#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_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_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_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count
ATF7IP2	80063	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	10524502	10524502	+	Missense_Mutation	SNP	C	C	T	rs140651559		TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr16:10524502C>T	ENST00000396560.2	+	3	252	c.25C>T	c.(25-27)Cgg>Tgg	p.R9W	ATF7IP2_ENST00000396559.1_Missense_Mutation_p.R9W|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.R9W|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.R9W|ATF7IP2_ENST00000543967.1_Intron	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	9					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						TAGAAGTAAACGGAAGATATT	0.348																																																0								C	TRP/ARG	1,4393	2.1+/-5.4	0,1,2196	64.0	62.0	62.0		25	2.7	0.8	16	dbSNP_134	62	1,8597	1.2+/-3.3	0,1,4298	yes	missense	ATF7IP2	NM_024997.2	101	0,2,6494	TT,TC,CC		0.0116,0.0228,0.0154	probably-damaging	9/683	10524502	2,12990	2197	4299	6496	SO:0001583	missense	80063			AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.25C>T	16.37:g.10524502C>T	ENSP00000379808:p.Arg9Trp		B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	ENST00000396560.2	37	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.164247	0.57476	2.28E-4	1.16E-4	ENSG00000166669	ENST00000396559;ENST00000396560;ENST00000535850;ENST00000356427;ENST00000324570	T;T	0.30714	1.52;1.52	4.73	2.67	0.31697	.	0.325526	0.21983	N	0.066280	T	0.42539	0.1207	L	0.44542	1.39	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.68483	0.958;0.95	T	0.16928	-1.0386	10	0.87932	D	0	-0.1419	9.5374	0.39231	0.384:0.616:0.0:0.0	.	9;9	Q5U623-2;Q5U623	.;MCAF2_HUMAN	W	9	ENSP00000379808:R9W;ENSP00000348799:R9W	ENSP00000322811:R9W	R	+	1	2	ATF7IP2	10432003	0.611000	0.26992	0.763000	0.31416	0.967000	0.64934	0.902000	0.28459	0.534000	0.28695	0.467000	0.42956	CGG		0.348	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997		9	44	9	44
CDH1	999	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	68846137	68846137	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr16:68846137G>A	ENST00000261769.5	+	8	1299	c.1108G>A	c.(1108-1110)Gat>Aat	p.D370N	CDH1_ENST00000422392.2_Missense_Mutation_p.D370N|CDH1_ENST00000562836.1_3'UTR|RP11-354M1.2_ENST00000563916.1_RNA	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	370	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.		D -> A (in a diffuse gastric cancer sample). {ECO:0000269|PubMed:8033105}.		adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.D370H(3)|p.S337_T379del(1)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TGACACCAACGATAATCCTCC	0.458			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	5	Substitution - Missense(3)|Unknown(1)|Deletion - In frame(1)	stomach(4)|breast(1)											173.0	134.0	147.0					16																	68846137		2198	4300	6498	SO:0001583	missense	999	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1108G>A	16.37:g.68846137G>A	ENSP00000261769:p.Asp370Asn		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.197295	0.79015	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.65549	-0.08;-0.16	5.72	5.72	0.89469	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.52532	D	0.000072	D	0.82774	0.5110	M	0.87038	2.855	0.58432	D	0.999998	P;D	0.89917	0.905;1.0	P;D	0.77557	0.524;0.99	D	0.84769	0.0766	10	0.66056	D	0.02	.	19.4813	0.95011	0.0:0.0:1.0:0.0	.	370;370	Q9UII8;P12830	.;CADH1_HUMAN	N	370	ENSP00000261769:D370N;ENSP00000414946:D370N	ENSP00000261769:D370N	D	+	1	0	CDH1	67403638	1.000000	0.71417	0.976000	0.42696	0.060000	0.15804	9.416000	0.97383	2.712000	0.92718	0.555000	0.69702	GAT		0.458	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		20	63	20	63
MED1	5469	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	37565209	37565209	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr17:37565209C>T	ENST00000300651.6	-	17	3488	c.3265G>A	c.(3265-3267)Gtg>Atg	p.V1089M	CTB-131K11.1_ENST00000582842.1_RNA|MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GAGGAAGACACAGAACCACTG	0.488										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)											0													91.0	87.0	88.0					17																	37565209		2203	4300	6503	SO:0001583	missense	5469			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.3265G>A	17.37:g.37565209C>T	ENSP00000300651:p.Val1089Met		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	C	9.716	1.158439	0.21454	.	.	ENSG00000125686	ENST00000300651	T	0.32753	1.44	5.87	4.91	0.64330	.	.	.	.	.	T	0.19525	0.0469	N	0.14661	0.345	0.35651	D	0.811784	B	0.14012	0.009	B	0.06405	0.002	T	0.12400	-1.0549	9	0.56958	D	0.05	-3.9687	11.2449	0.48991	0.0:0.8609:0.0:0.1391	.	1089	Q15648	MED1_HUMAN	M	1089	ENSP00000300651:V1089M	ENSP00000300651:V1089M	V	-	1	0	MED1	34818735	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	2.543000	0.45752	1.633000	0.50488	0.655000	0.94253	GTG		0.488	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		21	78	21	78
KIAA1324	57535	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	109716150	109716150	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr1:109716150G>A	ENST00000369939.3	+	6	934	c.751G>A	c.(751-753)Gta>Ata	p.V251I	KIAA1324_ENST00000529753.1_Missense_Mutation_p.V251I	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	251					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		AGCCTTCTCAGTATGGACCAA	0.453																																																0													171.0	152.0	159.0					1																	109716150		2203	4300	6503	SO:0001583	missense	57535			AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.751G>A	1.37:g.109716150G>A	ENSP00000358955:p.Val251Ile		Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	ENST00000369939.3	37	CCDS794.1	.	.	.	.	.	.	.	.	.	.	g	6.037	0.375217	0.11409	.	.	ENSG00000116299	ENST00000369939;ENST00000457623;ENST00000529753	T;T;T	0.29397	1.57;1.57;1.57	5.1	4.15	0.48705	.	0.232106	0.36555	N	0.002534	T	0.15305	0.0369	L	0.39898	1.24	0.19575	N	0.999961	P;B;P;P	0.49090	0.841;0.4;0.919;0.838	B;B;P;B	0.46659	0.441;0.121;0.523;0.437	T	0.06552	-1.0820	10	0.21014	T	0.42	-9.242	12.527	0.56091	0.0:0.0:0.7018:0.2982	.	251;251;251;251	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	I	251	ENSP00000358955:V251I;ENSP00000393964:V251I;ENSP00000434595:V251I	ENSP00000358955:V251I	V	+	1	0	KIAA1324	109517673	0.559000	0.26562	1.000000	0.80357	0.454000	0.32378	0.952000	0.29149	2.383000	0.81215	0.645000	0.84053	GTA		0.453	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		15	83	15	83
FCRL5	83416	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	157490931	157490931	+	Silent	SNP	C	C	T			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr1:157490931C>T	ENST00000361835.3	-	11	2548	c.2391G>A	c.(2389-2391)tcG>tcA	p.S797S	FCRL5_ENST00000356953.4_Silent_p.S797S|FCRL5_ENST00000461387.1_5'UTR	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	797	Ig-like C2-type 8.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CAGAGGGGGACGACCTATTTC	0.592																																																0													75.0	81.0	79.0					1																	157490931		2203	4300	6503	SO:0001819	synonymous_variant	83416			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2391G>A	1.37:g.157490931C>T			A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Silent	SNP	ENST00000361835.3	37	CCDS1165.1																																																																																				0.592	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		29	121	29	121
PEA15	8682	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	160181386	160181386	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr1:160181386G>T	ENST00000360472.4	+	2	240	c.52G>T	c.(52-54)Gaa>Taa	p.E18*	PEA15_ENST00000368077.1_Nonsense_Mutation_p.E18*|PEA15_ENST00000488858.1_3'UTR|RP11-536C5.7_ENST00000418602.1_RNA|PEA15_ENST00000368076.1_Nonsense_Mutation_p.E39*	NM_003768.3	NP_003759.1	Q15121	PEA15_HUMAN	phosphoprotein enriched in astrocytes 15	18	DED. {ECO:0000255|PROSITE- ProRule:PRU00065}.				apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|DNA damage checkpoint (GO:0000077)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of glucose import (GO:0046325)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|response to morphine (GO:0043278)|transport (GO:0006810)	cytoplasm (GO:0005737)|microtubule associated complex (GO:0005875)				large_intestine(1)|lung(4)	5	all_cancers(52;3.11e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATCACCCTTGAAGATCTAGA	0.532																																																0													134.0	111.0	119.0					1																	160181386		2203	4300	6503	SO:0001587	stop_gained	8682			Y13736	CCDS1199.1, CCDS72954.1	1q21.1	2008-07-18			ENSG00000162734	ENSG00000162734			8822	protein-coding gene	gene with protein product	"""Phosphoprotein enriched in astrocytes, 15kD"", ""homolog of mouse MAT-1 oncogene"""	603434				9205133	Standard	XM_005245564		Approved	HMAT1, MAT1, PED, PEA-15, MAT1H, HUMMAT1H	uc001fvk.3	Q15121	OTTHUMG00000031605	ENST00000360472.4:c.52G>T	1.37:g.160181386G>T	ENSP00000353660:p.Glu18*		B1AKZ3|O00511	Nonsense_Mutation	SNP	ENST00000360472.4	37	CCDS1199.1	.	.	.	.	.	.	.	.	.	.	G	36	5.787098	0.96937	.	.	ENSG00000162734	ENST00000360472;ENST00000368077;ENST00000368076	.	.	.	4.77	3.83	0.44106	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-20.7812	12.5554	0.56250	0.0853:0.0:0.9147:0.0	.	.	.	.	X	18;18;39	.	ENSP00000353660:E18X	E	+	1	0	PEA15	158448010	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.890000	0.75633	2.493000	0.84123	0.555000	0.69702	GAA		0.532	PEA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077407.1	NM_003768		16	119	16	119
PCBP1	5093	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	70315908	70315908	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr2:70315908G>C	ENST00000303577.5	+	1	1324	c.1033G>C	c.(1033-1035)Gcc>Ccc	p.A345P	PCBP1-AS1_ENST00000444320.1_RNA|PCBP1-AS1_ENST00000449178.1_RNA|PCBP1-AS1_ENST00000422515.1_RNA|PCBP1-AS1_ENST00000420309.1_RNA|PCBP1-AS1_ENST00000594548.1_RNA|PCBP1-AS1_ENST00000434781.1_RNA|PCBP1-AS1_ENST00000429599.2_RNA|PCBP1-AS1_ENST00000411429.1_RNA|PCBP1-AS1_ENST00000444410.1_RNA|AC016700.2_ENST00000455541.1_lincRNA|PCBP1-AS1_ENST00000457770.1_RNA|PCBP1-AS1_ENST00000413791.1_RNA|PCBP1-AS1_ENST00000599673.1_RNA|PCBP1-AS1_ENST00000439670.2_RNA|PCBP1-AS1_ENST00000609075.1_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000595459.1_RNA|PCBP1-AS1_ENST00000439892.1_RNA|PCBP1-AS1_ENST00000601396.1_RNA|PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000415742.1_RNA|PCBP1-AS1_ENST00000432604.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000437019.1_RNA|PCBP1-AS1_ENST00000442040.1_RNA|PCBP1-AS1_ENST00000596665.1_RNA|PCBP1-AS1_ENST00000415060.2_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000416395.1_RNA|PCBP1-AS1_ENST00000413069.1_RNA|PCBP1-AS1_ENST00000610168.1_RNA|PCBP1-AS1_ENST00000421843.1_RNA|PCBP1-AS1_ENST00000596573.1_RNA|PCBP1-AS1_ENST00000458686.1_RNA|PCBP1-AS1_ENST00000425601.1_RNA|PCBP1-AS1_ENST00000366234.3_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000416068.1_RNA|PCBP1-AS1_ENST00000458698.2_RNA|PCBP1-AS1_ENST00000418308.1_RNA|PCBP1-AS1_ENST00000437456.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000419963.1_RNA|PCBP1-AS1_ENST00000425333.1_RNA|PCBP1-AS1_ENST00000456161.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	345					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						TCTAATCAATGCCAGGCTTTC	0.498																																					Colon(85;1146 1307 3484 18706 25380)											0													35.0	37.0	36.0					2																	70315908		2203	4300	6503	SO:0001583	missense	5093				CCDS1898.1	2p13-p12	2013-07-16	2001-11-28		ENSG00000169564	ENSG00000169564			8647	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein E1"""	601209	"""poly(rC)-binding protein 1"""			8833161	Standard	NM_006196		Approved	HNRPE1, hnRNP-E1, HNRPX, hnRNP-X	uc002sgf.3	Q15365	OTTHUMG00000129645	ENST00000303577.5:c.1033G>C	2.37:g.70315908G>C	ENSP00000305556:p.Ala345Pro		Q13157|Q14975	Missense_Mutation	SNP	ENST00000303577.5	37	CCDS1898.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747685	0.69533	.	.	ENSG00000169564	ENST00000303577	T	0.33865	1.39	3.66	3.66	0.41972	K Homology (1);	0.133205	0.49916	D	0.000127	T	0.53465	0.1798	M	0.77820	2.39	0.58432	D	0.999998	D	0.56746	0.977	P	0.58266	0.836	T	0.54309	-0.8313	10	0.33141	T	0.24	.	13.6516	0.62314	0.0:0.0:1.0:0.0	.	345	Q15365	PCBP1_HUMAN	P	345	ENSP00000305556:A345P	ENSP00000305556:A345P	A	+	1	0	PCBP1	70169412	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.512000	0.98008	2.345000	0.79718	0.563000	0.77884	GCC		0.498	PCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251844.1	NM_006196		13	40	13	40
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	179500810	179500810	+	Missense_Mutation	SNP	C	C	T	rs149059189		TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr2:179500810C>T	ENST00000591111.1	-	176	36789	c.36565G>A	c.(36565-36567)Gtc>Atc	p.V12189I	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V13830I|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V11262I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V4957I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V4890I|TTN_ENST00000460472.2_Missense_Mutation_p.V4765I			Q8WZ42	TITIN_HUMAN	titin	12189	Ig-like 81.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGCCAATGACGCCTGGCACA	0.512													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17548	0.0		0.0	False		,,,				2504	0.0															0								C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	5,4073		0,5,2034	87.0	90.0	89.0		14869,14668,33784,14293	-0.1	0.0	2	dbSNP_134	89	0,8364		0,0,4182	no	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	29,29,29,29	0,5,6216	TT,TC,CC		0.0,0.1226,0.0402	benign,benign,benign,benign	4957/27119,4890/27052,11262/33424,4765/26927	179500810	5,12437	2039	4182	6221	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.36565G>A	2.37:g.179500810C>T	ENSP00000465570:p.Val12189Ile		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	5.187	0.220128	0.09863	0.001226	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.04758	3.56;3.56;3.56;3.56	5.8	-0.0788	0.13713	Immunoglobulin subtype (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03915	0.0110	N	0.17474	0.49	0.19775	N	0.999951	B;B;B;B	0.16802	0.019;0.019;0.019;0.019	B;B;B;B	0.12156	0.007;0.007;0.007;0.007	T	0.39761	-0.9598	9	0.87932	D	0	.	12.0671	0.53594	0.0:0.5175:0.0:0.4825	.	4765;4890;4957;12189	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	11262;4765;4957;4890;4765	ENSP00000343764:V11262I;ENSP00000434586:V4765I;ENSP00000340554:V4957I;ENSP00000352154:V4890I	ENSP00000340554:V4957I	V	-	1	0	TTN	179209055	0.003000	0.15002	0.015000	0.15790	0.197000	0.23852	0.055000	0.14229	-0.306000	0.08818	-0.237000	0.12165	GTC		0.512	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		17	76	17	76
AOX1	316	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	201478596	201478596	+	Silent	SNP	G	G	A			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr2:201478596G>A	ENST00000374700.2	+	15	1759	c.1518G>A	c.(1516-1518)tcG>tcA	p.S506S	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	506					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TTTTGGGCTCGGCGCCAGGTG	0.473																																																0													94.0	90.0	92.0					2																	201478596		2203	4300	6503	SO:0001819	synonymous_variant	316			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.1518G>A	2.37:g.201478596G>A			O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Silent	SNP	ENST00000374700.2	37	CCDS33360.1																																																																																				0.473	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		11	38	11	38
NRP2	8828	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	206605324	206605324	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr2:206605324C>T	ENST00000357785.5	+	8	1259	c.1228C>T	c.(1228-1230)Cgc>Tgc	p.R410C	NRP2_ENST00000412873.2_Missense_Mutation_p.R410C|NRP2_ENST00000540178.1_Missense_Mutation_p.R410C|NRP2_ENST00000272849.3_Missense_Mutation_p.R410C|NRP2_ENST00000355117.4_Missense_Mutation_p.R410C|NRP2_ENST00000360409.3_Missense_Mutation_p.R410C|NRP2_ENST00000417189.1_Missense_Mutation_p.R410C|NRP2_ENST00000357118.4_Missense_Mutation_p.R410C|NRP2_ENST00000540841.1_Missense_Mutation_p.R410C			Q99435	NELL2_HUMAN	neuropilin 2	0	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.R410C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TGTTAGAATCCGCCCTCAGAC	0.557																																																1	Substitution - Missense(1)	prostate(1)											127.0	106.0	113.0					2																	206605324		2203	4300	6503	SO:0001583	missense	8828			AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.1228C>T	2.37:g.206605324C>T	ENSP00000350432:p.Arg410Cys		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.780182	0.70222	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	D;D;D;D;D;D;D;D;D	0.97303	-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33	5.97	5.1	0.69264	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.97851	0.9294	L	0.60904	1.88	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.998;0.998;0.999;0.996;0.996;0.993	D	0.98708	1.0703	10	0.72032	D	0.01	-25.332	15.1719	0.72881	0.0:0.9326:0.0:0.0674	.	410;410;410;410;410;410	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	C	410	ENSP00000353582:R410C;ENSP00000439658:R410C;ENSP00000439261:R410C;ENSP00000347238:R410C;ENSP00000387519:R410C;ENSP00000349632:R410C;ENSP00000350432:R410C;ENSP00000407626:R410C;ENSP00000272849:R410C	ENSP00000272849:R410C	R	+	1	0	NRP2	206313569	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	2.780000	0.47742	1.546000	0.49388	-0.136000	0.14681	CGC		0.557	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			20	76	20	76
ADD1	118	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	2877687	2877687	+	Silent	SNP	G	G	A	rs140936293	byFrequency	TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr4:2877687G>A	ENST00000398129.1	+	1	65	c.45G>A	c.(43-45)ccG>ccA	p.P15P	ADD1_ENST00000513328.2_Silent_p.P15P|ADD1_ENST00000398125.1_Silent_p.P15P|ADD1_ENST00000355842.3_Silent_p.P15P|ADD1_ENST00000398123.2_Silent_p.P15P|ADD1_ENST00000446856.1_Silent_p.P15P|ADD1_ENST00000503455.2_Silent_p.P15P|ADD1_ENST00000264758.7_Silent_p.P15P			P35611	ADDA_HUMAN	adducin 1 (alpha)	15					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CACCACCCCCGACCACAGCCC	0.478																																					Esophageal Squamous(71;505 1201 20414 34538 37449)											0													126.0	132.0	130.0					4																	2877687		2203	4300	6503	SO:0001819	synonymous_variant	118			L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.45G>A	4.37:g.2877687G>A			A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Silent	SNP	ENST00000398129.1	37	CCDS43205.1																																																																																				0.478	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242840.1	NM_014189		24	159	24	159
NFXL1	152518	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	47850315	47850315	+	Silent	SNP	A	A	T			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr4:47850315A>T	ENST00000507489.1	-	23	2777	c.2601T>A	c.(2599-2601)cgT>cgA	p.R867R	NFXL1_ENST00000381538.3_Silent_p.R867R	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	867						integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						TCTTCTTCCGACGACCCTTCA	0.348																																																0													144.0	138.0	140.0					4																	47850315		2203	4300	6503	SO:0001819	synonymous_variant	152518			AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"""ovarian zinc finger protein"""						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.2601T>A	4.37:g.47850315A>T			B1Q2K1|Q86VG1|Q8WVH1	Silent	SNP	ENST00000507489.1	37	CCDS3478.2																																																																																				0.348	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361636.1	NM_152995		7	32	7	32
TMEM150C	441027	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	83417256	83417256	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr4:83417256C>T	ENST00000515780.2	-	6	532	c.328G>A	c.(328-330)Gct>Act	p.A110T	RP11-791G16.2_ENST00000488045.1_RNA|TMEM150C_ENST00000449862.2_Missense_Mutation_p.A110T|TMEM150C_ENST00000508701.1_Missense_Mutation_p.A110T			B9EJG8	T150C_HUMAN	transmembrane protein 150C	110						integral component of membrane (GO:0016021)				ovary(1)	1						CCGAAGGAAGCCAGACACAGA	0.453																																																0													93.0	95.0	95.0					4																	83417256		1917	4136	6053	SO:0001583	missense	441027			BC147027	CCDS47087.1	4q21.22	2010-06-25			ENSG00000249242	ENSG00000249242			37263	protein-coding gene	gene with protein product							Standard	NM_001080506		Approved	FLJ12993	uc003hmy.1	B9EJG8	OTTHUMG00000161083	ENST00000515780.2:c.328G>A	4.37:g.83417256C>T	ENSP00000420919:p.Ala110Thr		B7Z4J5|B7Z4L3|B7Z692|B7Z6X6	Missense_Mutation	SNP	ENST00000515780.2	37	CCDS47087.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857581	0.51376	.	.	ENSG00000249242	ENST00000449862;ENST00000515780;ENST00000508701	T;T;T	0.43688	0.94;0.94;0.94	5.59	4.74	0.60224	.	.	.	.	.	T	0.25827	0.0629	N	0.20986	0.625	0.40503	D	0.980661	B;B	0.23377	0.084;0.021	B;B	0.18561	0.022;0.013	T	0.08229	-1.0732	9	0.16420	T	0.52	-6.5083	9.2741	0.37690	0.1461:0.7819:0.0:0.072	.	110;110	B9EJG8-2;B9EJG8	.;T150C_HUMAN	T	110	ENSP00000403438:A110T;ENSP00000420919:A110T;ENSP00000421812:A110T	ENSP00000403438:A110T	A	-	1	0	TMEM150C	83636280	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.050000	0.41297	1.333000	0.45449	0.305000	0.20034	GCT		0.453	TMEM150C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363685.2	NM_001080506		13	94	13	94
KIAA1109	84162	hgsc.bcm.edu;ucsc.edu	37	4	123239396	123239396	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr4:123239396C>T	ENST00000264501.4	+	63	11138	c.10765C>T	c.(10765-10767)Cgt>Tgt	p.R3589C	KIAA1109_ENST00000388738.3_Missense_Mutation_p.R3589C|KIAA1109_ENST00000455637.1_Missense_Mutation_p.R3589C			Q2LD37	K1109_HUMAN	KIAA1109	3589					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)		p.R3589C(1)		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						AAGAGATGTTCGTAAAAAATT	0.393																																																1	Substitution - Missense(1)	lung(1)											147.0	143.0	144.0					4																	123239396		1860	4100	5960	SO:0001583	missense	84162			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.10765C>T	4.37:g.123239396C>T	ENSP00000264501:p.Arg3589Cys		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.9|21.9	4.217018|4.217018	0.79352|0.79352	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637;ENST00000438707|ENST00000419325	T;T;T;T|.	0.35973|.	2.4;2.4;1.81;1.28|.	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	0.000000|.	0.64402|.	D|.	0.000003|.	T|T	0.67487|0.67487	0.2898|0.2898	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.77557|.	0.988;0.99|.	T|T	0.64914|0.64914	-0.6295|-0.6295	10|5	0.66056|.	D|.	0.02|.	.|.	16.6732|16.6732	0.85271|0.85271	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3589;3589|.	Q2LD37-6;Q2LD37|.	.;K1109_HUMAN|.	C|L	3589;3589;3589;272|1546	ENSP00000264501:R3589C;ENSP00000373390:R3589C;ENSP00000389925:R3589C;ENSP00000410874:R272C|.	ENSP00000264501:R3589C|.	R|S	+|+	1|2	0|0	KIAA1109|KIAA1109	123458846|123458846	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.996000|0.996000	0.88848|0.88848	3.872000|3.872000	0.56085|0.56085	2.372000|2.372000	0.80975|0.80975	0.650000|0.650000	0.86243|0.86243	CGT|TCG		0.393	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		7	77	7	77
DCLK2	166614	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	151153904	151153904	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr4:151153904A>G	ENST00000296550.7	+	10	2244	c.1490A>G	c.(1489-1491)tAc>tGc	p.Y497C	DCLK2_ENST00000506325.1_Missense_Mutation_p.Y496C|DCLK2_ENST00000302176.8_Missense_Mutation_p.Y514C	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	497	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GCCATGGTGTACAACTTAGCC	0.448																																					GBM(195;186 2215 13375 16801 37459)											0													269.0	232.0	245.0					4																	151153904		2203	4300	6503	SO:0001583	missense	166614			BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"""doublecortin and CaM kinase-like 2"""	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.1490A>G	4.37:g.151153904A>G	ENSP00000296550:p.Tyr497Cys		C9J5Q9|Q59GC8|Q8N399	Missense_Mutation	SNP	ENST00000296550.7	37	CCDS34076.1	.	.	.	.	.	.	.	.	.	.	A	14.40	2.524659	0.44969	.	.	ENSG00000170390	ENST00000296550;ENST00000506325;ENST00000302176	T;T;T	0.40476	1.03;1.03;1.03	6.02	4.83	0.62350	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.175198	0.52532	D	0.000062	T	0.44705	0.1306	L	0.28014	0.82	0.50171	D	0.999852	D;D;B	0.63046	0.991;0.992;0.033	P;P;B	0.57324	0.818;0.794;0.091	T	0.31943	-0.9925	10	0.40728	T	0.16	.	12.7123	0.57096	0.8766:0.0:0.0:0.1234	.	514;496;497	Q8N568-3;Q8N568-2;Q8N568	.;.;DCLK2_HUMAN	C	497;496;514	ENSP00000296550:Y497C;ENSP00000427235:Y496C;ENSP00000303887:Y514C	ENSP00000296550:Y497C	Y	+	2	0	DCLK2	151373354	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.126000	0.64721	1.080000	0.41073	0.533000	0.62120	TAC		0.448	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364952.1	NM_001040260		29	157	29	157
SREK1	140890	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	65460676	65460676	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr5:65460676T>A	ENST00000380918.3	+	8	1264	c.604T>A	c.(604-606)Tct>Act	p.S202T	SREK1_ENST00000284041.3_3'UTR|SREK1_ENST00000334121.6_Missense_Mutation_p.S318T	NM_139168.3	NP_631907.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1	202	Arg/Glu/Lys/Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						AAAATCCAGGTCTAGCTCAAA	0.368																																					GBM(10;31 347 27684 38976 41583)											0													117.0	117.0	117.0					5																	65460676		2203	4300	6503	SO:0001583	missense	140890			AF459094	CCDS3991.1, CCDS43323.1, CCDS75253.1	5q11.2-q12.1	2013-02-12	2010-09-08	2010-09-08	ENSG00000153914	ENSG00000153914		"""RNA binding motif (RRM) containing"""	17882	protein-coding gene	gene with protein product	"""serine-arginine-rich splicing regulatory protein 508"""	609268	"""splicing factor, arginine/serine-rich 12"""	SFRS12		12043562	Standard	NM_001077199		Approved	DKFZp564B176, SRrp86, SRrp508	uc003jun.4	Q8WXA9	OTTHUMG00000097809	ENST00000380918.3:c.604T>A	5.37:g.65460676T>A	ENSP00000370305:p.Ser202Thr		A4FTW3|Q2M1J0|Q86X37	Missense_Mutation	SNP	ENST00000380918.3	37	CCDS3991.1	.	.	.	.	.	.	.	.	.	.	T	13.71	2.319218	0.41096	.	.	ENSG00000153914	ENST00000334121;ENST00000537482;ENST00000380918	T;T	0.21734	1.99;1.99	5.4	5.4	0.78164	.	0.227351	0.47455	D	0.000237	T	0.33731	0.0873	L	0.32530	0.975	0.40950	D	0.984532	P;P;D	0.56035	0.956;0.956;0.974	D;D;D	0.70487	0.931;0.931;0.969	T	0.04961	-1.0915	10	0.21540	T	0.41	.	15.7082	0.77602	0.0:0.0:0.0:1.0	.	202;202;318	Q69YM5;Q8WXA9;Q8WXA9-2	.;SREK1_HUMAN;.	T	318;318;202	ENSP00000334538:S318T;ENSP00000370305:S202T	ENSP00000334538:S318T	S	+	1	0	SREK1	65496432	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.782000	0.68973	2.163000	0.67991	0.533000	0.62120	TCT		0.368	SREK1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381118.1	NM_001077199		30	89	30	89
AGAP3	116988	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	150840451	150840451	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr7:150840451G>A	ENST00000463381.1	+	15	1800	c.1304G>A	c.(1303-1305)cGg>cAg	p.R435Q	AGAP3_ENST00000397238.2_Missense_Mutation_p.R766Q	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	730	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						CGCTGGATACGGGCCAAGTAT	0.627																																																0													49.0	56.0	53.0					7																	150840451		2118	4247	6365	SO:0001583	missense	116988			AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.1304G>A	7.37:g.150840451G>A	ENSP00000418016:p.Arg435Gln		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000463381.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.249017|5.249017	0.95305|0.95305	.|.	.|.	ENSG00000133612|ENSG00000133612	ENST00000461065|ENST00000463381;ENST00000397232;ENST00000397238;ENST00000335355	.|T;T	.|0.47528	.|0.84;0.84	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	.|0.068783	.|0.64402	.|D	.|0.000013	T|T	0.74627|0.74627	0.3741|0.3741	M|M	0.88181|0.88181	2.935|2.935	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.974;0.987;0.999	.|D;P;P;P	.|0.85130	.|0.997;0.49;0.804;0.898	T|T	0.79276|0.79276	-0.1870|-0.1870	5|10	.|0.72032	.|D	.|0.01	.|.	18.0822|18.0822	0.89444|0.89444	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|730;265;766;435	.|Q96P47;E7ETI2;Q96P47-4;B3KNZ8	.|AGAP3_HUMAN;.;.;.	R|Q	259|435;265;766;730	.|ENSP00000418016:R435Q;ENSP00000380413:R766Q	.|ENSP00000334157:R730Q	G|R	+|+	1|2	0|0	AGAP3|AGAP3	150471384|150471384	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.772000|7.772000	0.85439|0.85439	2.744000|2.744000	0.94065|0.94065	0.655000|0.655000	0.94253|0.94253	GGG|CGG		0.627	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946		16	78	16	78
KCNU1	157855	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	36671862	36671862	+	Silent	SNP	G	G	T			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr8:36671862G>T	ENST00000399881.3	+	8	907	c.870G>T	c.(868-870)cgG>cgT	p.R290R		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	290					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CCTTAGGACGGACCTTCATCA	0.353																																																0													70.0	65.0	66.0					8																	36671862		1858	4096	5954	SO:0001819	synonymous_variant	157855			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.870G>T	8.37:g.36671862G>T				Silent	SNP	ENST00000399881.3	37	CCDS55220.1																																																																																				0.353	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		12	19	12	19
COL5A1	1289	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	137704486	137704486	+	Silent	SNP	C	C	T	rs150591401	byFrequency	TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr9:137704486C>T	ENST00000371817.3	+	48	4194	c.3780C>T	c.(3778-3780)tcC>tcT	p.S1260S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1260	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GAGGACCCTCCGGAGCTCCAG	0.637																																																0								C		3,4399		0,3,2198	28.0	26.0	26.0		3780	-4.2	1.0	9	dbSNP_134	26	0,8600		0,0,4300	no	coding-synonymous	COL5A1	NM_000093.3		0,3,6498	TT,TC,CC		0.0,0.0682,0.0231		1260/1839	137704486	3,12999	2201	4300	6501	SO:0001819	synonymous_variant	1289			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.3780C>T	9.37:g.137704486C>T			Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	CCDS6982.1																																																																																				0.637	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		4	12	4	12
SHROOM2	357	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	9900906	9900906	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chrX:9900906A>G	ENST00000380913.3	+	6	3673	c.3583A>G	c.(3583-3585)Acc>Gcc	p.T1195A	SHROOM2_ENST00000418909.2_Missense_Mutation_p.T30A|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1195					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TGAGGATTCAACCAGGTACTG	0.627																																																0													30.0	28.0	29.0					X																	9900906		2200	4298	6498	SO:0001583	missense	357			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.3583A>G	X.37:g.9900906A>G	ENSP00000370299:p.Thr1195Ala		B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	A	0.852	-0.738166	0.03111	.	.	ENSG00000146950	ENST00000380913;ENST00000418909;ENST00000452575;ENST00000540923	T;T;T	0.40225	2.61;1.62;1.04	4.66	-3.15	0.05233	.	0.970977	0.08530	N	0.932121	T	0.20577	0.0495	N	0.21373	0.66	0.09310	N	1	B;B	0.24426	0.0;0.103	B;B	0.20767	0.0;0.031	T	0.21759	-1.0236	10	0.19147	T	0.46	-5.6851	2.0514	0.03571	0.2448:0.2537:0.3733:0.1282	.	30;1195	Q68DU3;Q13796	.;SHRM2_HUMAN	A	1195;30;30;30	ENSP00000370299:T1195A;ENSP00000415229:T30A;ENSP00000406724:T30A	ENSP00000370299:T1195A	T	+	1	0	SHROOM2	9860906	0.001000	0.12720	0.002000	0.10522	0.094000	0.18550	-0.035000	0.12205	-0.603000	0.05767	0.425000	0.28330	ACC		0.627	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		14	24	14	24
DENND1B	163486	broad.mit.edu;ucsc.edu	37	1	197611924	197611924	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr1:197611924C>T	ENST00000367396.3	-	10	758	c.589G>A	c.(589-591)Gtg>Atg	p.V197M	DENND1B_ENST00000235453.4_Missense_Mutation_p.V167M|DENND1B_ENST00000400967.2_Missense_Mutation_p.V167M	NM_144977.4	NP_659414.2	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	197	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						TTCACATCCACGGCAACAAAA	0.373																																																0													69.0	62.0	65.0					1																	197611924		1972	4221	6193	SO:0001583	missense	163486			BC016588	CCDS41452.2, CCDS72996.1, CCDS72997.1	1q31.3	2012-10-03	2005-08-17	2005-08-17	ENSG00000213047	ENSG00000213047		"""DENN/MADD domain containing"""	28404	protein-coding gene	gene with protein product		613292	"""family with sequence similarity 31, member B"", ""chromosome 1 open reading frame 218"""	FAM31B, C1orf218		12477932	Standard	NM_144977		Approved	MGC27044, FLJ20054	uc021pgu.1	Q6P3S1	OTTHUMG00000035653	ENST00000367396.3:c.589G>A	1.37:g.197611924C>T	ENSP00000356366:p.Val197Met		B5MD89|D3PFD5|Q5T3B8|Q5T3B9|Q5T3C1|Q5TAI8|Q6B0I8|Q8NDT1|Q8TBE6|Q9H774|Q9NXU2	Missense_Mutation	SNP	ENST00000367396.3	37	CCDS41452.2	.	.	.	.	.	.	.	.	.	.	C	16.76	3.213620	0.58452	.	.	ENSG00000213047	ENST00000542760;ENST00000450419;ENST00000235453;ENST00000367396;ENST00000400967;ENST00000422998	T;T;T;T	0.11930	2.73;2.73;2.73;2.73	4.46	4.46	0.54185	DENN (3);	0.000000	0.64402	D	0.000001	T	0.40767	0.1130	M	0.80746	2.51	0.58432	D	0.999998	D;D;D	0.89917	0.999;0.999;1.0	D;D;P	0.72338	0.977;0.975;0.841	T	0.46707	-0.9172	10	0.72032	D	0.01	-15.9383	17.4732	0.87652	0.0:1.0:0.0:0.0	.	197;197;167	Q6P3S1-5;Q6P3S1;Q6P3S1-4	.;DEN1B_HUMAN;.	M	197;177;167;197;167;141	ENSP00000235453:V167M;ENSP00000356366:V197M;ENSP00000383751:V167M;ENSP00000410025:V141M	ENSP00000235453:V167M	V	-	1	0	DENND1B	195878547	1.000000	0.71417	0.978000	0.43139	0.228000	0.25075	7.445000	0.80570	2.188000	0.69820	0.650000	0.86243	GTG		0.373	DENND1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086539.1	NM_144977		4	21	4	21
LRRC37A11P	342666	broad.mit.edu;ucsc.edu	37	17	37188187	37188187	+	RNA	SNP	G	G	A	rs57993280	byFrequency	TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr17:37188187G>A	ENST00000425901.2	+	0	2029					NR_033753.2				leucine rich repeat containing 37, member A11, pseudogene																		CACTTCCACCGCCAGACAAGG	0.488													G|||	14	0.00279553	0.0091	0.0029	5008	,	,		22889	0.0		0.0	False		,,,				2504	0.0															0																																												342666					17q12	2013-05-14			ENSG00000214553	ENSG00000214553			43815	pseudogene	pseudogene							Standard	NR_033753		Approved		uc002hrd.1		OTTHUMG00000133184		17.37:g.37188187G>A				RNA	SNP	ENST00000425901.2	37																																																																																					0.488	LRRC37A11P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444105.1	NR_033753		41	96	41	96
