#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
ADHFE1	137872	genome.wustl.edu	37	8	67356944	67356944	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1EU-01A-11D-A135-09	TCGA-BH-A1EU-11A-23D-A135-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc578e75-e63c-4bdf-abfa-e2d063c9cd6d	ee19abe7-fde7-4c3f-812d-2b9b8a9c4a45	g.chr8:67356944C>T	ENST00000396623.3	+	5	345	c.314C>T	c.(313-315)aCg>aTg	p.T105M	ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000379385.4_Missense_Mutation_p.T105M|ADHFE1_ENST00000415254.1_Missense_Mutation_p.T57M	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	105					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			ATCCCCTTTACGGTTTATGAT	0.398																																						dbGAP											0													279.0	263.0	269.0					8																	67356944		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"""Alcohol dehydrogenases"""	16354	protein-coding gene	gene with protein product	"""hydroxyacid-oxoacid transhydrogenase"""	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.314C>T	8.37:g.67356944C>T	ENSP00000379865:p.Thr105Met		B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Missense_Mutation	SNP	pfam_ADH_Fe	p.T105M	ENST00000396623.3	37	c.314	CCDS6190.2	8	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962769	0.74016	.	.	ENSG00000147576	ENST00000523113;ENST00000379385;ENST00000396623;ENST00000415254	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.33	4.18	0.49190	Alcohol dehydrogenase, iron-type (1);	0.262238	0.41194	D	0.000933	T	0.59252	0.2180	M	0.77406	2.37	0.25509	N	0.987478	P	0.43542	0.81	P	0.50109	0.631	T	0.56013	-0.8049	10	0.56958	D	0.05	-2.1913	12.3025	0.54882	0.8516:0.1484:0.0:0.0	.	105	Q8IWW8	HOT_HUMAN	M	40;105;105;57	ENSP00000428055:T40M;ENSP00000368695:T105M;ENSP00000379865:T105M;ENSP00000407115:T57M	ENSP00000368695:T105M	T	+	2	0	ADHFE1	67519498	1.000000	0.71417	0.673000	0.29887	0.906000	0.53458	7.309000	0.78937	0.881000	0.35993	-0.467000	0.05162	ACG	ADHFE1	-	pfam_ADH_Fe	ENSG00000147576		0.398	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADHFE1	HGNC	protein_coding	OTTHUMT00000316867.3	338	0.59	2	C	NM_144650		67356944	67356944	+1	no_errors	ENST00000396623	ensembl	human	known	69_37n	missense	344	27.12	128	SNP	1.000	T
AGGF1	55109	genome.wustl.edu	37	5	76358903	76358903	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A1EU-01A-11D-A135-09	TCGA-BH-A1EU-11A-23D-A135-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc578e75-e63c-4bdf-abfa-e2d063c9cd6d	ee19abe7-fde7-4c3f-812d-2b9b8a9c4a45	g.chr5:76358903T>G	ENST00000312916.7	+	14	2353	c.1971T>G	c.(1969-1971)caT>caG	p.H657Q		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	657	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		GGCGAACACATGCAGGCTTGG	0.438																																						dbGAP											0													240.0	260.0	253.0					5																	76358903		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"""G patch domain containing"""	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.1971T>G	5.37:g.76358903T>G	ENSP00000316109:p.His657Gln		O00581|Q53YS3|Q9BU84|Q9NW66	Missense_Mutation	SNP	pfam_FHA_dom,pfam_G_patch_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_G_patch_dom,pfscan_FHA_dom,pfscan_G_patch_dom	p.H657Q	ENST00000312916.7	37	c.1971	CCDS4035.1	5	.	.	.	.	.	.	.	.	.	.	T	10.12	1.261852	0.23051	.	.	ENSG00000164252	ENST00000312916	T	0.27402	1.67	5.35	1.74	0.24563	D111/G-patch (3);	0.110120	0.64402	D	0.000004	T	0.10637	0.0260	N	0.02916	-0.46	0.80722	D	1	P	0.39094	0.659	B	0.38921	0.285	T	0.13629	-1.0502	10	0.21014	T	0.42	-0.0744	5.0366	0.14438	0.0:0.2242:0.144:0.6318	.	657	Q8N302	AGGF1_HUMAN	Q	657	ENSP00000316109:H657Q	ENSP00000316109:H657Q	H	+	3	2	AGGF1	76394659	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.931000	0.28871	0.360000	0.24265	0.528000	0.53228	CAT	AGGF1	-	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	ENSG00000164252		0.438	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGGF1	HGNC	protein_coding	OTTHUMT00000219971.2	202	0.00	0	T	NM_018046		76358903	76358903	+1	no_errors	ENST00000312916	ensembl	human	known	69_37n	missense	235	23.70	73	SNP	1.000	G
AP4M1	9179	genome.wustl.edu	37	7	99700554	99700554	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A1EU-01A-11D-A135-09	TCGA-BH-A1EU-11A-23D-A135-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc578e75-e63c-4bdf-abfa-e2d063c9cd6d	ee19abe7-fde7-4c3f-812d-2b9b8a9c4a45	g.chr7:99700554C>G	ENST00000359593.4	+	4	480	c.322C>G	c.(322-324)Ctg>Gtg	p.L108V	AP4M1_ENST00000478501.1_3'UTR|AP4M1_ENST00000422582.1_5'UTR|AP4M1_ENST00000421755.1_Missense_Mutation_p.L108V|MCM7_ENST00000303887.5_5'Flank|MCM7_ENST00000354230.3_5'Flank|MCM7_ENST00000343023.6_5'Flank|AP4M1_ENST00000429084.1_Missense_Mutation_p.L115V	NM_004722.3	NP_004713.2	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	108					Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|Golgi trans cisterna (GO:0000138)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAATGTGGCTCTGGTATACGA	0.537																																					Pancreas(174;1182 2812 29595 49511)	dbGAP											0													105.0	94.0	98.0					7																	99700554		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y08387	CCDS5685.1	7q22.1	2012-06-29			ENSG00000221838	ENSG00000221838			574	protein-coding gene	gene with protein product	"""mu-adaptin-related protein-2"", ""mu subunit of AP-4"", ""AP-4 adapter complex mu subunit"", ""adaptor-related protein complex AP-4 mu4 subunit"""	602296				9013859, 10066790, 21620353	Standard	NM_004722		Approved	MU-ARP2, MU-4, SPG50	uc003utb.4	O00189	OTTHUMG00000154722	ENST00000359593.4:c.322C>G	7.37:g.99700554C>G	ENSP00000352603:p.Leu108Val		D6W5U1|Q8WV65|Q9UHK9	Missense_Mutation	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.L108V	ENST00000359593.4	37	c.322	CCDS5685.1	7	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982669	0.74474	.	.	ENSG00000221838	ENST00000429084;ENST00000359593;ENST00000421755	T;T;T	0.78924	-1.22;-1.21;-1.21	4.96	4.08	0.47627	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	D	0.82972	0.5153	L	0.48642	1.525	0.80722	D	1	D;D;D;D	0.89917	0.993;0.998;1.0;1.0	D;D;D;D	0.91635	0.952;0.961;0.99;0.999	T	0.81547	-0.0883	10	0.35671	T	0.21	-21.6541	13.2357	0.59969	0.0:0.8394:0.1606:0.0	.	110;60;115;108	C9JMG3;B4DKN7;C9JC87;O00189	.;.;.;AP4M1_HUMAN	V	115;108;108	ENSP00000403663:L115V;ENSP00000352603:L108V;ENSP00000412185:L108V	ENSP00000352603:L108V	L	+	1	2	AP4M1	99538490	1.000000	0.71417	0.995000	0.50966	0.908000	0.53690	4.973000	0.63763	1.296000	0.44742	-0.264000	0.10439	CTG	AP4M1	-	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu,prints_Clathrin_mu	ENSG00000221838		0.537	AP4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP4M1	HGNC	protein_coding	OTTHUMT00000336772.4	188	0.53	1	C	NM_004722		99700554	99700554	+1	no_errors	ENST00000359593	ensembl	human	known	69_37n	missense	141	28.06	55	SNP	0.998	G
CAD	790	genome.wustl.edu	37	2	27460602	27460602	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A1EU-01A-11D-A135-09	TCGA-BH-A1EU-11A-23D-A135-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc578e75-e63c-4bdf-abfa-e2d063c9cd6d	ee19abe7-fde7-4c3f-812d-2b9b8a9c4a45	g.chr2:27460602C>A	ENST00000403525.1	+	28	4535	c.4391C>A	c.(4390-4392)gCc>gAc	p.A1464D	CAD_ENST00000264705.4_Missense_Mutation_p.A1527D			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGGCTGGCGCCCGGTGCGAC	0.627																																						dbGAP											0													40.0	45.0	43.0					2																	27460602		2203	4300	6503	-	-	-	SO:0001583	missense	0			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.4391C>A	2.37:g.27460602C>A	ENSP00000384510:p.Ala1464Asp		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf_euk,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf_euk	p.A1527D	ENST00000403525.1	37	c.4580		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.16|15.16	2.750689|2.750689	0.49257|0.49257	.|.	.|.	ENSG00000084774|ENSG00000084774	ENST00000264705;ENST00000403525|ENST00000458503	T;T|.	0.46819|.	0.86;0.86|.	4.75|4.75	4.75|4.75	0.60458|0.60458	Amidohydrolase 1 (1);|.	0.221177|.	0.46442|.	D|.	0.000286|.	T|T	0.73892|0.73892	0.3645|0.3645	M|M	0.70842|0.70842	2.15|2.15	0.50313|0.50313	D|D	0.999868|0.999868	B;P|.	0.37101|.	0.135;0.582|.	B;B|.	0.38225|.	0.043;0.268|.	T|T	0.74714|0.74714	-0.3572|-0.3572	10|5	0.87932|.	D|.	0|.	0.4068|0.4068	16.3335|16.3335	0.83051|0.83051	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1464;1527|.	F8VPD4;P27708|.	.;PYR1_HUMAN|.	D|T	1527;1464|179	ENSP00000264705:A1527D;ENSP00000384510:A1464D|.	ENSP00000264705:A1527D|.	A|P	+|+	2|1	0|0	CAD|CAD	27314106|27314106	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.068000|0.068000	0.16541|0.16541	5.399000|5.399000	0.66314|0.66314	2.176000|2.176000	0.68965|0.68965	0.555000|0.555000	0.69702|0.69702	GCC|CCC	CAD	-	pfam_Amidohydro_1	ENSG00000084774		0.627	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1	72	0.00	0	C			27460602	27460602	+1	no_errors	ENST00000264705	ensembl	human	known	69_37n	missense	50	26.09	18	SNP	1.000	A
CCR3	1232	genome.wustl.edu	37	3	46307328	46307328	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A1EU-01A-11D-A135-09	TCGA-BH-A1EU-11A-23D-A135-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc578e75-e63c-4bdf-abfa-e2d063c9cd6d	ee19abe7-fde7-4c3f-812d-2b9b8a9c4a45	g.chr3:46307328delC	ENST00000357422.2	+	4	1222	c.679delC	c.(679-681)ctgfs	p.L227fs	CCR3_ENST00000545097.1_Frame_Shift_Del_p.L248fs|CCR3_ENST00000395942.2_Frame_Shift_Del_p.L227fs|CCR3_ENST00000541018.1_Frame_Shift_Del_p.L227fs|CCR3_ENST00000395940.2_Frame_Shift_Del_p.L227fs			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	227					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CAAAACGCTGCTGAGGTGCCC	0.473																																						dbGAP											0													76.0	75.0	75.0					3																	46307328		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.679delC	3.37:g.46307328delC	ENSP00000350003:p.Leu227fs		B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Frame_Shift_Del	DEL	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR3,prints_Chemokine_CCR1,prints_P2_purnocptor	p.L248fs	ENST00000357422.2	37	c.742	CCDS2738.1	3																																																																																			CCR3	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_CCR3,prints_Chemokine_CCR1,prints_P2_purnocptor	ENSG00000183625		0.473	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR3	HGNC	protein_coding	OTTHUMT00000257380.2	280	0.00	0	C			46307328	46307328	+1	no_errors	ENST00000545097	ensembl	human	known	69_37n	frame_shift_del	203	20.38	54	DEL	0.884	-
FLG	2312	genome.wustl.edu	37	1	152276139	152276139	+	Silent	SNP	C	C	T			TCGA-BH-A1EU-01A-11D-A135-09	TCGA-BH-A1EU-11A-23D-A135-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc578e75-e63c-4bdf-abfa-e2d063c9cd6d	ee19abe7-fde7-4c3f-812d-2b9b8a9c4a45	g.chr1:152276139C>T	ENST00000368799.1	-	3	11258	c.11223G>A	c.(11221-11223)caG>caA	p.Q3741Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3741	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCTCGTGCCTGCTCGTGGC	0.607									Ichthyosis																													dbGAP											0													251.0	250.0	250.0					1																	152276139		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11223G>A	1.37:g.152276139C>T			Q01720|Q5T583|Q9UC71	Silent	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.Q3741	ENST00000368799.1	37	c.11223	CCDS30860.1	1																																																																																			FLG	-	NULL	ENSG00000143631		0.607	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	496	0.60	3	C	NM_002016		152276139	152276139	-1	no_errors	ENST00000368799	ensembl	human	known	69_37n	silent	509	20.81	134	SNP	0.009	T
FLNB	2317	genome.wustl.edu	37	3	58097580	58097582	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-BH-A1EU-01A-11D-A135-09	TCGA-BH-A1EU-11A-23D-A135-09	GGC	GGC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc578e75-e63c-4bdf-abfa-e2d063c9cd6d	ee19abe7-fde7-4c3f-812d-2b9b8a9c4a45	g.chr3:58097580_58097582delGGC	ENST00000295956.4	+	17	2712_2714	c.2547_2549delGGC	c.(2545-2550)aaggca>aaa	p.A850del	FLNB_ENST00000348383.5_In_Frame_Del_p.A850del|FLNB_ENST00000429972.2_In_Frame_Del_p.A850del|FLNB_ENST00000419752.2_In_Frame_Del_p.A681del|FLNB_ENST00000490882.1_In_Frame_Del_p.A850del|FLNB_ENST00000493452.1_In_Frame_Del_p.A681del|FLNB_ENST00000358537.3_In_Frame_Del_p.A850del|FLNB_ENST00000357272.4_In_Frame_Del_p.A850del	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	850					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GCAAAGTGAAGGCAGAAGGCCCA	0.581																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.2547_2549delGGC	3.37:g.58097580_58097582delGGC	ENSP00000295956:p.Ala850del		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	In_Frame_Del	DEL	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.A850in_frame_del	ENST00000295956.4	37	c.2547_2549	CCDS2885.1	3																																																																																			FLNB	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000136068		0.581	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLNB	HGNC	protein_coding	OTTHUMT00000353569.1	165	0.00	0	GGC	NM_001457		58097580	58097582	+1	no_errors	ENST00000295956	ensembl	human	known	69_37n	in_frame_del	128	21.08	35	DEL	1.000:1.000:1.000	-
GRIK4	2900	genome.wustl.edu	37	11	120833362	120833362	+	Silent	SNP	C	C	T			TCGA-BH-A1EU-01A-11D-A135-09	TCGA-BH-A1EU-11A-23D-A135-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc578e75-e63c-4bdf-abfa-e2d063c9cd6d	ee19abe7-fde7-4c3f-812d-2b9b8a9c4a45	g.chr11:120833362C>T	ENST00000527524.2	+	18	2525	c.2238C>T	c.(2236-2238)acC>acT	p.T746T	GRIK4_ENST00000438375.2_Silent_p.T746T	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	746					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		TGCTGGACACCAAGGGCTATG	0.537																																						dbGAP											0													86.0	89.0	88.0					11																	120833362		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.2238C>T	11.37:g.120833362C>T			A8K9L1	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.T746	ENST00000527524.2	37	c.2238	CCDS8433.1	11																																																																																			GRIK4	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000149403		0.537	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK4	HGNC	protein_coding	OTTHUMT00000109760.4	107	0.00	0	C	NM_014619		120833362	120833362	+1	no_errors	ENST00000527524	ensembl	human	known	69_37n	silent	79	21.00	21	SNP	1.000	T
KIAA1109	84162	genome.wustl.edu	37	4	123156157	123156157	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1EU-01A-11D-A135-09	TCGA-BH-A1EU-11A-23D-A135-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc578e75-e63c-4bdf-abfa-e2d063c9cd6d	ee19abe7-fde7-4c3f-812d-2b9b8a9c4a45	g.chr4:123156157G>A	ENST00000264501.4	+	27	3926	c.3553G>A	c.(3553-3555)Gaa>Aaa	p.E1185K	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.E1185K|KIAA1109_ENST00000388738.3_Missense_Mutation_p.E1185K			Q2LD37	K1109_HUMAN	KIAA1109	1185					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AATTACTAAAGAAATTCCCAA	0.358																																						dbGAP											0													82.0	81.0	82.0					4																	123156157		1835	4090	5925	-	-	-	SO:0001583	missense	0			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.3553G>A	4.37:g.123156157G>A	ENSP00000264501:p.Glu1185Lys		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.E1185K	ENST00000264501.4	37	c.3553	CCDS43267.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.2|26.2	4.717743|4.717743	0.89205|0.89205	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000424425	T;T;T|.	0.25250|.	2.41;2.41;1.81|.	5.56|5.56	4.72|4.72	0.59763|0.59763	.|.	4.123420|.	0.02671|.	U|.	0.108528|.	T|T	0.51024|0.51024	0.1650|0.1650	N|N	0.24115|0.24115	0.695|0.695	0.47905|0.47905	D|D	0.999541|0.999541	B|.	0.12013|.	0.005|.	B|.	0.10450|.	0.005|.	T|T	0.45906|0.45906	-0.9229|-0.9229	10|5	0.32370|.	T|.	0.25|.	.|.	14.2545|14.2545	0.66043|0.66043	0.0716:0.0:0.9284:0.0|0.0716:0.0:0.9284:0.0	.|.	1185|.	Q2LD37|.	K1109_HUMAN|.	K|K	1185|1016	ENSP00000264501:E1185K;ENSP00000373390:E1185K;ENSP00000389925:E1185K|.	ENSP00000264501:E1185K|.	E|R	+|+	1|2	0|0	KIAA1109|KIAA1109	123375607|123375607	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.997000|0.997000	0.91878|0.91878	9.147000|9.147000	0.94646|0.94646	1.345000|1.345000	0.45676|0.45676	0.557000|0.557000	0.71058|0.71058	GAA|AGA	KIAA1109	-	NULL	ENSG00000138688		0.358	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	222	0.00	0	G	NM_020797		123156157	123156157	+1	no_errors	ENST00000264501	ensembl	human	known	69_37n	missense	133	16.35	26	SNP	1.000	A
KPNA4	3840	genome.wustl.edu	37	3	160283041	160283041	+	Silent	SNP	T	T	C			TCGA-BH-A1EU-01A-11D-A135-09	TCGA-BH-A1EU-11A-23D-A135-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc578e75-e63c-4bdf-abfa-e2d063c9cd6d	ee19abe7-fde7-4c3f-812d-2b9b8a9c4a45	g.chr3:160283041T>C	ENST00000334256.4	-	1	335	c.30A>G	c.(28-30)caA>caG	p.Q10Q	KRT8P12_ENST00000468527.1_RNA|KPNA4_ENST00000469804.1_5'UTR	NM_002268.4	NP_002259.1	O00629	IMA3_HUMAN	karyopherin alpha 4 (importin alpha 3)	10	IBB. {ECO:0000255|PROSITE- ProRule:PRU00561}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			TCTTGAGCCGTTGGTTGTCCA	0.692																																						dbGAP											0													69.0	60.0	63.0					3																	160283041		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002533	CCDS3191.1	3q25.33	2013-02-14			ENSG00000186432	ENSG00000186432		"""Importins"", ""Armadillo repeat containing"""	6397	protein-coding gene	gene with protein product		602970				9168958, 9395085	Standard	NM_002268		Approved	QIP1, SRP3, IPOA3, MGC12217, MGC26703	uc003fdn.3	O00629	OTTHUMG00000159033	ENST00000334256.4:c.30A>G	3.37:g.160283041T>C			A8K4S6|D3DNM2|O00190	Silent	SNP	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.Q10	ENST00000334256.4	37	c.30	CCDS3191.1	3																																																																																			KPNA4	-	pfam_Importin-a_IBB,superfamily_ARM-type_fold,pfscan_Importin-a_IBB	ENSG00000186432		0.692	KPNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA4	HGNC	protein_coding	OTTHUMT00000352960.1	139	0.00	0	T	NM_002268		160283041	160283041	-1	no_errors	ENST00000334256	ensembl	human	known	69_37n	silent	142	23.66	44	SNP	1.000	C
MFSD8	256471	genome.wustl.edu	37	4	128854182	128854182	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A1EU-01A-11D-A135-09	TCGA-BH-A1EU-11A-23D-A135-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc578e75-e63c-4bdf-abfa-e2d063c9cd6d	ee19abe7-fde7-4c3f-812d-2b9b8a9c4a45	g.chr4:128854182A>G	ENST00000296468.3	-	9	948	c.821T>C	c.(820-822)gTt>gCt	p.V274A	MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000541133.1_Missense_Mutation_p.F181L|MFSD8_ENST00000513559.1_Missense_Mutation_p.V229A	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	274					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						AAAAAACAGAACATTGATGGC	0.338																																						dbGAP											0													162.0	160.0	161.0					4																	128854182		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"""ceroid-lipofuscinosis, neuronal 7, late infantile, variant"""	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.821T>C	4.37:g.128854182A>G	ENSP00000296468:p.Val274Ala		B2RDM1|B7Z205|Q8N2P3	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.V274A	ENST00000296468.3	37	c.821	CCDS3736.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.25|13.25	2.180770|2.180770	0.38511|0.38511	.|.	.|.	ENSG00000164073|ENSG00000164073	ENST00000541133|ENST00000296468;ENST00000513559	T|T;T	0.77358|0.81078	-1.09|-1.45;-1.45	4.55|4.55	4.55|4.55	0.56014|0.56014	.|Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	.|0.840554	.|0.10873	.|N	.|0.624719	T|T	0.72969|0.72969	0.3527|0.3527	L|L	0.35854|0.35854	1.095|1.095	0.22571|0.22571	N|N	0.998974|0.998974	B|B;B	0.02656|0.20261	0.0|0.009;0.043	B|B;B	0.04013|0.16722	0.001|0.003;0.016	T|T	0.56920|0.56920	-0.7899|-0.7899	9|10	0.66056|0.18276	D|T	0.02|0.48	-4.9351|-4.9351	14.0805|14.0805	0.64917|0.64917	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	181|236;274	B7Z2B2|B7Z280;Q8NHS3	.|.;MFSD8_HUMAN	L|A	181|274;229	ENSP00000439616:F181L|ENSP00000296468:V274A;ENSP00000425000:V229A	ENSP00000439616:F181L|ENSP00000296468:V274A	F|V	-|-	1|2	0|0	MFSD8|MFSD8	129073632|129073632	1.000000|1.000000	0.71417|0.71417	0.925000|0.925000	0.36789|0.36789	0.224000|0.224000	0.24922|0.24922	5.388000|5.388000	0.66249|0.66249	1.907000|1.907000	0.55213|0.55213	0.477000|0.477000	0.44152|0.44152	TTC|GTT	MFSD8	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000164073		0.338	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD8	HGNC	protein_coding	OTTHUMT00000257097.1	413	0.00	0	A	NM_152778		128854182	128854182	-1	no_errors	ENST00000296468	ensembl	human	known	69_37n	missense	371	11.46	48	SNP	0.929	G
PDE9A	5152	genome.wustl.edu	37	21	44182234	44182234	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A1EU-01A-11D-A135-09	TCGA-BH-A1EU-11A-23D-A135-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc578e75-e63c-4bdf-abfa-e2d063c9cd6d	ee19abe7-fde7-4c3f-812d-2b9b8a9c4a45	g.chr21:44182234A>G	ENST00000291539.6	+	14	1187	c.1127A>G	c.(1126-1128)aAt>aGt	p.N376S	PDE9A_ENST00000398234.3_Missense_Mutation_p.N275S|PDE9A_ENST00000398236.3_Missense_Mutation_p.N290S|PDE9A_ENST00000398229.3_Missense_Mutation_p.N242S|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398225.3_Missense_Mutation_p.N335S|PDE9A_ENST00000398227.3_Missense_Mutation_p.N216S|PDE9A_ENST00000539837.1_Missense_Mutation_p.N248S|PDE9A_ENST00000328862.6_Missense_Mutation_p.N350S|PDE9A_ENST00000398232.3_Missense_Mutation_p.N309S|PDE9A_ENST00000398224.3_Missense_Mutation_p.N249S|PDE9A_ENST00000335440.6_Missense_Mutation_p.N274S|PDE9A_ENST00000335512.4_Missense_Mutation_p.N316S|PDE9A_ENST00000380328.2_Missense_Mutation_p.N323S|PDE9A_ENST00000349112.3_Missense_Mutation_p.N248S	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	376	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	GTCCGCTACAATGACATCTCA	0.612																																						dbGAP											0													127.0	102.0	110.0					21																	44182234		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.1127A>G	21.37:g.44182234A>G	ENSP00000291539:p.Asn376Ser		B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.N376S	ENST00000291539.6	37	c.1127	CCDS13690.1	21	.	.	.	.	.	.	.	.	.	.	A	22.3	4.270110	0.80469	.	.	ENSG00000160191	ENST00000335512;ENST00000539837;ENST00000291539;ENST00000380328;ENST00000398232;ENST00000398234;ENST00000398236;ENST00000328862;ENST00000335440;ENST00000398225;ENST00000398229;ENST00000398227;ENST00000349112;ENST00000398224	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29	5.15	5.15	0.70609	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.88897	0.6562	M	0.79614	2.46	0.51482	D	0.999923	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.996;1.0;0.996;0.996;1.0;0.998;0.995;0.996;0.996;0.996;0.996;0.999;0.997;0.999;0.996;1.0	P;D;P;P;D;P;P;P;P;P;P;D;P;D;P;D	0.66847	0.788;0.938;0.788;0.862;0.911;0.874;0.741;0.788;0.862;0.862;0.862;0.911;0.825;0.911;0.862;0.947	D	0.90491	0.4467	10	0.87932	D	0	.	14.9918	0.71393	1.0:0.0:0.0:0.0	.	248;309;290;275;350;335;268;316;159;216;242;248;274;323;249;376	F5GWD0;O76083-13;O76083-8;O76083-6;O76083-15;O76083-14;O76083-16;O76083-2;O76083-10;O76083-9;O76083-11;O76083-4;O76083-12;O76083-5;O76083-3;O76083	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;PDE9A_HUMAN	S	316;248;376;323;309;275;290;350;274;335;242;216;248;249	ENSP00000335242:N316S;ENSP00000441899:N248S;ENSP00000291539:N376S;ENSP00000369685:N323S;ENSP00000381287:N309S;ENSP00000381289:N275S;ENSP00000381291:N290S;ENSP00000328699:N350S;ENSP00000335365:N274S;ENSP00000381281:N335S;ENSP00000381285:N242S;ENSP00000381283:N216S;ENSP00000344730:N248S;ENSP00000381280:N249S	ENSP00000291539:N376S	N	+	2	0	PDE9A	43055303	1.000000	0.71417	0.996000	0.52242	0.776000	0.43924	8.759000	0.91667	1.941000	0.56285	0.455000	0.32223	AAT	PDE9A	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	ENSG00000160191		0.612	PDE9A-016	KNOWN	basic|CCDS	protein_coding	PDE9A	HGNC	protein_coding	OTTHUMT00000195466.1	95	0.00	0	A			44182234	44182234	+1	no_errors	ENST00000291539	ensembl	human	known	69_37n	missense	85	27.35	32	SNP	1.000	G
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	T	rs121913279		TCGA-BH-A1EU-01A-11D-A135-09	TCGA-BH-A1EU-11A-23D-A135-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc578e75-e63c-4bdf-abfa-e2d063c9cd6d	ee19abe7-fde7-4c3f-812d-2b9b8a9c4a45	g.chr3:178952085A>T	ENST00000263967.3	+	21	3297	c.3140A>T	c.(3139-3141)cAt>cTt	p.H1047L	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>T	3.37:g.178952085A>T	ENSP00000263967:p.His1047Leu		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.H1047L	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	4.518	0.096038	0.08681	.	.	ENSG00000121879	ENST00000263967	T	0.78126	-1.15	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	0.47002	0.1422	N	0.00611	-1.325	0.80722	D	1	B	0.14438	0.01	B	0.12156	0.007	T	0.58053	-0.7704	10	0.02654	T	1	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	L	1047	ENSP00000263967:H1047L	ENSP00000263967:H1047L	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	203	0.49	1	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	194	28.68	78	SNP	1.000	T
PNMA2	10687	genome.wustl.edu	37	8	26365461	26365461	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1EU-01A-11D-A135-09	TCGA-BH-A1EU-11A-23D-A135-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc578e75-e63c-4bdf-abfa-e2d063c9cd6d	ee19abe7-fde7-4c3f-812d-2b9b8a9c4a45	g.chr8:26365461G>A	ENST00000522362.2	-	3	1705	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	PNMA2_ENST00000522764.1_5'Flank	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	271					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		gtttctagccgtaacacatag	0.592																																						dbGAP											0													53.0	52.0	52.0					8																	26365461		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34868.1	8p21.1	2012-02-09	2012-02-09		ENSG00000240694	ENSG00000240694		"""Paraneoplastic Ma antigens"""	9159	protein-coding gene	gene with protein product		603970	"""paraneoplastic antigen MA2"""			10362822	Standard	NM_007257		Approved	MA2, RGAG2	uc003xez.2	Q9UL42	OTTHUMG00000163816	ENST00000522362.2:c.811C>T	8.37:g.26365461G>A	ENSP00000429344:p.Arg271Trp		B3KNY9|O94959|O95145|Q49A18|Q9UL43	Missense_Mutation	SNP	pfam_Retrotrans_gag	p.R271W	ENST00000522362.2	37	c.811	CCDS34868.1	8	.	.	.	.	.	.	.	.	.	.	G	10.59	1.393226	0.25118	.	.	ENSG00000240694	ENST00000522362	T	0.15952	2.38	4.32	3.45	0.39498	Retrotransposon gag protein (1);	.	.	.	.	T	0.34716	0.0907	M	0.70595	2.14	0.09310	N	1	D	0.76494	0.999	P	0.60236	0.871	T	0.07520	-1.0768	9	0.87932	D	0	-15.8209	9.856	0.41086	0.0:0.0:0.7963:0.2037	.	271	Q9UL42	PNMA2_HUMAN	W	271	ENSP00000429344:R271W	ENSP00000429344:R271W	R	-	1	2	PNMA2	26421378	0.003000	0.15002	0.017000	0.16124	0.001000	0.01503	0.939000	0.28978	1.415000	0.47037	-0.152000	0.13540	CGG	PNMA2	-	pfam_Retrotrans_gag	ENSG00000240694		0.592	PNMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNMA2	HGNC	protein_coding	OTTHUMT00000375709.2	128	0.00	0	G	NM_007257		26365461	26365461	-1	no_errors	ENST00000522362	ensembl	human	known	69_37n	missense	105	19.23	25	SNP	0.023	A
PPP3CA	5530	genome.wustl.edu	37	4	102117231	102117231	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A1EU-01A-11D-A135-09	TCGA-BH-A1EU-11A-23D-A135-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc578e75-e63c-4bdf-abfa-e2d063c9cd6d	ee19abe7-fde7-4c3f-812d-2b9b8a9c4a45	g.chr4:102117231A>G	ENST00000394854.3	-	2	784	c.101T>C	c.(100-102)gTg>gCg	p.V34A	PPP3CA_ENST00000507176.1_Intron|PPP3CA_ENST00000512215.1_Missense_Mutation_p.V34A|PPP3CA_ENST00000323055.6_Missense_Mutation_p.V34A|PPP3CA_ENST00000394853.4_Missense_Mutation_p.V34A|PPP3CA_ENST00000523694.2_Intron	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	34	Catalytic.				calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		ATTATCAAACACTTCTTTTGC	0.393																																						dbGAP											0													102.0	102.0	102.0					4																	102117231		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9314	protein-coding gene	gene with protein product	"""calcineurin A alpha"", ""protein phosphatase 2B, catalytic subunit, alpha isoform"""	114105	"""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"""	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.101T>C	4.37:g.102117231A>G	ENSP00000378323:p.Val34Ala		A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.V34A	ENST00000394854.3	37	c.101	CCDS34037.1	4	.	.	.	.	.	.	.	.	.	.	A	20.2	3.948338	0.73787	.	.	ENSG00000138814	ENST00000512215;ENST00000394854;ENST00000323055;ENST00000394853	T;T;T;T	0.66995	-0.24;3.35;3.35;3.35	5.65	5.65	0.86999	.	0.153320	0.41938	D	0.000795	D	0.83013	0.5162	M	0.85197	2.74	0.80722	D	1	P;P;P;P	0.52577	0.482;0.954;0.812;0.864	P;D;P;P	0.67900	0.562;0.954;0.633;0.546	D	0.85795	0.1370	10	0.87932	D	0	-13.6314	15.3584	0.74448	1.0:0.0:0.0:0.0	.	34;34;34;34	Q08209;A8W6Z8;A8W6Z7;Q08209-2	PP2BA_HUMAN;.;.;.	A	34	ENSP00000422781:V34A;ENSP00000378323:V34A;ENSP00000320580:V34A;ENSP00000378322:V34A	ENSP00000320580:V34A	V	-	2	0	PPP3CA	102336254	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.946000	0.92992	2.279000	0.76181	0.533000	0.62120	GTG	PPP3CA	-	NULL	ENSG00000138814		0.393	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PPP3CA	HGNC	protein_coding	OTTHUMT00000258379.2	356	0.28	1	A	NM_000944		102117231	102117231	-1	no_errors	ENST00000394854	ensembl	human	known	69_37n	missense	348	13.37	54	SNP	1.000	G
TYR	7299	genome.wustl.edu	37	11	89018003	89018003	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1EU-01A-11D-A135-09	TCGA-BH-A1EU-11A-23D-A135-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc578e75-e63c-4bdf-abfa-e2d063c9cd6d	ee19abe7-fde7-4c3f-812d-2b9b8a9c4a45	g.chr11:89018003C>T	ENST00000263321.5	+	4	1749	c.1247C>T	c.(1246-1248)gCa>gTa	p.A416V		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	416			A -> S (in OCA1A). {ECO:0000269|PubMed:15146472}.		cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	GAAGCCAATGCACCCATTGGA	0.408																																						dbGAP											0													72.0	73.0	72.0					11																	89018003		2201	4299	6500	-	-	-	SO:0001583	missense	0			M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.1247C>T	11.37:g.89018003C>T	ENSP00000263321:p.Ala416Val		Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	p.A416V	ENST00000263321.5	37	c.1247	CCDS8284.1	11	.	.	.	.	.	.	.	.	.	.	C	26.1	4.708562	0.89018	.	.	ENSG00000077498	ENST00000263321	D	0.99014	-5.33	4.68	4.68	0.58851	Uncharacterised domain, di-copper centre (2);	0.000000	0.85682	D	0.000000	D	0.99254	0.9740	M	0.82923	2.615	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.99267	1.0892	9	.	.	.	.	17.6247	0.88091	0.0:1.0:0.0:0.0	.	416	P14679	TYRO_HUMAN	V	416	ENSP00000263321:A416V	.	A	+	2	0	TYR	88657651	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.381000	0.79718	2.166000	0.68216	0.555000	0.69702	GCA	TYR	-	superfamily_Unchr_di-copper_centre	ENSG00000077498		0.408	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYR	HGNC	protein_coding	OTTHUMT00000394045.2	176	0.00	0	C	NM_000372		89018003	89018003	+1	no_errors	ENST00000263321	ensembl	human	known	69_37n	missense	181	26.72	66	SNP	1.000	T
