#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	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_Description	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_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_AccessionNumbers	i_HGNC_CCDS IDs	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_Genefamilydescription	i_HGNC_HGNC ID	i_HGNC_HGNCID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_Name Synonyms	i_HGNC_NameSynonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_PubmedIDs	i_HGNC_Record Type	i_HGNC_RecordType	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGA IDs	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Region	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_init_n_lod	i_init_t_lod	i_n_alt_count	i_n_alt_count_full	i_n_ref_count	i_n_ref_count_full	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_lod_fstar	i_t_lod_fstar_full	i_t_ref_count_full	i_tumor_f_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	tumor_f
BRCA1	672	broad.mit.edu	37	17	41244681	41244681	+	Missense_Mutation	SNP	G	G	C	rs80357961|rs80357819		TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chr17:41244681G>C	ENST00000357654.3	-	10	2985	c.2867C>G	c.(2866-2868)tCt>tGt	p.S956C	BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.S909C|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.S956C|BRCA1_ENST00000309486.4_Missense_Mutation_p.S660C|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.S956C|BRCA1_ENST00000354071.3_Missense_Mutation_p.S956C|BRCA1_ENST00000586385.1_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	956					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCTGAACTGAGATGATAGACA	0.393			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												ENST00000309486.4	yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120						c.(1978-1980)tCt>tGt	breast cancer 1, early onset						120.0	119.0	120.0					17																	41244681		2203	4300	6503	SO:0001583	missense	672	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41244681G>C	U14680	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			2014-09-17			ENSG00000012048	ENSG00000012048	ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	1100	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705	113705						1676470	1676470	Standard	Standard	NM_007300	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	uc002ict.3	P38398	P38398	OTTHUMG00000157426	OTTHUMG00000157426	ENST00000357654.3:c.2867C>G	17.37:g.41244681G>C	ENSP00000350283:p.Ser956Cys		BRCA1_ENST00000354071.3_Missense_Mutation_p.S956C|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.S956C|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.S956C|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.S909C|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.S956C|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591849.1_Intron	p.S660C	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	9	3006	-		Breast(137;0.000717)	956		O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.1979C>G	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	G	8.488	0.861394	0.17178	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795	T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	5.04	1.78	0.24846	5.04	1.78	0.24846	.	0.847511	0.10115	N	0.714129	D	0.88209	0.6375	M	0.90922	3.16	0.09310	N	1	D;D;D;D;D;P	0.76494	0.999;0.999;0.999;0.974;0.996;0.819	D;D;D;P;P;P	0.75484	0.921;0.921;0.986;0.854;0.908;0.464	T	0.73392	-0.3997	10	0.87932	D	0	.	4.9292	0.13909	0.1682:0.0:0.5368:0.295	.	956;915;956;956;956;956	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	C	956;956;956;956;660;956;909	ENSP00000350283:S956C;ENSP00000326002:S956C;ENSP00000246907:S956C;ENSP00000310938:S660C;ENSP00000418960:S956C;ENSP00000418775:S909C	ENSP00000310938:S660C	S	-	2	0	0	BRCA1	38498207	38498207	0.003000	0.15002	0.176000	0.23000	0.009000	0.06853	-0.005000	0.12855	0.699000	0.31761	-0.188000	0.12872	TCT		0.393	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2		-28.436974	-11	-11	173	173	NM_007294		4	7.843319	7.843319	143	0.027211	0	0	0	1	0	4	143	0.027211
ALG1	56052	broad.mit.edu	37	16	5121851	5121851	+	Start_Codon_SNP	SNP	A	A	G			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chr16:5121851A>G	ENST00000262374.5	+	1	32	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	ALG1_ENST00000544428.1_5'Flank|ALG1_ENST00000588623.1_Intron	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	1					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipopolysaccharide biosynthetic process (GO:0009103)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitobiosyldiphosphodolichol beta-mannosyltransferase activity (GO:0004578)|mannosyltransferase activity (GO:0000030)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				GCCAGCCAAGATGGCGGCCTC	0.721																																						ENST00000262374.5											0			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1-3)Atg>Gtg	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase						13.0	14.0	14.0					16																	5121851		2188	4285	6473	SO:0001582	initiator_codon_variant	56052			dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity	g.chr16:5121851A>G	AB019038	AB019038	CCDS10528.1	CCDS10528.1	16p13.3	2013-02-22	2013-02-22		2013-02-22	2013-02-22		ENSG00000033011	ENSG00000033011	ENSG00000033011	ENSG00000033011	2.4.1.142	"""Glycosyltransferase group 1 domain containing"""	"""Glycosyltransferase group 1 domain containing"""	18294	18294	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605907	605907	"""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)"", ""asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)"""		"""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)"", ""asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)"""			10704531	10704531	Standard	Standard	NM_019109	NM_019109		Approved	HMT-1, HMAT1	uc002cym.3	uc002cym.3	Q9BT22	Q9BT22	OTTHUMG00000129529	OTTHUMG00000129529	ENST00000262374.5:c.1A>G	16.37:g.5121851A>G	ENSP00000262374:p.Met1Val		ALG1_ENST00000588623.1_Intron	p.M1V	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN			1	32	+		Ovarian(90;0.0164)	1		B4DP08|Q6UVZ9|Q8N5Y4|Q9P2Y2	Translation_Start_Site	SNP	ENST00000262374.5	37	c.1A>G	CCDS10528.1	.	.	.	.	.	.	.	.	.	.	A	11.97	1.797087	0.31777	.	.	ENSG00000033011	ENST00000262374	T	0.75367	-0.93	4.81	4.81	0.61882	4.81	4.81	0.61882	.	0.309916	0.36591	N	0.002506	T	0.66446	0.2790	.	.	.	0.80722	D	1	B	0.15141	0.012	B	0.11329	0.006	T	0.65961	-0.6041	9	0.87932	D	0	-29.8406	10.8028	0.46497	1.0:0.0:0.0:0.0	.	1	Q9BT22	ALG1_HUMAN	V	1	ENSP00000262374:M1V	ENSP00000262374:M1V	M	+	1	0	0	ALG1	5061852	5061852	.	.	1.000000	0.80357	0.109000	0.19521	.	.	1.816000	0.52996	0.454000	0.30748	ATG		0.721	ALG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251716.2		23.394786	-13	-13	9	9	NM_019109	Missense_Mutation	8	23.443504	23.443504	10	0.444444	0	0	0	1	0	8	10	0.444444
DNAH17	8632	broad.mit.edu	37	17	76563118	76563118	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chr17:76563118G>A	ENST00000585328.1	-	10	1539	c.1415C>T	c.(1414-1416)gCc>gTc	p.A472V	DNAH17_ENST00000389840.5_Missense_Mutation_p.A472V	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	472	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTTGCAGTCGGCAAAAACCTT	0.567																																						ENST00000389840.5											0			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(1414-1416)gCc>gTc	dynein, axonemal, heavy chain 17						68.0	57.0	61.0					17																	76563118		2203	4300	6503	SO:0001583	missense	8632						g.chr17:76563118G>A	AJ000522	AJ000522			17q25.3	2012-04-19	2006-09-04		2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775	ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	"""Axonemal dyneins"""	2946	2946	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610063	610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	9545504	Standard	Standard	NM_173628	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	uc010dhp.2	Q9UFH2	Q9UFH2			ENST00000585328.1:c.1415C>T	17.37:g.76563118G>A	ENSP00000465516:p.Ala472Val		DNAH17_ENST00000585328.1_Missense_Mutation_p.A472V	p.A472V					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		10	1539	-					O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.1415C>T		.	.	.	.	.	.	.	.	.	.	G	8.418	0.845762	0.16963	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.56275	0.47	4.92	2.93	0.34026	4.92	2.93	0.34026	.	0.643900	0.13370	N	0.393012	T	0.46092	0.1375	L	0.54323	1.7	0.24140	N	0.995735	B	0.13145	0.007	B	0.16722	0.016	T	0.34428	-0.9829	10	0.30078	T	0.28	.	9.5094	0.39067	0.168:0.0:0.832:0.0	.	174	Q9UFH2-4	.	V	472	ENSP00000374490:A472V	ENSP00000300671:A472V	A	-	2	0	0	DNAH17	74074713	74074713	0.865000	0.29922	0.042000	0.18584	0.248000	0.25809	3.514000	0.53422	0.609000	0.30018	0.561000	0.74099	GCC		0.567	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2		6.482257	4	4	23	23	NM_173628		4	9.238291	9.238291	21	0.160000	0	0	0	1	0	4	21	0.16
SYBU	55638	broad.mit.edu	37	8	110590198	110590198	+	Silent	SNP	G	G	T			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chr8:110590198G>T	ENST00000422135.1	-	7	1298	c.783C>A	c.(781-783)ccC>ccA	p.P261P	SYBU_ENST00000532779.1_Silent_p.P193P|SYBU_ENST00000408889.3_Silent_p.P142P|SYBU_ENST00000433638.1_Silent_p.P261P|SYBU_ENST00000527707.1_5'UTR|SYBU_ENST00000446070.2_Silent_p.P260P|SYBU_ENST00000419099.1_Silent_p.P260P|SYBU_ENST00000529690.1_Silent_p.P131P|SYBU_ENST00000528647.1_Silent_p.P260P|SYBU_ENST00000408908.2_Silent_p.P261P|SYBU_ENST00000399066.3_Silent_p.P258P|SYBU_ENST00000533895.1_Silent_p.P260P|SYBU_ENST00000528331.1_Silent_p.P142P|SYBU_ENST00000276646.9_Silent_p.P261P|SYBU_ENST00000533171.1_Silent_p.P261P|SYBU_ENST00000533065.1_Silent_p.P142P|SYBU_ENST00000529175.1_Silent_p.P55P|SYBU_ENST00000440310.1_Silent_p.P261P|SYBU_ENST00000424158.2_Silent_p.P266P	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	261	Sufficient for interaction with KIF5B.				regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CTGGGTTTGGGGGTCTGACAC	0.453																																						ENST00000399066.3											0			NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						c.(772-774)ccC>ccA	syntabulin (syntaxin-interacting)						201.0	194.0	196.0					8																	110590198		1986	4174	6160	SO:0001819	synonymous_variant	55638				cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		g.chr8:110590198G>T	AB040905	AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27			2010-08-27				ENSG00000147642		ENSG00000147642				26011	26011	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""syntaphilin-like"""	"""syntaphilin-like"""	611568	611568						17611281, 16750881, 16157705, 15656992, 15459722	17611281, 16750881, 16157705, 15656992, 15459722	Standard	Standard	NM_001099743	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	uc003ynj.4	Q9NX95	Q9NX95			ENST00000422135.1:c.783C>A	8.37:g.110590198G>T			SYBU_ENST00000408889.3_Silent_p.P142P|SYBU_ENST00000422135.1_Silent_p.P261P|SYBU_ENST00000529690.1_Silent_p.P131P|SYBU_ENST00000446070.2_Silent_p.P260P|SYBU_ENST00000533171.1_Silent_p.P261P|SYBU_ENST00000408908.2_Silent_p.P261P|SYBU_ENST00000433638.1_Silent_p.P261P|SYBU_ENST00000528331.1_Silent_p.P142P|SYBU_ENST00000533065.1_Silent_p.P142P|SYBU_ENST00000529175.1_Silent_p.P55P|SYBU_ENST00000276646.9_Silent_p.P261P|SYBU_ENST00000424158.2_Silent_p.P266P|SYBU_ENST00000533895.1_Silent_p.P260P|SYBU_ENST00000440310.1_Silent_p.P261P|SYBU_ENST00000532779.1_Silent_p.P193P|SYBU_ENST00000528647.1_Silent_p.P260P|SYBU_ENST00000419099.1_Silent_p.P260P|SYBU_ENST00000527707.1_5'UTR	p.P258P	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN			5	1501	-			261	Sufficient for interaction with KIF5B.	A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Silent	SNP	ENST00000422135.1	37	c.774C>A	CCDS47912.1																																																																																									0.453	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1		311.629677	-58	-58	117	117	NM_017786		96	313.810838	313.810838	57	0.627451	1	0	3.78979e-47	1	4.09297e-47	96	57	0.627451
SLC13A5	284111	broad.mit.edu	37	17	6594096	6594096	+	Splice_Site	SNP	A	A	T			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chr17:6594096A>T	ENST00000433363.2	-	10	1671		c.e10+1		SLC13A5_ENST00000381074.4_Splice_Site|SLC13A5_ENST00000293800.6_Splice_Site|SLC13A5_ENST00000573648.1_Splice_Site	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5						transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						CAGGTTACTTACCATGGAGGC	0.552																																						ENST00000433363.2											0			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						c.e10+1	solute carrier family 13 (sodium-dependent citrate transporter), member 5						211.0	187.0	195.0					17																	6594096		2203	4300	6503	SO:0001630	splice_region_variant	284111				integral to membrane	citrate transmembrane transporter activity	g.chr17:6594096A>T	AJ489980	AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			2013-05-22			ENSG00000141485	ENSG00000141485	ENSG00000141485	ENSG00000141485		"""Solute carriers"""	"""Solute carriers"""	23089	23089	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608305	608305						12445824	12445824	Standard	Standard	NM_001284510	NM_001284510		Approved	NACT	uc002gdj.3	uc002gdj.3	Q86YT5	Q86YT5	OTTHUMG00000102052	OTTHUMG00000102052	ENST00000433363.2:c.1437+1T>A	17.37:g.6594096A>T			SLC13A5_ENST00000293800.6_Splice_Site|SLC13A5_ENST00000573648.1_Splice_Site|SLC13A5_ENST00000381074.4_Splice_Site		NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN			10	1671	-					B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Splice_Site	SNP	ENST00000433363.2	37		CCDS11079.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.942801	0.73672	.	.	ENSG00000141485	ENST00000293800;ENST00000433363;ENST00000381074	.	.	.	4.8	4.8	0.61643	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.606	0.56523	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	SLC13A5	6534820	6534820	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.396000	0.90190	1.920000	0.55613	0.533000	0.62120	.		0.552	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2		117.307649	-22	-22	99	99	NM_177550	Intron	39	117.971739	117.971739	56	0.410526	0	0	0	1	0	39	56	0.410526
TMEM35	59353	broad.mit.edu	37	X	100349757	100349757	+	Nonsense_Mutation	SNP	C	C	T			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chrX:100349757C>T	ENST00000372930.4	+	2	599	c.316C>T	c.(316-318)Cag>Tag	p.Q106*	TRMT2B-AS1_ENST00000443801.2_RNA|TMEM35_ENST00000478351.1_3'UTR	NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN	transmembrane protein 35	106						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						CTTCTTCCACCAGCTGGTCGG	0.577																																						ENST00000372930.4											0			NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						c.(316-318)Cag>Tag	transmembrane protein 35						250.0	183.0	206.0					X																	100349757		2203	4300	6503	SO:0001587	stop_gained	59353				cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane		g.chrX:100349757C>T	AK024146	AK024146	CCDS14478.1	CCDS14478.1	Xq22	2008-02-05			2008-02-05			ENSG00000126950	ENSG00000126950	ENSG00000126950	ENSG00000126950				25864	25864	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_021637	NM_021637		Approved	FLJ14084	uc004egw.3	uc004egw.3	Q53FP2	Q53FP2	OTTHUMG00000022016	OTTHUMG00000022016	ENST00000372930.4:c.316C>T	X.37:g.100349757C>T	ENSP00000362021:p.Gln106*		TMEM35_ENST00000478351.1_3'UTR	p.Q106*	NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN			2	599	+			106		Q9H7Y3	Nonsense_Mutation	SNP	ENST00000372930.4	37	c.316C>T	CCDS14478.1	.	.	.	.	.	.	.	.	.	.	C	37	6.294758	0.97449	.	.	ENSG00000126950	ENST00000372930;ENST00000444892	.	.	.	5.51	5.51	0.81932	5.51	5.51	0.81932	.	0.052538	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-34.3831	18.3931	0.90490	0.0:1.0:0.0:0.0	.	.	.	.	X	106;65	.	ENSP00000362021:Q106X	Q	+	1	0	0	TMEM35	100236413	100236413	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.267000	0.78462	2.284000	0.76573	0.594000	0.82650	CAG		0.577	TMEM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057508.1		141.613520	-22	-22	84	84	NM_021637		47	141.668591	141.668591	52	0.474747	0	0	0	1	0	47	52	0.474747
UBA7	7318	broad.mit.edu	37	3	49842221	49842221	+	IGR	SNP	C	C	A			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chr3:49842221C>A	ENST00000333486.3	-	0	3299				MIR5193_ENST00000584510.1_RNA|FAM212A_ENST00000333323.4_Missense_Mutation_p.P222H	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7						cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CGTGCTCGGCCCCCTCAGTTC	0.657																																						ENST00000333323.4											0										c.(664-666)cCc>cAc	family with sequence similarity 212, member A						78.0	84.0	82.0					3																	49842221		2203	4300	6503	SO:0001628	intergenic_variant	389119						g.chr3:49842221C>A	BC006378	BC012170	CCDS2805.1	CCDS2804.1	3p21	2007-11-30	2007-11-30	2007-11-30	2011-11-24	2011-11-24	2011-11-24	ENSG00000182179	ENSG00000182179	ENSG00000185614	ENSG00000185614		"""Ubiquitin-like modifier activating enzymes"""		12471	32480	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""		191325		"""ubiquitin-activating enzyme E1-like"""	UBE1L	"""chromosome 3 open reading frame 54"""	C3orf54		8327486		Standard	Standard	NM_003335	NM_203370		Approved	D8, UBE2, UBA1B	uc003cxr.3	uc003cxq.1	P41226	Q96EL1	OTTHUMG00000158267	OTTHUMG00000158268		3.37:g.49842221C>A				p.P222H	NM_203370.1	NP_976248.1	Q96EL1	CC054_HUMAN			2	798	+			220		Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	37	c.665C>A	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.836245	0.71373	.	.	ENSG00000185614	ENST00000333323	.	.	.	5.14	5.14	0.70334	5.14	5.14	0.70334	.	0.000000	0.51477	D	0.000095	T	0.74253	0.3692	L	0.44542	1.39	0.51233	D	0.999919	D	0.89917	1.0	D	0.91635	0.999	T	0.76061	-0.3097	9	0.72032	D	0.01	.	18.4034	0.90525	0.0:1.0:0.0:0.0	.	220	Q96EL1	CC054_HUMAN	H	222	.	ENSP00000329735:P222H	P	+	2	0	0	C3orf54	49817225	49817225	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	4.950000	0.63603	2.686000	0.91538	0.561000	0.74099	CCC		0.657	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1		153.842289	-26	-26	96	96	NM_003335		48	162.842988	162.842988	4	0.923077	1	0	6.9144e-35	1	7.18033e-35	48	4	0.923077
CTDSP1	58190	broad.mit.edu	37	2	219268127	219268127	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chr2:219268127A>G	ENST00000273062.2	+	6	980	c.644A>G	c.(643-645)cAt>cGt	p.H215R	MIR26B_ENST00000362251.2_RNA|CTDSP1_ENST00000488627.1_3'UTR|CTDSP1_ENST00000443891.1_Missense_Mutation_p.H214R	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1	215	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|protein dephosphorylation (GO:0006470)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TATGTCTTCCATCCAGACAAT	0.607																																						ENST00000273062.2											0			NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8						c.(643-645)cAt>cGt	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1						61.0	63.0	62.0					2																	219268127		2203	4300	6503	SO:0001583	missense	58190			protein dephosphorylation|regulation of transcription from RNA polymerase II promoter	nucleus	CTD phosphatase activity|metal ion binding|protein binding	g.chr2:219268127A>G	AF229162	AF229162	CCDS2416.1, CCDS56166.1	CCDS2416.1, CCDS56166.1	2q35	2010-06-21			2010-06-21			ENSG00000144579	ENSG00000144579	ENSG00000144579	ENSG00000144579		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	21614	21614	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""nuclear LIM interactor-interacting factor"", ""small CTD phosphatase 1"""	"""nuclear LIM interactor-interacting factor"", ""small CTD phosphatase 1"""	605323	605323						11950066, 12721286	11950066, 12721286	Standard	Standard	NM_021198	NM_021198		Approved	NLIIF, SCP1	uc021vwv.1	uc021vwv.1	Q9GZU7	Q9GZU7	OTTHUMG00000133109	OTTHUMG00000133109	ENST00000273062.2:c.644A>G	2.37:g.219268127A>G	ENSP00000273062:p.His215Arg		CTDSP1_ENST00000488627.1_3'UTR|CTDSP1_ENST00000443891.1_Missense_Mutation_p.H214R	p.H215R	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	980	+		Renal(207;0.0915)	215	FCP1 homology.	C9IYG0|Q7Z5Q3|Q7Z5Q4	Missense_Mutation	SNP	ENST00000273062.2	37	c.644A>G	CCDS2416.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.22|19.22	3.786513|3.786513	0.70337|0.70337	.|.	.|.	ENSG00000144579|ENSG00000144579	ENST00000443891;ENST00000273062|ENST00000452977;ENST00000428361	T;T|.	0.17691|.	2.26;2.26|.	4.64|4.64	4.64|4.64	0.57946|0.57946	4.64|4.64	4.64|4.64	0.57946|0.57946	NLI interacting factor (3);Dullard phosphatase domain, eukaryotic (1);HAD-like domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88243|0.88243	0.6384|0.6384	H|H	0.98664|0.98664	4.295|4.295	0.80722|0.80722	D|D	1|1	P;P|.	0.46277|.	0.875;0.875|.	P;P|.	0.59288|.	0.855;0.855|.	D|D	0.92137|0.92137	0.5717|0.5717	10|5	0.72032|.	D|.	0.01|.	-21.5941|-21.5941	13.051|13.051	0.58954|0.58954	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	215;214|.	Q9GZU7;C9IYG0|.	CTDS1_HUMAN;.|.	R|V	214;215|208;216	ENSP00000392248:H214R;ENSP00000273062:H215R|.	ENSP00000273062:H215R|.	H|I	+|+	2|1	0|0	0|0	CTDSP1|CTDSP1	218976371|218976371	218976371|218976371	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.763000|0.763000	0.43281|0.43281	9.273000|9.273000	0.95719|0.95719	1.724000|1.724000	0.51502|0.51502	0.402000|0.402000	0.26972|0.26972	CAT|ATC		0.607	CTDSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256774.1		42.755984	-10	-10	36	36	NM_182642, NM_021198		14	43.327669	43.327669	24	0.368421	0	0	0	1	0	14	24	0.368421
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.2_ENST00000585980.1_RNA|GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104.0	89.0	94.0					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"""hypocalciuric hypercalcemia 2"""	HHC2	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		97.891640	-14	-14	67	67	NM_002067		32	98.185519	98.185519	42	0.432432	0	0	0	1	0	32	42	0.432432
FAM13B	51306	broad.mit.edu	37	5	137288386	137288386	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chr5:137288386C>A	ENST00000033079.3	-	16	2246	c.1795G>T	c.(1795-1797)Gat>Tat	p.D599Y	FAM13B_ENST00000425075.2_Missense_Mutation_p.D503Y|FAM13B_ENST00000420893.2_Missense_Mutation_p.D599Y	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	599					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						GCAGCAATATCACTGTAGGAG	0.333																																						ENST00000033079.3											0			endometrium(4)|kidney(2)|lung(5)	11						c.(1795-1797)Gat>Tat	family with sequence similarity 13, member B						96.0	101.0	99.0					5																	137288386		2203	4300	6503	SO:0001583	missense	0			regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:137288386C>A	AF251038	AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003	ENSG00000031003	ENSG00000031003		"""Rho GTPase activating proteins"""	"""Rho GTPase activating proteins"""	1335	1335	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609371	609371	"""chromosome 5 open reading frame 5"", ""family with sequence similarity 13, member B1"""	C5orf5, FAM13B1	"""chromosome 5 open reading frame 5"", ""family with sequence similarity 13, member B1"""	C5orf5, FAM13B1		11087669, 11161817	11087669, 11161817	Standard	Standard	NM_016603	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	uc003lbz.2	Q9NYF5	Q9NYF5	OTTHUMG00000129202	OTTHUMG00000129202	ENST00000033079.3:c.1795G>T	5.37:g.137288386C>A	ENSP00000033079:p.Asp599Tyr		FAM13B_ENST00000420893.2_Missense_Mutation_p.D599Y|FAM13B_ENST00000425075.2_Missense_Mutation_p.D503Y	p.D599Y	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN			16	2246	-			599		D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Missense_Mutation	SNP	ENST00000033079.3	37	c.1795G>T	CCDS4195.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716476	0.89205	.	.	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	D;T;D	0.95756	-3.8;0.53;-3.8	6.05	6.05	0.98169	6.05	6.05	0.98169	.	0.048468	0.85682	D	0.000000	D	0.97892	0.9307	M	0.82056	2.57	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.98027	1.0374	10	0.87932	D	0	-16.9519	20.2037	0.98272	0.0:1.0:0.0:0.0	.	503;599;599	G3V0H9;Q9NYF5-2;Q9NYF5	.;.;FA13B_HUMAN	Y	599;503;599	ENSP00000033079:D599Y;ENSP00000394669:D503Y;ENSP00000388521:D599Y	ENSP00000033079:D599Y	D	-	1	0	0	FAM13B	137316285	137316285	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.784000	0.75084	2.866000	0.98385	0.650000	0.86243	GAT		0.333	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1		148.323741	30	30	152	152			42	155.446364	155.446364	3	0.933333	1	0	1.51926e-22	1	1.51926e-22	42	3	0.933333
RAB33A	9363	broad.mit.edu	37	X	129318341	129318341	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chrX:129318341T>C	ENST00000257017.4	+	2	755	c.341T>C	c.(340-342)gTc>gCc	p.V114A		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	114					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						CATGCCGTGGTCTTCGTCTAT	0.502																																						ENST00000257017.4											0			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						c.(340-342)gTc>gCc	RAB33A, member RAS oncogene family						162.0	122.0	135.0					X																	129318341		2203	4300	6503	SO:0001583	missense	9363			protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chrX:129318341T>C	D14889	D14889	CCDS14621.1	CCDS14621.1	Xq26	2008-02-05			2008-02-05			ENSG00000134594	ENSG00000134594	ENSG00000134594	ENSG00000134594		"""RAB, member RAS oncogene"""	"""RAB, member RAS oncogene"""	9773	9773	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300333	300333						7688322, 9512502	7688322, 9512502	Standard	Standard	NM_004794	NM_004794		Approved	RabS10	uc004evl.3	uc004evl.3	Q14088	Q14088	OTTHUMG00000022391	OTTHUMG00000022391	ENST00000257017.4:c.341T>C	X.37:g.129318341T>C	ENSP00000257017:p.Val114Ala			p.V114A	NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN			2	755	+			114		Q5JUZ6|Q92465	Missense_Mutation	SNP	ENST00000257017.4	37	c.341T>C	CCDS14621.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.298518	0.81025	.	.	ENSG00000134594	ENST00000257017	D	0.81996	-1.56	4.71	4.71	0.59529	4.71	4.71	0.59529	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.89753	0.6806	M	0.69523	2.12	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.90910	0.4775	10	0.87932	D	0	-19.3113	13.6381	0.62233	0.0:0.0:0.0:1.0	.	114	Q14088	RB33A_HUMAN	A	114	ENSP00000257017:V114A	ENSP00000257017:V114A	V	+	2	0	0	RAB33A	129146022	129146022	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.997000	0.88414	1.663000	0.50791	0.350000	0.21858	GTC		0.502	RAB33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058246.1		73.718073	-9	-9	48	48	NM_004794		23	74.038824	74.038824	32	0.418182	0	0	0	1	0	23	32	0.418182
ZNF446	55663	broad.mit.edu	37	19	58991009	58991009	+	Splice_Site	SNP	G	G	C			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chr19:58991009G>C	ENST00000594369.1	+	5	1008		c.e5-1		ZNF446_ENST00000335841.4_Intron|ZNF446_ENST00000596341.1_Splice_Site	NM_017908.2	NP_060378.1	Q9NWS9	ZN446_HUMAN	zinc finger protein 446						regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.?(1)		endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CACATCCGCAGGAGGAGTGGG	0.582																																						ENST00000596341.1											1	Unknown(1)	endometrium(1)	endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8						c.e5-1	zinc finger protein 446						93.0	78.0	83.0					19																	58991009		2203	4300	6503	SO:0001630	splice_region_variant	55663			viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58991009G>C			CCDS12982.1	CCDS12982.1	19q13.43	2013-01-09			2013-01-09				ENSG00000083838		ENSG00000083838		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21036	21036	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_017908	NM_017908		Approved	ZKSCAN20, FLJ20626, ZSCAN52	uc002qsz.3	uc002qsz.3	Q9NWS9	Q9NWS9			ENST00000594369.1:c.628-1G>C	19.37:g.58991009G>C			ZNF446_ENST00000335841.4_Intron|ZNF446_ENST00000594369.1_Splice_Site				Q9NWS9	ZN446_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	5	2847	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)				Splice_Site	SNP	ENST00000594369.1	37		CCDS12982.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.131978	0.56828	.	.	ENSG00000083838	ENST00000335841;ENST00000540481;ENST00000391694	.	.	.	4.35	4.35	0.52113	4.35	4.35	0.52113	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5628	0.56293	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	ZNF446	63682821	63682821	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	2.745000	0.47459	2.423000	0.82170	0.561000	0.74099	.		0.582	ZNF446-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467052.1		24.026209	-9	-9	11	11	NM_017908	Intron	7	24.042947	24.042947	6	0.538462	0	0	0	1	0	7	6	0.538462
OSGIN1	29948	broad.mit.edu	37	16	83999242	83999242	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chr16:83999242A>G	ENST00000343939.2	+	7	1696	c.1313A>G	c.(1312-1314)tAt>tGt	p.Y438C	OSGIN1_ENST00000393306.1_Missense_Mutation_p.Y355C|OSGIN1_ENST00000361711.3_Missense_Mutation_p.Y355C|NECAB2_ENST00000305202.4_5'Flank			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	438					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)		growth factor activity (GO:0008083)			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						CCCAGCCCCTATGAGGGTTAC	0.617																																						ENST00000343939.2											0			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(1312-1314)tAt>tGt	oxidative stress induced growth inhibitor 1						87.0	79.0	82.0					16																	83999242		2200	4300	6500	SO:0001583	missense	29948			cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity	g.chr16:83999242A>G	AY258066	AY258066	CCDS10939.1	CCDS10939.1	16q23.3	2010-11-23			2010-11-23			ENSG00000140961	ENSG00000140961	ENSG00000140961	ENSG00000140961				30093	30093	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived growth inhibitor"", ""pregnancy induced growth inhibitor"""	"""bone marrow stromal cell-derived growth inhibitor"", ""pregnancy induced growth inhibitor"""	607975	607975						11459809, 14570898	11459809, 14570898	Standard	Standard	NM_182981	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	uc002fhc.3	Q9UJX0	Q9UJX0	OTTHUMG00000137640	OTTHUMG00000137640	ENST00000343939.2:c.1313A>G	16.37:g.83999242A>G	ENSP00000343376:p.Tyr438Cys		OSGIN1_ENST00000361711.3_Missense_Mutation_p.Y355C|OSGIN1_ENST00000393306.1_Missense_Mutation_p.Y355C	p.Y438C			Q9UJX0	OSGI1_HUMAN			7	1696	+			438		Q52M33|Q86UQ1|Q96S88|Q9BZ70	Missense_Mutation	SNP	ENST00000343939.2	37	c.1313A>G		.	.	.	.	.	.	.	.	.	.	A	16.91	3.253680	0.59212	.	.	ENSG00000140961	ENST00000343939;ENST00000361711;ENST00000393306	T;T;T	0.48201	0.82;0.82;0.82	4.8	3.65	0.41850	4.8	3.65	0.41850	.	0.125086	0.56097	D	0.000023	T	0.59252	0.2180	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.64042	0.921	T	0.59182	-0.7502	10	0.42905	T	0.14	-24.9902	10.0644	0.42295	0.85:0.0:0.0:0.1499	.	438	Q9UJX0	OSGI1_HUMAN	C	438;355;355	ENSP00000343376:Y438C;ENSP00000355374:Y355C;ENSP00000376983:Y355C	ENSP00000343376:Y438C	Y	+	2	0	0	OSGIN1	82556743	82556743	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	5.901000	0.69861	1.794000	0.52575	0.383000	0.25322	TAT		0.617	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1		60.160568	-22	-22	33	33	NM_013370		18	60.221462	60.221462	15	0.545455	0	0	0	1	0	18	15	0.545455
TWF2	11344	broad.mit.edu	37	3	52263159	52263159	+	Missense_Mutation	SNP	G	G	C			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chr3:52263159G>C	ENST00000305533.5	-	9	1184	c.941C>G	c.(940-942)cCc>cGc	p.P314R	TLR9_ENST00000597542.1_Intron|TWF2_ENST00000499914.2_3'UTR|TLR9_ENST00000494383.1_Intron|TLR9_ENST00000360658.2_5'Flank	NM_007284.3	NP_009215.1	Q6IBS0	TWF2_HUMAN	twinfilin actin-binding protein 2	314					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)		GTGTTGCTTGGGGTGCACCTC	0.642																																						ENST00000305533.5											0			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15						c.(940-942)cCc>cGc	twinfilin actin-binding protein 2						119.0	106.0	110.0					3																	52263159		2203	4300	6503	SO:0001583	missense	11344						g.chr3:52263159G>C	Y17169	Y17169	CCDS2849.1	CCDS2849.1	3p21.1	2013-04-25	2013-04-25	2006-11-13	2013-04-25	2013-04-25	2006-11-13	ENSG00000247596	ENSG00000247596	ENSG00000247596	ENSG00000247596				9621	9621	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607433	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	"""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	10406962, 12807912	Standard	Standard	NM_007284	NM_007284		Approved	A6RP, A6r			Q6IBS0	Q6IBS0	OTTHUMG00000158105	OTTHUMG00000158105	ENST00000305533.5:c.941C>G	3.37:g.52263159G>C	ENSP00000303908:p.Pro314Arg		TWF2_ENST00000499914.2_3'UTR|TLR9_ENST00000494383.1_Intron|TLR9_ENST00000597542.1_Intron	p.P314R	NM_007284.3	NP_009215.1				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	9	1184	-					Q9Y3F5	Missense_Mutation	SNP	ENST00000305533.5	37	c.941C>G	CCDS2849.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442530	0.83993	.	.	ENSG00000247596	ENST00000305533	T	0.31769	1.48	5.04	4.16	0.48862	5.04	4.16	0.48862	.	.	.	.	.	T	0.59838	0.2223	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67538	-0.5645	9	0.87932	D	0	.	13.3672	0.60692	0.0764:0.0:0.9236:0.0	.	314	Q6IBS0	TWF2_HUMAN	R	314	ENSP00000303908:P314R	ENSP00000303908:P314R	P	-	2	0	0	TWF2	52238199	52238199	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.824000	0.99380	1.120000	0.41904	0.561000	0.74099	CCC		0.642	TWF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350199.2		94.573558	-14	-14	92	92			29	98.79631	98.796310	2	0.935484	0	0	0	1	0	29	2	0.935484
DCAF8L2	347442	broad.mit.edu	37	X	27766141	27766141	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chrX:27766141G>A	ENST00000451261.2	+	5	1528	c.1129G>A	c.(1129-1131)Gcc>Acc	p.A377T		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	377										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						TGTGAATCCCGCCAATACCTA	0.408																																						ENST00000451261.2											0			central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						c.(1129-1131)Gcc>Acc	DDB1 and CUL4 associated factor 8-like 2						107.0	80.0	89.0					X																	27766141		692	1591	2283	SO:0001583	missense	347442						g.chrX:27766141G>A			CCDS59162.1	CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		ENSG00000189186		"""WD repeat domain containing"""	"""WD repeat domain containing"""	31811	31811	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""WD repeat domain 42C"""	WDR42C	"""WD repeat domain 42C"""	WDR42C				Standard	Standard	NM_001136533	NM_001136533		Approved		uc011mjy.2	uc011mjy.2	P0C7V8	P0C7V8			ENST00000451261.2:c.1129G>A	X.37:g.27766141G>A	ENSP00000462745:p.Ala377Thr			p.A377T	NM_001136533.1	NP_001130005.1					5	1528	+					B2RXH9|J3KT06	Missense_Mutation	SNP	ENST00000451261.2	37	c.1129G>A	CCDS59162.1																																																																																									0.408	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4		-0.507307	4	4	62	62	XM_293354		3	7.172112	7.172112	38	0.073171	0	0	0	1	0	3	38	0.073171
C8orf31	286122	broad.mit.edu	37	8	144124604	144124604	+	Silent	SNP	G	G	A			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chr8:144124604G>A	ENST00000395172.1	+	3	463	c.111G>A	c.(109-111)ggG>ggA	p.G37G	C8orf31_ENST00000517653.1_3'UTR	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	37										breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GGGCCCAGGGGCTGCTGGCTG	0.642																																						ENST00000395172.1											0			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10						c.(109-111)ggG>ggA	chromosome 8 open reading frame 31						36.0	39.0	38.0					8																	144124604		2203	4300	6503	SO:0001819	synonymous_variant	286122						g.chr8:144124604G>A			CCDS6395.1	CCDS6395.1	8q24.3	2012-04-11			2012-04-11			ENSG00000177335	ENSG00000177335	ENSG00000177335	ENSG00000177335				26731	26731	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_173687	NM_173687		Approved	FLJ37131	uc003yxp.1	uc003yxp.1	Q8N9H6	Q8N9H6	OTTHUMG00000164771	OTTHUMG00000164771	ENST00000395172.1:c.111G>A	8.37:g.144124604G>A			C8orf31_ENST00000517653.1_3'UTR	p.G37G	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN			3	463	+	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		37		Q6GMU7	Silent	SNP	ENST00000395172.1	37	c.111G>A	CCDS6395.1																																																																																									0.642	C8orf31-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380167.1		73.929014	-1	-1	20	20	NM_173687		23	74.203306	74.203306	16	0.589744	0	0	0	1	0	23	16	0.589744
TMEM2	23670	broad.mit.edu	37	9	74324303	74324303	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chr9:74324303T>C	ENST00000377044.4	-	17	3396	c.2857A>G	c.(2857-2859)Att>Gtt	p.I953V	TMEM2_ENST00000377066.5_Missense_Mutation_p.I890V	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	953					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GAGCCATCAATGTCATGGAAT	0.448																																						ENST00000377044.4											0			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56						c.(2857-2859)Att>Gtt	transmembrane protein 2						219.0	184.0	195.0					9																	74324303		2203	4300	6503	SO:0001583	missense	23670				integral to membrane		g.chr9:74324303T>C			CCDS6638.1, CCDS47979.1	CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			2011-07-19			ENSG00000135048	ENSG00000135048	ENSG00000135048	ENSG00000135048				11869	11869	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605835	605835								Standard	Standard	NM_013390	NM_013390		Approved		uc011lsa.1	uc011lsa.1	Q9UHN6	Q9UHN6	OTTHUMG00000020000	OTTHUMG00000020000	ENST00000377044.4:c.2857A>G	9.37:g.74324303T>C	ENSP00000366243:p.Ile953Val		TMEM2_ENST00000377066.5_Missense_Mutation_p.I890V	p.I953V	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	17	3396	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	953		A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.2857A>G	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	T	0.803	-0.754578	0.03041	.	.	ENSG00000135048	ENST00000377044;ENST00000377066;ENST00000377043	T;T;T	0.42900	0.96;0.96;0.96	5.67	-5.47	0.02600	5.67	-5.47	0.02600	Pectin lyase fold/virulence factor (1);	0.901261	0.09718	N	0.764883	T	0.08758	0.0217	N	0.00224	-1.81	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44034	-0.9354	10	0.02654	T	1	.	13.5683	0.61832	0.0:0.6285:0.1083:0.2632	.	953;890	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	V	953;890;54	ENSP00000366243:I953V;ENSP00000366266:I890V;ENSP00000366242:I54V	ENSP00000366242:I54V	I	-	1	0	0	TMEM2	73514123	73514123	0.000000	0.05858	0.001000	0.08648	0.904000	0.53231	-1.121000	0.03270	-0.943000	0.03691	-0.479000	0.04858	ATT		0.448	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2		82.986282	-9	-9	70	70	NM_013390		28	83.113316	83.113316	34	0.451613	0	0	0	1	0	28	34	0.451613
CDH4	1002	broad.mit.edu	37	20	60470052	60470065	+	Frame_Shift_Del	DEL	CATCACGGTGACAG	CATCACGGTGACAG	-	rs149375024|rs145754297		TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	g.chr20:60470052_60470065delCATCACGGTGACAG	ENST00000360469.5	+	8	1225_1238	c.1137_1150delCATCACGGTGACAG	c.(1135-1152)atcatcacggtgacagatfs	p.ITVTD380fs	CDH4_ENST00000543233.1_Frame_Shift_Del_p.ITVTD306fs	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	380	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|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(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCACAGCCATCATCACGGTGACAGATGTGAATGA	0.547																																						ENST00000360469.5											0			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(1135-1152)atcatcacggtgacagatfs	cadherin 4, type 1, R-cadherin (retinal)																																			SO:0001589	frameshift_variant	1002			adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60470052_60470065delCATCACGGTGACAG	L34059	L34059	CCDS13488.1, CCDS58784.1	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			2010-01-26			ENSG00000179242	ENSG00000179242	ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	"""Cadherins / Major cadherins"""	1763	1763	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""R-Cadherin"""	"""R-Cadherin"""	603006	603006						10191097, 10516427	10191097, 10516427	Standard	Standard	NM_001794	NM_001794		Approved		uc002ybn.2	uc002ybn.2	P55283	P55283	OTTHUMG00000032890	OTTHUMG00000032890	ENST00000360469.5:c.1137_1150delCATCACGGTGACAG	20.37:g.60470052_60470065delCATCACGGTGACAG	ENSP00000353656:p.Ile380fs		CDH4_ENST00000543233.1_Frame_Shift_Del_p.ITVTD306fs	p.ITVTD380fs	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		8	1225_1238	+			380	Cadherin 2.	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Frame_Shift_Del	DEL	ENST00000360469.5	37	c.1137_1150delCATCACGGTGACAG	CCDS13488.1																																																																																									0.547	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	.	.	-33	-33	127	127	NM_001794		28			73	0.28						28	73	0.28
