#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
CBFB	865	genome.wustl.edu	37	16	67100613	67100613	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0EA-01A-11D-A10Y-09	TCGA-BH-A0EA-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	561b8777-801a-49ed-a306-e7dafeb044b6	cfbd5476-e83a-401d-9f9a-639c73a0e35b	g.chr16:67100613A>G	ENST00000290858.6	+	4	572	c.311A>G	c.(310-312)aAt>aGt	p.N104S	CBFB_ENST00000412916.2_Missense_Mutation_p.N104S|CBFB_ENST00000561924.2_Missense_Mutation_p.N4S	NM_001755.2|NM_022845.2	NP_001746.1|NP_074036.1	Q13951	PEBB_HUMAN	core-binding factor, beta subunit	104					cell maturation (GO:0048469)|definitive hemopoiesis (GO:0060216)|lymphocyte differentiation (GO:0030098)|myeloid cell differentiation (GO:0030099)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|large_intestine(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		ATGATTCTGAATGGAGTCTGT	0.398			T	MYH11	AML																																	dbGAP		Dom	yes		16	16q22	865	"""core-binding factor, beta subunit"""		L	0													157.0	140.0	146.0					16																	67100613		2200	4300	6500	-	-	-	SO:0001583	missense	0			BC018509	CCDS10827.1, CCDS45508.1	16q22.1	2008-02-05			ENSG00000067955	ENSG00000067955			1539	protein-coding gene	gene with protein product		121360				8351518, 7587111	Standard	NM_001755		Approved	PEBP2B	uc002erb.3	Q13951	OTTHUMG00000137520	ENST00000290858.6:c.311A>G	16.37:g.67100613A>G	ENSP00000290858:p.Asn104Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K347|Q13124|Q9HCT2	Missense_Mutation	SNP	pfam_CBF_beta,superfamily_CBF_beta	p.N104S	ENST00000290858.6	37	c.311	CCDS10827.1	16	.	.	.	.	.	.	.	.	.	.	A	15.32	2.797728	0.50208	.	.	ENSG00000067955	ENST00000290858;ENST00000412916	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.82351	0.5018	M	0.80616	2.505	0.80722	D	1	P;P	0.41366	0.747;0.678	P;D	0.63113	0.855;0.911	D	0.84284	0.0496	9	0.87932	D	0	-13.2658	14.5986	0.68424	1.0:0.0:0.0:0.0	.	104;104	Q13951-2;Q13951	.;PEBB_HUMAN	S	104	.	ENSP00000290858:N104S	N	+	2	0	CBFB	65658114	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.066000	0.93949	2.140000	0.66376	0.459000	0.35465	AAT	CBFB	-	pfam_CBF_beta,superfamily_CBF_beta	ENSG00000067955		0.398	CBFB-001	KNOWN	basic|CCDS	protein_coding	CBFB	HGNC	protein_coding	OTTHUMT00000268843.2	692	0.00	0	A	NM_001755		67100613	67100613	+1	no_errors	ENST00000290858	ensembl	human	known	69_37n	missense	206	31.56	95	SNP	1.000	G
CD93	22918	genome.wustl.edu	37	20	23066476	23066476	+	Silent	SNP	G	G	A			TCGA-BH-A0EA-01A-11D-A10Y-09	TCGA-BH-A0EA-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	561b8777-801a-49ed-a306-e7dafeb044b6	cfbd5476-e83a-401d-9f9a-639c73a0e35b	g.chr20:23066476G>A	ENST00000246006.4	-	1	501	c.354C>T	c.(352-354)ggC>ggT	p.G118G		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	118	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCTCCCCCCCGCCCACCCAGC	0.632																																						dbGAP											0													13.0	14.0	14.0					20																	23066476		2199	4278	6477	-	-	-	SO:0001819	synonymous_variant	0			U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.354C>T	20.37:g.23066476G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O00274	Silent	SNP	pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_CD93/CD141,pfscan_EG-like_dom,pfscan_C-type_lectin	p.G118	ENST00000246006.4	37	c.354	CCDS13149.1	20																																																																																			CD93	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pirsf_CD93/CD141,pfscan_C-type_lectin	ENSG00000125810		0.632	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CD93	HGNC	protein_coding	OTTHUMT00000078312.2	53	0.00	0	G	NM_012072		23066476	23066476	-1	no_errors	ENST00000246006	ensembl	human	known	69_37n	silent	27	12.90	4	SNP	0.557	A
CLEC4C	170482	genome.wustl.edu	37	12	7890152	7890152	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0EA-01A-11D-A10Y-09	TCGA-BH-A0EA-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	561b8777-801a-49ed-a306-e7dafeb044b6	cfbd5476-e83a-401d-9f9a-639c73a0e35b	g.chr12:7890152G>T	ENST00000542353.1	-	5	744	c.254C>A	c.(253-255)aCc>aAc	p.T85N	CLEC4C_ENST00000354629.5_Missense_Mutation_p.T54N|CLEC4C_ENST00000360345.3_Missense_Mutation_p.T85N|CLEC4C_ENST00000540085.1_Missense_Mutation_p.T54N	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	85					innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		AGTCCAAGGGGTTGGGCAGCA	0.398																																						dbGAP											0													75.0	77.0	76.0					12																	7890152		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF325460	CCDS8583.1, CCDS8584.1	12p13.2-p12.3	2008-02-05	2004-02-13	2005-02-11	ENSG00000198178	ENSG00000198178		"""C-type lectin domain containing"", ""CD molecules"""	13258	protein-coding gene	gene with protein product		606677	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7"""	CLECSF11, CLECSF7		11031109, 11536172	Standard	NM_130441		Approved	HECL, DLEC, BDCA2, CD303	uc001qth.1	Q8WTT0	OTTHUMG00000168441	ENST00000542353.1:c.254C>A	12.37:g.7890152G>T	ENSP00000440428:p.Thr85Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUU3|Q3T1C3|Q6UXS8|Q8WXX8	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.T85N	ENST00000542353.1	37	c.254	CCDS8583.1	12	.	.	.	.	.	.	.	.	.	.	G	1.731	-0.494144	0.04322	.	.	ENSG00000198178	ENST00000542353;ENST00000354629;ENST00000540085;ENST00000360345;ENST00000537530;ENST00000543765	T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33	2.62	-4.57	0.03421	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	.	.	.	.	T	0.06188	0.0160	N	0.00926	-1.1	0.09310	N	1	B;D	0.54047	0.05;0.964	B;P	0.46940	0.031;0.532	T	0.33675	-0.9859	9	0.23891	T	0.37	.	10.9309	0.47217	0.0:0.0:0.7091:0.2909	.	54;85	Q8WTT0-2;Q8WTT0	.;CLC4C_HUMAN	N	85;54;54;85;7;45	ENSP00000440428:T85N;ENSP00000346648:T54N;ENSP00000445338:T54N;ENSP00000353500:T85N;ENSP00000438649:T7N;ENSP00000442457:T45N	ENSP00000346648:T54N	T	-	2	0	CLEC4C	7781419	0.000000	0.05858	0.001000	0.08648	0.047000	0.14425	-2.898000	0.00705	-0.906000	0.03866	-0.248000	0.11899	ACC	CLEC4C	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII	ENSG00000198178		0.398	CLEC4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC4C	HGNC	protein_coding	OTTHUMT00000399750.1	108	0.00	0	G	NM_203503		7890152	7890152	-1	no_errors	ENST00000360345	ensembl	human	known	69_37n	missense	54	22.86	16	SNP	0.001	T
CLEC4A	50856	genome.wustl.edu	37	12	8290866	8290866	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0EA-01A-11D-A10Y-09	TCGA-BH-A0EA-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	561b8777-801a-49ed-a306-e7dafeb044b6	cfbd5476-e83a-401d-9f9a-639c73a0e35b	g.chr12:8290866A>T	ENST00000229332.5	+	6	944	c.697A>T	c.(697-699)Atg>Ttg	p.M233L	CLEC4A_ENST00000352620.3_Missense_Mutation_p.M200L|CLEC4A_ENST00000360500.3_Missense_Mutation_p.M194L|CLEC4A_ENST00000345999.3_Missense_Mutation_p.M161L	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	233					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		TTGTGAGATGATGAAGATCCA	0.398																																						dbGAP											0													240.0	212.0	221.0					12																	8290866		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ133532	CCDS8590.1, CCDS8591.1, CCDS8592.1, CCDS41745.1	12p13	2005-02-09	2005-02-09	2005-02-09	ENSG00000111729	ENSG00000111729		"""C-type lectin domain containing"""	13257	protein-coding gene	gene with protein product		605306	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 6"""	CLECSF6		10438934	Standard	NM_016184		Approved	DCIR, DDB27	uc001qtz.1	Q9UMR7	OTTHUMG00000168571	ENST00000229332.5:c.697A>T	12.37:g.8290866A>T	ENSP00000229332:p.Met233Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17R69|Q8WXW9|Q9H2Z9|Q9NS33|Q9UI34	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.M233L	ENST00000229332.5	37	c.697	CCDS8590.1	12	.	.	.	.	.	.	.	.	.	.	A	13.70	2.316204	0.40996	.	.	ENSG00000111729	ENST00000229332;ENST00000345999;ENST00000352620;ENST00000360500	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	4.12	-1.23	0.09465	C-type lectin-like (1);	0.978187	0.08326	N	0.963088	T	0.17280	0.0415	L	0.51422	1.61	0.43480	D	0.995707	P;P;P;P	0.44877	0.73;0.845;0.845;0.61	B;P;P;B	0.47376	0.312;0.545;0.545;0.165	T	0.45600	-0.9250	10	0.48119	T	0.1	.	0.5039	0.00584	0.4416:0.1806:0.2032:0.1746	.	194;161;200;233	Q9UMR7-3;Q9UMR7-4;Q9UMR7-2;Q9UMR7	.;.;.;CLC4A_HUMAN	L	233;161;200;194	ENSP00000229332:M233L;ENSP00000344646:M161L;ENSP00000247243:M200L;ENSP00000353690:M194L	ENSP00000229332:M233L	M	+	1	0	CLEC4A	8182133	0.151000	0.22747	0.134000	0.22075	0.880000	0.50808	0.197000	0.17197	-0.203000	0.10251	0.477000	0.44152	ATG	CLEC4A	-	NULL	ENSG00000111729		0.398	CLEC4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC4A	HGNC	protein_coding	OTTHUMT00000400257.1	463	0.00	0	A	NM_194450		8290866	8290866	+1	no_errors	ENST00000229332	ensembl	human	known	69_37n	missense	186	29.28	77	SNP	0.169	T
COL14A1	7373	genome.wustl.edu	37	8	121238949	121238949	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0EA-01A-11D-A10Y-09	TCGA-BH-A0EA-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	561b8777-801a-49ed-a306-e7dafeb044b6	cfbd5476-e83a-401d-9f9a-639c73a0e35b	g.chr8:121238949G>A	ENST00000297848.3	+	16	2218	c.1948G>A	c.(1948-1950)Gat>Aat	p.D650N	COL14A1_ENST00000247781.3_Missense_Mutation_p.D555N|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.D650N	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CCTCTCAGCTGATGAAGGGCT	0.463																																						dbGAP											0													95.0	86.0	89.0					8																	121238949		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1948G>A	8.37:g.121238949G>A	ENSP00000297848:p.Asp650Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.D650N	ENST00000297848.3	37	c.1948	CCDS34938.1	8	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315518	0.81469	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.63	5.63	0.86233	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.105314	0.64402	D	0.000006	T	0.64560	0.2609	M	0.62723	1.935	0.80722	D	1	D;P	0.56287	0.975;0.645	P;B	0.54706	0.759;0.41	T	0.60177	-0.7314	10	0.30854	T	0.27	.	18.4509	0.90703	0.0:0.0:1.0:0.0	.	650;650	Q05707-2;Q05707	.;COEA1_HUMAN	N	650;650;555;463	ENSP00000311809:D650N;ENSP00000297848:D650N;ENSP00000247781:D555N;ENSP00000409461:D463N	ENSP00000247781:D555N	D	+	1	0	COL14A1	121308130	1.000000	0.71417	0.382000	0.26119	0.695000	0.40330	7.492000	0.81482	2.652000	0.90054	0.557000	0.71058	GAT	COL14A1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000187955		0.463	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL14A1	HGNC	protein_coding	OTTHUMT00000313657.2	314	0.00	0	G	NM_021110		121238949	121238949	+1	no_errors	ENST00000297848	ensembl	human	known	69_37n	missense	135	17.68	29	SNP	0.968	A
CXorf65	158830	genome.wustl.edu	37	X	70324091	70324091	+	Intron	SNP	C	C	T			TCGA-BH-A0EA-01A-11D-A10Y-09	TCGA-BH-A0EA-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	561b8777-801a-49ed-a306-e7dafeb044b6	cfbd5476-e83a-401d-9f9a-639c73a0e35b	g.chrX:70324091C>T	ENST00000374251.5	-	5	475					NM_001025265.2	NP_001020436.1	A6NEN9	CX065_HUMAN	chromosome X open reading frame 65											breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						TAGGAACATTCAGTCGGCTGG	0.537																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC144434	CCDS35324.1	Xq13.1	2009-03-06			ENSG00000204165	ENSG00000204165			33713	protein-coding gene	gene with protein product							Standard	NM_001025265		Approved		uc011mpo.2	A6NEN9	OTTHUMG00000021785	ENST00000374251.5:c.426+56G>A	X.37:g.70324091C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.L161	ENST00000374251.5	37	c.483	CCDS35324.1	X																																																																																			CXorf65	-	NULL	ENSG00000204165		0.537	CXorf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf65	HGNC	protein_coding	OTTHUMT00000057089.2	130	0.00	0	C	NM_001025265		70324091	70324091	-1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000438526	ensembl	human	known	69_37n	silent	48	41.46	34	SNP	0.001	T
EIF2AK1	27102	genome.wustl.edu	37	7	6085747	6085747	+	Silent	SNP	T	T	A			TCGA-BH-A0EA-01A-11D-A10Y-09	TCGA-BH-A0EA-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	561b8777-801a-49ed-a306-e7dafeb044b6	cfbd5476-e83a-401d-9f9a-639c73a0e35b	g.chr7:6085747T>A	ENST00000199389.6	-	6	731	c.585A>T	c.(583-585)atA>atT	p.I195I	EIF2AK1_ENST00000536084.1_Silent_p.I71I|EIF2AK1_ENST00000495565.1_5'UTR|RN7SL851P_ENST00000480512.2_RNA	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	195	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		GGATTTTTTTTATTGCATAAT	0.259																																						dbGAP											0													80.0	80.0	80.0					7																	6085747		2199	4297	6496	-	-	-	SO:0001819	synonymous_variant	0			BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"""heme regulated initiation factor 2 alpha kinase"""	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.585A>T	7.37:g.6085747T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.I195	ENST00000199389.6	37	c.585	CCDS5345.1	7																																																																																			EIF2AK1	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000086232		0.259	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK1	HGNC	protein_coding	OTTHUMT00000207373.2	312	0.00	0	T	NM_014413		6085747	6085747	-1	no_errors	ENST00000199389	ensembl	human	known	69_37n	silent	154	27.36	58	SNP	0.999	A
GATA3	2625	genome.wustl.edu	37	10	8111433	8111434	+	Splice_Site	DEL	CA	CA	-	rs111853237		TCGA-BH-A0EA-01A-11D-A10Y-09	TCGA-BH-A0EA-10A-01D-A110-09	CA	CA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	561b8777-801a-49ed-a306-e7dafeb044b6	cfbd5476-e83a-401d-9f9a-639c73a0e35b	g.chr10:8111433_8111434delCA	ENST00000346208.3	+	5	1376		c.e5-1		GATA3_ENST00000379328.3_Splice_Site|GATA3_ENST00000461472.1_Splice_Site			P23771	GATA3_HUMAN	GATA binding protein 3						anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|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 of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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 core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.?(7)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TCCCCACTCTCAGTCTGCAGCC	0.48			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	7	Unknown(7)	breast(7)																																								-	-	-	SO:0001630	splice_region_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.922-1CA>-	10.37:g.8111433_8111434delCA		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWG7|Q5VWG8|Q96J16	Splice_Site	DEL	-	e4-2	ENST00000346208.3	37	c.925-3_925-2	CCDS7083.1	10																																																																																			GATA3	-	-	ENSG00000107485		0.480	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	246	0	0	CA	NM_001002295	Intron	8111433	8111434	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	splice_site_del	107	17.56	23	DEL	1.000:1.000	-
PDZD2	23037	genome.wustl.edu	37	5	31799548	31799548	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0EA-01A-11D-A10Y-09	TCGA-BH-A0EA-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	561b8777-801a-49ed-a306-e7dafeb044b6	cfbd5476-e83a-401d-9f9a-639c73a0e35b	g.chr5:31799548G>A	ENST00000438447.1	+	2	581	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	PDZD2_ENST00000282493.3_Missense_Mutation_p.E65K			O15018	PDZD2_HUMAN	PDZ domain containing 2	65					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						CAGCCCCCCCGAAATGGAGAT	0.572																																						dbGAP											0													112.0	110.0	111.0					5																	31799548		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.193G>A	5.37:g.31799548G>A	ENSP00000402033:p.Glu65Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BXD4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E65K	ENST00000438447.1	37	c.193	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	G	14.37	2.515034	0.44763	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.65549	-0.16;-0.16	5.67	5.67	0.87782	PDZ/DHR/GLGF (1);	0.474474	0.17669	N	0.166059	T	0.42471	0.1204	N	0.14661	0.345	0.41755	D	0.989683	P	0.48640	0.913	B	0.36378	0.223	T	0.41627	-0.9498	10	0.15499	T	0.54	.	17.2551	0.87053	0.0:0.0:1.0:0.0	.	65	O15018	PDZD2_HUMAN	K	65	ENSP00000402033:E65K;ENSP00000282493:E65K	ENSP00000282493:E65K	E	+	1	0	PDZD2	31835305	1.000000	0.71417	0.034000	0.17996	0.211000	0.24417	9.055000	0.93873	2.661000	0.90470	0.655000	0.94253	GAA	PDZD2	-	superfamily_PDZ	ENSG00000133401		0.572	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	200	0.00	0	G			31799548	31799548	+1	no_errors	ENST00000282493	ensembl	human	known	69_37n	missense	100	20.00	25	SNP	0.856	A
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-BH-A0EA-01A-11D-A10Y-09	TCGA-BH-A0EA-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	561b8777-801a-49ed-a306-e7dafeb044b6	cfbd5476-e83a-401d-9f9a-639c73a0e35b	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	224	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	87	29.27	36	SNP	1.000	G
PRKDC	5591	genome.wustl.edu	37	8	48839867	48839867	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0EA-01A-11D-A10Y-09	TCGA-BH-A0EA-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	561b8777-801a-49ed-a306-e7dafeb044b6	cfbd5476-e83a-401d-9f9a-639c73a0e35b	g.chr8:48839867C>T	ENST00000314191.2	-	21	2362	c.2306G>A	c.(2305-2307)gGc>gAc	p.G769D	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.G769D	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	769					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AGCATTCAGGCCTACTTCTGC	0.403								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	dbGAP											0													86.0	78.0	81.0					8																	48839867		1870	4099	5969	-	-	-	SO:0001583	missense	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.2306G>A	8.37:g.48839867C>T	ENSP00000313420:p.Gly769Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.G769D	ENST00000314191.2	37	c.2306		8	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952347	0.73787	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.68479	4.13;-0.33	5.7	5.7	0.88788	Armadillo-type fold (1);	0.068230	0.64402	D	0.000013	T	0.81128	0.4758	.	.	.	0.50313	D	0.999861	D;D;D	0.67145	0.995;0.996;0.996	D;D;D	0.64595	0.911;0.927;0.927	T	0.83140	-0.0109	9	0.87932	D	0	.	16.1037	0.81205	0.0:0.8663:0.1337:0.0	.	769;769;769	P78527-2;E7EUY0;P78527	.;.;PRKDC_HUMAN	D	769	ENSP00000313420:G769D;ENSP00000345182:G769D	ENSP00000313420:G769D	G	-	2	0	PRKDC	49002420	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	2.962000	0.49176	2.689000	0.91719	0.462000	0.41574	GGC	PRKDC	-	superfamily_ARM-type_fold	ENSG00000253729		0.403	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		290	0.00	0	C	NM_001081640		48839867	48839867	-1	no_errors	ENST00000314191	ensembl	human	known	69_37n	missense	138	20.23	35	SNP	1.000	T
PTPN4	5775	genome.wustl.edu	37	2	120725478	120725478	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0EA-01A-11D-A10Y-09	TCGA-BH-A0EA-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	561b8777-801a-49ed-a306-e7dafeb044b6	cfbd5476-e83a-401d-9f9a-639c73a0e35b	g.chr2:120725478A>G	ENST00000263708.2	+	26	3395	c.2624A>G	c.(2623-2625)aAt>aGt	p.N875S	PTPN4_ENST00000544261.1_Missense_Mutation_p.N508S	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	875	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	ATTGAATGCAATCAGCCAGTT	0.383																																						dbGAP											0													165.0	164.0	164.0					2																	120725478		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.2624A>G	2.37:g.120725478A>G	ENSP00000263708:p.Asn875Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBV8|Q9UDA7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin	p.N875S	ENST00000263708.2	37	c.2624	CCDS2129.1	2	.	.	.	.	.	.	.	.	.	.	A	13.24	2.178453	0.38511	.	.	ENSG00000088179	ENST00000263708;ENST00000544261	D;D	0.83335	-1.71;-1.71	5.2	4.06	0.47325	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.200610	0.52532	D	0.000062	T	0.71779	0.3380	N	0.26092	0.79	0.44380	D	0.997284	B	0.02656	0.0	B	0.01281	0.0	T	0.68697	-0.5340	10	0.45353	T	0.12	.	10.3602	0.43989	0.9229:0.0:0.0771:0.0	.	875	P29074	PTN4_HUMAN	S	875;508	ENSP00000263708:N875S;ENSP00000445841:N508S	ENSP00000263708:N875S	N	+	2	0	PTPN4	120441948	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.044000	0.64214	1.965000	0.57142	0.477000	0.44152	AAT	PTPN4	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000088179		0.383	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN4	HGNC	protein_coding	OTTHUMT00000254233.2	354	0.00	0	A			120725478	120725478	+1	no_errors	ENST00000263708	ensembl	human	known	69_37n	missense	118	16.31	23	SNP	1.000	G
PTPRU	10076	genome.wustl.edu	37	1	29630376	29630376	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0EA-01A-11D-A10Y-09	TCGA-BH-A0EA-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	561b8777-801a-49ed-a306-e7dafeb044b6	cfbd5476-e83a-401d-9f9a-639c73a0e35b	g.chr1:29630376G>A	ENST00000345512.3	+	17	2645	c.2516G>A	c.(2515-2517)cGc>cAc	p.R839H	PTPRU_ENST00000460170.2_Missense_Mutation_p.R829H|PTPRU_ENST00000428026.2_Missense_Mutation_p.R829H|PTPRU_ENST00000356870.3_Missense_Mutation_p.R829H|PTPRU_ENST00000323874.8_Missense_Mutation_p.R829H|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000373779.3_Missense_Mutation_p.R829H	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	839	Mediates interaction with CTNNB1. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GGAGACCAGCGCAGCGGTGGG	0.672																																						dbGAP											0													39.0	43.0	42.0					1																	29630376		2202	4288	6490	-	-	-	SO:0001583	missense	0			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.2516G>A	1.37:g.29630376G>A	ENSP00000334941:p.Arg839His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.R839H	ENST00000345512.3	37	c.2516	CCDS334.1	1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723719	0.30593	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.32515	1.47;1.51;1.51;1.51;1.45;1.51	4.12	3.2	0.36748	.	0.138730	0.49916	N	0.000123	T	0.20373	0.0490	L	0.40543	1.245	0.43377	D	0.995473	B;B;B;B;B	0.29955	0.263;0.263;0.263;0.018;0.171	B;B;B;B;B	0.23419	0.046;0.046;0.046;0.007;0.021	T	0.05007	-1.0912	9	.	.	.	.	7.776	0.29037	0.0901:0.1647:0.7452:0.0	.	829;829;829;829;839	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	H	839;829;829;829;829;829	ENSP00000334941:R839H;ENSP00000362884:R829H;ENSP00000349333:R829H;ENSP00000314987:R829H;ENSP00000392332:R829H;ENSP00000432906:R829H	.	R	+	2	0	PTPRU	29502963	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	4.208000	0.58486	1.314000	0.45095	0.555000	0.69702	CGC	PTPRU	-	NULL	ENSG00000060656		0.672	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRU	HGNC	protein_coding	OTTHUMT00000010447.1	87	0.00	0	G			29630376	29630376	+1	no_errors	ENST00000345512	ensembl	human	known	69_37n	missense	45	29.69	19	SNP	1.000	A
RABEP2	79874	genome.wustl.edu	37	16	28935782	28935782	+	Silent	SNP	C	C	T			TCGA-BH-A0EA-01A-11D-A10Y-09	TCGA-BH-A0EA-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	561b8777-801a-49ed-a306-e7dafeb044b6	cfbd5476-e83a-401d-9f9a-639c73a0e35b	g.chr16:28935782C>T	ENST00000358201.4	-	2	804	c.216G>A	c.(214-216)gtG>gtA	p.V72V	RABEP2_ENST00000561803.1_5'UTR|RABEP2_ENST00000544477.1_Intron|RABEP2_ENST00000357573.6_Silent_p.V72V	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	72					endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						GCACCGCAGCCACAGCCTCGG	0.642																																					Pancreas(66;639 1284 10093 31061 49099)	dbGAP											0													55.0	59.0	57.0					16																	28935782		2118	4253	6371	-	-	-	SO:0001819	synonymous_variant	0			AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.216G>A	16.37:g.28935782C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin	p.V72	ENST00000358201.4	37	c.216	CCDS42140.1	16																																																																																			RABEP2	-	pfam_Rabaptin_coiled-coil	ENSG00000177548		0.642	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RABEP2	HGNC	protein_coding	OTTHUMT00000432691.1	63	0.00	0	C	NM_024816		28935782	28935782	-1	no_errors	ENST00000358201	ensembl	human	known	69_37n	silent	27	22.86	8	SNP	1.000	T
RTTN	25914	genome.wustl.edu	37	18	67727270	67727270	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BH-A0EA-01A-11D-A10Y-09	TCGA-BH-A0EA-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	561b8777-801a-49ed-a306-e7dafeb044b6	cfbd5476-e83a-401d-9f9a-639c73a0e35b	g.chr18:67727270C>A	ENST00000255674.6	-	36	5042	c.4756G>T	c.(4756-4758)Gaa>Taa	p.E1586*	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1586					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GATGTACTTTCCTGGTGACCT	0.368																																						dbGAP											0													110.0	114.0	112.0					18																	67727270		1944	4126	6070	-	-	-	SO:0001587	stop_gained	0			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.4756G>T	18.37:g.67727270C>A	ENSP00000255674:p.Glu1586*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.E1586*	ENST00000255674.6	37	c.4756	CCDS42443.1	18	.	.	.	.	.	.	.	.	.	.	C	45	12.004582	0.99626	.	.	ENSG00000176225	ENST00000255674	.	.	.	5.66	5.66	0.87406	.	0.527892	0.22147	N	0.063962	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	16.6702	0.85264	0.0:1.0:0.0:0.0	.	.	.	.	X	1586	.	ENSP00000255674:E1586X	E	-	1	0	RTTN	65878250	0.324000	0.24652	0.031000	0.17742	0.622000	0.37654	3.493000	0.53266	2.673000	0.90976	0.650000	0.86243	GAA	RTTN	-	NULL	ENSG00000176225		0.368	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTTN	HGNC	protein_coding	OTTHUMT00000442988.1	475	0.00	0	C	NM_173630		67727270	67727270	-1	no_errors	ENST00000255674	ensembl	human	known	69_37n	nonsense	180	25.62	62	SNP	0.286	A
SDK2	54549	genome.wustl.edu	37	17	71394498	71394498	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0EA-01A-11D-A10Y-09	TCGA-BH-A0EA-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	561b8777-801a-49ed-a306-e7dafeb044b6	cfbd5476-e83a-401d-9f9a-639c73a0e35b	g.chr17:71394498G>A	ENST00000392650.3	-	23	3164	c.3164C>T	c.(3163-3165)tCc>tTc	p.S1055F	SDK2_ENST00000388726.3_Missense_Mutation_p.S1055F	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1055	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CACCTCCATGGAGCGGGCATC	0.632																																						dbGAP											0													96.0	92.0	93.0					17																	71394498		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.3164C>T	17.37:g.71394498G>A	ENSP00000376421:p.Ser1055Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S1055F	ENST00000392650.3	37	c.3164	CCDS45769.1	17	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372424	0.82573	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.60299	0.2;0.2;0.2	4.55	4.55	0.56014	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.210424	0.42964	D	0.000626	T	0.76083	0.3938	M	0.77486	2.375	0.80722	D	1	D;P;P	0.55172	0.97;0.951;0.94	D;D;D	0.67548	0.921;0.952;0.921	T	0.80108	-0.1520	10	0.72032	D	0.01	.	17.4893	0.87699	0.0:0.0:1.0:0.0	.	1055;1055;1055	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	F	679;1055;1055;231;1055	ENSP00000376421:S1055F;ENSP00000373378:S1055F;ENSP00000407098:S231F	ENSP00000324967:S1055F	S	-	2	0	SDK2	68906093	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	5.479000	0.66813	2.361000	0.80049	0.462000	0.41574	TCC	SDK2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000069188		0.632	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	HGNC	protein_coding	OTTHUMT00000327598.2	181	0.00	0	G	NM_019064		71394498	71394498	-1	no_errors	ENST00000392650	ensembl	human	known	69_37n	missense	58	33.33	29	SNP	1.000	A
TC2N	123036	genome.wustl.edu	37	14	92278710	92278710	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0EA-01A-11D-A10Y-09	TCGA-BH-A0EA-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	561b8777-801a-49ed-a306-e7dafeb044b6	cfbd5476-e83a-401d-9f9a-639c73a0e35b	g.chr14:92278710A>G	ENST00000435962.2	-	3	570	c.247T>C	c.(247-249)Tct>Cct	p.S83P	TC2N_ENST00000556018.1_Missense_Mutation_p.S83P|TC2N_ENST00000360594.5_Missense_Mutation_p.S83P|TC2N_ENST00000340892.5_Missense_Mutation_p.S83P	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	83					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		TGAATGTAAGATAACTTAAAC	0.363																																						dbGAP											0													122.0	109.0	113.0					14																	92278710		2203	4300	6503	-	-	-	SO:0001583	missense	0			AA243837	CCDS9897.1, CCDS73679.1	14q32.12	2007-10-17	2007-08-17	2007-08-17		ENSG00000165929			19859	protein-coding gene	gene with protein product	"""C2 calcium-dependent domain containing 1"""		"""chromosome 14 open reading frame 47"", ""membrane targeting (tandem) C2 domain containing 1"""	C14orf47, MTAC2D1		11526914	Standard	NM_001128596		Approved	FLJ36557, Tac2-N, C2CD1	uc001xzt.4	Q8N9U0		ENST00000435962.2:c.247T>C	14.37:g.92278710A>G	ENSP00000387882:p.Ser83Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.S83P	ENST00000435962.2	37	c.247	CCDS9897.1	14	.	.	.	.	.	.	.	.	.	.	A	18.57	3.653019	0.67472	.	.	ENSG00000165929	ENST00000435962;ENST00000340892;ENST00000360594;ENST00000556018	T;T;T;T	0.19105	3.12;3.12;3.12;2.17	5.4	4.19	0.49359	.	0.158905	0.64402	D	0.000020	T	0.35624	0.0938	L	0.59436	1.845	0.48762	D	0.999702	D;P	0.61080	0.989;0.747	P;B	0.58266	0.836;0.373	T	0.12785	-1.0534	10	0.72032	D	0.01	-15.7277	11.7144	0.51643	0.7654:0.2346:0.0:0.0	.	83;83	Q8N9U0-2;Q8N9U0	.;TAC2N_HUMAN	P	83	ENSP00000387882:S83P;ENSP00000343199:S83P;ENSP00000353802:S83P;ENSP00000451317:S83P	ENSP00000343199:S83P	S	-	1	0	TC2N	91348463	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.085000	0.41634	2.057000	0.61298	0.533000	0.62120	TCT	TC2N	-	NULL	ENSG00000165929		0.363	TC2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TC2N	HGNC	protein_coding	OTTHUMT00000411778.1	451	0.00	0	A	NM_152332		92278710	92278710	-1	no_errors	ENST00000340892	ensembl	human	known	69_37n	missense	178	19.82	44	SNP	1.000	G
TSHZ3	57616	genome.wustl.edu	37	19	31767562	31767562	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0EA-01A-11D-A10Y-09	TCGA-BH-A0EA-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	561b8777-801a-49ed-a306-e7dafeb044b6	cfbd5476-e83a-401d-9f9a-639c73a0e35b	g.chr19:31767562C>T	ENST00000240587.4	-	2	3464	c.3137G>A	c.(3136-3138)tGc>tAc	p.C1046Y		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	1046					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGTCCGATTGCAAAGTTTGCA	0.483																																						dbGAP											0													153.0	135.0	141.0					19																	31767562		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.3137G>A	19.37:g.31767562C>T	ENSP00000240587:p.Cys1046Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H0G6|Q9P254	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.C1046Y	ENST00000240587.4	37	c.3137	CCDS12421.2	19	.	.	.	.	.	.	.	.	.	.	C	17.49	3.402168	0.62288	.	.	ENSG00000121297	ENST00000240587	T	0.39592	1.07	5.93	5.93	0.95920	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.68732	0.3033	M	0.78801	2.425	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.70197	-0.4938	10	0.87932	D	0	-22.9884	20.3507	0.98813	0.0:1.0:0.0:0.0	.	1046	Q63HK5	TSH3_HUMAN	Y	1046	ENSP00000240587:C1046Y	ENSP00000240587:C1046Y	C	-	2	0	TSHZ3	36459402	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.461000	0.80834	2.808000	0.96608	0.655000	0.94253	TGC	TSHZ3	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000121297		0.483	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ3	HGNC	protein_coding	OTTHUMT00000316743.2	526	0.00	0	C	NM_020856		31767562	31767562	-1	no_errors	ENST00000240587	ensembl	human	known	69_37n	missense	273	20.18	69	SNP	1.000	T
TXNDC15	79770	genome.wustl.edu	37	5	134210139	134210139	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0EA-01A-11D-A10Y-09	TCGA-BH-A0EA-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	561b8777-801a-49ed-a306-e7dafeb044b6	cfbd5476-e83a-401d-9f9a-639c73a0e35b	g.chr5:134210139C>T	ENST00000358387.4	+	1	647	c.22C>T	c.(22-24)Cga>Tga	p.R8*	TXNDC15_ENST00000546290.1_5'Flank	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	8					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGCCGGTCGACGACCGCCCCG	0.716																																						dbGAP											0													38.0	43.0	41.0					5																	134210139		2202	4298	6500	-	-	-	SO:0001587	stop_gained	0			AK026278	CCDS4180.1	5q31.1	2008-02-05	2007-08-16	2007-08-16	ENSG00000113621	ENSG00000113621			20652	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 14"""	C5orf14			Standard	NM_024715		Approved	2310047H23Rik, FLJ22625	uc003lac.1	Q96J42	OTTHUMG00000129115	ENST00000358387.4:c.22C>T	5.37:g.134210139C>T	ENSP00000351157:p.Arg8*	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQA9|Q96MT2|Q9H639	Nonsense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.R8*	ENST00000358387.4	37	c.22	CCDS4180.1	5	.	.	.	.	.	.	.	.	.	.	C	16.84	3.235041	0.58886	.	.	ENSG00000113621	ENST00000441965;ENST00000358387;ENST00000506916	.	.	.	1.29	1.29	0.21616	.	7.429810	0.00649	N	0.000545	.	.	.	.	.	.	0.21147	N	0.999775	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	6.3351	0.21292	0.0:1.0:0.0:0.0	.	.	.	.	X	8	.	ENSP00000351157:R8X	R	+	1	2	TXNDC15	134238038	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-2.381000	0.01065	0.556000	0.29098	0.563000	0.77884	CGA	TXNDC15	-	NULL	ENSG00000113621		0.716	TXNDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNDC15	HGNC	protein_coding	OTTHUMT00000251160.1	104	0.00	0	C	NM_024715		134210139	134210139	+1	no_errors	ENST00000358387	ensembl	human	known	69_37n	nonsense	64	17.95	14	SNP	0.001	T
XPO5	57510	genome.wustl.edu	37	6	43538686	43538686	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0EA-01A-11D-A10Y-09	TCGA-BH-A0EA-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	561b8777-801a-49ed-a306-e7dafeb044b6	cfbd5476-e83a-401d-9f9a-639c73a0e35b	g.chr6:43538686G>C	ENST00000265351.7	-	4	556	c.346C>G	c.(346-348)Ctg>Gtg	p.L116V		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	116					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			ATTCGAGACAGAGCATCTTTA	0.403																																						dbGAP											0													154.0	151.0	152.0					6																	43538686		1900	4127	6027	-	-	-	SO:0001583	missense	0			AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.346C>G	6.37:g.43538686G>C	ENSP00000265351:p.Leu116Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold,smart_Importin-beta_N	p.L116V	ENST00000265351.7	37	c.346	CCDS47430.1	6	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306059	0.60305	.	.	ENSG00000124571	ENST00000265351	T	0.57107	0.42	5.78	0.199	0.15175	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.37320	0.0999	M	0.66297	2.02	0.47819	D	0.999528	P	0.47762	0.9	P	0.49799	0.622	T	0.21314	-1.0249	10	0.31617	T	0.26	-10.8542	5.8712	0.18805	0.4079:0.0:0.4698:0.1223	.	116	Q9HAV4	XPO5_HUMAN	V	116	ENSP00000265351:L116V	ENSP00000265351:L116V	L	-	1	2	XPO5	43646664	0.995000	0.38212	0.937000	0.37676	0.854000	0.48673	2.060000	0.41394	0.139000	0.18822	-0.136000	0.14681	CTG	XPO5	-	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	ENSG00000124571		0.403	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO5	HGNC	protein_coding	OTTHUMT00000040657.2	315	0.00	0	G	NM_020750		43538686	43538686	-1	no_errors	ENST00000265351	ensembl	human	known	69_37n	missense	126	15.44	23	SNP	0.508	C
ZNF425	155054	genome.wustl.edu	37	7	148801590	148801590	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0EA-01A-11D-A10Y-09	TCGA-BH-A0EA-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	561b8777-801a-49ed-a306-e7dafeb044b6	cfbd5476-e83a-401d-9f9a-639c73a0e35b	g.chr7:148801590C>T	ENST00000378061.2	-	4	1505	c.1373G>A	c.(1372-1374)cGc>cAc	p.R458H		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	458					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTGGTGGGCGCGCATGGCGTT	0.662																																						dbGAP											0													33.0	34.0	34.0					7																	148801590		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1373G>A	7.37:g.148801590C>T	ENSP00000367300:p.Arg458His	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPM1|Q08AG3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.R458H	ENST00000378061.2	37	c.1373	CCDS34773.1	7	.	.	.	.	.	.	.	.	.	.	C	16.26	3.074419	0.55646	.	.	ENSG00000204947	ENST00000378061	T	0.22539	1.95	3.17	-6.34	0.01982	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11024	0.0269	L	0.37561	1.115	0.09310	N	1	B	0.27351	0.176	B	0.11329	0.006	T	0.20405	-1.0276	9	0.26408	T	0.33	.	5.1618	0.15066	0.1361:0.38:0.0:0.4839	.	458	Q6IV72	ZN425_HUMAN	H	458	ENSP00000367300:R458H	ENSP00000367300:R458H	R	-	2	0	ZNF425	148432523	0.000000	0.05858	0.002000	0.10522	0.811000	0.45836	-4.669000	0.00201	-1.605000	0.01593	-0.768000	0.03414	CGC	ZNF425	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000204947		0.662	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF425	HGNC	protein_coding	OTTHUMT00000352726.1	29	0.00	0	C	XM_088140		148801590	148801590	-1	no_errors	ENST00000378061	ensembl	human	known	69_37n	missense	14	46.15	12	SNP	0.000	T
