRNA.							73.0	61.0	65.0					16																	67473189		2198	4300	6498	SO:0001819	synonymous_variant	9114				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex		g.chr16:67473189G>A	X71490	CCDS10838.1	16q22	2010-04-21	2006-01-20	2002-05-10	ENSG00000159720	ENSG00000159720		"""ATPases / V-type"""	13724	protein-coding gene	gene with protein product		607028	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 1"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D1"""	ATP6D		8250920	Standard	NM_004691		Approved	ATP6DV, VATX, VPATPD, P39, Vma6	uc002ete.1	P61421	OTTHUMG00000137515	ENST00000290949.3:c.627C>T	16.37:g.67473189G>A			Somatic				ATP6V0D1_uc002ete.1_Silent_p.C209C|ATP6V0D1_uc010vjn.1_Silent_p.C132C	p.C250C	NM_004691	NP_004682	WXS	Illumina GAIIx	Phase_I	P61421	VA0D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)	5	850	-		Ovarian(137;0.0563)	209					P12953|Q02547	Silent	SNP	ENST00000290949.3	37	c.750C>T	CCDS10838.1																																																																																				0.627	ATP6V0D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268835.1	NM_004691		4	94	0	0	0	1	0	4	94				
CNTF	1270	broad.mit.edu	37	11	58390308	58390308	+	Missense_Mutation	SNP	G	G	A	rs139149169		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr11:58390308G>A	ENST00000361987.4	+	1	163	c.83G>A	c.(82-84)cGt>cAt	p.R28H	ZFP91-CNTF_ENST00000389919.4_3'UTR	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN	ciliary neurotrophic factor	28					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|growth (GO:0040007)|muscle organ morphogenesis (GO:0048644)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of photoreceptor cell differentiation (GO:0046533)|neuron development (GO:0048666)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of retinal cell programmed cell death (GO:0046668)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AGGAAGATTCGTTCAGACCTG	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		18782	0.0		0.001	False		,,,				2504	0.0					uc001nna.4																			0		p.R28C(1)		NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10						c.(82-84)cGt>cAt		Homo sapiens ciliary neurotrophic factor (CNTF), mRNA.		G	HIS/ARG	4,4398	6.2+/-15.9	0,4,2197	127.0	117.0	120.0		83	2.3	1.0	11	dbSNP_134	120	10,8580	7.7+/-29.5	0,10,4285	yes	missense	CNTF	NM_000614.3	29	0,14,6482	AA,AG,GG		0.1164,0.0909,0.1078	probably-damaging	28/201	58390308	14,12978	2201	4295	6496	SO:0001583	missense	1270				ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding	g.chr11:58390308G>A	BC068030	CCDS31554.1	11q12	2011-07-21			ENSG00000242689	ENSG00000242689			2169	protein-coding gene	gene with protein product		118945				1840538, 1714745	Standard	NM_000614		Approved	HCNTF	uc001nna.4	P26441	OTTHUMG00000137476	ENST00000361987.4:c.83G>A	11.37:g.58390308G>A	ENSP00000355370:p.Arg28His		Somatic				CNTF_uc010rkm.2_Non-coding_Transcript	p.R28H	NM_000614	NP_000605	WXS	Illumina GAIIx	Phase_I	P26441	CNTF_HUMAN			0	163	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	28					B2RAB2	Missense_Mutation	SNP	ENST00000361987.4	37	c.83G>A	CCDS31554.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.953376	0.53293	9.09E-4	0.001164	ENSG00000242689	ENST00000361987	T	0.46063	0.88	5.16	2.3	0.28687	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	.	.	.	.	T	0.39784	0.1091	M	0.67953	2.075	0.35143	D	0.769012	B	0.20459	0.045	B	0.18871	0.023	T	0.47129	-0.9141	9	0.72032	D	0.01	-12.4163	8.7308	0.34498	0.2424:0.0:0.7576:0.0	.	28	P26441	CNTF_HUMAN	H	28	ENSP00000355370:R28H	ENSP00000447778:R28H	R	+	2	0	CNTF	58146884	1.000000	0.71417	0.996000	0.52242	0.495000	0.33615	2.425000	0.44723	0.439000	0.26476	-0.126000	0.14955	CGT		0.483	CNTF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268673.1	NM_000614		13	49	0	0	0	1	0	13	49				
MYH15	22989	broad.mit.edu	37	3	108224618	108224618	+	Silent	SNP	T	T	C			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr3:108224618T>C	ENST00000273353.3	-	3	263	c.207A>G	c.(205-207)aaA>aaG	p.K69K		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	69						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.K69K(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTTCACTCCCTTTTACCTCAG	0.348																																						uc003dxa.1																			1	Substitution - coding silent(1)	p.K69K(2)|p.V68L(1)	endometrium(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(205-207)aaA>aaG		Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.							212.0	197.0	202.0					3																	108224618		1876	4133	6009	SO:0001819	synonymous_variant	22989					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	g.chr3:108224618T>C	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.207A>G	3.37:g.108224618T>C			Somatic					p.K69K	NM_014981	NP_055796	WXS	Illumina GAIIx	Phase_I	Q9Y2K3	MYH15_HUMAN			2	264	-			69			Myosin head-like.			Silent	SNP	ENST00000273353.3	37	c.207A>G	CCDS43127.1																																																																																				0.348	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		3	244	0	0	0	1	0	3	244				
GPRC5B	51704	broad.mit.edu	37	16	19883499	19883499	+	Silent	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr16:19883499G>A	ENST00000300571.2	-	2	860	c.669C>T	c.(667-669)tgC>tgT	p.C223C	GPRC5B_ENST00000569847.1_Silent_p.C223C|GPRC5B_ENST00000535671.1_Silent_p.C223C|GPRC5B_ENST00000537135.1_Silent_p.C249C|GPRC5B_ENST00000569479.1_Silent_p.C223C	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	223					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TGAACTTGCCGCACAGAGTGA	0.592																																						uc010vav.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(745-747)tgC>tgT		Homo sapiens G protein-coupled receptor, family C, group 5, member B (GPRC5B), mRNA.							129.0	114.0	119.0					16																	19883499		2197	4300	6497	SO:0001819	synonymous_variant	51704							g.chr16:19883499G>A	AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"""GPCR / Class C : Orphans"""	13308	protein-coding gene	gene with protein product		605948	"""G protein-coupled receptor, family C, group 1, member B"", ""G protein-coupled receptor, family C, group 5, member B"""			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.669C>T	16.37:g.19883499G>A			Somatic				GPRC5B_uc021tef.1_Silent_p.C215C|GPRC5B_uc002dgt.3_Silent_p.C223C	p.C249C	NM_016235	NP_057319	WXS	Illumina GAIIx	Phase_I	Q9NZH0	GPC5B_HUMAN			1	978	-			223					D2DFB0|O75205|Q8NBZ8	Silent	SNP	ENST00000300571.2	37	c.747C>T	CCDS10581.1																																																																																				0.592	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1			3	133	0	0	0	1	0	3	133				
CEP128	145508	broad.mit.edu	37	14	81251451	81251451	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr14:81251451C>T	ENST00000555265.1	-	15	2374	c.1999G>A	c.(1999-2001)Gac>Aac	p.D667N	CEP128_ENST00000281129.3_Missense_Mutation_p.D667N			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	667						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GCAGTGAGGTCAGAAAGGTCC	0.478																																						uc001xux.2																			0		p.D667V(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1999-2001)Gac>Aac		Homo sapiens centrosomal protein 128kDa (CEP128), mRNA.							232.0	186.0	202.0					14																	81251451		2203	4300	6503	SO:0001583	missense	145508					centriole|spindle pole		g.chr14:81251451C>T	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.1999G>A	14.37:g.81251451C>T	ENSP00000451162:p.Asp667Asn		Somatic				CEP128_uc010asz.2_Non-coding_Transcript	p.D667N	NM_152446	NP_689659	WXS	Illumina GAIIx	Phase_I	Q6ZU80	CE128_HUMAN			13	2170	-			667					B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	c.1999G>A	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.274203	0.40194	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619	T;T	0.38887	1.11;1.11	6.15	4.3	0.51218	.	0.126644	0.51477	D	0.000086	T	0.43366	0.1244	L	0.46157	1.445	0.80722	D	1	P	0.46142	0.873	B	0.43658	0.426	T	0.50709	-0.8796	10	0.66056	D	0.02	.	17.3776	0.87397	0.0:0.7658:0.2341:0.0	.	667	Q6ZU80	CE128_HUMAN	N	667	ENSP00000281129:D667N;ENSP00000451162:D667N	ENSP00000281129:D667N	D	-	1	0	CEP128	80321204	1.000000	0.71417	1.000000	0.80357	0.077000	0.17291	2.813000	0.48002	1.634000	0.50500	-0.134000	0.14843	GAC		0.478	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		43	160	0	0	0	1	0	43	160				
CD4	920	broad.mit.edu	37	12	6927643	6927643	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr12:6927643G>A	ENST00000011653.4	+	8	1471	c.1213G>A	c.(1213-1215)Gtc>Atc	p.V405I		NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	405					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	GCTGGGGGGCGTCGCCGGCCT	0.622																																						uc001qqv.2																			0		p.G404G(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23						c.(1213-1215)Gtc>Atc		Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.							81.0	76.0	78.0					12																	6927643		2203	4300	6503	SO:0001583	missense	920				T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	g.chr12:6927643G>A	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.1213G>A	12.37:g.6927643G>A	ENSP00000011653:p.Val405Ile		Somatic				CD4_uc010sfj.2_Missense_Mutation_p.V132I|CD4_uc009zfc.2_Missense_Mutation_p.V226I|CD4_uc010sfl.2_Missense_Mutation_p.V132I|CD4_uc010sfk.2_Missense_Mutation_p.V132I|CD4_uc010sfm.1_Missense_Mutation_p.V132I	p.V405I	NM_000616	NP_000607	WXS	Illumina GAIIx	Phase_I	P01730	CD4_HUMAN			7	1471	+		Myeloproliferative disorder(1001;0.0122)	405					B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Missense_Mutation	SNP	ENST00000011653.4	37	c.1213G>A	CCDS8562.1	.	.	.	.	.	.	.	.	.	.	G	0.464	-0.887456	0.02511	.	.	ENSG00000010610	ENST00000011653	T	0.22134	1.97	4.23	-7.83	0.01201	.	5.286540	0.00357	N	0.000031	T	0.07954	0.0199	N	0.12746	0.255	0.09310	N	0.999999	B;P	0.35226	0.024;0.491	B;B	0.22753	0.003;0.041	T	0.14504	-1.0470	10	0.19147	T	0.46	-6.7019	6.0682	0.19875	0.5671:0.0:0.1977:0.2352	.	226;405	B0AZV7;P01730	.;CD4_HUMAN	I	405	ENSP00000011653:V405I	ENSP00000011653:V405I	V	+	1	0	CD4	6797904	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.849000	0.01672	-2.457000	0.00539	-1.108000	0.02087	GTC		0.622	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		4	145	0	0	0	1	0	4	145				
ADCY4	196883	broad.mit.edu	37	14	24798362	24798362	+	Silent	SNP	G	G	A			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr14:24798362G>A	ENST00000310677.4	-	11	1542	c.1429C>T	c.(1429-1431)Ctg>Ttg	p.L477L	ADCY4_ENST00000554068.2_Silent_p.L477L|ADCY4_ENST00000418030.2_Silent_p.L477L|ADCY4_ENST00000396747.3_Silent_p.L170L	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	477					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CGGGTCATCAGCAGTGATGGA	0.622																																						uc001wow.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1429-1431)Ctg>Ttg		Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.							132.0	122.0	125.0					14																	24798362		2203	4300	6503	SO:0001819	synonymous_variant	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding|protein binding	g.chr14:24798362G>A	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.1429C>T	14.37:g.24798362G>A			Somatic				ADCY4_uc010toh.2_Silent_p.L163L|ADCY4_uc001wox.3_Silent_p.L477L|ADCY4_uc001woy.3_Silent_p.L477L	p.L477L	NM_001198568	NP_001185497	WXS	Illumina GAIIx	Phase_I	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	9	1848	-			477					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	ENST00000310677.4	37	c.1429C>T	CCDS9627.1																																																																																				0.622	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			3	96	0	0	0	1	0	3	96				
OSBP	5007	broad.mit.edu	37	11	59377967	59377967	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	g.chr11:59377967T>C	ENST00000263847.1	-	2	937	c.458A>G	c.(457-459)aAt>aGt	p.N153S		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	153	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	oxysterol binding (GO:0008142)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		AGCACCCCCATTGGAAATGAT	0.537																																						uc001noc.1																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(457-459)aAt>aGt		Homo sapiens oxysterol binding protein (OSBP), mRNA.							169.0	150.0	156.0					11																	59377967		2201	4295	6496	SO:0001583	missense	5007				lipid transport	Golgi membrane	oxysterol binding	g.chr11:59377967T>C	AF185696	CCDS7974.1	11q12-q13	2013-01-10			ENSG00000110048	ENSG00000110048		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8503	protein-coding gene	gene with protein product		167040					Standard	NM_002556		Approved	OSBP1	uc001noc.1	P22059	OTTHUMG00000167422	ENST00000263847.1:c.458A>G	11.37:g.59377967T>C	ENSP00000263847:p.Asn153Ser		Somatic					p.N153S	NM_002556	NP_002547	WXS	Illumina GAIIx	Phase_I	P22059	OSBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	1	938	-		all_epithelial(135;0.000236)	153			PH.		Q6P524	Missense_Mutation	SNP	ENST00000263847.1	37	c.458A>G	CCDS7974.1	.	.	.	.	.	.	.	.	.	.	T	10.82	1.457043	0.26161	.	.	ENSG00000110048	ENST00000263847	T	0.75704	-0.96	5.68	4.56	0.56223	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.145690	0.64402	D	0.000008	T	0.61464	0.2349	N	0.11364	0.135	0.58432	D	0.999991	B	0.27286	0.174	B	0.42916	0.402	T	0.51733	-0.8668	10	0.07482	T	0.82	-25.4067	11.3214	0.49424	0.0:0.072:0.0:0.928	.	153	P22059	OSBP1_HUMAN	S	153	ENSP00000263847:N153S	ENSP00000263847:N153S	N	-	2	0	OSBP	59134543	1.000000	0.71417	0.989000	0.46669	0.669000	0.39330	6.290000	0.72712	0.979000	0.38497	-0.256000	0.11100	AAT		0.537	OSBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394555.1			41	119	0	0	0	1	0	41	119				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A28X-01A-11D-A22D-08	TCGA-BJ-A28X-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7329a9-54bb-4506-9ce2-eac76b45722b	87de6b67-57e3-48b1-b80d-a7d4e1fd21b2	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		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	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		29	134	0	0	0	1	0	29	134				
