#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
PPM1D	8493	broad.mit.edu	37	17	58740503	58740503	+	Missense_Mutation	SNP	G	G	A	rs377665493		TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr17:58740503G>A	ENST00000305921.3	+	6	1640	c.1408G>A	c.(1408-1410)Gat>Aat	p.D470N	RNU6-623P_ENST00000363143.1_RNA	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	470					G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			ACCCTCAAAAGATCCAGAACC	0.423											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										uc002iyt.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15						c.(1408-1410)Gat>Aat		Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA.		G	ASN/ASP	0,4406		0,0,2203	105.0	99.0	101.0		1408	5.1	1.0	17		101	1,8599	1.2+/-3.3	0,1,4299	no	missense	PPM1D	NM_003620.3	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	470/606	58740503	1,13005	2203	4300	6503	SO:0001583	missense	8493				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr17:58740503G>A	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9277	protein-coding gene	gene with protein product	"""wild-type p53-induced phosphatase 1"", ""protein phosphatase 2C, delta isoform"""	605100	"""protein phosphatase 1D magnesium-dependent, delta isoform"""			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.1408G>A	17.37:g.58740503G>A	ENSP00000306682:p.Asp470Asn		Somatic	OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1033	PPM1D_uc010ddm.2_Non-coding_Transcript	p.D470N	NM_003620	NP_003611	WXS	Illumina GAIIx	Phase_I	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		5	1640	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		470					Q53XP4|Q6P991|Q8IVR6	Missense_Mutation	SNP	ENST00000305921.3	37	c.1408G>A	CCDS11625.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.723430	0.48728	0.0	1.16E-4	ENSG00000170836	ENST00000305921	T	0.51325	0.71	6.08	5.12	0.69794	.	0.185848	0.56097	D	0.000035	T	0.35828	0.0945	L	0.32530	0.975	0.36022	D	0.838805	B	0.15141	0.012	B	0.09377	0.004	T	0.36866	-0.9730	10	0.30078	T	0.28	-21.112	11.4126	0.49933	0.1372:0.0:0.8628:0.0	.	470	O15297	PPM1D_HUMAN	N	470	ENSP00000306682:D470N	ENSP00000306682:D470N	D	+	1	0	PPM1D	56095285	1.000000	0.71417	1.000000	0.80357	0.186000	0.23388	5.031000	0.64134	1.591000	0.50007	0.591000	0.81541	GAT		0.423	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620		3	59	0	0	0	1	0	3	59				
FGF3	2248	broad.mit.edu	37	11	69625427	69625427	+	Silent	SNP	G	G	A			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr11:69625427G>A	ENST00000334134.2	-	3	456	c.366C>T	c.(364-366)caC>caT	p.H122H		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	122					anatomical structure morphogenesis (GO:0009653)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cardiac muscle tissue development (GO:0055026)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|post-anal tail morphogenesis (GO:0036342)|semicircular canal morphogenesis (GO:0048752)|signal transduction (GO:0007165)|thymus development (GO:0048538)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	growth factor activity (GO:0008083)	p.H122Q(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			AGCCCAGCTCGTGGATCCGCT	0.647																																						uc001oph.3																			1	Substitution - Missense(1)	p.H122Q(2)|p.H122N(1)	lung(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13						c.(364-366)caC>caT		Homo sapiens fibroblast growth factor 3 (FGF3), mRNA.							41.0	46.0	45.0					11																	69625427		2198	4289	6487	SO:0001819	synonymous_variant	2248				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity	g.chr11:69625427G>A		CCDS8195.1	11q13	2010-06-25	2010-06-25		ENSG00000186895	ENSG00000186895			3681	protein-coding gene	gene with protein product	"""INT-2 proto-oncogene protein"", ""oncogene INT2"", ""V-INT2 murine mammary tumor virus integration site oncogene homolog"", ""murine mammary tumor virus integration site 2, mouse"""	164950	"""fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog)"""	INT2			Standard	NM_005247		Approved	HBGF-3	uc001oph.3	P11487	OTTHUMG00000167888	ENST00000334134.2:c.366C>T	11.37:g.69625427G>A			Somatic					p.H122H	NM_005247	NP_005238	WXS	Illumina GAIIx	Phase_I	P11487	FGF3_HUMAN	LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		2	857	-			122					Q0VG69	Silent	SNP	ENST00000334134.2	37	c.366C>T	CCDS8195.1																																																																																				0.647	FGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396835.1	NM_005247		7	174	0	0	0	1	0	7	174				
COL22A1	169044	broad.mit.edu	37	8	139658912	139658912	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr8:139658912G>A	ENST00000303045.6	-	47	3907	c.3461C>T	c.(3460-3462)cCt>cTt	p.P1154L	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1134L|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1154	Collagen-like 10.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TAGGCCTGGAGGCCCAGCCTC	0.493										HNSCC(7;0.00092)																												uc003yvd.3																			0		p.P1154S(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(3460-3462)cCt>cTt		Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.							25.0	24.0	24.0					8																	139658912		2201	4292	6493	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139658912G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3461C>T	8.37:g.139658912G>A	ENSP00000303153:p.Pro1154Leu	HNSCC(7;0.00092)	Somatic				COL22A1_uc011ljo.2_Missense_Mutation_p.P434L	p.P1154L	NM_152888	NP_690848	WXS	Illumina GAIIx	Phase_I	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		46	3908	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1154			Collagen-like 10.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.3461C>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	0.448	-0.894989	0.02491	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.97066	-4.23;-4.23	5.46	3.29	0.37713	.	0.427444	0.19785	N	0.106138	D	0.93877	0.8041	L	0.60904	1.88	0.21579	N	0.999636	B;B	0.06786	0.0;0.001	B;B	0.08055	0.002;0.003	D	0.85230	0.1032	10	0.28530	T	0.3	.	5.4872	0.16757	0.3327:0.0:0.6673:0.0	.	1134;1154	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	L	1154;1134;847	ENSP00000303153:P1154L;ENSP00000387655:P1134L	ENSP00000303153:P1154L	P	-	2	0	COL22A1	139728094	0.626000	0.27120	0.041000	0.18516	0.013000	0.08279	1.688000	0.37690	1.441000	0.47550	0.655000	0.94253	CCT		0.493	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		3	5	0	0	0	1	0	3	5				
COBL	23242	broad.mit.edu	37	7	51111289	51111289	+	Silent	SNP	C	C	T			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr7:51111289C>T	ENST00000265136.7	-	8	1362	c.1197G>A	c.(1195-1197)gcG>gcA	p.A399A	COBL_ENST00000395542.2_Silent_p.A481A	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	399					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TGTCCTCCGACGCAAAACAGC	0.607																																					NSCLC(189;2119 2138 12223 30818 34679)	uc003tps.3																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(1366-1368)gcG>gcA		Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.							101.0	83.0	89.0					7																	51111289		2203	4300	6503	SO:0001819	synonymous_variant	23242							g.chr7:51111289C>T	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.1197G>A	7.37:g.51111289C>T			Somatic				COBL_uc003tpr.4_Silent_p.A399A|COBL_uc011kcl.2_Silent_p.A399A|COBL_uc010kzc.3_Silent_p.A399A|COBL_uc003tpp.4_Silent_p.A185A|COBL_uc003tpq.4_Silent_p.A340A	p.A456A	NM_015198	NP_056013	WXS	Illumina GAIIx	Phase_I	O75128	COBL_HUMAN			8	1553	-	Glioma(55;0.08)		399					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP	ENST00000265136.7	37	c.1368G>A	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	C	0.179	-1.064484	0.01934	.	.	ENSG00000106078	ENST00000452534	.	.	.	5.42	-10.8	0.00216	.	.	.	.	.	T	0.19446	0.0467	.	.	.	0.24316	N	0.995064	.	.	.	.	.	.	T	0.35276	-0.9795	4	.	.	.	.	3.7428	0.08537	0.1335:0.1771:0.4089:0.2804	.	.	.	.	I	375	.	.	V	-	1	0	COBL	51078783	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-4.806000	0.00183	-6.320000	0.00005	-0.736000	0.03550	GTC		0.607	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		5	93	0	0	0	1	0	5	93				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	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		28	60	0	0	0	1	0	28	60				
TTC21B	79809	broad.mit.edu	37	2	166770121	166770121	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr2:166770121A>G	ENST00000243344.7	-	16	2311	c.2174T>C	c.(2173-2175)tTt>tCt	p.F725S		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	725					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						AAGGAGAAGAAAAGACCGAGG	0.323																																						uc002udk.3																			0				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						c.(2173-2175)tTt>tCt		Homo sapiens tetratricopeptide repeat domain 21B (TTC21B), mRNA.							96.0	99.0	98.0					2																	166770121		2203	4300	6503	SO:0001583	missense	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166770121A>G	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.2174T>C	2.37:g.166770121A>G	ENSP00000243344:p.Phe725Ser		Somatic					p.F725S	NM_024753	NP_079029	WXS	Illumina GAIIx	Phase_I	Q7Z4L5	TT21B_HUMAN			15	2307	-			725					A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	c.2174T>C	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	A	7.403	0.633145	0.14322	.	.	ENSG00000123607	ENST00000243344	T	0.55234	0.53	5.23	5.23	0.72850	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.161705	0.56097	D	0.000031	T	0.35393	0.0930	N	0.20401	0.57	0.80722	D	1	B	0.24132	0.098	B	0.23419	0.046	T	0.17806	-1.0357	10	0.22706	T	0.39	-11.0818	10.3574	0.43972	0.8535:0.0:0.0:0.1465	.	725	Q7Z4L5	TT21B_HUMAN	S	725	ENSP00000243344:F725S	ENSP00000243344:F725S	F	-	2	0	TTC21B	166478367	1.000000	0.71417	0.990000	0.47175	0.383000	0.30230	3.204000	0.51082	1.966000	0.57179	0.482000	0.46254	TTT		0.323	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		18	51	0	0	0	1	0	18	51				
ZNF493	284443	broad.mit.edu	37	19	21606565	21606565	+	Silent	SNP	A	A	G			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr19:21606565A>G	ENST00000355504.4	+	2	986	c.720A>G	c.(718-720)aaA>aaG	p.K240K	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Silent_p.K368K	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	240					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						CTACACATAAAAGAATTCATA	0.358																																						uc002npw.3																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1102-1104)aaA>aaG		Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.							44.0	49.0	48.0					19																	21606565		2198	4291	6489	SO:0001819	synonymous_variant	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606565A>G	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.720A>G	19.37:g.21606565A>G			Somatic				ZNF493_uc002npx.3_Silent_p.K240K|ZNF493_uc002npy.3_Silent_p.K240K|ZNF493_uc021urq.1_Silent_p.K240K	p.K368K	NM_001076678	NP_787106	WXS	Illumina GAIIx	Phase_I	Q6ZR52	ZN493_HUMAN			3	1223	+			240					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Silent	SNP	ENST00000355504.4	37	c.1104A>G	CCDS12412.1																																																																																				0.358	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		3	73	0	0	0	1	0	3	73				
TWF2	11344	broad.mit.edu	37	3	52266070	52266070	+	Silent	SNP	G	G	A			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr3:52266070G>A	ENST00000305533.5	-	3	415	c.172C>T	c.(172-174)Ctg>Ttg	p.L58L	TWF2_ENST00000499914.2_Silent_p.L58L|TLR9_ENST00000494383.1_5'Flank|TLR9_ENST00000597542.1_5'UTR	NM_007284.3	NP_009215.1	Q6IBS0	TWF2_HUMAN	twinfilin actin-binding protein 2	58	ADF-H 1. {ECO:0000255|PROSITE- ProRule:PRU00599}.				barbed-end actin filament capping (GO:0051016)|cell projection organization (GO:0030030)|cellular response to growth factor stimulus (GO:0071363)|cellular response to retinoic acid (GO:0071300)|negative regulation of actin filament polymerization (GO:0030837)|positive regulation of axon extension (GO:0045773)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of microvillus length (GO:0032532)|sequestering of actin monomers (GO:0042989)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|stereocilium (GO:0032420)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGCAGTGGCAGCACGGCCCTG	0.662											OREG0015610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ddd.3																			0				endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30						c.(172-174)Ctg>Ttg		Homo sapiens twinfilin, actin-binding protein, homolog 2 (Drosophila) (TWF2), mRNA.	Chloroquine(DB00608)						67.0	61.0	63.0					3																	52266070		2203	4300	6503	SO:0001819	synonymous_variant	54106				I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	g.chr3:52266070G>A	Y17169	CCDS2849.1	3p21.1	2013-04-25	2013-04-25	2006-11-13	ENSG00000247596	ENSG00000247596			9621	protein-coding gene	gene with protein product		607433	"""protein tyrosine kinase 9-like (A6-related protein)"", ""PTK9L protein tyrosine kinase 9-like (A6-related protein)"", ""twinfilin, actin-binding protein, homolog 2 (Drosophila)"""	PTK9L		10406962, 12807912	Standard	NM_007284		Approved	A6RP, A6r		Q6IBS0	OTTHUMG00000158105	ENST00000305533.5:c.172C>T	3.37:g.52266070G>A			Somatic	OREG0015610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	983	TLR9_uc003ddb.3_5'Flank|TLR9_uc003ddc.1_5'Flank	p.L58L	NM_007284	NP_009215	WXS	Illumina GAIIx	Phase_I	Q9NR96	TLR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	323	-			0					Q9Y3F5	Silent	SNP	ENST00000305533.5	37	c.172C>T	CCDS2849.1																																																																																				0.662	TWF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350199.2			3	41	0	0	0	1	0	3	41				
PTPRU	10076	broad.mit.edu	37	1	29586031	29586031	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr1:29586031C>A	ENST00000345512.3	+	5	759	c.630C>A	c.(628-630)tgC>tgA	p.C210*	PTPRU_ENST00000428026.2_Nonsense_Mutation_p.C210*|PTPRU_ENST00000460170.2_Nonsense_Mutation_p.C210*|PTPRU_ENST00000356870.3_Nonsense_Mutation_p.C210*|PTPRU_ENST00000373779.3_Nonsense_Mutation_p.C210*|PTPRU_ENST00000323874.8_Nonsense_Mutation_p.C210*	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	210	Ig-like C2-type.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CGTTCCAGTGCATGGCCGCGG	0.687																																						uc001bru.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79						c.(628-630)tgC>tgA		Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.							22.0	26.0	25.0					1																	29586031		2201	4296	6497	SO:0001587	stop_gained	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29586031C>A	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.630C>A	1.37:g.29586031C>A	ENSP00000334941:p.Cys210*		Somatic				PTPRU_uc009vtq.3_Nonsense_Mutation_p.C210*|PTPRU_uc009vtr.3_Nonsense_Mutation_p.C210*|PTPRU_uc001brw.3_Nonsense_Mutation_p.C210*	p.C210*	NM_005704	NP_005695	WXS	Illumina GAIIx	Phase_I	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	4	759	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	210			Ig-like C2-type.		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Nonsense_Mutation	SNP	ENST00000345512.3	37	c.630C>A	CCDS334.1	.	.	.	.	.	.	.	.	.	.	C	38	7.108432	0.98070	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	.	.	.	4.61	2.73	0.32206	.	0.067820	0.64402	U	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5532	0.22446	0.0:0.6054:0.0:0.3946	.	.	.	.	X	210	.	.	C	+	3	2	PTPRU	29458618	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	0.895000	0.28363	0.400000	0.25396	0.456000	0.33151	TGC		0.687	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			3	58	0	0	0	1	0	3	58				
ZNF623	9831	broad.mit.edu	37	8	144733418	144733418	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr8:144733418A>G	ENST00000501748.2	+	1	1465	c.1376A>G	c.(1375-1377)tAt>tGt	p.Y459C	ZNF623_ENST00000458270.2_Missense_Mutation_p.Y419C|ZNF623_ENST00000526926.1_Missense_Mutation_p.Y419C	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	459					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GAAAAGCCCTATGTGTGCAGT	0.443																																						uc003yzd.2																			0				endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27						c.(1375-1377)tAt>tGt		Homo sapiens zinc finger protein 623 (ZNF623), transcript variant 1, mRNA.							98.0	94.0	95.0					8																	144733418		2203	4300	6503	SO:0001583	missense	9831				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144733418A>G	AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"""Zinc fingers, C2H2-type"""	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.1376A>G	8.37:g.144733418A>G	ENSP00000445979:p.Tyr459Cys		Somatic				ZNF623_uc011lkp.1_Missense_Mutation_p.Y419C|ZNF623_uc003yzc.2_Missense_Mutation_p.Y419C	p.Y459C	NM_014789	NP_055604	WXS	Illumina GAIIx	Phase_I	O75123	ZN623_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		0	1465	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		459					A4FU80|B4DGP3|E7ENV5	Missense_Mutation	SNP	ENST00000501748.2	37	c.1376A>G	CCDS34957.1	.	.	.	.	.	.	.	.	.	.	A	12.16	1.855414	0.32791	.	.	ENSG00000183309	ENST00000526926;ENST00000328466;ENST00000458270;ENST00000532796;ENST00000501748	T;T;T	0.69306	-0.39;-0.39;-0.39	4.65	3.44	0.39384	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.75852	0.3906	M	0.69463	2.115	0.25398	N	0.988464	D	0.89917	1.0	D	0.70935	0.971	T	0.63747	-0.6567	9	0.87932	D	0	-15.7182	5.4455	0.16533	0.6438:0.1815:0.0:0.1747	.	459	O75123	ZN623_HUMAN	C	419;419;419;459;459	ENSP00000435232:Y419C;ENSP00000411139:Y419C;ENSP00000445979:Y459C	ENSP00000330358:Y419C	Y	+	2	0	ZNF623	144804561	0.178000	0.23122	0.791000	0.31998	0.567000	0.35839	0.891000	0.28309	0.697000	0.31718	0.402000	0.26972	TAT		0.443	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	NM_014789		34	50	0	0	0	1	0	34	50				
CDH12	1010	broad.mit.edu	37	5	21817055	21817055	+	Splice_Site	SNP	T	T	C			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr5:21817055T>C	ENST00000382254.1	-	9	2087	c.1001A>G	c.(1000-1002)aAg>aGg	p.K334R	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Splice_Site_p.K294R|CDH12_ENST00000504376.2_Splice_Site_p.K334R	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	334	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCTATATACCTTTTTCAATTT	0.294										HNSCC(59;0.17)																												uc010iuc.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.e6+1		Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.							124.0	124.0	124.0					5																	21817055		2203	4300	6503	SO:0001630	splice_region_variant	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21817055T>C	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1002+1A>G	5.37:g.21817055T>C		HNSCC(59;0.17)	Somatic				CDH12_uc011cno.1_Splice_Site_p.K294_splice|CDH12_uc003jgk.2_Splice_Site_p.K334_splice	p.K334_splice	NM_004061	NP_004052	WXS	Illumina GAIIx	Phase_I	P55289	CAD12_HUMAN			6	1460	-			334			Cadherin 3.		B2RBT1|B7Z2U6|Q86UD2	Splice_Site	SNP	ENST00000382254.1	37	c.1002_splice	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	T	15.61	2.885705	0.51908	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.55413	0.52;0.52;0.52	5.06	5.06	0.68205	Cadherin (5);Cadherin-like (1);	0.157125	0.64402	D	0.000018	T	0.61413	0.2345	M	0.65677	2.01	0.47374	D	0.999409	B;B	0.26902	0.163;0.013	B;B	0.40477	0.33;0.012	T	0.65216	-0.6222	10	0.87932	D	0	.	15.1071	0.72329	0.0:0.0:0.0:1.0	.	294;334	B7Z2U6;P55289	.;CAD12_HUMAN	R	334;334;294	ENSP00000423577:K334R;ENSP00000371689:K334R;ENSP00000428786:K294R	ENSP00000371689:K334R	K	-	2	0	CDH12	21852812	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	3.581000	0.53914	2.009000	0.58944	0.528000	0.53228	AAG		0.294	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061	Missense_Mutation	3	109	0	0	0	1	0	3	109				
ITGAM	3684	broad.mit.edu	37	16	31336828	31336828	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr16:31336828G>A	ENST00000287497.8	+	21	2588	c.2513G>A	c.(2512-2514)cGc>cAc	p.R838H	ITGAM_ENST00000544665.3_Missense_Mutation_p.R839H			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	838					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CAGAACCAGCGCTCACAGCGA	0.602																																						uc002ebr.3																			0				endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(2515-2517)cGc>cAc		Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.							63.0	67.0	66.0					16																	31336828		2089	4212	6301	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31336828G>A	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.2513G>A	16.37:g.31336828G>A	ENSP00000287497:p.Arg838His		Somatic				ITGAM_uc002ebq.3_Missense_Mutation_p.R838H|ITGAM_uc010can.3_Missense_Mutation_p.R244H|ITGAM_uc002ebs.1_Missense_Mutation_p.R244H	p.R839H	NM_001145808	NP_001139280	WXS	Illumina GAIIx	Phase_I	P11215	ITAM_HUMAN			20	2614	+			838					Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.2516G>A	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	G	6.214	0.407693	0.11754	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.47177	0.85;0.85	4.87	-9.74	0.00509	Integrin alpha-2 (1);	.	.	.	.	T	0.23171	0.0560	L	0.34521	1.04	0.09310	N	1	B;B;B	0.22080	0.064;0.02;0.02	B;B;B	0.18561	0.015;0.022;0.022	T	0.11012	-1.0605	9	0.13853	T	0.58	.	2.2913	0.04139	0.4962:0.1783:0.1195:0.206	.	244;838;838	B3KXM6;Q4VAK1;P11215	.;.;ITAM_HUMAN	H	839;838	ENSP00000441691:R839H;ENSP00000287497:R838H	ENSP00000287497:R838H	R	+	2	0	ITGAM	31244329	0.000000	0.05858	0.000000	0.03702	0.151000	0.21798	-2.251000	0.01186	-2.754000	0.00373	-1.008000	0.02478	CGC		0.602	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		36	48	0	0	0	1	0	36	48				
F10	2159	broad.mit.edu	37	13	113803259	113803259	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr13:113803259G>A	ENST00000375559.3	+	8	933	c.895G>A	c.(895-897)Ggt>Agt	p.G299S	F10_ENST00000375551.3_Silent_p.A295A|F10_ENST00000409306.1_Silent_p.A297A	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	299	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	GGAGGAGGGCGGTGAGGCGGT	0.602																																						uc001vsx.3																			0				endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18						c.(895-897)Ggt>Agt		Homo sapiens coagulation factor X (F10), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)						167.0	140.0	149.0					13																	113803259		2203	4300	6503	SO:0001583	missense	2159				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	g.chr13:113803259G>A		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.895G>A	13.37:g.113803259G>A	ENSP00000364709:p.Gly299Ser		Somatic				F10_uc001vsy.3_Silent_p.A295A	p.G299S	NM_000504	NP_000495	WXS	Illumina GAIIx	Phase_I	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)		7	952	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	299			Peptidase S1.		Q14340	Missense_Mutation	SNP	ENST00000375559.3	37	c.895G>A	CCDS9530.1	.	.	.	.	.	.	.	.	.	.	G	1.511	-0.549503	0.03996	.	.	ENSG00000126218	ENST00000375559	D	0.88509	-2.39	4.99	0.202	0.15190	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.381760	0.04666	N	0.409883	T	0.74974	0.3787	N	0.16201	0.385	0.09310	N	1	B	0.14805	0.011	B	0.06405	0.002	T	0.60697	-0.7212	10	0.08381	T	0.77	.	2.1398	0.03772	0.5024:0.1176:0.2656:0.1144	.	299	P00742	FA10_HUMAN	S	299	ENSP00000364709:G299S	ENSP00000364709:G299S	G	+	1	0	F10	112851260	0.024000	0.19004	0.017000	0.16124	0.135000	0.20990	0.808000	0.27154	-0.198000	0.10333	0.313000	0.20887	GGT		0.602	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3			6	321	0	0	0	1	0	6	321				
MTHFD2L	441024	broad.mit.edu	37	4	75147202	75147202	+	Missense_Mutation	SNP	G	G	A	rs370803008		TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr4:75147202G>A	ENST00000395759.2	+	7	893	c.866G>A	c.(865-867)gGt>gAt	p.G289D	MTHFD2L_ENST00000325278.6_Missense_Mutation_p.G231D	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	289					folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|tetrahydrofolate interconversion (GO:0035999)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			ATTGATGTGGGTATCAACTAT	0.368																																						uc011cbk.2																			0				central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8						c.(865-867)gGt>gAt		Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like (MTHFD2L), mRNA.							151.0	150.0	150.0					4																	75147202		2203	4300	6503	SO:0001583	missense	441024				folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity	g.chr4:75147202G>A	BC065771	CCDS47075.1	4q13.3	2011-08-03			ENSG00000163738	ENSG00000163738			31865	protein-coding gene	gene with protein product		614047				21163947	Standard	NM_001144978		Approved	MGC72244	uc011cbk.2	Q9H903	OTTHUMG00000157135	ENST00000395759.2:c.866G>A	4.37:g.75147202G>A	ENSP00000379108:p.Gly289Asp		Somatic				MTHFD2L_uc003hhu.3_Non-coding_Transcript|BC016361_uc003hhv.1_Intron	p.G289D	NM_001144978	NP_001138450	WXS	Illumina GAIIx	Phase_I	Q9H903	MTD2L_HUMAN	all cancers(17;0.0101)|Lung(101;0.196)		6	893	+			231					Q6P079|Q8N560	Missense_Mutation	SNP	ENST00000395759.2	37	c.866G>A	CCDS47075.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.921815	0.92319	.	.	ENSG00000163738	ENST00000395759;ENST00000359107;ENST00000325278	T;T;T	0.76448	-1.02;-1.02;-1.02	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.94108	0.8111	H	0.99825	4.815	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.96610	0.9451	10	0.87932	D	0	-31.0348	17.5681	0.87926	0.0:0.0:1.0:0.0	.	289	Q9H903	MTD2L_HUMAN	D	289;231;231	ENSP00000379108:G289D;ENSP00000352012:G231D;ENSP00000321984:G231D	ENSP00000321984:G231D	G	+	2	0	MTHFD2L	75366066	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.319000	0.79040	2.753000	0.94483	0.580000	0.79431	GGT		0.368	MTHFD2L-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004346		3	50	0	0	0	1	0	3	50				
STON2	85439	broad.mit.edu	37	14	81743303	81743303	+	Silent	SNP	G	G	A			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr14:81743303G>A	ENST00000267540.2	-	4	2552	c.2352C>T	c.(2350-2352)taC>taT	p.Y784Y	STON2_ENST00000555447.1_Silent_p.Y784Y|STON2_ENST00000556280.1_5'Flank	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	784	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AGGCATGCTCGTACTTGGCAG	0.493																																						uc001xvk.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34						c.(2350-2352)taC>taT		Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.							124.0	123.0	124.0					14																	81743303		2203	4300	6503	SO:0001819	synonymous_variant	85439				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	g.chr14:81743303G>A	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.2352C>T	14.37:g.81743303G>A			Somatic				STON2_uc010tvu.2_Silent_p.Y784Y|STON2_uc010tvt.2_Silent_p.Y581Y	p.Y784Y	NM_033104	NP_149095	WXS	Illumina GAIIx	Phase_I	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	5	2765	-			784			MHD.		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Silent	SNP	ENST00000267540.2	37	c.2352C>T	CCDS9875.1																																																																																				0.493	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		5	166	0	0	0	1	0	5	166				
DNAH1	25981	broad.mit.edu	37	3	52402841	52402841	+	Silent	SNP	G	G	A	rs374690567		TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr3:52402841G>A	ENST00000420323.2	+	37	6111	c.5850G>A	c.(5848-5850)ccG>ccA	p.P1950P		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1950	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCGATGGGCCGGTGGATGCCA	0.572																																						uc011bef.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(5848-5850)ccG>ccA		Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.		G		0,4196		0,0,2098	137.0	142.0	140.0		5850	-9.9	0.2	3		140	6,8466		0,6,4230	no	coding-synonymous	DNAH1	NM_015512.4		0,6,6328	AA,AG,GG		0.0708,0.0,0.0474		1950/4266	52402841	6,12662	2098	4236	6334	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52402841G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.5850G>A	3.37:g.52402841G>A			Somatic					p.P1950P	NM_015512	NP_056327	WXS	Illumina GAIIx	Phase_I	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	36	6111	+			1950			AAA 2 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.5850G>A	CCDS46842.1																																																																																				0.572	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		4	237	0	0	0	1	0	4	237				
MINOS1	440574	broad.mit.edu	37	1	19948613	19948613	+	Silent	SNP	A	A	T			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr1:19948613A>T	ENST00000322753.6	+	2	140	c.84A>T	c.(82-84)ggA>ggT	p.G28G	MINOS1-NBL1_ENST00000602662.1_Intron|MINOS1_ENST00000486890.1_3'UTR	NM_001032363.3|NM_001204082.1|NM_001204083.1	NP_001027535.1|NP_001191011.1|NP_001191012.1	Q5TGZ0	MIC10_HUMAN	mitochondrial inner membrane organizing system 1	28						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)											TTGGATTAGGAATTGTTTTCT	0.343																																						uc021ohu.1																			0											c.(82-84)ggA>ggT		Homo sapiens mitochondrial inner membrane organizing system 1 (MINOS1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA.							235.0	197.0	210.0					1																	19948613		2201	4299	6500	SO:0001819	synonymous_variant	440574					integral to membrane|mitochondrion		g.chr1:19948613A>T	AK094318	CCDS30620.1, CCDS72719.1	1p36.13	2013-10-11	2011-10-04	2011-10-04	ENSG00000173436	ENSG00000173436			32068	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 151"""	C1orf151		21944719	Standard	NM_001032363		Approved	RP5-1056L3.2, FLJ36999, MIO10	uc021ohu.1	Q5TGZ0	OTTHUMG00000002712	ENST00000322753.6:c.84A>T	1.37:g.19948613A>T			Somatic				MINOS1_uc001bch.2_Non-coding_Transcript|MINOS1_uc001bci.2_Silent_p.G28G|MINOS1_uc021oht.1_Intron|MINOS1_uc021ohv.1_Non-coding_Transcript|NBL1_uc021ohw.1_Intron|NBL1_uc009vpl.2_Intron	p.G28G	NM_001204083	NP_001191012	WXS	Illumina GAIIx	Phase_I	Q5TGZ0	CA151_HUMAN			1	153	+			28					Q96G68	Silent	SNP	ENST00000322753.6	37	c.84A>T	CCDS30620.1																																																																																				0.343	MINOS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007697.2	NM_001032363		8	36	0	0	0	1	0	8	36				
NR1H2	7376	broad.mit.edu	37	19	50838162	50838162	+	Intron	SNP	G	G	A			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr19:50838162G>A	ENST00000600978.1	+	2	74				NAPSB_ENST00000527780.1_RNA|KCNC3_ENST00000474951.1_5'Flank|NR1H2_ENST00000542413.1_Intron|KCNC3_ENST00000391818.2_5'Flank			P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2						cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TACGATGACAGGTGTGCCTGT	0.617																																						uc002prw.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(76-78)cCt>cTt		Homo sapiens napsin B aspartic peptidase pseudogene (NAPSB), non-coding RNA.																																				SO:0001627	intron_variant	256236							g.chr19:50838162G>A	U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"""Nuclear hormone receptors"""	7965	protein-coding gene	gene with protein product	"""liver X receptor-beta"""	600380	"""ubiquitously-expressed nuclear receptor"""	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000600978.1:c.75-3097G>A	19.37:g.50838162G>A			Somatic				NR1H2_uc002prv.4_Intron	p.P26L			WXS	Illumina GAIIx	Phase_I					6	853	-								A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Missense_Mutation	SNP	ENST00000600978.1	37	c.77C>T																																																																																					0.617	NR1H2-012	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000464783.1			3	42	0	0	0	1	0	3	42				
SLC27A4	10999	broad.mit.edu	37	9	131112801	131112801	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr9:131112801G>A	ENST00000300456.4	+	6	941	c.824G>A	c.(823-825)cGc>cAc	p.R275H	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	275					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						TATGGATTCCGCATGCGGCCC	0.607																																					Pancreas(107;1554 2241 10946 12953)	uc004but.3																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						c.(823-825)cGc>cAc		Homo sapiens solute carrier family 27 (fatty acid transporter), member 4 (SLC27A4), mRNA.							80.0	61.0	67.0					9																	131112801		2203	4300	6503	SO:0001583	missense	10999				long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding	g.chr9:131112801G>A	AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.824G>A	9.37:g.131112801G>A	ENSP00000300456:p.Arg275His		Somatic				SLC27A4_uc004buu.3_Intron	p.R275H	NM_005094	NP_005085	WXS	Illumina GAIIx	Phase_I	Q6P1M0	S27A4_HUMAN			5	1109	+			275					A8K2F7|O95186|Q96G53	Missense_Mutation	SNP	ENST00000300456.4	37	c.824G>A	CCDS6899.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036047	0.54896	.	.	ENSG00000167114	ENST00000300456	T	0.50001	0.76	5.08	5.08	0.68730	AMP-dependent synthetase/ligase (1);	0.115675	0.56097	D	0.000026	T	0.65322	0.2680	M	0.66439	2.03	0.58432	D	0.999999	D	0.56521	0.976	P	0.61722	0.893	T	0.67604	-0.5628	10	0.62326	D	0.03	-17.7007	17.6262	0.88095	0.0:0.0:1.0:0.0	.	275	Q6P1M0	S27A4_HUMAN	H	275	ENSP00000300456:R275H	ENSP00000300456:R275H	R	+	2	0	SLC27A4	130152622	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	7.430000	0.80321	2.639000	0.89480	0.563000	0.77884	CGC		0.607	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054432.2			3	36	0	0	0	1	0	3	36				
KRT33A	3883	broad.mit.edu	37	17	39504836	39504836	+	Missense_Mutation	SNP	G	G	A	rs367617704		TCGA-FY-A3NN-01A-11D-A21A-08	TCGA-FY-A3NN-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94685f1a-d017-41d1-8b00-1c24ac80ee18	2275d069-2d8f-4ea6-b1af-7ea5f185b985	g.chr17:39504836G>A	ENST00000007735.3	-	3	531	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	163	Coil 1B.|Rod.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				AGGATCCTGCGCAGGCCATTG	0.607																																						uc002hwk.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(487-489)Cgc>Tgc		Homo sapiens keratin 33A (KRT33A), mRNA.		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	93.0	85.0	88.0		487	4.3	1.0	17		88	0,8600		0,0,4300	no	missense	KRT33A	NM_004138.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	163/405	39504836	1,13005	2203	4300	6503	SO:0001583	missense	3883					intermediate filament	protein binding|structural molecule activity	g.chr17:39504836G>A	Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6450	protein-coding gene	gene with protein product	"""hard keratin type I 3I"""	602761	"""keratin, hair, acidic, 3A"""	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.487C>T	17.37:g.39504836G>A	ENSP00000007735:p.Arg163Cys		Somatic					p.R163C	NM_004138	NP_004129	WXS	Illumina GAIIx	Phase_I	O76009	KT33A_HUMAN			2	524	-		Breast(137;0.000496)	163			Coil 1B.|Rod.		B2RA87|Q6NTB9|Q6ZZB9	Missense_Mutation	SNP	ENST00000007735.3	37	c.487C>T	CCDS11388.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269490	0.80469	2.27E-4	0.0	ENSG00000006059	ENST00000007735	D	0.92545	-3.06	5.26	4.29	0.51040	Filament (1);	0.000000	0.64402	D	0.000003	D	0.95626	0.8578	M	0.78916	2.43	0.51767	D	0.999938	D	0.89917	1.0	D	0.81914	0.995	D	0.96132	0.9093	10	0.87932	D	0	.	14.6213	0.68588	0.0:0.0:0.8536:0.1464	.	163	O76009	KT33A_HUMAN	C	163	ENSP00000007735:R163C	ENSP00000007735:R163C	R	-	1	0	KRT33A	36758362	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.890000	0.39728	1.445000	0.47624	0.655000	0.94253	CGC		0.607	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257295.1	NM_004138		4	170	0	0	0	1	0	4	170				
