#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
PPP2R5D	5528	broad.mit.edu	37	6	42978205	42978205	+	Splice_Site	SNP	G	G	C			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr6:42978205G>C	ENST00000485511.1	+	13	1558		c.e13-1		PPP2R5D_ENST00000472118.1_Splice_Site|PPP2R5D_ENST00000394110.3_Splice_Site|PPP2R5D_ENST00000461010.1_Splice_Site	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta						carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CTTGGTGGCAGGACAATCCAT	0.463																																					Melanoma(63;587 1613 29742 31770)	ENST00000485511.1																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25						c.e13-1		protein phosphatase 2, regulatory subunit B', delta							102.0	96.0	98.0					6																	42978205		2203	4300	6503	SO:0001630	splice_region_variant	5528				nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr6:42978205G>C	L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9312	protein-coding gene	gene with protein product		601646	"""protein phosphatase 2, regulatory subunit B (B56), delta isoform"", ""protein phosphatase 2, regulatory subunit B', delta isoform"""			7592815	Standard	NM_006245		Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.1380-1G>C	6.37:g.42978205G>C			Somatic				PPP2R5D_ENST00000394110.3_Splice_Site|PPP2R5D_ENST00000461010.1_Splice_Site|PPP2R5D_ENST00000472118.1_Splice_Site		NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	WXS	Illumina GAIIx	Phase_I	Q14738	2A5D_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		13	1558	+								A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Splice_Site	SNP	ENST00000485511.1	37		CCDS4878.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378693	0.82682	.	.	ENSG00000112640	ENST00000485511;ENST00000394110;ENST00000472118;ENST00000541610;ENST00000461010;ENST00000470467;ENST00000486843	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1922	0.89810	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPP2R5D	43086183	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.657000	0.98554	2.525000	0.85131	0.655000	0.94253	.		0.463	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040573.3	NM_006245	Intron	18	51	0	0	0	1	0	18	51				
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	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	Mis	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""			E			uveal melanoma		82	Substitution - Missense(82)	p.Q209L(80)|p.Q209P(2)	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	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		Somatic				GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	p.Q209L	NM_002067.2	NP_002058.2	WXS	Illumina GAIIx	Phase_I	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	.	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	GNA11	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	NM_002067		20	19	0	0	0	1	0	20	19				
SF3B1	23451	broad.mit.edu	37	2	198267372	198267372	+	Missense_Mutation	SNP	T	T	C			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr2:198267372T>C	ENST00000335508.6	-	14	2076	c.1985A>G	c.(1984-1986)cAc>cGc	p.H662R	SF3B1_ENST00000462613.1_5'Flank|SNORA4_ENST00000365564.1_RNA	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	662					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AATACCAGTGTGTCTCGCTTG	0.428			Mis		myelodysplastic syndrome																																	ENST00000335508.6				Dom	yes		2	2q33.1	23451	Mis	"""splicing factor 3b, subunit 1, 155kDa"""			L			myelodysplastic syndrome		0				NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1984-1986)cAc>cGc		splicing factor 3b, subunit 1, 155kDa							122.0	121.0	121.0					2																	198267372		2203	4300	6503	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267372T>C	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.1985A>G	2.37:g.198267372T>C	ENSP00000335321:p.His662Arg		Somatic					p.H662R	NM_012433.2	NP_036565.2	WXS	Illumina GAIIx	Phase_I	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	2076	-								E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1985A>G	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614325	0.87359	.	.	ENSG00000115524	ENST00000335508	T	0.63417	-0.04	5.68	5.68	0.88126	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85788	0.5778	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90385	0.4391	10	0.87932	D	0	.	15.938	0.79729	0.0:0.0:0.0:1.0	.	662	O75533	SF3B1_HUMAN	R	662	ENSP00000335321:H662R	ENSP00000335321:H662R	H	-	2	0	SF3B1	197975617	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.877000	0.87225	2.167000	0.68274	0.459000	0.35465	CAC		0.428	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			29	28	0	0	0	1	0	29	28				
TRIM29	23650	broad.mit.edu	37	11	119996547	119996547	+	Silent	SNP	G	G	T			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr11:119996547G>T	ENST00000341846.5	-	4	1606	c.1185C>A	c.(1183-1185)acC>acA	p.T395T	TRIM29_ENST00000541857.1_Silent_p.T128T|TRIM29_ENST00000529044.1_Silent_p.T134T|TRIM29_ENST00000528870.1_5'Flank|TRIM29_ENST00000524816.3_5'Flank	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	395					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GGACATGATAGGTGGGCAGGG	0.522																																						ENST00000341846.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						c.(1183-1185)acC>acA		tripartite motif containing 29							68.0	62.0	64.0					11																	119996547		2199	4295	6494	SO:0001819	synonymous_variant	23650				transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:119996547G>T	AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"""Tripartite motif containing / Tripartite motif containing"""	17274	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM29"", ""ataxia-telangiectasia group D-associated protein"""	610658	"""tripartite motif-containing 29"""			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.1185C>A	11.37:g.119996547G>T			Somatic				TRIM29_ENST00000541857.1_Silent_p.T128T|TRIM29_ENST00000529044.1_Silent_p.T134T	p.T395T	NM_012101.3	NP_036233.2	WXS	Illumina GAIIx	Phase_I	Q14134	TRI29_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)	4	1606	-		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	395					Q96AA9|Q9BZY7	Silent	SNP	ENST00000341846.5	37	c.1185C>A	CCDS8428.1																																																																																				0.522	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101		22	18	1	0	4.26978e-12	1	4.26978e-12	22	18				
SLIT2	9353	broad.mit.edu	37	4	20255451	20255451	+	Missense_Mutation	SNP	G	G	T			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr4:20255451G>T	ENST00000504154.1	+	1	265	c.13G>T	c.(13-15)Ggc>Tgc	p.G5C	SLIT2_ENST00000273739.5_Missense_Mutation_p.G5C|SLIT2_ENST00000503823.1_Missense_Mutation_p.G5C|SLIT2_ENST00000503837.1_Missense_Mutation_p.G5C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	5					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GCGCGGCGTTGGCTGGCAGAT	0.667																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(13-15)Ggc>Tgc		slit homolog 2 (Drosophila)							90.0	72.0	78.0					4																	20255451		2203	4299	6502	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20255451G>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.13G>T	4.37:g.20255451G>T	ENSP00000422591:p.Gly5Cys		Somatic				SLIT2_ENST00000503823.1_Missense_Mutation_p.G5C|SLIT2_ENST00000273739.5_Missense_Mutation_p.G5C|SLIT2_ENST00000503837.1_Missense_Mutation_p.G5C	p.G5C	NM_004787.1	NP_004778.1	WXS	Illumina GAIIx	Phase_I	O94813	SLIT2_HUMAN			1	265	+			5					B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.13G>T	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893381	0.72524	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.81247	-1.46;-1.47;-1.38;-1.43	3.99	3.14	0.36123	.	0.390725	0.24889	N	0.034796	T	0.81148	0.4762	L	0.36672	1.1	0.28435	N	0.917068	D;D	0.63046	0.992;0.986	P;P	0.61003	0.882;0.766	T	0.74213	-0.3738	10	0.87932	D	0	.	9.4262	0.38581	0.1069:0.0:0.8931:0.0	.	5;5	O94813-3;O94813	.;SLIT2_HUMAN	C	5	ENSP00000427548:G5C;ENSP00000422591:G5C;ENSP00000273739:G5C;ENSP00000422261:G5C	ENSP00000273739:G5C	G	+	1	0	SLIT2	19864549	1.000000	0.71417	0.838000	0.33150	0.816000	0.46133	4.448000	0.60027	1.023000	0.39654	0.313000	0.20887	GGC		0.667	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			34	42	1	0	8.16277e-20	1	8.53381e-20	34	42				
PPL	5493	broad.mit.edu	37	16	4935851	4935851	+	Missense_Mutation	SNP	C	C	G	rs562326612		TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr16:4935851C>G	ENST00000345988.2	-	22	2894	c.2805G>C	c.(2803-2805)aaG>aaC	p.K935N	PPL_ENST00000590782.2_Missense_Mutation_p.K933N	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	935					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGAGCACCTCCTTCCTCACCA	0.612																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(2803-2805)aaG>aaC		periplakin							95.0	101.0	99.0					16																	4935851		2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4935851C>G	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.2805G>C	16.37:g.4935851C>G	ENSP00000340510:p.Lys935Asn		Somatic				PPL_ENST00000590782.2_Missense_Mutation_p.K933N	p.K935N	NM_002705.4	NP_002696	WXS	Illumina GAIIx	Phase_I	O60437	PEPL_HUMAN			22	2894	-			935					O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.2805G>C	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.131558	0.37630	.	.	ENSG00000118898	ENST00000345988	T	0.60424	0.19	5.2	2.87	0.33458	.	0.114864	0.64402	D	0.000020	T	0.58148	0.2102	M	0.71581	2.175	0.46185	D	0.998919	P	0.46706	0.883	B	0.44224	0.444	T	0.62992	-0.6736	10	0.46703	T	0.11	.	12.2294	0.54478	0.0:0.7816:0.0:0.2184	.	935	O60437	PEPL_HUMAN	N	935	ENSP00000340510:K935N	ENSP00000340510:K935N	K	-	3	2	PPL	4875852	1.000000	0.71417	0.991000	0.47740	0.484000	0.33280	2.000000	0.40816	1.199000	0.43173	0.555000	0.69702	AAG		0.612	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		38	34	0	0	0	1	0	38	34				
TF	7018	broad.mit.edu	37	3	133473498	133473498	+	Missense_Mutation	SNP	G	G	A	rs371174384		TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr3:133473498G>A	ENST00000402696.3	+	4	970	c.485G>A	c.(484-486)cGt>cAt	p.R162H	TFP1_ENST00000460564.1_RNA|TF_ENST00000475382.1_3'UTR|TF_ENST00000264998.3_Missense_Mutation_p.R35H	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	162	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	CCTGAGCCACGTAAACCTCTT	0.567																																						ENST00000402696.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(484-486)cGt>cAt		transferrin	Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	G	HIS/ARG	0,4406		0,0,2203	138.0	138.0	138.0		485	-0.1	0.0	3		138	1,8599	1.2+/-3.3	0,1,4299	no	missense	TF	NM_001063.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	162/699	133473498	1,13005	2203	4300	6503	SO:0001583	missense	7018				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	g.chr3:133473498G>A		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.485G>A	3.37:g.133473498G>A	ENSP00000385834:p.Arg162His		Somatic				TF_ENST00000264998.3_Missense_Mutation_p.R35H|TF_ENST00000475382.1_3'UTR	p.R162H	NM_001063.3	NP_001054	WXS	Illumina GAIIx	Phase_I	P02787	TRFE_HUMAN			4	970	+			162			Transferrin-like 1.		O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	ENST00000402696.3	37	c.485G>A	CCDS3080.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184348	0.57800	0.0	1.16E-4	ENSG00000091513	ENST00000402696;ENST00000482271;ENST00000264998	T;T;T	0.34275	1.37;1.37;1.37	5.25	-0.0568	0.13803	.	0.694749	0.15001	N	0.286124	T	0.35913	0.0948	M	0.81802	2.56	0.09310	N	0.999999	B	0.19583	0.037	B	0.17433	0.018	T	0.33854	-0.9852	10	0.45353	T	0.12	-1.2792	6.9194	0.24378	0.1599:0.1833:0.6568:0.0	.	162	P02787	TRFE_HUMAN	H	162;35;35	ENSP00000385834:R162H;ENSP00000419338:R35H;ENSP00000264998:R35H	ENSP00000264998:R35H	R	+	2	0	TF	134956188	0.002000	0.14202	0.049000	0.19019	0.950000	0.60333	0.239000	0.18023	0.092000	0.17331	0.561000	0.74099	CGT		0.567	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		53	56	0	0	0	1	0	53	56				
CDR2L	30850	broad.mit.edu	37	17	72997556	72997556	+	Missense_Mutation	SNP	A	A	G			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr17:72997556A>G	ENST00000337231.5	+	3	725	c.313A>G	c.(313-315)Agt>Ggt	p.S105G		NM_014603.2	NP_055418.2	Q86X02	CDR2L_HUMAN	cerebellar degeneration-related protein 2-like	105												all_lung(278;0.226)					GGTGCTGGAGAGTAAGGCTGC	0.667																																						ENST00000337231.5																			0											c.(313-315)Agt>Ggt		cerebellar degeneration-related protein 2-like							34.0	25.0	28.0					17																	72997556		2200	4291	6491	SO:0001583	missense	30850							g.chr17:72997556A>G		CCDS11710.2	17q25.1	2006-03-28			ENSG00000109089	ENSG00000109089			29999	protein-coding gene	gene with protein product	"""paraneoplastic antigen"""						Standard	NM_014603		Approved	HUMPPA	uc002jml.4	Q86X02	OTTHUMG00000150435	ENST00000337231.5:c.313A>G	17.37:g.72997556A>G	ENSP00000336587:p.Ser105Gly		Somatic					p.S105G	NM_014603.2	NP_055418.2	WXS	Illumina GAIIx	Phase_I	Q86X02	CDR2L_HUMAN			3	725	+	all_lung(278;0.226)		105					B4DFA7|Q15175	Missense_Mutation	SNP	ENST00000337231.5	37	c.313A>G	CCDS11710.2	.	.	.	.	.	.	.	.	.	.	A	26.3	4.724429	0.89298	.	.	ENSG00000109089	ENST00000337231	T	0.49432	0.78	5.08	5.08	0.68730	.	0.039313	0.85682	D	0.000000	T	0.56062	0.1960	M	0.81942	2.565	0.45979	D	0.998799	P	0.50443	0.935	P	0.45639	0.488	T	0.62544	-0.6832	10	0.42905	T	0.14	-8.4286	15.1448	0.72641	1.0:0.0:0.0:0.0	.	105	Q86X02	CDR2L_HUMAN	G	105	ENSP00000336587:S105G	ENSP00000336587:S105G	S	+	1	0	CDR2L	70509151	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.526000	0.81920	2.032000	0.59987	0.477000	0.44152	AGT		0.667	CDR2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318080.1	NM_014603		3	6	0	0	0	1	0	3	6				
VWA7	80737	broad.mit.edu	37	6	31736929	31736929	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr6:31736929G>A	ENST00000375688.4	-	10	1569	c.1369C>T	c.(1369-1371)Cgt>Tgt	p.R457C	VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375686.3_Missense_Mutation_p.R457C|VWA7_ENST00000447450.1_Missense_Mutation_p.R457C			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	457	VWFA.					extracellular region (GO:0005576)											AAGATCTCACGCCGAGCTCGA	0.537																																						ENST00000375686.3																			0											c.(1369-1371)Cgt>Tgt		von Willebrand factor A domain containing 7							158.0	110.0	128.0					6																	31736929		1511	2709	4220	SO:0001583	missense	80737					extracellular region		g.chr6:31736929G>A		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.1369C>T	6.37:g.31736929G>A	ENSP00000364840:p.Arg457Cys		Somatic				VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000447450.1_Missense_Mutation_p.R457C|VWA7_ENST00000375688.4_Missense_Mutation_p.R457C	p.R457C	NM_025258.2	NP_079534.2	WXS	Illumina GAIIx	Phase_I	Q9Y334	G7C_HUMAN			10	1606	-			457					A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	ENST00000375688.4	37	c.1369C>T	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016370	0.35606	.	.	ENSG00000204396	ENST00000375688;ENST00000375686;ENST00000447450	T;T;T	0.37235	2.4;2.2;1.21	5.65	3.69	0.42338	von Willebrand factor, type A (1);	0.053832	0.64402	N	0.000002	T	0.44561	0.1299	M	0.76574	2.34	0.33305	D	0.565278	D	0.89917	1.0	D	0.87578	0.998	T	0.51371	-0.8714	10	0.72032	D	0.01	-4.633	7.9599	0.30066	0.0873:0.0:0.6873:0.2254	.	457	Q9Y334	G7C_HUMAN	C	457	ENSP00000364840:R457C;ENSP00000364838:R457C;ENSP00000390554:R457C	ENSP00000364838:R457C	R	-	1	0	C6orf27	31844908	0.991000	0.36638	0.865000	0.33974	0.094000	0.18550	2.377000	0.44300	1.399000	0.46721	-0.379000	0.06801	CGT		0.537	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258		12	31	0	0	0	1	0	12	31				
DCUN1D2	55208	broad.mit.edu	37	13	114115432	114115432	+	Silent	SNP	C	C	T			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr13:114115432C>T	ENST00000478244.1	-	5	822	c.540G>A	c.(538-540)gcG>gcA	p.A180A	DCUN1D2_ENST00000332592.3_Silent_p.A47A	NM_001014283.1	NP_001014305.1	Q6PH85	DCNL2_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 2	180	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.									breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)			ATTTCCAATACGCAACAGCCA	0.383																																						ENST00000332592.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7						c.(139-141)gcG>gcA		DCN1, defective in cullin neddylation 1, domain containing 2							100.0	101.0	101.0					13																	114115432		2202	4300	6502	SO:0001819	synonymous_variant	55208							g.chr13:114115432C>T	AK001566	CCDS32013.1	13q34	2013-06-10	2013-06-10	2005-10-04	ENSG00000150401	ENSG00000150401			20328	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 17"", ""DCN1, defective in cullin neddylation 1, domain containing 2 (S. cerevisiae)"""	C13orf17		15988528	Standard	XM_005268320		Approved	FLJ10704, FLJ20092	uc001vtr.1	Q6PH85	OTTHUMG00000017390	ENST00000478244.1:c.540G>A	13.37:g.114115432C>T			Somatic				DCUN1D2_ENST00000478244.1_Silent_p.A180A	p.A47A			WXS	Illumina GAIIx	Phase_I	Q6PH85	DCNL2_HUMAN	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)		3	175	-	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	180					Q5JSA5|Q5JSA6|Q5JSA7|Q9NVJ1|Q9NXR6	Silent	SNP	ENST00000478244.1	37	c.141G>A	CCDS32013.1																																																																																				0.383	DCUN1D2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045938.4	NM_018185		14	17	0	0	0	1	0	14	17				
SDHAP1	255812	broad.mit.edu	37	3	195692347	195692347	+	RNA	SNP	G	G	A	rs62282794		TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr3:195692347G>A	ENST00000427841.1	-	0	2155					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		TTCCTCCAGTGCTCCTCAAAG	0.572																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195692347G>A	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195692347G>A			Somatic						NR_003264.2		WXS	Illumina GAIIx	Phase_I					0	2155	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.572	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			3	10	0	0	0	1	0	3	10				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G			Somatic						NR_003086.1		WXS	Illumina GAIIx	Phase_I					0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	40	0	0	0	1	0	3	40				
ABCA4	24	broad.mit.edu	37	1	94512515	94512515	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr1:94512515C>T	ENST00000370225.3	-	19	2964	c.2878G>A	c.(2878-2880)Gca>Aca	p.A960T	ABCA4_ENST00000535735.1_Missense_Mutation_p.A886T	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	960	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCCAGGAATGCGGTGATCTGG	0.537																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(2878-2880)Gca>Aca		ATP-binding cassette, sub-family A (ABC1), member 4							136.0	136.0	136.0					1																	94512515		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94512515C>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.2878G>A	1.37:g.94512515C>T	ENSP00000359245:p.Ala960Thr		Somatic				ABCA4_ENST00000535735.1_Missense_Mutation_p.A886T	p.A960T	NM_000350.2	NP_000341.2	WXS	Illumina GAIIx	Phase_I	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	19	2964	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	960			ABC transporter 1.		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.2878G>A	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.402280	0.83230	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.94758	-3.51;-3.22	5.48	5.48	0.80851	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.106561	0.64402	D	0.000004	D	0.95723	0.8609	L	0.60455	1.87	0.33502	D	0.59009	D;P	0.76494	0.999;0.923	P;B	0.62184	0.899;0.295	D	0.95837	0.8863	10	0.87932	D	0	.	19.3482	0.94373	0.0:1.0:0.0:0.0	.	886;960	F5H6E5;P78363	.;ABCA4_HUMAN	T	960;886	ENSP00000359245:A960T;ENSP00000437682:A886T	ENSP00000359245:A960T	A	-	1	0	ABCA4	94285103	0.443000	0.25641	0.232000	0.24009	0.964000	0.63967	0.969000	0.29370	2.572000	0.86782	0.655000	0.94253	GCA		0.537	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		4	115	0	0	0	1	0	4	115				
FOXC1	2296	broad.mit.edu	37	6	1612302	1612302	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr6:1612302G>A	ENST00000380874.2	+	1	1622	c.1622G>A	c.(1621-1623)cGc>cAc	p.R541H		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	541					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		TCTCTGTACCGCACGTCCGGA	0.512																																					Pancreas(133;719 1821 3197 26645 35015)	ENST00000380874.2																			0				large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						c.(1621-1623)cGc>cAc		forkhead box C1							87.0	76.0	80.0					6																	1612302		2203	4300	6503	SO:0001583	missense	2296				anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr6:1612302G>A	AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"""Forkhead boxes"""	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.1622G>A	6.37:g.1612302G>A	ENSP00000370256:p.Arg541His		Somatic					p.R541H	NM_001453.2	NP_001444.2	WXS	Illumina GAIIx	Phase_I	Q12948	FOXC1_HUMAN		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)	1	1622	+	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	541					Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	Missense_Mutation	SNP	ENST00000380874.2	37	c.1622G>A	CCDS4473.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293132	0.80914	.	.	ENSG00000054598	ENST00000380874	D	0.83335	-1.71	3.74	3.74	0.42951	.	0.000000	0.64402	U	0.000004	T	0.81278	0.4789	L	0.41492	1.28	0.58432	D	0.999998	D	0.71674	0.998	P	0.57324	0.818	D	0.84583	0.0662	10	0.87932	D	0	.	15.3353	0.74247	0.0:0.0:1.0:0.0	.	541	Q12948	FOXC1_HUMAN	H	541	ENSP00000370256:R541H	ENSP00000370256:R541H	R	+	2	0	FOXC1	1557301	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.107000	0.71517	1.941000	0.56285	0.448000	0.29417	CGC		0.512	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043450.1			3	51	0	0	0	1	0	3	51				
CELSR2	1952	broad.mit.edu	37	1	109803788	109803788	+	Silent	SNP	G	G	A			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr1:109803788G>A	ENST00000271332.3	+	3	4144	c.4083G>A	c.(4081-4083)gaG>gaA	p.E1361E		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1361	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GAGACTTCGAGAAGCCCTACT	0.632																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(4081-4083)gaG>gaA		cadherin, EGF LAG seven-pass G-type receptor 2							99.0	97.0	98.0					1																	109803788		2203	4300	6503	SO:0001819	synonymous_variant	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109803788G>A	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.4083G>A	1.37:g.109803788G>A			Somatic					p.E1361E	NM_001408.2	NP_001399.1	WXS	Illumina GAIIx	Phase_I	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	3	4144	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1361			EGF-like 3; calcium-binding.		Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.4083G>A	CCDS796.1																																																																																				0.632	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		37	40	0	0	0	1	0	37	40				
CLEC4M	10332	broad.mit.edu	37	19	7833752	7833752	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr19:7833752C>T	ENST00000327325.5	+	7	1196	c.1078C>T	c.(1078-1080)Ccc>Tcc	p.P360S	CLEC4M_ENST00000359059.5_Missense_Mutation_p.P293S|CLEC4M_ENST00000357361.2_Missense_Mutation_p.T322I|CLEC4M_ENST00000596363.1_Missense_Mutation_p.T294I|CLEC4M_ENST00000596707.1_Missense_Mutation_p.P293S|CLEC4M_ENST00000597522.1_Missense_Mutation_p.T230I|CLEC4M_ENST00000394122.2_Missense_Mutation_p.P348S|CLEC4M_ENST00000248228.4_Missense_Mutation_p.P338S|CLEC4M_ENST00000334806.5_Missense_Mutation_p.P309S|CLEC4M_ENST00000595496.1_Missense_Mutation_p.P224S	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	360	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						CAGTGGAGAACCCAACAATAG	0.512																																						ENST00000327325.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						c.(1078-1080)Ccc>Tcc		C-type lectin domain family 4, member M							165.0	152.0	157.0					19																	7833752		2203	4300	6503	SO:0001583	missense	10332				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	g.chr19:7833752C>T	AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"""C-type lectin domain containing"", ""CD molecules"""	13523	protein-coding gene	gene with protein product		605872	"""CD299 antigen"""	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.1078C>T	19.37:g.7833752C>T	ENSP00000316228:p.Pro360Ser		Somatic				CLEC4M_ENST00000597522.1_Missense_Mutation_p.T230I|CLEC4M_ENST00000357361.2_Missense_Mutation_p.T322I|CLEC4M_ENST00000248228.4_Missense_Mutation_p.P338S|CLEC4M_ENST00000334806.5_Missense_Mutation_p.P309S|CLEC4M_ENST00000359059.5_Missense_Mutation_p.P293S|CLEC4M_ENST00000596707.1_Missense_Mutation_p.P293S|CLEC4M_ENST00000595496.1_Missense_Mutation_p.P224S|CLEC4M_ENST00000394122.2_Missense_Mutation_p.P348S|CLEC4M_ENST00000596363.1_Missense_Mutation_p.T294I	p.P360S	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	WXS	Illumina GAIIx	Phase_I	Q9H2X3	CLC4M_HUMAN			7	1196	+			360			C-type lectin.		A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Missense_Mutation	SNP	ENST00000327325.5	37	c.1078C>T	CCDS12187.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.36|14.36	2.511621|2.511621	0.44660|0.44660	.|.	.|.	ENSG00000104938|ENSG00000104938	ENST00000327325;ENST00000394122;ENST00000248228;ENST00000334806;ENST00000359059|ENST00000357361	T;T;T;T;T|T	0.70631|0.03358	-0.5;-0.5;-0.5;-0.5;-0.5|3.96	2.46|2.46	2.46|2.46	0.29980|0.29980	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);|.	.|.	.|.	.|.	.|.	T|T	0.03915|0.03915	0.0110|0.0110	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	D;D;D;D;D;D|B;B	0.89917|0.23735	0.996;0.999;1.0;1.0;1.0;0.999|0.09;0.062	D;D;D;D;D;D|B;B	0.97110|0.23716	0.968;0.991;1.0;1.0;0.997;0.991|0.048;0.03	T|T	0.33111|0.33111	-0.9881|-0.9881	8|8	0.87932|0.87932	D|D	0|0	.|.	8.5871|8.5871	0.33664|0.33664	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	309;293;360;348;337;224|294;230	B4E2Z5;Q9H2X3-5;Q9H2X3;E7ENS9;Q9H2X3-8;Q9H2X3-7|Q9H2X3-9;Q9H2X3-4	.;.;CLC4M_HUMAN;.;.;.|.;.	S|I	360;348;338;309;293|322	ENSP00000316228:P360S;ENSP00000377680:P348S;ENSP00000248228:P338S;ENSP00000335228:P309S;ENSP00000351954:P293S|ENSP00000349924:T322I	ENSP00000248228:P338S|ENSP00000349924:T322I	P|T	+|+	1|2	0|0	CLEC4M|CLEC4M	7739752|7739752	0.699000|0.699000	0.27786|0.27786	0.209000|0.209000	0.23619|0.23619	0.004000|0.004000	0.04260|0.04260	2.972000|2.972000	0.49256|0.49256	1.700000|1.700000	0.51204|0.51204	0.306000|0.306000	0.20318|0.20318	CCC|ACC		0.512	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1	NM_014257		18	19	0	0	0	1	0	18	19				
RYR3	6263	broad.mit.edu	37	15	33962623	33962623	+	Missense_Mutation	SNP	T	T	G			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr15:33962623T>G	ENST00000389232.4	+	38	5796	c.5726T>G	c.(5725-5727)gTt>gGt	p.V1909G	RYR3_ENST00000415757.3_Missense_Mutation_p.V1909G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1909	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.V1909G(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGCTAGGGGTTCCTTTggaa	0.473																																						ENST00000389232.4																			1	Substitution - Missense(1)	p.V1909G(1)	kidney(1)	NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(5725-5727)gTt>gGt		ryanodine receptor 3							29.0	34.0	33.0					15																	33962623		1904	4132	6036	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33962623T>G		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5726T>G	15.37:g.33962623T>G	ENSP00000373884:p.Val1909Gly		Somatic				RYR3_ENST00000415757.3_Missense_Mutation_p.V1909G	p.V1909G	NM_001036.3	NP_001027.3	WXS	Illumina GAIIx	Phase_I	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	38	5796	+		all_lung(180;7.18e-09)	1909			4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.5726T>G	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	T	15.07	2.722948	0.48728	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.68025	-0.3;-0.25	5.99	5.99	0.97316	.	0.238660	0.33610	N	0.004737	T	0.60418	0.2267	L	0.43923	1.385	0.58432	D	0.999993	B;B	0.29766	0.256;0.0	B;B	0.24848	0.056;0.0	T	0.61667	-0.7016	10	0.72032	D	0.01	.	15.6603	0.77182	0.0:0.0:0.0:1.0	.	1909;1909	Q15413-2;Q15413	.;RYR3_HUMAN	G	1909	ENSP00000373884:V1909G;ENSP00000399610:V1909G	ENSP00000354735:V1909G	V	+	2	0	RYR3	31749915	1.000000	0.71417	0.995000	0.50966	0.576000	0.36127	5.995000	0.70631	2.284000	0.76573	0.528000	0.53228	GTT		0.473	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			6	15	0	0	0	1	0	6	15				
ATAD2B	54454	broad.mit.edu	37	2	24046157	24046160	+	Frame_Shift_Del	DEL	GCAT	GCAT	-			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr2:24046157_24046160delGCAT	ENST00000238789.5	-	16	2442_2445	c.2099_2102delATGC	c.(2098-2103)catgctfs	p.HA700fs	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	700						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTAATTTCAGCATGAGGAAACAC	0.368																																						ENST00000238789.5																			0				central_nervous_system(1)	1						c.(2098-2103)catgctfs		ATPase family, AAA domain containing 2B																																				SO:0001589	frameshift_variant	54454						ATP binding|nucleoside-triphosphatase activity	g.chr2:24046157_24046160delGCAT	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.2099_2102delATGC	2.37:g.24046157_24046160delGCAT	ENSP00000238789:p.His700fs		Somatic				ATAD2B_ENST00000474583.1_5'UTR	p.HA700fs	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	WXS	Illumina GAIIx	Phase_I	Q9ULI0	ATD2B_HUMAN			16	2442_2445	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		700					B9ZVQ5|Q6ZNA6|Q8N9E7	Frame_Shift_Del	DEL	ENST00000238789.5	37	c.2099_2102delATGC	CCDS46227.1																																																																																				0.368	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		14	12						14	12	---	---	---	---
RP11-649A16.1	0	broad.mit.edu	37	3	146995077	146995077	+	RNA	DEL	A	A	-			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr3:146995077delA	ENST00000473299.1	-	0	132																											TCTGGACTGtaaaaaaaaaaa	0.294																																						ENST00000473299.1																			0																																																			0							g.chr3:146995077delA																													3.37:g.146995077delA			Somatic								WXS	Illumina GAIIx	Phase_I					0	132	-									RNA	DEL	ENST00000473299.1	37																																																																																						0.294	RP11-649A16.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000355522.1			3	3						3	3	---	---	---	---
C11orf80	79703	broad.mit.edu	37	11	66568126	66568126	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	g.chr11:66568126delC	ENST00000360962.4	+	7	739	c.732delC	c.(730-732)ttcfs	p.F244fs	C11orf80_ENST00000525449.2_Frame_Shift_Del_p.F89fs|C11orf80_ENST00000527368.1_3'UTR|C11orf80_ENST00000532565.2_Frame_Shift_Del_p.F25fs|C11orf80_ENST00000346672.4_Frame_Shift_Del_p.F89fs|C11orf80_ENST00000540737.1_Frame_Shift_Del_p.F78fs|C11orf80_ENST00000527634.1_Frame_Shift_Del_p.F25fs	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	244										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						GATTTCATTTCAGTGTAAAGG	0.358																																						ENST00000360962.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						c.(730-732)ttcfs		chromosome 11 open reading frame 80							102.0	90.0	93.0					11																	66568126		1820	4073	5893	SO:0001589	frameshift_variant	79703							g.chr11:66568126delC			11q13.2	2012-05-30			ENSG00000173715	ENSG00000173715			26197	protein-coding gene	gene with protein product						18160775	Standard	NM_024650		Approved	FLJ22531	uc021qmd.1	Q8N6T0	OTTHUMG00000167164	ENST00000360962.4:c.732delC	11.37:g.66568126delC	ENSP00000354227:p.Phe244fs		Somatic				C11orf80_ENST00000527634.1_Frame_Shift_Del_p.F25fs|C11orf80_ENST00000346672.4_Frame_Shift_Del_p.F89fs|C11orf80_ENST00000540737.1_Frame_Shift_Del_p.F78fs|C11orf80_ENST00000525449.2_Frame_Shift_Del_p.F89fs|C11orf80_ENST00000527368.1_3'UTR|C11orf80_ENST00000532565.2_Frame_Shift_Del_p.F25fs	p.F244fs	NM_024650.3	NP_078926.3	WXS	Illumina GAIIx	Phase_I	Q8N6T0	CK080_HUMAN			7	739	+			89					Q9H677	Frame_Shift_Del	DEL	ENST00000360962.4	37	c.732delC	CCDS53664.1																																																																																				0.358	C11orf80-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_024650		2	4						2	4	---	---	---	---
