#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_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
CADM3	57863	genome.wustl.edu	37	1	159163753	159163753	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A1PG-01A-11D-A142-09	TCGA-EW-A1PG-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bd3801e2-c5bb-4116-9ce3-97903fc6956e	01c3cc25-bb81-4cc3-a9aa-e07f44991c3f	g.chr1:159163753C>T	ENST00000368125.4	+	5	771	c.614C>T	c.(613-615)gCg>gTg	p.A205V	CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Missense_Mutation_p.A239V	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	205	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GATGATGGGGCGAGCATCGTG	0.502																																						dbGAP											0													121.0	107.0	112.0					1																	159163753		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.614C>T	1.37:g.159163753C>T	ENSP00000357107:p.Ala205Val		Q8IZQ9|Q9NVJ5|Q9UJP1	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like	p.A239V	ENST00000368125.4	37	c.716	CCDS44251.1	1	.	.	.	.	.	.	.	.	.	.	C	4.919	0.170746	0.09391	.	.	ENSG00000162706	ENST00000368124;ENST00000368125	D;D	0.86562	-2.14;-2.14	5.0	1.92	0.25849	Immunoglobulin subtype (1);CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.121098	0.53938	N	0.000058	T	0.49508	0.1561	N	0.04297	-0.235	0.47407	D	0.999412	B;B	0.21147	0.052;0.048	B;B	0.17979	0.02;0.014	T	0.42310	-0.9459	10	0.11794	T	0.64	.	8.3535	0.32316	0.0:0.7148:0.0:0.2852	.	205;239	Q8N126;Q8N126-2	CADM3_HUMAN;.	V	239;205	ENSP00000357106:A239V;ENSP00000357107:A205V	ENSP00000357106:A239V	A	+	2	0	CADM3	157430377	0.080000	0.21391	0.373000	0.26003	0.902000	0.53008	0.323000	0.19593	0.708000	0.31955	0.561000	0.74099	GCG	CADM3	-	pfam_CD80_C2-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000162706		0.502	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CADM3	HGNC	protein_coding	OTTHUMT00000090330.1	57	0.00	0	C	NM_021189		159163753	159163753	+1	no_errors	ENST00000368124	ensembl	human	known	69_37n	missense	26	21.21	7	SNP	0.488	T
CDH26	60437	genome.wustl.edu	37	20	58559787	58559787	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EW-A1PG-01A-11D-A142-09	TCGA-EW-A1PG-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bd3801e2-c5bb-4116-9ce3-97903fc6956e	01c3cc25-bb81-4cc3-a9aa-e07f44991c3f	g.chr20:58559787T>A	ENST00000244047.5	+	6	946	c.635T>A	c.(634-636)tTa>tAa	p.L212*	CDH26_ENST00000348616.4_Nonsense_Mutation_p.L212*			Q8IXH8	CAD26_HUMAN	cadherin 26	212	Cadherin 2. {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)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CAAACACCATTACTGAAAGAA	0.368																																						dbGAP											0													129.0	132.0	131.0					20																	58559787		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.635T>A	20.37:g.58559787T>A	ENSP00000244047:p.Leu212*		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Nonsense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L212*	ENST00000244047.5	37	c.635		20	.	.	.	.	.	.	.	.	.	.	T	23.3	4.397341	0.83120	.	.	ENSG00000124215	ENST00000244047;ENST00000348616	.	.	.	4.27	-0.554	0.11811	.	1.158390	0.06209	N	0.684581	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	4.9932	0.14226	0.0:0.4157:0.1822:0.4021	.	.	.	.	X	212	.	ENSP00000244047:L212X	L	+	2	0	CDH26	57993182	0.000000	0.05858	0.001000	0.08648	0.278000	0.26855	-1.626000	0.02035	-0.162000	0.10964	-0.256000	0.11100	TTA	CDH26	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000124215		0.368	CDH26-201	KNOWN	basic	protein_coding	CDH26	HGNC	protein_coding		115	0.00	0	T	NM_177980		58559787	58559787	+1	no_errors	ENST00000244047	ensembl	human	known	69_37n	nonsense	84	10.64	10	SNP	0.000	A
FRAS1	80144	genome.wustl.edu	37	4	79462038	79462038	+	Silent	SNP	G	G	A			TCGA-EW-A1PG-01A-11D-A142-09	TCGA-EW-A1PG-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bd3801e2-c5bb-4116-9ce3-97903fc6956e	01c3cc25-bb81-4cc3-a9aa-e07f44991c3f	g.chr4:79462038G>A	ENST00000264895.6	+	74	12239	c.11799G>A	c.(11797-11799)caG>caA	p.Q3933Q		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3929					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GCCAGAAACAGAGGAAGAAGA	0.507																																						dbGAP											0													60.0	66.0	64.0					4																	79462038		1846	4088	5934	-	-	-	SO:0001819	synonymous_variant	0			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.11799G>A	4.37:g.79462038G>A			A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.E2162K	ENST00000264895.6	37	c.6484	CCDS54771.1	4	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.722484	0.00700	.	.	ENSG00000138759	ENST00000512123	.	.	.	6.17	2.08	0.27032	.	.	.	.	.	T	0.22742	0.0549	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.18840	-1.0324	4	.	.	.	.	2.5434	0.04731	0.2262:0.1993:0.4592:0.1153	.	.	.	.	K	2162	.	.	E	+	1	0	FRAS1	79681062	0.009000	0.17119	0.952000	0.39060	0.076000	0.17211	0.264000	0.18497	0.926000	0.37118	0.655000	0.94253	GAG	FRAS1	-	NULL	ENSG00000138759		0.507	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FRAS1	HGNC	protein_coding		51	0.00	0	G			79462038	79462038	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000512123	ensembl	human	novel	69_37n	missense	38	13.64	6	SNP	0.045	A
IL10RB	3588	genome.wustl.edu	37	21	34668541	34668541	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A1PG-01A-11D-A142-09	TCGA-EW-A1PG-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bd3801e2-c5bb-4116-9ce3-97903fc6956e	01c3cc25-bb81-4cc3-a9aa-e07f44991c3f	g.chr21:34668541C>T	ENST00000290200.2	+	7	965	c.857C>T	c.(856-858)tCg>tTg	p.S286L		NM_000628.4	NP_000619.3	Q08334	I10R2_HUMAN	interleukin 10 receptor, beta	286				Missing (in Ref. 2; AAA86872). {ECO:0000305}.	cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						TTTCCATTGTCGGATGAGAAT	0.458																																					Melanoma(67;315 1275 21667 21943 44564)	dbGAP											0													209.0	184.0	192.0					21																	34668541		2203	4300	6503	-	-	-	SO:0001583	missense	0			U08988	CCDS13623.1	21q22.11	2014-09-17			ENSG00000243646	ENSG00000243646		"""Interleukins and interleukin receptors"", ""CD molecules"""	5965	protein-coding gene	gene with protein product		123889		CRFB4, D21S58, D21S66		8314576, 9312047	Standard	NM_000628		Approved	CRF2-4, CDW210B, IL-10R2		Q08334	OTTHUMG00000065128	ENST00000290200.2:c.857C>T	21.37:g.34668541C>T	ENSP00000290200:p.Ser286Leu		Q9BUU4	Missense_Mutation	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3	p.S286L	ENST00000290200.2	37	c.857	CCDS13623.1	21	.	.	.	.	.	.	.	.	.	.	C	8.928	0.962813	0.18583	.	.	ENSG00000243646	ENST00000290200;ENST00000539894	T	0.43294	0.95	4.04	3.13	0.36017	.	26.628400	0.00166	N	0.000000	T	0.39332	0.1074	L	0.47716	1.5	0.09310	N	1	B;B	0.23591	0.088;0.088	B;B	0.14023	0.01;0.01	T	0.18335	-1.0340	10	0.32370	T	0.25	-1.536	8.1022	0.30863	0.0:0.8864:0.0:0.1136	.	288;286	Q6ZVU9;Q08334	.;I10R2_HUMAN	L	286	ENSP00000290200:S286L	ENSP00000290200:S286L	S	+	2	0	IL10RB	33590411	0.003000	0.15002	0.001000	0.08648	0.468000	0.32798	1.775000	0.38584	1.048000	0.40298	0.485000	0.47835	TCG	IL10RB	-	NULL	ENSG00000243646		0.458	IL10RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL10RB	HGNC	protein_coding	OTTHUMT00000139831.3	104	0.00	0	C			34668541	34668541	+1	no_errors	ENST00000290200	ensembl	human	known	69_37n	missense	82	11.83	11	SNP	0.001	T
NEUROD1	4760	genome.wustl.edu	37	2	182542799	182542799	+	Missense_Mutation	SNP	A	A	T			TCGA-EW-A1PG-01A-11D-A142-09	TCGA-EW-A1PG-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bd3801e2-c5bb-4116-9ce3-97903fc6956e	01c3cc25-bb81-4cc3-a9aa-e07f44991c3f	g.chr2:182542799A>T	ENST00000295108.3	-	2	1246	c.789T>A	c.(787-789)gaT>gaA	p.D263E	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	263					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|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)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GGCTGGTGCAATCAGTCAGAG	0.557																																						dbGAP											0													69.0	71.0	70.0					2																	182542799		2203	4300	6503	-	-	-	SO:0001583	missense	0			U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"""Basic helix-loop-helix proteins"""	7762	protein-coding gene	gene with protein product	"""beta-cell E-box transactivator 2"", ""neurogenic helix-loop-helix protein NEUROD"""	601724	"""neurogenic differentiation 1"""	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.789T>A	2.37:g.182542799A>T	ENSP00000295108:p.Asp263Glu		B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Missense_Mutation	SNP	pfam_Neurogenic_DUF,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pirsf_TF_bHLH_NeuroD,pfscan_HLH_DNA-bd	p.D263E	ENST00000295108.3	37	c.789	CCDS2283.1	2	.	.	.	.	.	.	.	.	.	.	A	0.795	-0.757444	0.03019	.	.	ENSG00000162992	ENST00000295108	T	0.62788	-0.0	5.8	-3.65	0.04502	Neurogenic differentiation factor, domain of unknown function (1);	0.051532	0.64402	D	0.000001	T	0.37100	0.0991	N	0.17564	0.495	0.29012	N	0.886836	B	0.11235	0.004	B	0.15484	0.013	T	0.31833	-0.9929	10	0.11794	T	0.64	-37.3857	12.3221	0.54991	0.2583:0.1234:0.6183:0.0	.	263	Q13562	NDF1_HUMAN	E	263	ENSP00000295108:D263E	ENSP00000295108:D263E	D	-	3	2	NEUROD1	182251044	0.072000	0.21174	0.905000	0.35620	0.937000	0.57800	-0.666000	0.05280	-0.677000	0.05231	-0.256000	0.11100	GAT	NEUROD1	-	pfam_Neurogenic_DUF,pirsf_TF_bHLH_NeuroD	ENSG00000162992		0.557	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROD1	HGNC	protein_coding	OTTHUMT00000255792.2	43	0.00	0	A	NM_002500		182542799	182542799	-1	no_errors	ENST00000295108	ensembl	human	known	69_37n	missense	27	20.59	7	SNP	0.436	T
KLF7	8609	genome.wustl.edu	37	2	207988824	207988824	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EW-A1PG-01A-11D-A142-09	TCGA-EW-A1PG-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bd3801e2-c5bb-4116-9ce3-97903fc6956e	01c3cc25-bb81-4cc3-a9aa-e07f44991c3f	g.chr2:207988824A>T	ENST00000309446.6	-	2	783	c.407T>A	c.(406-408)tTa>tAa	p.L136*	KLF7-IT1_ENST00000428777.1_RNA|KLF7_ENST00000458272.1_Intron|KLF7_ENST00000467833.1_Intron|KLF7_ENST00000423015.1_Nonsense_Mutation_p.L136*|KLF7_ENST00000412414.2_Nonsense_Mutation_p.L108*|KLF7_ENST00000421199.1_Nonsense_Mutation_p.L103*	NM_003709.3	NP_003700.1	O75840	KLF7_HUMAN	Kruppel-like factor 7 (ubiquitous)	136					axon guidance (GO:0007411)|dendrite morphogenesis (GO:0048813)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		TGGGGGCGTTAATGAGGTCAC	0.582																																						dbGAP											0													74.0	73.0	73.0					2																	207988824		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB015132	CCDS2373.1, CCDS59438.1, CCDS59439.1, CCDS59440.1	2q32	2013-01-08			ENSG00000118263	ENSG00000118263		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6350	protein-coding gene	gene with protein product		604865				9774444	Standard	NM_003709		Approved	UKLF	uc010zix.2	O75840	OTTHUMG00000132935	ENST00000309446.6:c.407T>A	2.37:g.207988824A>T	ENSP00000309570:p.Leu136*		B2RB03|B7Z4F7|C9JF04|E7EWH1|L0R4P2|Q7Z3H8|Q96E51	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L136*	ENST00000309446.6	37	c.407	CCDS2373.1	2	.	.	.	.	.	.	.	.	.	.	A	39	7.805681	0.98498	.	.	ENSG00000118263	ENST00000309446;ENST00000421199;ENST00000423015;ENST00000412414;ENST00000435602	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	15.9266	0.79621	1.0:0.0:0.0:0.0	.	.	.	.	X	136;103;136;108;108	.	ENSP00000309570:L136X	L	-	2	0	KLF7	207697069	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.549000	0.82163	2.177000	0.69029	0.402000	0.26972	TTA	KLF7	-	NULL	ENSG00000118263		0.582	KLF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF7	HGNC	protein_coding	OTTHUMT00000256466.2	66	0.00	0	A	NM_003709		207988824	207988824	-1	no_errors	ENST00000309446	ensembl	human	known	69_37n	nonsense	43	10.42	5	SNP	1.000	T
TERF2IP	54386	genome.wustl.edu	37	16	75690204	75690206	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-EW-A1PG-01A-11D-A142-09	TCGA-EW-A1PG-10A-01D-A142-09	GAA	GAA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	bd3801e2-c5bb-4116-9ce3-97903fc6956e	01c3cc25-bb81-4cc3-a9aa-e07f44991c3f	g.chr16:75690204_75690206delGAA	ENST00000300086.4	+	3	992_994	c.895_897delGAA	c.(895-897)gaadel	p.E304del		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	304	Asp/Glu-rich (acidic).				negative regulation of DNA recombination at telomere (GO:0048239)|negative regulation of telomere maintenance (GO:0032205)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of transcription, DNA-templated (GO:0006355)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear chromosome (GO:0000228)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						TGATgaggaggaagaagaagaag	0.424																																						dbGAP											0										1,182,4081		0,0,1,0,182,1949						-3.9	1.0			71	0,377,7877		0,0,0,1,375,3751	no	codingComplex	TERF2IP	NM_018975.3		0,0,1,1,557,5700	A1A1,A1A2,A1R,A2A2,A2R,RR		4.5675,4.2917,4.4736				1,559,11958				-	-	-	SO:0001651	inframe_deletion	0			AK000669	CCDS32491.1	16q23.1	2012-10-03			ENSG00000166848	ENSG00000166848			19246	protein-coding gene	gene with protein product		605061				10850490	Standard	NM_018975		Approved	RAP1	uc002fet.2	Q9NYB0	OTTHUMG00000177136	ENST00000300086.4:c.895_897delGAA	16.37:g.75690213_75690215delGAA	ENSP00000300086:p.Glu304del		B4DQN4|Q4W4Y2|Q8WYZ3|Q9NWR2	In_Frame_Del	DEL	pfam_Rap1_Myb_dom,superfamily_Homeodomain-like,superfamily_BRCT_dom	p.E302in_frame_del	ENST00000300086.4	37	c.895_897	CCDS32491.1	16																																																																																			TERF2IP	-	NULL	ENSG00000166848		0.424	TERF2IP-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TERF2IP	HGNC	protein_coding	OTTHUMT00000435519.1	28	0.00	0	GAA	NM_018975		75690204	75690206	+1	no_errors	ENST00000300086	ensembl	human	putative	69_37n	in_frame_del	27	12.90	4	DEL	0.540:0.562:0.617	-
