#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_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_Chromosome_hg18	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_End_position_hg18	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_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
MMP21	118856	genome.wustl.edu	37	10	127455253	127455253	+	Missense_Mutation	SNP	T	T	C	rs189081094		TCGA-25-1316-01A-01W-0494-09	TCGA-25-1316-10A-01W-0494-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	d75a0b16-04e4-4ba3-a695-132c5ace698b	491a7bb5-af4a-4503-a09d-6e7bb09f137c	g.chr10:127455253T>C	ENST00000368808.3	-	7	1687	c.1688A>G	c.(1687-1689)cAt>cGt	p.H563R		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	563					hematopoietic progenitor cell differentiation (GO:0002244)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.H563R(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)			Marimastat(DB00786)	TGTGGAGATATGGACGTCACA	0.363													T|||	1	0.000199681	0.0	0.0	5008	,	,		17342	0.001		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)	10											90.0	89.0	89.0					10																	127455253		2203	4300	6503	127445243	SO:0001583	missense	118856			AF331526	CCDS7647.1	10q26.3	2008-07-28	2005-08-08		ENSG00000154485	ENSG00000154485			14357	protein-coding gene	gene with protein product		608416	"""matrix metalloproteinase 21"""			11255011	Standard	NM_147191		Approved		uc001liu.3	Q8N119	OTTHUMG00000019235	ENST00000368808.3:c.1688A>G	10.37:g.127455253T>C	ENSP00000357798:p.His563Arg		127445243	Q5VZP9|Q8NG02	Missense_Mutation	SNP	"HMMPfam_Hemopexin;superfamily_Hemopexin-like domain;HMMPfam_Peptidase_M10;HMMPfam_PG_binding_1;superfamily_PGBD-like;superfamily_Metalloproteases (""zincins"") catalytic domain"	p.H563R	ENST00000368808.3	37	c.1688	CCDS7647.1	10	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	22.3	4.265711	0.80358	.	.	ENSG00000154485	ENST00000368808	T	0.18174	2.23	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.41442	0.1159	M	0.74258	2.255	0.45378	D	0.998368	D	0.89917	1.0	D	0.70935	0.971	T	0.24154	-1.0168	10	0.51188	T	0.08	-13.8999	14.1039	0.65075	0.0:0.0:0.0:1.0	.	563	Q8N119	MMP21_HUMAN	R	563	ENSP00000357798:H563R	ENSP00000357798:H563R	H	-	2	0	MMP21	127445243	1.000000	0.71417	0.287000	0.24848	0.980000	0.70556	4.965000	0.63708	2.216000	0.71823	0.533000	0.62120	CAT	-	NULL		0.363	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP21	protein_coding	OTTHUMT00000050928.1	T			127445243	-1	no_errors	NM_147191	genbank	human	reviewed	54_36p	missense	SNP	0.99	C
IGHG2	3501	genome.wustl.edu	37	14	106109601	106109601	+	RNA	SNP	A	A	G			TCGA-25-1316-01A-01W-0494-09	TCGA-25-1316-10A-01W-0494-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	d75a0b16-04e4-4ba3-a695-132c5ace698b	491a7bb5-af4a-4503-a09d-6e7bb09f137c	g.chr14:106109601A>G	ENST00000390545.2	-	0	919							P01859	IGHG2_HUMAN	immunoglobulin heavy constant gamma 2 (G2m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										AGCCTCATGCATCACGGAGCA	0.617																																																0			14											62.0	62.0	62.0					14																	106109601		1810	4083	5893	105180646			3501			J00230		14q32.33	2012-10-02			ENSG00000211893	ENSG00000211893		"""Immunoglobulins / IGH locus"""	5526	other	immunoglobulin gene		147110					Standard	NG_001019		Approved			P01859	OTTHUMG00000152482		14.37:g.106109601A>G			105180646	A6NE66	Missense_Mutation	SNP	-	p.C307R	ENST00000390545.2	37	c.919		14																																																																																			-	NULL		0.617	IGHG2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IGHG2	IG_C_gene	OTTHUMT00000326391.1	A	NG_001019		105180646	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000390545	ensembl	human	known	54_36p	missense	SNP		G
KCNJ11	3767	genome.wustl.edu	37	11	17408538	17408545	+	Frame_Shift_Del	DEL	GGGCCCGC	GGGCCCGC	-	rs149141985|rs143276279|rs138168190	byFrequency	TCGA-25-1316-01A-01W-0494-09	TCGA-25-1316-10A-01W-0494-09	GGGCCCGC	GGGCCCGC	GGGCCCGC	-	GGGCCCGC	GGGCCCGC	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	d75a0b16-04e4-4ba3-a695-132c5ace698b	491a7bb5-af4a-4503-a09d-6e7bb09f137c	g.chr11:17408538_17408545delGGGCCCGC	ENST00000339994.4	-	1	1661_1668	c.1094_1101delGCGGGCCC	c.(1093-1101)cgcgggcccfs	p.RGP365fs	KCNJ11_ENST00000526747.1_5'Flank|KCNJ11_ENST00000528731.1_Frame_Shift_Del_p.RGP278fs	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	365					cellular response to glucose stimulus (GO:0071333)|cellular response to nicotine (GO:0071316)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|negative regulation of insulin secretion (GO:0046676)|neurological system process (GO:0050877)|positive regulation of cation channel activity (GO:2001259)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ischemia (GO:0002931)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	ATP-sensitive potassium channel complex (GO:0008282)|axolemma (GO:0030673)|cell body fiber (GO:0070852)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|ion channel binding (GO:0044325)|potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.R365fs>24(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	GCTTGCGCAGGGGCCCGCGGGCTGAGGC	0.644											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Deletion - Frameshift(1)	ovary(1)	11	GRCh37	CM074296	KCNJ11	M																																				17365121	SO:0001589	frameshift_variant	3767			D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6257	protein-coding gene	gene with protein product		600937				7502040, 16382105	Standard	NM_001166290		Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.1094_1101delGCGGGCCC	11.37:g.17408538_17408545delGGGCCCGC	ENSP00000345708:p.Arg365fs	717	17365114	B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	Frame_Shift_Del	DEL	-	p.R365fs	ENST00000339994.4	37	c.1101_1094	CCDS31436.1	11																																																																																			(deletion:cds_exon[17365042;17366214])	NULL		0.644	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ11	protein_coding	OTTHUMT00000387037.1	GGGCCCGC	NM_000525		17365121	-1	no_errors	NM_000525	genbank	human	reviewed	54_36p	frame_shift_del	DEL	0.057:0.060:0.050:0.001:0.001:0.001:0.000:0.001	-
PTGDR2	11251	genome.wustl.edu	37	11	60620803	60620803	+	Silent	SNP	C	C	A			TCGA-25-1316-01A-01W-0494-09	TCGA-25-1316-10A-01W-0494-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	d75a0b16-04e4-4ba3-a695-132c5ace698b	491a7bb5-af4a-4503-a09d-6e7bb09f137c	g.chr11:60620803C>A	ENST00000332539.4	-	2	504	c.393G>T	c.(391-393)ctG>ctT	p.L131L	RP11-804A23.4_ENST00000538705.1_RNA	NM_004778.2	NP_004769.2	Q9Y5Y4	PD2R2_HUMAN	prostaglandin D2 receptor 2	131					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|calcium-mediated signaling (GO:0019722)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|prostaglandin D receptor activity (GO:0004956)|prostaglandin F receptor activity (GO:0004958)|prostaglandin J receptor activity (GO:0001785)	p.L131L(1)								Indomethacin(DB00328)|Sulindac(DB00605)	GCACCACCTGCAGGCAGCGGT	0.642																																																1	Substitution - coding silent(1)	ovary(1)	11											18.0	19.0	19.0					11																	60620803		2198	4296	6494	60377379	SO:0001819	synonymous_variant	11251			AF118265	CCDS7994.1	11q12-q13.3	2012-08-08	2011-11-11	2011-11-11		ENSG00000183134		"""CD molecules"", ""GPCR / Class A : Prostanoid receptors"""	4502	protein-coding gene	gene with protein product	"""chemoattractant receptor homologous molecule expressed on T helper type 2 cells"""	604837	"""G protein-coupled receptor 44"""	GPR44		10036181	Standard	NM_004778		Approved	CRTH2, CD294, DP2	uc001nqc.2	Q9Y5Y4		ENST00000332539.4:c.393G>T	11.37:g.60620803C>A			60377379	O94765|Q4QRI6	Silent	SNP	HMMPfam_7tm_1;superfamily_Family A G protein-coupled receptor-like	p.L131	ENST00000332539.4	37	c.393	CCDS7994.1	11																																																																																			-	HMMPfam_7tm_1		0.642	PTGDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR44	protein_coding	OTTHUMT00000396328.1	C	NM_004778		60377379	-1	no_errors	NM_004778	genbank	human	validated	54_36p	silent	SNP	1	A
KRAS	3845	genome.wustl.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-25-1316-01A-01W-0494-09	TCGA-25-1316-10A-01W-0494-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	d75a0b16-04e4-4ba3-a695-132c5ace698b	491a7bb5-af4a-4503-a09d-6e7bb09f137c	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	12											91.0	81.0	85.0					12																	25398284		2203	4300	6503	25289551	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val		25289551	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases;Ras;HMMPfam_Ras	p.G12V	ENST00000256078.4	37	c.35	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	-	HMMPfam_Ras		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	protein_coding	OTTHUMT00000412232.1	C	NM_033360		25289551	-1	no_errors	NM_033360	genbank	human	reviewed	54_36p	missense	SNP	1	A
KBTBD7	84078	genome.wustl.edu	37	13	41767783	41767783	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1316-01A-01W-0494-09	TCGA-25-1316-10A-01W-0494-09	C	C	C	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	d75a0b16-04e4-4ba3-a695-132c5ace698b	491a7bb5-af4a-4503-a09d-6e7bb09f137c	g.chr13:41767783C>A	ENST00000379483.3	-	1	919	c.611G>T	c.(610-612)aGc>aTc	p.S204I		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	204								p.S204I(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		ACCCATTCGGCTGAGCTGCTT	0.552																																																1	Substitution - Missense(1)	ovary(1)	13											111.0	100.0	103.0					13																	41767783		2203	4300	6503	40665783	SO:0001583	missense	84078			AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.611G>T	13.37:g.41767783C>A	ENSP00000368797:p.Ser204Ile		40665783	B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	-	p.S204I	ENST00000379483.3	37	c.611	CCDS9377.1	13	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920099	0.52653	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	T	0.68479	-0.33	5.1	5.1	0.69264	BTB/Kelch-associated (2);	0.187595	0.46758	D	0.000272	T	0.71762	0.3378	M	0.68317	2.08	0.39767	D	0.972116	D	0.60575	0.988	P	0.50109	0.631	T	0.77595	-0.2529	10	0.72032	D	0.01	.	14.0314	0.64617	0.0:1.0:0.0:0.0	.	204	Q8WVZ9	KBTB7_HUMAN	I	204;106	ENSP00000368797:S204I	ENSP00000368797:S204I	S	-	2	0	KBTBD7	40665783	0.995000	0.38212	0.985000	0.45067	0.665000	0.39181	2.518000	0.45537	2.364000	0.80123	0.563000	0.77884	AGC	-	NULL		0.552	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD7	protein_coding	OTTHUMT00000044660.1	C	NM_032138		40665783	-1	no_errors	NM_032138	genbank	human	provisional	54_36p	missense	SNP	0.97	A
OR4L1	122742	genome.wustl.edu	37	14	20528253	20528253	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1316-01A-01W-0494-09	TCGA-25-1316-10A-01W-0494-09	T	T	T	C	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	d75a0b16-04e4-4ba3-a695-132c5ace698b	491a7bb5-af4a-4503-a09d-6e7bb09f137c	g.chr14:20528253T>C	ENST00000315683.1	+	1	50	c.50T>C	c.(49-51)tTt>tCt	p.F17S		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F17S(1)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TTACTAGGATTTTTTGGACGA	0.353																																																1	Substitution - Missense(1)	ovary(1)	14											151.0	160.0	157.0					14																	20528253		2203	4300	6503	19598093	SO:0001583	missense	122742				CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"""GPCR / Class A : Olfactory receptors"""	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.50T>C	14.37:g.20528253T>C	ENSP00000319217:p.Phe17Ser		19598093	Q6IEZ5	Missense_Mutation	SNP	-	p.F17S	ENST00000315683.1	37	c.50	CCDS32029.1	14	.	.	.	.	.	.	.	.	.	.	.	14.76	2.631573	0.46944	.	.	ENSG00000176246	ENST00000315683	T	0.06687	3.27	3.84	3.84	0.44239	.	0.426423	0.20101	N	0.099224	T	0.16514	0.0397	M	0.87456	2.885	0.21762	N	0.999559	P	0.40638	0.725	B	0.39971	0.315	T	0.12785	-1.0534	10	0.87932	D	0	.	10.9507	0.47327	0.0:0.0:0.0:1.0	.	17	Q8NH43	OR4L1_HUMAN	S	17	ENSP00000319217:F17S	ENSP00000319217:F17S	F	+	2	0	OR4L1	19598093	0.082000	0.21442	0.685000	0.30070	0.891000	0.51852	2.896000	0.48656	1.743000	0.51761	0.520000	0.50463	TTT	-	NULL		0.353	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4L1	protein_coding	OTTHUMT00000404381.1	T			19598093	1	no_errors	NM_001004717	genbank	human	provisional	54_36p	missense	SNP	0.23	C
ABCB11	8647	genome.wustl.edu	37	2	169791766	169791766	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1316-01A-01W-0494-09	TCGA-25-1316-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	d75a0b16-04e4-4ba3-a695-132c5ace698b	491a7bb5-af4a-4503-a09d-6e7bb09f137c	g.chr2:169791766G>A	ENST00000263817.6	-	23	3108	c.2984C>T	c.(2983-2985)gCg>gTg	p.A995V		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	995	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)	p.A995V(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	AGCAGAATTCGCAATAAACAT	0.448																																																1	Substitution - Missense(1)	ovary(1)	2											146.0	138.0	141.0					2																	169791766		1918	4137	6055	169500012	SO:0001583	missense	8647			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.2984C>T	2.37:g.169791766G>A	ENSP00000263817:p.Ala995Val		169500012	Q53TL2|Q9UNB2	Missense_Mutation	SNP	HMMPfam_ABC_membrane;HMMPfam_ABC_tran;superfamily_P-loop containing nucleoside triphosphate hydrolases;superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain	p.A995V	ENST00000263817.6	37	c.2984	CCDS46444.1	2	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574552	0.65878	.	.	ENSG00000073734	ENST00000263817	D	0.89196	-2.48	5.78	5.78	0.91487	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.096695	0.64402	D	0.000001	D	0.89413	0.6708	N	0.21282	0.65	0.80722	D	1	P;D	0.58268	0.908;0.982	P;P	0.58130	0.46;0.833	D	0.88426	0.3032	10	0.36615	T	0.2	.	20.0045	0.97432	0.0:0.0:1.0:0.0	.	437;995	B4DZQ8;O95342	.;ABCBB_HUMAN	V	995	ENSP00000263817:A995V	ENSP00000263817:A995V	A	-	2	0	ABCB11	169500012	1.000000	0.71417	0.885000	0.34714	0.035000	0.12851	9.869000	0.99810	2.729000	0.93468	0.655000	0.94253	GCG	-	HMMPfam_ABC_membrane		0.448	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB11	protein_coding	OTTHUMT00000333616.2	G	NM_003742		169500012	-1	no_errors	NM_003742	genbank	human	reviewed	54_36p	missense	SNP	1	A
DLGAP4	22839	genome.wustl.edu	37	20	35128068	35128068	+	Silent	SNP	G	G	A			TCGA-25-1316-01A-01W-0494-09	TCGA-25-1316-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	d75a0b16-04e4-4ba3-a695-132c5ace698b	491a7bb5-af4a-4503-a09d-6e7bb09f137c	g.chr20:35128068G>A	ENST00000373907.2	+	8	2287	c.2088G>A	c.(2086-2088)gaG>gaA	p.E696E	DLGAP4_ENST00000373913.3_Intron|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000401952.2_Intron|DLGAP4_ENST00000340491.4_Silent_p.E157E|DLGAP4_ENST00000339266.5_Silent_p.E696E			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	696					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TTCAGGTAGAGGACGACTGGC	0.582																																																0			20											71.0	65.0	67.0					20																	35128068		2203	4300	6503	34561482	SO:0001819	synonymous_variant	22839			AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.2088G>A	20.37:g.35128068G>A			34561482	E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Silent	SNP	-	p.E157	ENST00000373907.2	37	c.471		20																																																																																			-	NULL		0.582	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	DLGAP4	protein_coding	OTTHUMT00000079025.2	G	NM_014902		34561482	1	no_errors	NM_183006	genbank	human	reviewed	54_36p	silent	SNP	1	A
RSPH14	27156	genome.wustl.edu	37	22	23401715	23401715	+	Silent	SNP	G	G	A	rs149525500	byFrequency	TCGA-25-1316-01A-01W-0494-09	TCGA-25-1316-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	d75a0b16-04e4-4ba3-a695-132c5ace698b	491a7bb5-af4a-4503-a09d-6e7bb09f137c	g.chr22:23401715G>A	ENST00000216036.4	-	7	1168	c.972C>T	c.(970-972)taC>taT	p.Y324Y		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		324								p.Y324Y(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		GAGGCTTTTCGTAAGTCTCCA	0.607													G|||	2	0.000399361	0.0008	0.0	5008	,	,		17843	0.0		0.001	False		,,,				2504	0.0															1	Substitution - coding silent(1)	ovary(1)	22						G		1,4405	2.1+/-5.4	0,1,2202	109.0	104.0	106.0		972	-0.5	0.0	22	dbSNP_134	106	0,8600		0,0,4300	no	coding-synonymous	RTDR1	NM_014433.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		324/349	23401715	1,13005	2203	4300	6503	21731715	SO:0001819	synonymous_variant	27156																														ENST00000216036.4:c.972C>T	22.37:g.23401715G>A			21731715		Silent	SNP	HMMPfam_Arm;superfamily_ARM repeat	p.Y324	ENST00000216036.4	37	c.972	CCDS13803.1	22																																																																																			-	NULL		0.607	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTDR1	protein_coding	OTTHUMT00000319049.1	G			21731715	-1	no_errors	NM_014433	genbank	human	reviewed	54_36p	silent	SNP		A
SLC6A11	6538	genome.wustl.edu	37	3	10916711	10916711	+	Silent	SNP	G	G	A	rs144481019		TCGA-25-1316-01A-01W-0494-09	TCGA-25-1316-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	d75a0b16-04e4-4ba3-a695-132c5ace698b	491a7bb5-af4a-4503-a09d-6e7bb09f137c	g.chr3:10916711G>A	ENST00000254488.2	+	6	888	c.822G>A	c.(820-822)acG>acA	p.T274T		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	274					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)	p.T274T(2)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	GAGGGGTCACGTTGCCCGGGG	0.557																																																2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	3						G		0,4406		0,0,2203	212.0	188.0	196.0		822	-3.5	0.7	3	dbSNP_134	196	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	SLC6A11	NM_014229.1		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		274/633	10916711	4,13002	2203	4300	6503	10891711	SO:0001819	synonymous_variant	6538			S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.822G>A	3.37:g.10916711G>A			10891711	B2R6U6|Q8IYC9	Silent	SNP	HMMPfam_SNF;superfamily_S-adenosylmethionine decarboxylase	p.T274	ENST00000254488.2	37	c.822	CCDS2602.1	3																																																																																			-	HMMPfam_SNF		0.557	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A11	protein_coding	OTTHUMT00000251927.1	G	NM_014229		10891711	1	no_errors	NM_014229	genbank	human	provisional	54_36p	silent	SNP	0.82	A
FBXW7	55294	genome.wustl.edu	37	4	153247289	153247289	+	Missense_Mutation	SNP	G	G	A	rs149680468		TCGA-25-1316-01A-01W-0494-09	TCGA-25-1316-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	d75a0b16-04e4-4ba3-a695-132c5ace698b	491a7bb5-af4a-4503-a09d-6e7bb09f137c	g.chr4:153247289G>A	ENST00000281708.4	-	10	2742	c.1513C>T	c.(1513-1515)Cgc>Tgc	p.R505C	FBXW7_ENST00000393956.3_Missense_Mutation_p.R329C|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505C|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505C|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line). {ECO:0000269|PubMed:11565033, ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																		Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	139	Substitution - Missense(138)|Unknown(1)	haematopoietic_and_lymphoid_tissue(44)|large_intestine(26)|endometrium(20)|urinary_tract(15)|lung(15)|upper_aerodigestive_tract(8)|skin(8)|ovary(2)|biliary_tract(1)	4											167.0	156.0	160.0					4																	153247289		2203	4300	6503	153466739	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1513C>T	4.37:g.153247289G>A	ENSP00000281708:p.Arg505Cys		153466739	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	WD40;HMMPfam_WD40;F-box;HMMPfam_F-box	p.R505C	ENST00000281708.4	37	c.1513	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	G	18.90	3.722220	0.68959	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.61980	0.06;0.06;0.06;0.06	5.72	4.88	0.63580	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.101576	0.64402	D	0.000001	T	0.78679	0.4321	M	0.75085	2.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.81858	-0.0739	10	0.87932	D	0	-12.0024	15.0746	0.72066	0.0681:0.0:0.9319:0.0	.	329;505;387;425	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	C	505;387;425;329	ENSP00000281708:R505C;ENSP00000296555:R387C;ENSP00000263981:R425C;ENSP00000377528:R329C	ENSP00000263981:R425C	R	-	1	0	FBXW7	153466739	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	9.772000	0.98984	1.559000	0.49555	-0.145000	0.13849	CGC	-	HMMPfam_WD40		0.468	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	protein_coding	OTTHUMT00000469956.1	G			153466739	-1	no_errors	NM_033632	genbank	human	reviewed	54_36p	missense	SNP	1	A
CDH10	1008	genome.wustl.edu	37	5	24537498	24537498	+	Missense_Mutation	SNP	A	A	G			TCGA-25-1316-01A-01W-0494-09	TCGA-25-1316-10A-01W-0494-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	d75a0b16-04e4-4ba3-a695-132c5ace698b	491a7bb5-af4a-4503-a09d-6e7bb09f137c	g.chr5:24537498A>G	ENST00000264463.4	-	3	1024	c.517T>C	c.(517-519)Tct>Cct	p.S173P		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	173	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S173P(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CCTACAACAGACATTTCGGGA	0.318										HNSCC(23;0.051)																																						1	Substitution - Missense(1)	ovary(1)	5											129.0	135.0	133.0					5																	24537498		2203	4299	6502	24573255	SO:0001583	missense	1008			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.517T>C	5.37:g.24537498A>G	ENSP00000264463:p.Ser173Pro		24573255	Q9ULB3	Missense_Mutation	SNP	HMMPfam_Cadherin_C;HMMPfam_Cadherin;superfamily_Cadherin-like	p.S173P	ENST00000264463.4	37	c.517	CCDS3892.1	5	.	.	.	.	.	.	.	.	.	.	A	18.32	3.598028	0.66332	.	.	ENSG00000040731	ENST00000264463	T	0.53640	0.61	5.72	5.72	0.89469	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.74913	0.3779	M	0.91663	3.23	0.52501	D	0.999955	D	0.76494	0.999	D	0.76575	0.988	T	0.80991	-0.1135	10	0.66056	D	0.02	.	15.1742	0.72899	1.0:0.0:0.0:0.0	.	173	Q9Y6N8	CAD10_HUMAN	P	173	ENSP00000264463:S173P	ENSP00000264463:S173P	S	-	1	0	CDH10	24573255	1.000000	0.71417	1.000000	0.80357	0.487000	0.33371	7.306000	0.78905	2.181000	0.69327	0.455000	0.32223	TCT	-	HMMPfam_Cadherin		0.318	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	protein_coding	OTTHUMT00000207345.2	A	NM_006727		24573255	-1	no_errors	NM_006727	genbank	human	reviewed	54_36p	missense	SNP	1	G
ERGIC1	57222	genome.wustl.edu	37	5	172324048	172324048	+	Silent	SNP	G	G	A	rs543897451		TCGA-25-1316-01A-01W-0494-09	TCGA-25-1316-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	d75a0b16-04e4-4ba3-a695-132c5ace698b	491a7bb5-af4a-4503-a09d-6e7bb09f137c	g.chr5:172324048G>A	ENST00000393784.3	+	3	265	c.126G>A	c.(124-126)tcG>tcA	p.S42S	ERGIC1_ENST00000519860.1_3'UTR|ERGIC1_ENST00000523291.1_Silent_p.S42S	NM_001031711.2	NP_001026881.1	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1	42					ER to Golgi vesicle-mediated transport (GO:0006888)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.S42S(1)		endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCTTCCTCTCGGAGCTCACCG	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		19624	0.001		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	ovary(1)	5											255.0	195.0	215.0					5																	172324048		2203	4300	6503	172256654	SO:0001819	synonymous_variant	57222			AF267855	CCDS34292.1	5q35.1	2009-11-06			ENSG00000113719	ENSG00000113719			29205	protein-coding gene	gene with protein product						10574461, 15308636	Standard	NM_001031711		Approved	ERGIC32, ERGIC-32, KIAA1181, NET24	uc003mbw.4	Q969X5	OTTHUMG00000130520	ENST00000393784.3:c.126G>A	5.37:g.172324048G>A			172256654	Q9H0L0|Q9H2J2|Q9ULN9	Silent	SNP	-	p.S42	ENST00000393784.3	37	c.126	CCDS34292.1	5																																																																																			-	NULL		0.512	ERGIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERGIC1	protein_coding	OTTHUMT00000252938.3	G	NM_020462		172256654	1	no_errors	NM_001031711	genbank	human	reviewed	54_36p	silent	SNP	1	A
TRIM39	56658	genome.wustl.edu	37	6	30308086	30308086	+	Missense_Mutation	SNP	A	A	G			TCGA-25-1316-01A-01W-0494-09	TCGA-25-1316-10A-01W-0494-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	d75a0b16-04e4-4ba3-a695-132c5ace698b	491a7bb5-af4a-4503-a09d-6e7bb09f137c	g.chr6:30308086A>G	ENST00000396547.1	+	6	1001	c.841A>G	c.(841-843)Atc>Gtc	p.I281V	TRIM39_ENST00000396551.3_Intron|TRIM39_ENST00000396548.1_Intron|TRIM39_ENST00000540416.1_Intron|TRIM39_ENST00000376656.4_Missense_Mutation_p.I281V|TRIM39_ENST00000376659.5_Intron|TRIM39-RPP21_ENST00000513556.1_Intron			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	281					apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.I281V(1)		ovary(3)	3						ACTCTCAACGATCTGTCCACG	0.463																																																1	Substitution - Missense(1)	ovary(1)	6											67.0	64.0	65.0					6																	30308086		1510	2709	4219	30416065	SO:0001583	missense	56658			BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10065	protein-coding gene	gene with protein product		605700	"""ring finger protein 23"", ""tripartite motif-containing 39"""	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.841A>G	6.37:g.30308086A>G	ENSP00000379796:p.Ile281Val		30416065	Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Missense_Mutation	SNP	-	p.I281V	ENST00000396547.1	37	c.841	CCDS34377.1	6	.	.	.	.	.	.	.	.	.	.	A	6.486	0.457823	0.12342	.	.	ENSG00000204599	ENST00000376656;ENST00000545104;ENST00000396547	T;T	0.59772	0.24;0.24	5.14	-6.87	0.01671	.	2.202470	0.02330	N	0.073879	T	0.11495	0.0280	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.03566	-1.1024	10	0.14252	T	0.57	.	7.8173	0.29267	0.2589:0.3784:0.3627:0.0	.	281	Q9HCM9	TRI39_HUMAN	V	281	ENSP00000365844:I281V;ENSP00000379796:I281V	ENSP00000365844:I281V	I	+	1	0	TRIM39	30416065	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-1.040000	0.03546	-0.962000	0.03604	0.482000	0.46254	ATC	-	NULL		0.463	TRIM39-002	KNOWN	basic|CCDS	protein_coding	TRIM39	protein_coding	OTTHUMT00000076086.2	A	NM_172016		30416065	1	no_errors	NM_021253	genbank	human	reviewed	54_36p	missense	SNP		G
C2	717	genome.wustl.edu	37	6	31896508	31896508	+	Splice_Site	SNP	G	G	A			TCGA-25-1316-01A-01W-0494-09	TCGA-25-1316-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	d75a0b16-04e4-4ba3-a695-132c5ace698b	491a7bb5-af4a-4503-a09d-6e7bb09f137c	g.chr6:31896508G>A	ENST00000299367.5	+	3	532		c.e3-1		CFB_ENST00000456570.1_Intron|CFB_ENST00000477310.1_Splice_Site|C2_ENST00000452323.2_Intron|C2_ENST00000418949.2_Splice_Site|CFB_ENST00000556679.1_Intron|C2_ENST00000442278.2_Intron|C2_ENST00000469372.1_Intron	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.?(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		TCTCTCTCCAGCTGTGCGCTG	0.542																																																1	Unknown(1)	ovary(1)	6											79.0	79.0	79.0					6																	31896508		2203	4300	6503	32004487	SO:0001630	splice_region_variant	717				CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.257-1G>A	6.37:g.31896508G>A			32004487	B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Splice_Site	SNP	-	e3-1	ENST00000299367.5	37	c.257-1	CCDS4728.1	6	.	.	.	.	.	.	.	.	.	.	G	19.37	3.815492	0.70912	.	.	ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000244255	ENST00000413154;ENST00000299367;ENST00000418949;ENST00000477310	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2784	0.82657	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C2;XXbac-BPG116M5.17	32004487	1.000000	0.71417	0.998000	0.56505	0.912000	0.54170	5.098000	0.64548	2.588000	0.87417	0.491000	0.48974	.	-	-		0.542	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2	protein_coding	OTTHUMT00000076379.9	G		Intron	32004487	1	no_errors	NM_000063	genbank	human	reviewed	54_36p	splice_site	SNP	0.56	A
DST	667	genome.wustl.edu	37	6	56481863	56481863	+	Silent	SNP	C	C	T			TCGA-25-1316-01A-01W-0494-09	TCGA-25-1316-10A-01W-0494-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	d75a0b16-04e4-4ba3-a695-132c5ace698b	491a7bb5-af4a-4503-a09d-6e7bb09f137c	g.chr6:56481863C>T	ENST00000370765.6	-	24	6509	c.6402G>A	c.(6400-6402)acG>acA	p.T2134T	DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370788.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1891					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.T2134T(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGGTGGCTTTCGTCAGAAACT	0.423																																																1	Substitution - coding silent(1)	ovary(1)	6											49.0	50.0	50.0					6																	56481863		2203	4300	6503	56589822	SO:0001819	synonymous_variant	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.6402G>A	6.37:g.56481863C>T			56589822	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	-	p.T2134	ENST00000370765.6	37	c.6402	CCDS4959.1	6																																																																																			-	NULL		0.423	DST-010	KNOWN	basic|CCDS	protein_coding	DST	protein_coding	OTTHUMT00000041027.2	C	NM_001723		56589822	-1	no_errors	NM_001723	genbank	human	reviewed	54_36p	silent	SNP	0.74	T
ADCYAP1R1	117	genome.wustl.edu	37	7	31124409	31124409	+	Frame_Shift_Del	DEL	G	G	-			TCGA-25-1316-01A-01W-0494-09	TCGA-25-1316-10A-01W-0494-09	G	G	G	-	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	d75a0b16-04e4-4ba3-a695-132c5ace698b	491a7bb5-af4a-4503-a09d-6e7bb09f137c	g.chr7:31124409delG	ENST00000304166.4	+	8	785	c.496delG	c.(496-498)gtcfs	p.V166fs	ADCYAP1R1_ENST00000409363.1_Frame_Shift_Del_p.V145fs|ADCYAP1R1_ENST00000409489.1_Frame_Shift_Del_p.V166fs|ADCYAP1R1_ENST00000396211.2_Frame_Shift_Del_p.V166fs	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	166					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)	p.V166fs*25(1)		endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CACATCCCTCGTCACCCTCAC	0.557																																					Ovarian(44;225 1186 2158 11092)											1	Deletion - Frameshift(1)	ovary(1)	7											292.0	215.0	241.0					7																	31124409		2203	4300	6503	31090934	SO:0001589	frameshift_variant	117				CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.496delG	7.37:g.31124409delG	ENSP00000306620:p.Val166fs		31090934	A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Frame_Shift_Del	DEL	HMMPfam_7tm_2;HMMPfam_HRM;superfamily_Hormone receptor domain (HRM Pfam 02793);superfamily_Family A G protein-coupled receptor-like	p.V166fs	ENST00000304166.4	37	c.496	CCDS5433.1	7																																																																																			(deletion:cds_exon[31090877;31090974])	HMMPfam_7tm_2		0.557	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADCYAP1R1	protein_coding	OTTHUMT00000215041.3	G	NM_001118		31090934	1	no_errors	NM_001118	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1	-
PTPRN2	5799	genome.wustl.edu	37	7	157361628	157361628	+	Silent	SNP	G	G	A			TCGA-25-1316-01A-01W-0494-09	TCGA-25-1316-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	d75a0b16-04e4-4ba3-a695-132c5ace698b	491a7bb5-af4a-4503-a09d-6e7bb09f137c	g.chr7:157361628G>A	ENST00000389418.4	-	21	2877	c.2868C>T	c.(2866-2868)gtC>gtT	p.V956V	PTPRN2_ENST00000389416.4_Silent_p.V939V|PTPRN2_ENST00000389413.3_Silent_p.V927V|PTPRN2_ENST00000404321.2_Silent_p.V979V|PTPRN2_ENST00000409483.1_Silent_p.V918V	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	956	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.V956V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TGTCGATCAGGACGTAGGTGC	0.572																																																1	Substitution - coding silent(1)	ovary(1)	7											154.0	117.0	129.0					7																	157361628		2203	4300	6503	157054389	SO:0001819	synonymous_variant	5799			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.2868C>T	7.37:g.157361628G>A			157054389	E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Silent	SNP	HMMPfam_Y_phosphatase;superfamily_(Phosphotyrosine protein) phosphatases II	p.V956	ENST00000389418.4	37	c.2868	CCDS5947.1	7																																																																																			-	HMMPfam_Y_phosphatase		0.572	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTPRN2	protein_coding	OTTHUMT00000353214.1	G			157054389	-1	no_errors	NM_002847	genbank	human	reviewed	54_36p	silent	SNP	1	A
CDH17	1015	genome.wustl.edu	37	8	95188826	95188826	+	Nonsense_Mutation	SNP	G	G	A			TCGA-25-1316-01A-01W-0494-09	TCGA-25-1316-10A-01W-0494-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	d75a0b16-04e4-4ba3-a695-132c5ace698b	491a7bb5-af4a-4503-a09d-6e7bb09f137c	g.chr8:95188826G>A	ENST00000027335.3	-	5	491	c.367C>T	c.(367-369)Cga>Tga	p.R123*	CDH17_ENST00000450165.2_Nonsense_Mutation_p.R123*|CDH17_ENST00000441892.2_Nonsense_Mutation_p.R123*	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	123	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)	p.R123*(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			AACGTGGGTCGATTGTCGTTG	0.493																																																1	Substitution - Nonsense(1)	ovary(1)	8											255.0	214.0	228.0					8																	95188826		2203	4300	6503	95258002	SO:0001587	stop_gained	1015			X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.367C>T	8.37:g.95188826G>A	ENSP00000027335:p.Arg123*		95258002	Q15336|Q2M2E0	Nonsense_Mutation	SNP	HMMPfam_Cadherin;superfamily_Cadherin-like	p.R123*	ENST00000027335.3	37	c.367	CCDS6260.1	8	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102552	0.56183	.	.	ENSG00000079112	ENST00000027335;ENST00000441892;ENST00000450165;ENST00000521491	.	.	.	5.93	4.08	0.47627	.	0.399497	0.19197	N	0.120300	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-3.2735	14.2229	0.65839	0.0:0.0:0.7275:0.2725	.	.	.	.	X	123	.	ENSP00000027335:R123X	R	-	1	2	CDH17	95258002	0.712000	0.27916	0.831000	0.32960	0.020000	0.10135	1.568000	0.36418	0.792000	0.33850	-0.182000	0.12963	CGA	-	NULL		0.493	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH17	protein_coding	OTTHUMT00000378560.1	G	NM_004063		95258002	-1	no_errors	NM_004063	genbank	human	reviewed	54_36p	nonsense	SNP	0.27	A
SLC39A6	25800	genome.wustl.edu	37	18	33702138	33702139	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-25-1316-01A-01W-0494-09	TCGA-25-1316-10A-01W-0494-09	TA	TA	TA	-	TA	TA	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	d75a0b16-04e4-4ba3-a695-132c5ace698b	491a7bb5-af4a-4503-a09d-6e7bb09f137c	g.chr18:33702138_33702139delTA	ENST00000590986.1	-	5	1524_1525	c.1235_1236delTA	c.(1234-1236)atafs	p.I412fs	SLC39A6_ENST00000440549.2_Frame_Shift_Del_p.I137fs|SLC39A6_ENST00000269187.5_Frame_Shift_Del_p.I412fs			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	412					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)	p.I412K(1)|p.I412fs*7(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						CACTTTCTTCTATGTTTTGAGA	0.416																																																2	Substitution - Missense(1)|Deletion - Frameshift(1)	ovary(1)|lung(1)	18							,	8,3612		4,0,1806					,	4.3	1.0			189	17,7877		8,1,3938	no	frameshift,frameshift	SLC39A6	NM_012319.3,NM_001099406.1	,	12,1,5744	A1A1,A1R,RR		0.2154,0.221,0.2171	,	,		25,11489				31956137	SO:0001589	frameshift_variant	25800			U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"""Solute carriers"""	18607	protein-coding gene	gene with protein product		608731	"""solute carrier family 39 (metal ion transporter), member 6"""			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.1235_1236delTA	18.37:g.33702138_33702139delTA	ENSP00000465915:p.Ile412fs		31956136	B4DR49|B4E224|Q8IXR3|Q96HP5	Frame_Shift_Del	DEL	HMMPfam_Zip	p.I412fs	ENST00000590986.1	37	c.1236_1235	CCDS42428.1	18																																																																																			(deletion:cds_exon[31956013;31956231])	HMMPfam_Zip		0.416	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	SLC39A6	protein_coding	OTTHUMT00000444136.1	TA			31956137	-1	no_errors	NM_012319	genbank	human	validated	54_36p	frame_shift_del	DEL	0.981:0.972	-
