#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TRIOBP	11078	broad.mit.edu	37	22	38121968	38121968	+	Silent	SNP	A	A	G			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr22:38121968A>G	ENST00000406386.3	+	7	3660	c.3405A>G	c.(3403-3405)ttA>ttG	p.L1135L		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1135					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CTTCCCTCTTATTCCAGGACC	0.642																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(3403-3405)ttA>ttG		TRIO and F-actin binding protein							79.0	89.0	86.0					22																	38121968		1950	4136	6086	SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38121968A>G	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.3405A>G	22.37:g.38121968A>G						RP1-37E16.12_ENST00000455236.1_RNA	p.L1135L	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	3660	+	Melanoma(58;0.0574)		1135					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.3405A>G	CCDS43015.1																																																																																				0.642	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			40	49	0	0	0	1	0	40	49				
SERINC3	10955	broad.mit.edu	37	20	43142587	43142587	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr20:43142587A>C	ENST00000342374.4	-	2	291	c.134T>G	c.(133-135)aTt>aGt	p.I45S	SERINC3_ENST00000468234.1_5'UTR|SERINC3_ENST00000255175.1_Missense_Mutation_p.I45S|SERINC3_ENST00000541235.1_5'UTR	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	45					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			CAGGAGGAGAATGAAAGCATA	0.448																																						ENST00000342374.4																			0				endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18						c.(133-135)aTt>aGt		serine incorporator 3							202.0	175.0	184.0					20																	43142587		2203	4300	6503	SO:0001583	missense	10955					integral to membrane|plasma membrane	protein binding	g.chr20:43142587A>C	U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"""tumor differentially expressed 1"""	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.134T>G	20.37:g.43142587A>C	ENSP00000340243:p.Ile45Ser					SERINC3_ENST00000541235.1_5'UTR|SERINC3_ENST00000255175.1_Missense_Mutation_p.I45S|SERINC3_ENST00000468234.1_5'UTR	p.I45S	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)		2	291	-		Myeloproliferative disorder(115;0.0122)	45					B4DUE9|O43717|Q9BR33	Missense_Mutation	SNP	ENST00000342374.4	37	c.134T>G	CCDS13333.1	.	.	.	.	.	.	.	.	.	.	A	17.17	3.321000	0.60634	.	.	ENSG00000132824	ENST00000255175;ENST00000342374;ENST00000538937	T;T	0.16743	2.32;2.32	5.34	5.34	0.76211	.	0.105399	0.64402	D	0.000004	T	0.47248	0.1435	M	0.88450	2.955	0.80722	D	1	P;D	0.57899	0.736;0.981	P;D	0.64877	0.718;0.93	T	0.55611	-0.8114	10	0.56958	D	0.05	.	15.612	0.76733	1.0:0.0:0.0:0.0	.	45;45	Q53GK8;Q13530	.;SERC3_HUMAN	S	45;45;12	ENSP00000255175:I45S;ENSP00000340243:I45S	ENSP00000255175:I45S	I	-	2	0	SERINC3	42576001	1.000000	0.71417	0.700000	0.30305	0.260000	0.26232	7.228000	0.78079	2.131000	0.65755	0.460000	0.39030	ATT		0.448	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080544.3	NM_006811		30	49	0	0	0	1	0	30	49				
EGFR	1956	broad.mit.edu	37	7	55268923	55268923	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr7:55268923T>G	ENST00000275493.2	+	25	3166	c.2989T>G	c.(2989-2991)Ttc>Gtc	p.F997V	EGFR_ENST00000455089.1_Missense_Mutation_p.F952V|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.F944V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	997					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGACTCCAACTTCTACCGTGC	0.522		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(2989-2991)Ttc>Gtc		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						153.0	141.0	145.0					7																	55268923		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55268923T>G		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2989T>G	7.37:g.55268923T>G	ENSP00000275493:p.Phe997Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000454757.2_Missense_Mutation_p.F944V|EGFR_ENST00000455089.1_Missense_Mutation_p.F952V|EGFR_ENST00000442591.1_Intron	p.F997V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		25	3166	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		997					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2989T>G	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.345726	0.82022	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.61274	0.12;0.12;0.12	5.65	5.65	0.86999	Protein kinase-like domain (1);	0.146590	0.64402	D	0.000007	T	0.68384	0.2995	M	0.86740	2.835	0.47778	D	0.999518	D;P	0.56035	0.974;0.613	P;B	0.49502	0.613;0.33	T	0.75107	-0.3434	10	0.72032	D	0.01	.	10.2829	0.43550	0.1473:0.0:0.0:0.8527	.	952;997	Q504U8;P00533	.;EGFR_HUMAN	V	952;867;997;944	ENSP00000415559:F952V;ENSP00000275493:F997V;ENSP00000395243:F944V	ENSP00000275493:F997V	F	+	1	0	EGFR	55236417	1.000000	0.71417	0.886000	0.34754	0.985000	0.73830	4.871000	0.63042	2.281000	0.76405	0.528000	0.53228	TTC		0.522	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		38	71	0	0	0	1	0	38	71				
TGFB1	7040	broad.mit.edu	37	19	41838078	41838078	+	Silent	SNP	G	G	A			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr19:41838078G>A	ENST00000221930.5	-	6	1835	c.969C>T	c.(967-969)ctC>ctT	p.L323L		NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN	transforming growth factor, beta 1	323					active induction of host immune response by virus (GO:0046732)|adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains (GO:0002460)|aging (GO:0007568)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|branch elongation involved in mammary gland duct branching (GO:0060751)|cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cell-cell junction organization (GO:0045216)|cellular calcium ion homeostasis (GO:0006874)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation (GO:0002062)|common-partner SMAD protein phosphorylation (GO:0007182)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|defense response to fungus, incompatible interaction (GO:0009817)|digestive tract development (GO:0048565)|embryo development (GO:0009790)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|evasion or tolerance of host defenses by virus (GO:0019049)|extracellular matrix assembly (GO:0085029)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|face morphogenesis (GO:0060325)|female pregnancy (GO:0007565)|frontal suture morphogenesis (GO:0060364)|germ cell migration (GO:0008354)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|lens fiber cell differentiation (GO:0070306)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymph node development (GO:0048535)|macrophage derived foam cell differentiation (GO:0010742)|mammary gland branching involved in thelarche (GO:0060744)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|modulation by virus of host morphology or physiology (GO:0019048)|mononuclear cell proliferation (GO:0032943)|myelination (GO:0042552)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA replication (GO:0008156)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of extracellular matrix disassembly (GO:0010716)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of ossification (GO:0030279)|negative regulation of phagocytosis (GO:0050765)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|ossification involved in bone remodeling (GO:0043932)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|phosphate-containing compound metabolic process (GO:0006796)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of isotype switching to IgA isotypes (GO:0048298)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NAD+ ADP-ribosyltransferase activity (GO:1901666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of odontogenesis (GO:0042482)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein secretion (GO:0050714)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein export from nucleus (GO:0006611)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|receptor catabolic process (GO:0032801)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of binding (GO:0051098)|regulation of blood vessel remodeling (GO:0060312)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of cartilage development (GO:0061035)|regulation of cell migration (GO:0030334)|regulation of DNA binding (GO:0051101)|regulation of miRNA metabolic process (GO:2000628)|regulation of protein import into nucleus (GO:0042306)|regulation of sodium ion transport (GO:0002028)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulatory T cell differentiation (GO:0045066)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to laminar fluid shear stress (GO:0034616)|response to progesterone (GO:0032570)|response to radiation (GO:0009314)|response to vitamin D (GO:0033280)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|T cell homeostasis (GO:0043029)|tolerance induction to self antigen (GO:0002513)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|viral life cycle (GO:0019058)	axon (GO:0030424)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	antigen binding (GO:0003823)|cytokine activity (GO:0005125)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8					Hyaluronidase(DB00070)	GGCAGGGCCCGAGGCAGAAGT	0.622																																						ENST00000221930.5																			0				endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8						c.(967-969)ctC>ctT		transforming growth factor, beta 1	Hyaluronidase(DB00070)						80.0	72.0	75.0					19																	41838078		2203	4300	6503	SO:0001819	synonymous_variant	7040				active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding	g.chr19:41838078G>A	X02812	CCDS33031.1	19q13.1	2014-01-30	2007-02-16			ENSG00000105329		"""Endogenous ligands"""	11766	protein-coding gene	gene with protein product	"""Camurati-Engelmann disease"", ""prepro-transforming growth factor beta-1"""	190180		TGFB, DPD1		10631145, 10843814	Standard	NM_000660		Approved	CED, TGFbeta	uc002oqh.2	P01137		ENST00000221930.5:c.969C>T	19.37:g.41838078G>A							p.L323L	NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN			6	1835	-			323					A8K792|Q9UCG4	Silent	SNP	ENST00000221930.5	37	c.969C>T	CCDS33031.1																																																																																				0.622	TGFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463500.2			5	41	0	0	0	1	0	5	41				
ADAM29	11086	broad.mit.edu	37	4	175897169	175897169	+	Missense_Mutation	SNP	G	G	A	rs555477715		TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr4:175897169G>A	ENST00000359240.3	+	5	1163	c.493G>A	c.(493-495)Gga>Aga	p.G165R	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Missense_Mutation_p.G165R|ADAM29_ENST00000514159.1_Missense_Mutation_p.G165R|ADAM29_ENST00000445694.1_Missense_Mutation_p.G165R	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	165					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G165R(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CATGAGATCCGGATTTATGCA	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		19665	0.0		0.0	False		,,,				2504	0.001				Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			1	Substitution - Missense(1)	p.G165R(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(493-495)Gga>Aga		ADAM metallopeptidase domain 29							87.0	89.0	88.0					4																	175897169		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897169G>A	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.493G>A	4.37:g.175897169G>A	ENSP00000352177:p.Gly165Arg					ADAM29_ENST00000404450.4_Missense_Mutation_p.G165R|ADAM29_ENST00000445694.1_Missense_Mutation_p.G165R|ADAM29_ENST00000514159.1_Missense_Mutation_p.G165R	p.G165R	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	1163	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	165					Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.493G>A	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.687703	0.48097	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.02216	4.39;4.39;4.39;4.39	3.84	2.6	0.31112	.	0.469554	0.15310	U	0.269124	T	0.04272	0.0118	L	0.58510	1.815	0.09310	N	1	D	0.58970	0.984	P	0.49561	0.615	T	0.38023	-0.9680	9	.	.	.	.	5.8301	0.18577	0.205:0.0:0.795:0.0	.	165	Q9UKF5	ADA29_HUMAN	R	165	ENSP00000352177:G165R;ENSP00000414544:G165R;ENSP00000384229:G165R;ENSP00000423517:G165R	.	G	+	1	0	ADAM29	176133744	0.028000	0.19301	0.001000	0.08648	0.003000	0.03518	2.393000	0.44442	0.825000	0.34637	0.643000	0.83706	GGA		0.378	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				30	54	0	0	0	1	0	30	54				
ANKRD35	148741	broad.mit.edu	37	1	145561191	145561191	+	Silent	SNP	G	G	A			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr1:145561191G>A	ENST00000355594.4	+	10	966	c.879G>A	c.(877-879)ccG>ccA	p.P293P		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	293										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATGAAGACCCGTGCTCGGAGG	0.552																																					Melanoma(9;127 754 22988 51047)	ENST00000355594.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47						c.(877-879)ccG>ccA		ankyrin repeat domain 35							61.0	65.0	64.0					1																	145561191		2203	4300	6503	SO:0001819	synonymous_variant	148741							g.chr1:145561191G>A	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.879G>A	1.37:g.145561191G>A							p.P293P	NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN			10	966	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		293					A6NEU0|B4DL62|Q3MJ10|Q96LS3	Silent	SNP	ENST00000355594.4	37	c.879G>A	CCDS919.1																																																																																				0.552	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		14	14	0	0	0	1	0	14	14				
POTEG	404785	broad.mit.edu	37	14	19553754	19553754	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr14:19553754G>A	ENST00000409832.3	+	1	390	c.338G>A	c.(337-339)gGc>gAc	p.G113D		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	113										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGGGGGAGCGGCAAGAGCAAA	0.597																																						ENST00000409832.3																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(337-339)gGc>gAc		POTE ankyrin domain family, member G							348.0	379.0	369.0					14																	19553754		2201	4298	6499	SO:0001583	missense	404785							g.chr14:19553754G>A		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.338G>A	14.37:g.19553754G>A	ENSP00000386971:p.Gly113Asp						p.G113D	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN			1	390	+			113					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.338G>A	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	6.591	0.477486	0.12521	.	.	ENSG00000222036	ENST00000409832	T	0.28895	1.59	0.604	0.604	0.17547	.	.	.	.	.	T	0.30727	0.0774	L	0.58101	1.795	0.09310	N	1	P	0.43938	0.822	B	0.43575	0.424	T	0.16867	-1.0388	8	0.59425	D	0.04	.	.	.	.	.	113	Q6S5H5	POTEG_HUMAN	D	113	ENSP00000386971:G113D	ENSP00000386971:G113D	G	+	2	0	POTEG	18623754	0.001000	0.12720	0.002000	0.10522	0.007000	0.05969	0.607000	0.24209	0.571000	0.29365	0.416000	0.27883	GGC		0.597	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		7	845	0	0	0	1	0	7	845				
MEDAG	84935	broad.mit.edu	37	13	31498491	31498491	+	Silent	SNP	A	A	T			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr13:31498491A>T	ENST00000380482.4	+	5	1156	c.831A>T	c.(829-831)tcA>tcT	p.S277S	TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000590721.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000588425.1_RNA|TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000592950.1_RNA	NM_032849.3	NP_116238	Q5VYS4	MEDAG_HUMAN	mesenteric estrogen-dependent adipogenesis	277					positive regulation of fat cell differentiation (GO:0045600)	cytoplasm (GO:0005737)		p.S277S(1)									CACCCAGATCATCTCTGACAG	0.363																																						ENST00000380482.4																			1	Substitution - coding silent(1)	p.S277S(1)	lung(1)								c.(829-831)tcA>tcT		mesenteric estrogen-dependent adipogenesis							135.0	131.0	133.0					13																	31498491		2203	4300	6503	SO:0001819	synonymous_variant	84935							g.chr13:31498491A>T	AB055407	CCDS9338.1	13q12.3	2013-10-11	2012-09-26	2012-09-26	ENSG00000102802	ENSG00000102802			25926	protein-coding gene	gene with protein product	"""mesenteric estrogen-dependent adipose 4"", ""activated in W/Wv mouse stomach 3 homolog"""		"""chromosome 13 open reading frame 33"""	C13orf33		22510272	Standard	NM_032849		Approved	FLJ14834, AWMS3, MEDA-4	uc001uth.4	Q5VYS4	OTTHUMG00000016679	ENST00000380482.4:c.831A>T	13.37:g.31498491A>T						TEX26-AS1_ENST00000588425.1_RNA|TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000590721.1_RNA|TEX26-AS1_ENST00000586973.1_RNA	p.S277S	NM_032849.3	NP_116238.2					5	1156	+								Q8IXF1|Q96K26|Q96NC8	Silent	SNP	ENST00000380482.4	37	c.831A>T	CCDS9338.1																																																																																				0.363	MEDAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044375.1	NM_032849		31	52	0	0	0	1	0	31	52				
GREM2	64388	broad.mit.edu	37	1	240656394	240656394	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr1:240656394C>T	ENST00000318160.4	-	2	648	c.382G>A	c.(382-384)Gtc>Atc	p.V128I		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	128	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				BMP signaling pathway (GO:0030509)|cytokine-mediated signaling pathway (GO:0019221)|determination of dorsal identity (GO:0048263)|embryonic body morphogenesis (GO:0010172)|regulation of cytokine activity (GO:0060300)|sequestering of BMP from receptor via BMP binding (GO:0038098)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	heparin binding (GO:0008201)			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			ACGGAGGTGACGCGCTGGGGC	0.622																																						ENST00000318160.4																			0				endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10						c.(382-384)Gtc>Atc		gremlin 2, DAN family BMP antagonist							61.0	64.0	63.0					1																	240656394		2203	4300	6503	SO:0001583	missense	64388				BMP signaling pathway	extracellular space	cytokine activity	g.chr1:240656394C>T	AK024848	CCDS31070.1	1q43	2013-02-26	2013-02-26		ENSG00000180875	ENSG00000180875			17655	protein-coding gene	gene with protein product	"""protein related to DAN and cerberus"""	608832	"""gremlin 2, cysteine knot superfamily, homolog (Xenopus laevis)"", ""gremlin 2"""			15039429	Standard	XM_005273226		Approved	Prdc, FLJ21195, CKTSF1B2, DAND3	uc001hys.3	Q9H772	OTTHUMG00000039909	ENST00000318160.4:c.382G>A	1.37:g.240656394C>T	ENSP00000318650:p.Val128Ile						p.V128I	NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0123)		2	648	-		all_cancers(173;0.0196)	128			CTCK.		Q86UD9	Missense_Mutation	SNP	ENST00000318160.4	37	c.382G>A	CCDS31070.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.022961	0.35701	.	.	ENSG00000180875	ENST00000318160	T	0.30448	1.53	4.97	2.91	0.33838	DAN (1);Cystine knot, C-terminal (2);	0.328711	0.28482	N	0.015189	T	0.14056	0.0340	N	0.08118	0	0.34308	D	0.685162	B	0.19200	0.034	B	0.16289	0.015	T	0.17592	-1.0364	10	0.19590	T	0.45	-7.9142	9.7717	0.40593	0.1478:0.5656:0.2865:0.0	.	128	Q9H772	GREM2_HUMAN	I	128	ENSP00000318650:V128I	ENSP00000318650:V128I	V	-	1	0	GREM2	238723017	0.361000	0.24972	0.998000	0.56505	0.998000	0.95712	0.326000	0.19646	1.037000	0.40024	0.557000	0.71058	GTC		0.622	GREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096286.1	NM_022469		41	40	0	0	0	1	0	41	40				
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs10902490|rs528214697	byFrequency	TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389561.2_Silent_p.Q2727Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567																																						ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8287-8289)caA>caG		E1A binding protein p400							25.0	29.0	28.0					12																	132547093		2173	4217	6390	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8289A>G	12.37:g.132547093A>G						EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000330386.6_Silent_p.Q2646Q	p.Q2763Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8289A>G																																																																																					0.567	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		8	46	0	0	0	1	0	8	46				
NUP85	79902	broad.mit.edu	37	17	73229024	73229024	+	Missense_Mutation	SNP	G	G	A	rs545929051	byFrequency	TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr17:73229024G>A	ENST00000245544.4	+	15	1546	c.1475G>A	c.(1474-1476)cGt>cAt	p.R492H	NUP85_ENST00000447371.2_Missense_Mutation_p.R324H|NUP85_ENST00000579298.1_Missense_Mutation_p.R447H|NUP85_ENST00000540768.1_Missense_Mutation_p.R95H|NUP85_ENST00000579324.1_Missense_Mutation_p.R380H|NUP85_ENST00000541827.1_Missense_Mutation_p.R446H	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	492					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			TGGAGCATCCGTGCTAAGGAT	0.567													G|||	2	0.000399361	0.0	0.0	5008	,	,		20333	0.0		0.0	False		,,,				2504	0.002					ENST00000447371.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16						c.(970-972)cGt>cAt		nucleoporin 85kDa							124.0	120.0	122.0					17																	73229024		2203	4300	6503	SO:0001583	missense	79902				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding	g.chr17:73229024G>A	AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.1475G>A	17.37:g.73229024G>A	ENSP00000245544:p.Arg492His					NUP85_ENST00000540768.1_Missense_Mutation_p.R95H|NUP85_ENST00000541827.1_Missense_Mutation_p.R446H|NUP85_ENST00000245544.4_Missense_Mutation_p.R492H|NUP85_ENST00000579298.1_Missense_Mutation_p.R447H|NUP85_ENST00000579324.1_Missense_Mutation_p.R380H	p.R324H			Q9BW27	NUP85_HUMAN	all cancers(21;3.45e-06)		14	1395	+	all_lung(278;0.14)|Lung NSC(278;0.168)		492					B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Missense_Mutation	SNP	ENST00000245544.4	37	c.971G>A	CCDS32730.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.389179	0.61956	.	.	ENSG00000125450	ENST00000245544;ENST00000541827;ENST00000447371;ENST00000540768	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.83862	0.5346	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	D	0.85678	0.1299	9	0.62326	D	0.03	-11.6059	19.0648	0.93106	0.0:0.0:1.0:0.0	.	446;492	B4DMQ3;Q9BW27	.;NUP85_HUMAN	H	492;446;324;95	.	ENSP00000245544:R492H	R	+	2	0	NUP85	70740619	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.203000	0.95033	2.509000	0.84616	0.561000	0.74099	CGT		0.567	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1	NM_024844		8	74	0	0	0	1	0	8	74				
POTEE	445582	broad.mit.edu	37	2	131976367	131976367	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr2:131976367C>T	ENST00000356920.5	+	1	486	c.392C>T	c.(391-393)cCc>cTc	p.P131L	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.P131L	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	131					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											TTCATGGAGCCCAGGTACCAC	0.602																																						ENST00000356920.5																			0											c.(391-393)cCc>cTc		POTE ankyrin domain family, member E							87.0	90.0	89.0					2																	131976367		2203	4300	6503	SO:0001583	missense	445582						ATP binding	g.chr2:131976367C>T	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.392C>T	2.37:g.131976367C>T	ENSP00000439189:p.Pro131Leu					PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.P131L|PLEKHB2_ENST00000404460.1_Intron	p.P131L	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN			1	486	+			131					Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.392C>T	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	13.50	2.256466	0.39896	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.50001	0.76;0.76	1.05	1.05	0.20165	.	.	.	.	.	T	0.24586	0.0596	N	0.12746	0.255	0.09310	N	1	P	0.51933	0.949	B	0.39094	0.29	T	0.12682	-1.0538	9	0.87932	D	0	.	5.4993	0.16819	0.0:1.0:0.0:0.0	.	131	Q6S8J3	POTEE_HUMAN	L	131	ENSP00000439189:P131L;ENSP00000443049:P131L	ENSP00000439189:P131L	P	+	2	0	AC131180.1	131692837	0.000000	0.05858	0.002000	0.10522	0.083000	0.17756	-0.542000	0.06091	0.878000	0.35920	0.162000	0.16502	CCC		0.602	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		5	96	0	0	0	1	0	5	96				
DST	667	broad.mit.edu	37	6	56515973	56515973	+	Silent	SNP	G	G	A	rs377724610		TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr6:56515973G>A	ENST00000361203.3	-	7	658	c.651C>T	c.(649-651)taC>taT	p.Y217Y	DST_ENST00000370769.4_Silent_p.Y217Y|DST_ENST00000421834.2_Silent_p.Y217Y|DST_ENST00000370788.2_Silent_p.Y217Y|DST_ENST00000370754.5_Silent_p.Y395Y|DST_ENST00000312431.6_Silent_p.Y217Y			Q03001	DYST_HUMAN	dystonin	217	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTTCTGCTACGTAAAAAGCAT	0.358																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(1183-1185)taC>taT		dystonin		G		1,3663		0,1,1831	51.0	49.0	49.0			0.4	1.0	6		49	0,8162		0,0,4081	no	intergenic				0,1,5912	AA,AG,GG		0.0,0.0273,0.0085			56515973	1,11825	1832	4081	5913	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56515973G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.651C>T	6.37:g.56515973G>A						DST_ENST00000312431.6_Silent_p.Y217Y|DST_ENST00000421834.2_Silent_p.Y217Y|DST_ENST00000370769.4_Silent_p.Y217Y|DST_ENST00000370788.2_Silent_p.Y217Y|DST_ENST00000361203.3_Silent_p.Y217Y	p.Y395Y			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		10	1184	-	Lung NSC(77;0.103)		217					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.1185C>T																																																																																					0.358	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		9	17	0	0	0	1	0	9	17				
RP11-423O2.5	0	broad.mit.edu	37	1	142803480	142803480	+	lincRNA	SNP	T	T	C			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr1:142803480T>C	ENST00000423385.1	-	0	1485																											GATTTTAATATTCTGTACATT	0.343																																						ENST00000423385.1																			0																																																			0							g.chr1:142803480T>C																													1.37:g.142803480T>C														0	1485	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.343	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			4	45	0	0	0	1	0	4	45				
PDZD2	23037	broad.mit.edu	37	5	32069683	32069683	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr5:32069683G>T	ENST00000438447.1	+	15	2848	c.2460G>T	c.(2458-2460)gaG>gaT	p.E820D	PDZD2_ENST00000282493.3_Missense_Mutation_p.E820D			O15018	PDZD2_HUMAN	PDZ domain containing 2	820					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGGTTTCCGAGCAGGAAATGG	0.413																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(2458-2460)gaG>gaT		PDZ domain containing 2							93.0	85.0	88.0					5																	32069683		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32069683G>T	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.2460G>T	5.37:g.32069683G>T	ENSP00000402033:p.Glu820Asp					PDZD2_ENST00000282493.3_Missense_Mutation_p.E820D	p.E820D			O15018	PDZD2_HUMAN			15	2848	+			820					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.2460G>T	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.761780	0.69763	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.09723	2.95;2.95	5.86	2.55	0.30701	.	0.000000	0.49916	D	0.000125	T	0.17577	0.0422	L	0.34521	1.04	0.40178	D	0.97725	D;D	0.67145	0.996;0.982	D;P	0.64237	0.923;0.822	T	0.01386	-1.1368	10	0.62326	D	0.03	.	9.6066	0.39637	0.2893:0.0:0.7107:0.0	.	646;820	B4E3P2;O15018	.;PDZD2_HUMAN	D	820;624;820	ENSP00000402033:E820D;ENSP00000282493:E820D	ENSP00000282493:E820D	E	+	3	2	PDZD2	32105440	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	0.881000	0.28173	0.752000	0.32923	-0.150000	0.13652	GAG		0.413	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			5	35	1	0	0.184627	1	0.184627	5	35				
MRGPRX1	259249	broad.mit.edu	37	11	18955897	18955897	+	Silent	SNP	C	C	G			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr11:18955897C>G	ENST00000302797.3	-	1	659	c.435G>C	c.(433-435)ctG>ctC	p.L145L	MRGPRX1_ENST00000526914.1_5'UTR|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	145					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGGCCCAGAGCAGGACACACA	0.597																																						ENST00000302797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(433-435)ctG>ctC		MAS-related GPR, member X1							97.0	81.0	86.0					11																	18955897		2194	4286	6480	SO:0001819	synonymous_variant	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18955897C>G		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.435G>C	11.37:g.18955897C>G						MRGPRX1_ENST00000526914.1_5'UTR	p.L145L	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN			1	659	-			145					Q4V9L2|Q8TDD8|Q8TDD9	Silent	SNP	ENST00000302797.3	37	c.435G>C	CCDS7846.1																																																																																				0.597	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		28	25	0	0	0	1	0	28	25				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		6	47	0	0	0	1	0	6	47				
MTCH2	23788	broad.mit.edu	37	11	47660327	47660327	+	Missense_Mutation	SNP	C	C	T	rs140836301	byFrequency	TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr11:47660327C>T	ENST00000302503.3	-	3	360	c.203G>A	c.(202-204)cGc>cAc	p.R68H	MTCH2_ENST00000542981.1_5'UTR	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	68			R -> S (in dbSNP:rs34072236).		protein localization to mitochondrion (GO:0070585)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						GAACAACCCGCGCCTCCCATC	0.423													C|||	14	0.00279553	0.0091	0.0	5008	,	,		16403	0.0		0.0	False		,,,				2504	0.002					ENST00000302503.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(202-204)cGc>cAc		mitochondrial carrier 2		C	HIS/ARG	28,4374	34.3+/-65.2	0,28,2173	68.0	62.0	64.0		203	4.1	1.0	11	dbSNP_134	64	0,8596		0,0,4298	yes	missense	MTCH2	NM_014342.3	29	0,28,6471	TT,TC,CC		0.0,0.6361,0.2154	benign	68/304	47660327	28,12970	2201	4298	6499	SO:0001583	missense	23788				transport	integral to membrane|mitochondrial inner membrane		g.chr11:47660327C>T	AF085361	CCDS7943.1	11p11.2	2013-05-22	2011-05-19		ENSG00000109919	ENSG00000109919		"""Solute carriers"""	17587	protein-coding gene	gene with protein product	"""solute carrier family 25, member 50"""	613221	"""mitochondrial carrier homolog 2 (C. elegans)"""				Standard	NM_014342		Approved	SLC25A50	uc010rho.2	Q9Y6C9	OTTHUMG00000166926	ENST00000302503.3:c.203G>A	11.37:g.47660327C>T	ENSP00000303222:p.Arg68His					MTCH2_ENST00000542981.1_5'UTR	p.R68H	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN			3	360	-			68		R -> S (in dbSNP:rs34072236).			B2R7L8	Missense_Mutation	SNP	ENST00000302503.3	37	c.203G>A	CCDS7943.1	11	0.005036630036630037	11	0.022357723577235773	0	0.0	0	0.0	0	0.0	C	10.21	1.288109	0.23478	0.006361	0.0	ENSG00000109919	ENST00000302503;ENST00000530428;ENST00000530558	T;T	0.80824	-1.42;-1.42	4.99	4.06	0.47325	Mitochondrial carrier domain (2);	0.633514	0.17558	N	0.169901	T	0.53029	0.1771	L	0.34521	1.04	0.80722	D	1	B	0.14012	0.009	B	0.08055	0.003	T	0.58918	-0.7551	10	0.31617	T	0.26	.	8.4175	0.32681	0.0:0.7534:0.1593:0.0873	.	68	Q9Y6C9	MTCH2_HUMAN	H	68;68;47	ENSP00000303222:R68H;ENSP00000432043:R68H	ENSP00000303222:R68H	R	-	2	0	MTCH2	47616903	0.972000	0.33761	1.000000	0.80357	0.938000	0.57974	2.307000	0.43682	2.464000	0.83262	0.561000	0.74099	CGC		0.423	MTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391921.2	NM_014342		23	22	0	0	0	1	0	23	22				
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	lincRNA	SNP	C	C	G	rs199933143		TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713773C>G																													1.37:g.142713773C>G														0	832	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			6	65	0	0	0	1	0	6	65				
POTEF	728378	broad.mit.edu	37	2	130877697	130877697	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr2:130877697G>A	ENST00000409914.2	-	3	791	c.392C>T	c.(391-393)cCc>cTc	p.P131L	POTEF_ENST00000361163.4_Missense_Mutation_p.P131L|POTEF_ENST00000360967.5_Missense_Mutation_p.P131L|POTEF_ENST00000357462.5_Missense_Mutation_p.P131L	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	131					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GTGGTACCTGGGCTCCATGAA	0.592																																						ENST00000357462.5																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						c.(391-393)cCc>cTc		POTE ankyrin domain family, member F							77.0	88.0	84.0					2																	130877697		2201	4299	6500	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130877697G>A	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.392C>T	2.37:g.130877697G>A	ENSP00000386786:p.Pro131Leu					POTEF_ENST00000409914.2_Missense_Mutation_p.P131L|POTEF_ENST00000361163.4_Missense_Mutation_p.P131L|POTEF_ENST00000360967.5_Missense_Mutation_p.P131L	p.P131L			A5A3E0	POTEF_HUMAN			1	485	-			131					A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.392C>T	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	10.99	1.506635	0.26949	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	1.33	0.392	0.16288	.	.	.	.	.	T	0.30634	0.0771	L	0.37630	1.12	0.09310	N	1	P	0.51933	0.949	B	0.39094	0.29	T	0.22765	-1.0207	9	0.87932	D	0	.	3.49	0.07634	0.2776:0.0:0.7224:0.0	.	131	A5A3E0	POTEF_HUMAN	L	131	ENSP00000350052:P131L;ENSP00000386786:P131L;ENSP00000354232:P131L;ENSP00000355012:P131L	ENSP00000350052:P131L	P	-	2	0	POTEF	130594167	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.127000	0.10547	0.123000	0.18342	0.162000	0.16502	CCC		0.592	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		38	60	0	0	0	1	0	38	60				
PCDH11Y	83259	broad.mit.edu	37	Y	4967195	4967195	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chrY:4967195G>A	ENST00000333703.4	+	5	2056	c.1543G>A	c.(1543-1545)Gac>Aac	p.D515N	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.D526N|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.D526N	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AACGGATGCAGACAGTGGGCC	0.473																																						ENST00000333703.4																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1543-1545)Gac>Aac		protocadherin 11 Y-linked							52.0	47.0	48.0					Y																	4967195		599	1937	2536	SO:0001583	missense	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:4967195G>A	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"""Cadherins / Protocadherins : Non-clustered"""	15813	protein-coding gene	gene with protein product		400022	"""protocadherin 22"""	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.1543G>A	Y.37:g.4967195G>A	ENSP00000330552:p.Asp515Asn					PCDH11Y_ENST00000362095.5_Missense_Mutation_p.D526N|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.D526N	p.D515N	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN			5	2056	+			526			Cadherin 5.		Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP	ENST00000333703.4	37	c.1543G>A	CCDS14776.1																																																																																				0.473	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	NM_032973		15	40	0	0	0	1	0	15	40				
SORCS1	114815	broad.mit.edu	37	10	108469017	108469017	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr10:108469017G>T	ENST00000263054.6	-	7	1114	c.1107C>A	c.(1105-1107)gaC>gaA	p.D369E	SORCS1_ENST00000344440.6_Missense_Mutation_p.D369E	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	369					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CAATCAAAGAGTCTGGGTCAA	0.388																																						ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(1105-1107)gaC>gaA		sortilin-related VPS10 domain containing receptor 1							120.0	111.0	114.0					10																	108469017		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108469017G>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1107C>A	10.37:g.108469017G>T	ENSP00000263054:p.Asp369Glu					SORCS1_ENST00000344440.6_Missense_Mutation_p.D369E	p.D369E	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	7	1114	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	369					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.1107C>A	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724427	0.48728	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.30981	1.51;1.51	5.71	-1.29	0.09288	VPS10 (1);	0.111830	0.64402	D	0.000007	T	0.20536	0.0494	N	0.24115	0.695	0.32051	N	0.596951	B;B;B;B;B	0.31705	0.113;0.114;0.336;0.227;0.336	B;B;B;B;B	0.38225	0.041;0.122;0.205;0.138;0.268	T	0.27872	-1.0061	9	.	.	.	-26.8843	12.077	0.53649	0.3982:0.0:0.6018:0.0	.	369;369;369;369;369	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	E	369	ENSP00000263054:D369E;ENSP00000345964:D369E	.	D	-	3	2	SORCS1	108459007	1.000000	0.71417	0.984000	0.44739	0.989000	0.77384	1.101000	0.31037	-0.123000	0.11745	-0.136000	0.14681	GAC		0.388	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		30	49	1	0	3.99451e-17	1	4.44672e-17	30	49				
COL19A1	1310	broad.mit.edu	37	6	70854121	70854121	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr6:70854121G>A	ENST00000322773.4	+	24	1748	c.1646G>A	c.(1645-1647)gGt>gAt	p.G549D	COL19A1_ENST00000393344.1_Missense_Mutation_p.G171D	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	549	Triple-helical region 3 (COL3).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGAGAACATGGTATCCCAGGA	0.358																																						ENST00000322773.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(1645-1647)gGt>gAt		collagen, type XIX, alpha 1							108.0	108.0	108.0					6																	70854121		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70854121G>A		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1646G>A	6.37:g.70854121G>A	ENSP00000316030:p.Gly549Asp					COL19A1_ENST00000393344.1_Missense_Mutation_p.G171D	p.G549D	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			24	1748	+			549			Triple-helical region 3 (COL3).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.1646G>A	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.028721	0.54790	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.99619	-6.28;-6.28	5.1	5.1	0.69264	.	0.000000	0.64402	D	0.000001	D	0.99768	0.9905	H	0.94698	3.57	0.50813	D	0.99989	D	0.89917	1.0	D	0.87578	0.998	D	0.97244	0.9893	10	0.87932	D	0	.	17.0673	0.86562	0.0:0.0:1.0:0.0	.	549	Q14993	COJA1_HUMAN	D	549;171	ENSP00000316030:G549D;ENSP00000377013:G171D	ENSP00000316030:G549D	G	+	2	0	COL19A1	70910842	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.026000	0.76455	2.529000	0.85273	0.650000	0.86243	GGT		0.358	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			5	160	0	0	0	1	0	5	160				
MXRA5	25878	broad.mit.edu	37	X	3238698	3238698	+	Silent	SNP	C	C	T			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chrX:3238698C>T	ENST00000217939.6	-	5	5182	c.5028G>A	c.(5026-5028)ttG>ttA	p.L1676L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1676						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGGACATGTGCAATGGGAGAG	0.418																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(5026-5028)ttG>ttA		matrix-remodelling associated 5							174.0	165.0	168.0					X																	3238698		2203	4300	6503	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3238698C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.5028G>A	X.37:g.3238698C>T							p.L1676L	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	5182	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1676					Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.5028G>A	CCDS14124.1																																																																																				0.418	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		14	141	0	0	0	1	0	14	141				
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	lincRNA	SNP	A	A	G	rs201023195		TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713774A>G																													1.37:g.142713774A>G														0	831	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			6	65	0	0	0	1	0	6	65				
LOC101927209	101927209	broad.mit.edu	37	1	142713944	142713944	+	lincRNA	SNP	C	C	T	rs199960649		TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr1:142713944C>T	ENST00000610091.1	-	0	1714																											TGATTACCTCCGAAGTTAAAG	0.308																																						ENST00000369381.2																			0																																																			0							g.chr1:142713944C>T																													1.37:g.142713944C>T														0	661	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.308	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			6	29	0	0	0	1	0	6	29				
VWA8	23078	broad.mit.edu	37	13	42267091	42267091	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr13:42267091C>A	ENST00000379310.3	-	30	3650	c.3582G>T	c.(3580-3582)ttG>ttT	p.L1194F	VWA8_ENST00000478987.1_5'UTR	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1194						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										TAGTATCTAACAACAGGATAA	0.383																																						ENST00000379310.3																			0											c.(3580-3582)ttG>ttT		von Willebrand factor A domain containing 8							63.0	58.0	60.0					13																	42267091		1819	4069	5888	SO:0001583	missense	23078							g.chr13:42267091C>A	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.3582G>T	13.37:g.42267091C>A	ENSP00000368612:p.Leu1194Phe					VWA8_ENST00000478987.1_5'UTR	p.L1194F	NM_015058.1	NP_055873.1					30	3650	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.3582G>T	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.966616	0.34659	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	T	0.11277	2.79	5.76	3.1	0.35709	.	0.093185	0.45361	D	0.000371	T	0.21186	0.0510	M	0.61703	1.905	0.80722	D	1	D	0.57899	0.981	P	0.55161	0.77	T	0.00359	-1.1791	10	0.59425	D	0.04	.	10.5111	0.44862	0.0:0.787:0.0:0.213	.	1194	A3KMH1	K0564_HUMAN	F	1098;1194	ENSP00000368612:L1194F	ENSP00000251030:L1098F	L	-	3	2	KIAA0564	41165091	0.921000	0.31238	0.499000	0.27577	0.536000	0.34869	0.531000	0.23052	0.356000	0.24157	0.655000	0.94253	TTG		0.383	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		10	23	1	0	2.74318e-10	1	2.89014e-10	10	23				
ESPNP	284729	broad.mit.edu	37	1	17026476	17026476	+	RNA	SNP	C	C	T			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr1:17026476C>T	ENST00000492551.1	-	0	1209					NR_026567.1				espin pseudogene																		CGGCTGGAGTCCTGCCTCCGT	0.736																																						ENST00000492551.1																			0																																																			0							g.chr1:17026476C>T	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17026476C>T								NR_026567.1						0	1209	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.736	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			3	15	0	0	0	1	0	3	15				
LTF	4057	broad.mit.edu	37	3	46492135	46492135	+	Missense_Mutation	SNP	G	G	T	rs141357150		TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr3:46492135G>T	ENST00000231751.4	-	7	1027	c.732C>A	c.(730-732)gaC>gaA	p.D244E	LTF_ENST00000417439.1_Missense_Mutation_p.D244E|LTF_ENST00000426532.2_Missense_Mutation_p.D200E	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	244	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		ACTCATACTCGTCCCTTTCAG	0.562																																						ENST00000231751.4																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40						c.(730-732)gaC>gaA		lactotransferrin	Pefloxacin(DB00487)						135.0	121.0	126.0					3																	46492135		2203	4296	6499	SO:0001583	missense	4057				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	g.chr3:46492135G>T		CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.732C>A	3.37:g.46492135G>T	ENSP00000231751:p.Asp244Glu					LTF_ENST00000426532.2_Missense_Mutation_p.D200E|LTF_ENST00000417439.1_Missense_Mutation_p.D244E	p.D244E	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN		all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	7	1027	-			244			Transferrin-like 1.		A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Missense_Mutation	SNP	ENST00000231751.4	37	c.732C>A	CCDS33747.1	.	.	.	.	.	.	.	.	.	.	G	6.625	0.483748	0.12581	.	.	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496	T;T;T;T	0.36878	1.23;1.23;1.23;1.23	4.9	-2.98	0.05513	.	0.612672	0.19196	N	0.120314	T	0.18759	0.0450	L	0.31476	0.935	0.09310	N	1	B;B;B	0.15719	0.014;0.004;0.014	B;B;B	0.22880	0.042;0.014;0.042	T	0.11616	-1.0580	10	0.56958	D	0.05	-0.7137	0.8816	0.01235	0.369:0.1099:0.2801:0.241	.	244;231;244	E7ER44;E7EQB2;P02788	.;.;TRFL_HUMAN	E	244;200;244;231	ENSP00000231751:D244E;ENSP00000405719:D200E;ENSP00000405546:D244E;ENSP00000397427:D231E	ENSP00000231751:D244E	D	-	3	2	LTF	46467139	0.031000	0.19500	0.000000	0.03702	0.002000	0.02628	0.562000	0.23531	-0.771000	0.04608	-0.736000	0.03550	GAC		0.562	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343		62	79	1	0	4.96364e-44	1	5.63183e-44	62	79				
ZNF676	163223	broad.mit.edu	37	19	22363305	22363305	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr19:22363305G>A	ENST00000397121.2	-	3	1531	c.1214C>T	c.(1213-1215)tCc>tTc	p.S405F		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	405					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GAGCTTTGAGGATGAGTTGGA	0.423																																						ENST00000397121.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(1213-1215)tCc>tTc		zinc finger protein 676							79.0	82.0	81.0					19																	22363305		2140	4267	6407	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363305G>A	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1214C>T	19.37:g.22363305G>A	ENSP00000380310:p.Ser405Phe						p.S405F	NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN			3	1531	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	405					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.1214C>T	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	0.100	-1.153144	0.01700	.	.	ENSG00000196109	ENST00000397121	T	0.08008	3.14	0.81	-1.62	0.08372	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17746	0.0426	M	0.79011	2.435	0.09310	N	1	D	0.71674	0.998	P	0.59889	0.865	T	0.07849	-1.0751	9	0.36615	T	0.2	.	3.2543	0.06826	0.0:0.5087:0.2813:0.21	.	405	Q8N7Q3	ZN676_HUMAN	F	405	ENSP00000380310:S405F	ENSP00000380310:S405F	S	-	2	0	ZNF676	22155145	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.822000	0.00748	-1.275000	0.02417	-1.271000	0.01417	TCC		0.423	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		50	73	0	0	0	1	0	50	73				
DCHS2	54798	broad.mit.edu	37	4	155253687	155253687	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr4:155253687G>T	ENST00000357232.4	-	9	2175	c.2176C>A	c.(2176-2178)Cag>Aag	p.Q726K	DCHS2_ENST00000339452.1_Missense_Mutation_p.Q1225K|DCHS2_ENST00000507542.1_5'Flank	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	726	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TATAATAGCTGTCCATTCTTT	0.383																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(2176-2178)Cag>Aag		dachsous cadherin-related 2							99.0	107.0	104.0					4																	155253687		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155253687G>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.2176C>A	4.37:g.155253687G>T	ENSP00000349768:p.Gln726Lys					DCHS2_ENST00000339452.1_Missense_Mutation_p.Q1225K	p.Q726K	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	9	2175	-	all_hematologic(180;0.208)	Renal(120;0.0854)	726			Cadherin 6.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.2176C>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.752586	0.69533	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.60672	0.17;0.77	5.01	5.01	0.66863	Cadherin (3);Cadherin-like (1);	0.204955	0.32901	N	0.005513	T	0.61160	0.2325	N	0.21194	0.64	0.80722	D	1	D;P	0.62365	0.991;0.926	P;P	0.60609	0.877;0.448	T	0.58526	-0.7621	10	0.27785	T	0.31	.	18.6777	0.91534	0.0:0.0:1.0:0.0	.	1225;726	E9PC11;Q6V1P9	.;PCD23_HUMAN	K	726;1225;1225	ENSP00000349768:Q726K;ENSP00000345062:Q1225K	ENSP00000345062:Q1225K	Q	-	1	0	DCHS2	155473137	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	6.076000	0.71267	2.462000	0.83206	0.591000	0.81541	CAG		0.383	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		35	37	1	0	4.65686e-17	1	5.08805e-17	35	37				
KDM4B	23030	broad.mit.edu	37	19	5039897	5039897	+	Silent	SNP	C	C	T			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr19:5039897C>T	ENST00000159111.4	+	4	410	c.192C>T	c.(190-192)gaC>gaT	p.D64D	KDM4B_ENST00000381759.4_Silent_p.D64D|KDM4B_ENST00000536461.1_Silent_p.D64D	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	64					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ATGACATCGACGACGTGGTGA	0.612																																						ENST00000159111.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(190-192)gaC>gaT		lysine (K)-specific demethylase 4B							79.0	76.0	77.0					19																	5039897		2203	4300	6503	SO:0001819	synonymous_variant	23030				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr19:5039897C>T	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.192C>T	19.37:g.5039897C>T						KDM4B_ENST00000536461.1_Silent_p.D64D|KDM4B_ENST00000381759.4_Silent_p.D64D	p.D64D	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN			4	410	+			64					B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Silent	SNP	ENST00000159111.4	37	c.192C>T	CCDS12138.1																																																																																				0.612	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		23	56	0	0	0	1	0	23	56				
TLE1	7088	broad.mit.edu	37	9	84205796	84205796	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr9:84205796C>T	ENST00000376499.3	-	16	2817	c.1753G>A	c.(1753-1755)Gat>Aat	p.D585N		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	585					multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						ACCTTGGAATCGGGGCTGATG	0.607																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	ENST00000376499.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						c.(1753-1755)Gat>Aat		transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)							80.0	78.0	79.0					9																	84205796		2203	4300	6503	SO:0001583	missense	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84205796C>T		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.1753G>A	9.37:g.84205796C>T	ENSP00000365682:p.Asp585Asn						p.D585N	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN			16	2817	-			585					A8K495|Q5T3G4|Q969V9	Missense_Mutation	SNP	ENST00000376499.3	37	c.1753G>A	CCDS6661.1	.	.	.	.	.	.	.	.	.	.	c	37	6.053339	0.97241	.	.	ENSG00000196781	ENST00000376499	T	0.14391	2.51	5.96	5.96	0.96718	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.45216	0.1331	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	T	0.39292	-0.9621	10	0.87932	D	0	-27.4732	20.422	0.99049	0.0:1.0:0.0:0.0	.	570;611;585	B4DEF9;Q59EF7;Q04724	.;.;TLE1_HUMAN	N	585	ENSP00000365682:D585N	ENSP00000365682:D585N	D	-	1	0	TLE1	83395616	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.832000	0.97577	0.655000	0.94253	GAT		0.607	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		40	50	0	0	0	1	0	40	50				
KDM5D	8284	broad.mit.edu	37	Y	21883102	21883102	+	Silent	SNP	C	C	A			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chrY:21883102C>A	ENST00000317961.4	-	12	1738	c.1467G>T	c.(1465-1467)gtG>gtT	p.V489V	KDM5D_ENST00000541639.1_Silent_p.V520V|KDM5D_ENST00000382806.2_Silent_p.V432V	NM_004653.4	NP_004644.2	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	489	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K4 demethylation (GO:0034720)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	ACAGCCAGGGCACCTTCATGC	0.478																																						ENST00000541639.1																			0				kidney(1)|large_intestine(9)|lung(6)|skin(1)	17						c.(1558-1560)gtG>gtT		lysine (K)-specific demethylase 5D	Vitamin C(DB00126)						112.0	111.0	111.0					Y																	21883102		613	1981	2594	SO:0001819	synonymous_variant	8284				chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrY:21883102C>A	U52191	CCDS14794.1, CCDS55554.1, CCDS55555.1	Yq11	2013-01-28	2009-04-06	2009-04-06	ENSG00000012817	ENSG00000012817		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11115	protein-coding gene	gene with protein product		426000	"""Jumonji, AT rich interactive domain 1D (RBP2-like)"", ""Smcy homolog, Y-linked (mouse)"", ""jumonji, AT rich interactive domain 1D"""	HYA, HY, SMCY, JARID1D		795123, 8841177	Standard	NM_001146705		Approved	KIAA0234	uc011naz.2	Q9BY66	OTTHUMG00000036508	ENST00000317961.4:c.1467G>T	Y.37:g.21883102C>A						KDM5D_ENST00000382806.2_Silent_p.V432V|KDM5D_ENST00000317961.4_Silent_p.V489V	p.V520V	NM_001146705.1	NP_001140177.1	Q9BY66	KDM5D_HUMAN			13	1847	-			489			JmjC.		A2RU19|A6H8V7|B7ZLX1|Q92509|Q92809|Q9HCU1	Silent	SNP	ENST00000317961.4	37	c.1560G>T	CCDS14794.1																																																																																				0.478	KDM5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088790.1	NM_004653		25	6	1	0	1.66031e-10	1	1.78105e-10	25	6				
ABRA	137735	broad.mit.edu	37	8	107782091	107782091	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr8:107782091A>G	ENST00000311955.3	-	1	382	c.328T>C	c.(328-330)Tcc>Ccc	p.S110P		NM_139166.4	NP_631905.1			actin-binding Rho activating protein											breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			ACCGTTTTGGACACCTCTTTC	0.562																																						ENST00000311955.3																			0				breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27						c.(328-330)Tcc>Ccc		actin-binding Rho activating protein							138.0	130.0	133.0					8																	107782091		2203	4300	6503	SO:0001583	missense	137735				positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding	g.chr8:107782091A>G	AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"""striated muscle activator of Rho-dependent signaling"""	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.328T>C	8.37:g.107782091A>G	ENSP00000311436:p.Ser110Pro						p.S110P	NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)		1	382	-			110						Missense_Mutation	SNP	ENST00000311955.3	37	c.328T>C	CCDS6305.1	.	.	.	.	.	.	.	.	.	.	A	12.65	2.001695	0.35320	.	.	ENSG00000174429	ENST00000311955	D	0.92965	-3.14	6.07	2.26	0.28386	.	0.458019	0.27172	N	0.020596	T	0.77678	0.4166	N	0.03608	-0.345	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.67405	-0.5679	10	0.49607	T	0.09	-14.0694	4.4314	0.11529	0.1121:0.063:0.2251:0.5998	.	110	Q8N0Z2	ABRA_HUMAN	P	110	ENSP00000311436:S110P	ENSP00000311436:S110P	S	-	1	0	ABRA	107851267	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.434000	0.34958	0.543000	0.28864	-0.275000	0.10095	TCC		0.562	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	NM_139166		5	61	0	0	0	1	0	5	61				
TUBBP5	643224	broad.mit.edu	37	9	141070695	141070695	+	RNA	SNP	G	G	A	rs183702666	byFrequency	TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr9:141070695G>A	ENST00000503395.1	+	0	1470									tubulin, beta pseudogene 5									p.R105H(1)									GCCAAGGGACGCTACACCGAA	0.592													.|||	1260	0.251597	0.2526	0.2939	5008	,	,		9939	0.125		0.339	False		,,,				2504	0.2607					ENST00000503395.1																			1	Substitution - Missense(1)	p.R105H(1)	prostate(1)																																																0							g.chr9:141070695G>A	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070695G>A														0	1470	+									RNA	SNP	ENST00000503395.1	37																																																																																						0.592	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		3	15	0	0	0	1	0	3	15				
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs2684618	byFrequency	TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr17:43587576A>G	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		tctgaaaagaaaagaaaaaaa	0.428													A|||	308	0.0615016	0.0204	0.0548	5008	,	,		16882	0.0685		0.1113	False		,,,				2504	0.0634					ENST00000253803.2																			0																																																			0							g.chr17:43587576A>G	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587576A>G						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.428	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	52	0	0	0	1	0	3	52				
KCNJ16	3773	broad.mit.edu	37	17	68129031	68129031	+	Missense_Mutation	SNP	G	G	A	rs200564862		TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr17:68129031G>A	ENST00000589377.1	+	2	966	c.803G>A	c.(802-804)cGc>cAc	p.R268H	KCNJ16_ENST00000392670.1_Missense_Mutation_p.R268H|KCNJ16_ENST00000586462.1_Missense_Mutation_p.R307H|KCNJ16_ENST00000283936.1_Missense_Mutation_p.R268H|KCNJ16_ENST00000392671.1_Missense_Mutation_p.R268H|KCNJ16_ENST00000585558.1_Missense_Mutation_p.R303H	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	268					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					GCCCTTGACCGCAAAGCAGTA	0.428																																						ENST00000585558.1																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						c.(907-909)cGc>cAc		potassium inwardly-rectifying channel, subfamily J, member 16		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	138.0	134.0	135.0		803,803,803	6.0	1.0	17		135	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense,missense	KCNJ16	NM_018658.1,NM_170741.1,NM_170742.1	29,29,29	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	268/419,268/419,268/419	68129031	1,13001	2203	4298	6501	SO:0001583	missense	3773				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr17:68129031G>A	AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.803G>A	17.37:g.68129031G>A	ENSP00000465967:p.Arg268His					KCNJ16_ENST00000283936.1_Missense_Mutation_p.R268H|KCNJ16_ENST00000586462.1_Missense_Mutation_p.R307H|KCNJ16_ENST00000392671.1_Missense_Mutation_p.R268H|KCNJ16_ENST00000392670.1_Missense_Mutation_p.R268H|KCNJ16_ENST00000589377.1_Missense_Mutation_p.R268H	p.R303H			Q9NPI9	IRK16_HUMAN			4	1296	+	Breast(10;2.96e-09)		268						Missense_Mutation	SNP	ENST00000589377.1	37	c.908G>A	CCDS11687.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.734643	0.48939	0.0	1.16E-4	ENSG00000153822	ENST00000283936;ENST00000392671;ENST00000392670	D;D;D	0.94184	-3.37;-3.37;-3.37	5.96	5.96	0.96718	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.120010	0.56097	D	0.000029	D	0.95417	0.8512	L	0.52573	1.65	0.43218	D	0.995095	D;D	0.89917	1.0;0.994	D;P	0.64506	0.926;0.664	D	0.94147	0.7402	9	.	.	.	.	19.9993	0.97404	0.0:0.0:1.0:0.0	.	268;268	A8K434;Q9NPI9	.;IRK16_HUMAN	H	268	ENSP00000283936:R268H;ENSP00000376439:R268H;ENSP00000376438:R268H	.	R	+	2	0	KCNJ16	65640626	0.536000	0.26378	0.985000	0.45067	0.056000	0.15407	3.645000	0.54389	2.823000	0.97156	0.650000	0.86243	CGC		0.428	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1	NM_018658		4	180	0	0	0	1	0	4	180				
ABCG1	9619	broad.mit.edu	37	21	43706090	43706090	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr21:43706090A>G	ENST00000361802.2	+	8	1104	c.959A>G	c.(958-960)aAc>aGc	p.N320S	ABCG1_ENST00000347800.2_Missense_Mutation_p.N317S|ABCG1_ENST00000343687.3_Missense_Mutation_p.N331S|ABCG1_ENST00000398449.3_Missense_Mutation_p.N320S|ABCG1_ENST00000398437.1_Missense_Mutation_p.N466S|ABCG1_ENST00000340588.4_Missense_Mutation_p.N428S|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398457.2_Missense_Mutation_p.N322S	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	320					amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	ACCTACCACAACCCAGCAGAT	0.517																																						ENST00000398437.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29						c.(1396-1398)aAc>aGc		ATP-binding cassette, sub-family G (WHITE), member 1	Adenosine triphosphate(DB00171)						155.0	155.0	155.0					21																	43706090		2203	4300	6503	SO:0001583	missense	9619				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	g.chr21:43706090A>G	U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.959A>G	21.37:g.43706090A>G	ENSP00000354995:p.Asn320Ser					ABCG1_ENST00000398457.2_Missense_Mutation_p.N322S|ABCG1_ENST00000347800.2_Missense_Mutation_p.N317S|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000340588.4_Missense_Mutation_p.N428S|ABCG1_ENST00000361802.2_Missense_Mutation_p.N320S|ABCG1_ENST00000398449.3_Missense_Mutation_p.N320S|ABCG1_ENST00000343687.3_Missense_Mutation_p.N331S	p.N466S			P45844	ABCG1_HUMAN			9	1545	+			320			ABC transmembrane type-2.		Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	ENST00000361802.2	37	c.1397A>G	CCDS13682.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.147348	0.77888	.	.	ENSG00000160179	ENST00000398457;ENST00000347800;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588	T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	4.03	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.73218	0.3559	L	0.58302	1.8	0.80722	D	1	D;D;D;D;D;D	0.69078	0.995;0.994;0.974;0.997;0.995;0.996	P;D;P;D;D;D	0.70935	0.831;0.919;0.562;0.96;0.957;0.971	T	0.73442	-0.3981	9	.	.	.	-44.5327	13.2719	0.60165	1.0:0.0:0.0:0.0	.	331;331;320;320;317;322	B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3	.;.;ABCG1_HUMAN;.;.;.	S	322;317;320;320;331;466;428	ENSP00000381475:N322S;ENSP00000291524:N317S;ENSP00000381467:N320S;ENSP00000354995:N320S;ENSP00000339744:N331S;ENSP00000381464:N466S;ENSP00000343820:N428S	.	N	+	2	0	ABCG1	42579159	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.449000	0.90337	1.572000	0.49736	0.533000	0.62120	AAC		0.517	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	NM_207174		74	81	0	0	0	1	0	74	81				
PAK7	57144	broad.mit.edu	37	20	9538335	9538335	+	Missense_Mutation	SNP	C	C	G	rs34102290	byFrequency	TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr20:9538335C>G	ENST00000378429.3	-	8	2209	c.1663G>C	c.(1663-1665)Gct>Cct	p.A555P	PAK7_ENST00000378423.1_Missense_Mutation_p.A555P|PAK7_ENST00000353224.5_Missense_Mutation_p.A555P	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	555	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		A -> S (in dbSNP:rs34102290). {ECO:0000269|PubMed:17344846}.		apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TAGGAGAGAGCTCTCAGAACT	0.423																																						ENST00000378429.3																			0				NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81						c.(1663-1665)Gct>Cct		p21 protein (Cdc42/Rac)-activated kinase 7							142.0	122.0	129.0					20																	9538335		2203	4300	6503	SO:0001583	missense	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9538335C>G	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1663G>C	20.37:g.9538335C>G	ENSP00000367686:p.Ala555Pro					PAK7_ENST00000378423.1_Missense_Mutation_p.A555P|PAK7_ENST00000353224.5_Missense_Mutation_p.A555P	p.A555P	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		8	2209	-			555		A -> S (in dbSNP:rs34102290).	Protein kinase.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	c.1663G>C	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	C	33	5.241844	0.95272	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.26223	1.75;1.75;1.75	5.69	5.69	0.88448	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.63827	0.2544	H	0.96633	3.855	0.80722	D	1	D;D	0.56746	0.977;0.977	P;P	0.57776	0.827;0.827	T	0.77172	-0.2685	9	.	.	.	.	19.8171	0.96573	0.0:1.0:0.0:0.0	.	555;555	B0AZM9;Q9P286	.;PAK7_HUMAN	P	555;555;555;503	ENSP00000367686:A555P;ENSP00000322957:A555P;ENSP00000367679:A555P	.	A	-	1	0	PAK7	9486335	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.678000	0.91216	0.643000	0.83706	GCT		0.423	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			29	47	0	0	0	1	0	29	47				
CNTN2	6900	broad.mit.edu	37	1	205033529	205033529	+	Silent	SNP	C	C	T			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr1:205033529C>T	ENST00000331830.4	+	11	1604	c.1320C>T	c.(1318-1320)tgC>tgT	p.C440C	AL583832.1_ENST00000515887.1_RNA	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	440	Ig-like C2-type 5.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TTATCCCCTGCCAGCCCCGGG	0.637																																					Melanoma(183;2548 2817 37099 41192)	ENST00000331830.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54						c.(1318-1320)tgC>tgT		contactin 2 (axonal)							88.0	104.0	99.0					1																	205033529		2203	4300	6503	SO:0001819	synonymous_variant	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205033529C>T	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.1320C>T	1.37:g.205033529C>T							p.C440C	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		11	1604	+	all_cancers(21;0.144)|Breast(84;0.0437)		440			Ig-like C2-type 5.		P78432|Q5T054	Silent	SNP	ENST00000331830.4	37	c.1320C>T	CCDS1449.1																																																																																				0.637	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		4	185	0	0	0	1	0	4	185				
OR6C3	254786	broad.mit.edu	37	12	55725832	55725832	+	Silent	SNP	C	C	T			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr12:55725832C>T	ENST00000379667.1	+	1	348	c.348C>T	c.(346-348)tcC>tcT	p.S116S		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	116					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						CTGCCATGTCCTATGACCGCT	0.438																																						ENST00000379667.1																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						c.(346-348)tcC>tcT		olfactory receptor, family 6, subfamily C, member 3							139.0	130.0	133.0					12																	55725832		2203	4300	6503	SO:0001819	synonymous_variant	254786				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55725832C>T	AF179770	CCDS31819.1	12q13.2	2013-09-23			ENSG00000205329	ENSG00000205329		"""GPCR / Class A : Olfactory receptors"""	15437	protein-coding gene	gene with protein product							Standard	NM_054104		Approved	OST709	uc010spj.2	Q9NZP0	OTTHUMG00000169861	ENST00000379667.1:c.348C>T	12.37:g.55725832C>T							p.S116S	NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN			1	348	+			116						Silent	SNP	ENST00000379667.1	37	c.348C>T	CCDS31819.1																																																																																				0.438	OR6C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406309.1			53	74	0	0	0	1	0	53	74				
MUC17	140453	broad.mit.edu	37	7	100701287	100701287	+	Nonsense_Mutation	SNP	C	C	T	rs148704443		TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr7:100701287C>T	ENST00000306151.4	+	13	13508	c.13444C>T	c.(13444-13446)Cga>Tga	p.R4482*	RN7SKP54_ENST00000410704.1_RNA	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4482			R -> Q (in dbSNP:rs9656065).		cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TTTTCAGATCCGAATTCAGAG	0.473																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(13444-13446)Cga>Tga		mucin 17, cell surface associated		C	stop/ARG	3,4403	6.2+/-15.9	0,3,2200	92.0	85.0	88.0		13444	2.6	0.4	7	dbSNP_134	88	2,8598	2.2+/-6.3	0,2,4298	yes	stop-gained	MUC17	NM_001040105.1		0,5,6498	TT,TC,CC		0.0233,0.0681,0.0384		4482/4494	100701287	5,13001	2203	4300	6503	SO:0001587	stop_gained	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100701287C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.13444C>T	7.37:g.100701287C>T	ENSP00000302716:p.Arg4482*						p.R4482*	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			13	13508	+	Lung NSC(181;0.136)|all_lung(186;0.182)		4482		R -> Q (in dbSNP:rs9656065).			O14761|Q685J2|Q8TDH7	Nonsense_Mutation	SNP	ENST00000306151.4	37	c.13444C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	54	21.693112	0.99942	6.81E-4	2.33E-4	ENSG00000169876	ENST00000306151	.	.	.	3.54	2.58	0.30949	.	.	.	.	.	.	.	.	.	.	.	0.34942	D	0.750437	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.3491	0.26680	0.3672:0.6328:0.0:0.0	.	.	.	.	X	4482	.	ENSP00000302716:R4482X	R	+	1	2	MUC17	100488007	0.128000	0.22383	0.385000	0.26158	0.494000	0.33585	0.363000	0.20301	0.952000	0.37798	0.563000	0.77884	CGA		0.473	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		12	33	0	0	0	1	0	12	33				
SRSF12	135295	broad.mit.edu	37	6	89814872	89814872	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr6:89814872C>T	ENST00000452027.2	-	4	575	c.382G>A	c.(382-384)Gga>Aga	p.G128R		NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN	serine/arginine-rich splicing factor 12	128	Arg/Ser-rich (RS domain).				cytoplasmic transport (GO:0016482)|mRNA 5'-splice site recognition (GO:0000395)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|spliceosomal tri-snRNP complex assembly (GO:0000244)	nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RS domain binding (GO:0050733)|unfolded protein binding (GO:0051082)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						CTATTTCTTCCCCATGAAGAA	0.383																																						ENST00000452027.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						c.(382-384)Gga>Aga		serine/arginine-rich splicing factor 12							71.0	60.0	64.0					6																	89814872		1820	4078	5898	SO:0001583	missense	135295				assembly of spliceosomal tri-snRNP|cytoplasmic transport|negative regulation of nuclear mRNA splicing, via spliceosome|nuclear mRNA 5'-splice site recognition|regulation of alternative nuclear mRNA splicing, via spliceosome	nucleoplasm	nucleotide binding|RNA binding|RS domain binding|unfolded protein binding	g.chr6:89814872C>T	AF449428	CCDS47459.1	6q16.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000154548	ENSG00000154548		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	21220	protein-coding gene	gene with protein product	"""splicing factor, arginine/serine-rich 19"", ""SR splicing factor 12"""		"""splicing factor, arginine/serine-rich 13B"""	SFRS13B		11684676, 20516191	Standard	NM_080743		Approved	SRrp35, SFRS19	uc021zcq.1	Q8WXF0	OTTHUMG00000015192	ENST00000452027.2:c.382G>A	6.37:g.89814872C>T	ENSP00000414302:p.Gly128Arg						p.G128R	NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN			4	575	-			128			Arg/Ser-rich (RS domain).		B2RA22|Q5T7K0|Q8WW25	Missense_Mutation	SNP	ENST00000452027.2	37	c.382G>A	CCDS47459.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612791	0.46631	.	.	ENSG00000154548	ENST00000452027	T	0.08546	3.08	5.11	5.11	0.69529	.	0.105570	0.41712	D	0.000827	T	0.06325	0.0163	L	0.43152	1.355	0.42033	D	0.991034	P	0.52316	0.952	P	0.52267	0.694	T	0.08411	-1.0723	10	0.05721	T	0.95	.	17.4736	0.87653	0.0:1.0:0.0:0.0	.	128	Q8WXF0	SRS12_HUMAN	R	128	ENSP00000414302:G128R	ENSP00000414302:G128R	G	-	1	0	SRSF12	89871591	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.538000	0.73852	2.660000	0.90430	0.650000	0.86243	GGA		0.383	SRSF12-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041474.2	NM_080743		4	11	0	0	0	1	0	4	11				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	44	0	0	0	1	0	3	44				
ESPNP	284729	broad.mit.edu	37	1	17034614	17034615	+	RNA	INS	-	-	CC	rs537683833|rs575049594	byFrequency	TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr1:17034614_17034615insCC	ENST00000492551.1	-	0	194					NR_026567.1				espin pseudogene																		TCAGCGCCTCACCCCCTCCGAG	0.728																																						ENST00000492551.1																			0																																																			0							g.chr1:17034614_17034615insCC	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17034617_17034618dupCC								NR_026567.1						0	194	-									RNA	INS	ENST00000492551.1	37																																																																																						0.728	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			2	4						2	4	---	---	---	---
TRBV7-8	28590	broad.mit.edu	37	7	142099805	142099806	+	RNA	DEL	AC	AC	-	rs368401262		TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr7:142099805_142099806delAC	ENST00000390359.3	-	0	88									T cell receptor beta variable 7-8																		TAGTCATcatacacacacacac	0.441																																						ENST00000390359.3																			0																	1150,504,192,73,32,19,1642		93,271,69,34,0,6,584,12,24,19,0,2,164,6,1,0,1,85,0,0,0,19,5,0,22,2,6,381						-3.9	0.0		dbSNP_134	72	454,34,630,2,192,56,6534		14,14,43,0,0,6,363,1,6,0,0,0,12,12,1,0,4,552,0,0,0,1,3,0,186,1,44,2688	no	intergenic				107,285,112,34,0,12,947,13,30,19,0,2,176,18,2,0,5,637,0,0,0,20,8,0,208,3,50,3069	A1A1,A1A2,A1A3,A1A4,A1A5,A1A6,A1R,A2A2,A2A3,A2A4,A2A5,A2A6,A2R,A3A3,A3A4,A3A5,A3A6,A3R,A4A4,A4A5,A4A6,A4R,A5A5,A5A6,A5R,A6A6,A6R,RR		17.3121,54.5404,28.9908				1604,538,822,75,224,75,8176						0							g.chr7:142099805_142099806delAC	M11953		7q34	2012-02-07			ENSG00000229200			"""T cell receptors / TRB locus"""	12242	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV78, TCRBV6S2A1N1T, TCRBV7S8			OTTHUMG00000158875		7.37:g.142099815_142099816delAC														0	88	-									RNA	DEL	ENST00000390359.3	37																																																																																						0.441	TRBV7-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352483.1	NG_001333		8	51						8	51	---	---	---	---
CTB-134H23.3	0	broad.mit.edu	37	16	29113498	29113498	+	RNA	DEL	T	T	-	rs11366120	byFrequency	TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr16:29113498delT	ENST00000562618.1	-	0	1840				RRN3P2_ENST00000564580.1_RNA																							AGGAGGTGGAttttttttttc	0.542													|||unknown(NO_COVERAGE)	2145	0.428315	0.5507	0.4856	5008	,	,		13214	0.248		0.4334	False		,,,				2504	0.4029					ENST00000564580.1																			0																																																			0							g.chr16:29113498delT																													16.37:g.29113498delT														0	1360	+									RNA	DEL	ENST00000562618.1	37																																																																																						0.542	CTB-134H23.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433241.1			4	8						4	8	---	---	---	---
ZNF285	26974	broad.mit.edu	37	19	44891010	44891010	+	Frame_Shift_Del	DEL	G	G	-	rs150792548	byFrequency	TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chr19:44891010delG	ENST00000330997.4	-	4	1461	c.1397delC	c.(1396-1398)gcgfs	p.A466fs	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Frame_Shift_Del_p.A466fs|ZNF285_ENST00000591679.1_Frame_Shift_Del_p.A473fs	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	466					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A466G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						AGAGCTATACGCAAAATCCTT	0.418																																						ENST00000330997.4																			1	Substitution - Missense(1)	p.A466G(1)	skin(1)	breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(1396-1398)ggfs		zinc finger protein 285							83.0	84.0	83.0					19																	44891010		2203	4300	6503	SO:0001589	frameshift_variant	26974							g.chr19:44891010delG	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1397delC	19.37:g.44891010delG	ENSP00000333595:p.Ala466fs					ZNF285_ENST00000544719.2_Frame_Shift_Del_p.A466fs|ZNF285_ENST00000591679.1_Frame_Shift_Del_p.A473fs|CTC-512J12.6_ENST00000588212.1_Intron	p.A466fs	NM_152354.3	NP_689567.3					4	1461	-								Q17RJ3|Q6B0A8|Q6ISR5	Frame_Shift_Del	DEL	ENST00000330997.4	37	c.1397delC	CCDS12638.1																																																																																				0.418	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		8	79						8	79	---	---	---	---
BCORL1	63035	broad.mit.edu	37	X	129148368	129148369	+	Frame_Shift_Ins	INS	-	-	C			TCGA-YL-A8SP-01B-11D-A377-08	TCGA-YL-A8SP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8746255-e8ec-4692-8a09-0a6438f5efa6	5d447810-0a8c-4047-90aa-835f4f42134d	g.chrX:129148368_129148369insC	ENST00000218147.7	+	4	1817_1818	c.1620_1621insC	c.(1621-1623)cccfs	p.P541fs	BCORL1_ENST00000303743.5_Frame_Shift_Ins_p.P541fs|BCORL1_ENST00000540052.1_Frame_Shift_Ins_p.P541fs|BCORL1_ENST00000359304.2_Frame_Shift_Ins_p.P541fs			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	541	Pro-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CCCAGCCTGCACCCGATGGGGT	0.624																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(1618-1623)gcccgafs		BCL6 corepressor-like 1																																				SO:0001589	frameshift_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129148368_129148369insC	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.1623dupC	X.37:g.129148371_129148371dupC	ENSP00000218147:p.Pro541fs					BCORL1_ENST00000218147.7_Frame_Shift_Ins_p.R541fs|BCORL1_ENST00000303743.5_Frame_Shift_Ins_p.R541fs|BCORL1_ENST00000359304.2_Frame_Shift_Ins_p.R541fs	p.R541fs	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			3	1664_1665	+			541			Pro-rich.		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Frame_Shift_Ins	INS	ENST00000218147.7	37	c.1620_1621insC	CCDS14616.1																																																																																				0.624	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		7	105						7	105	---	---	---	---
