#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_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_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	i_Start_position_hg18	i_TumorRefReads_WU	i_TumorVAF_WU	i_TumorVarReads_WU	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
MIR891A	100126341	genome.wustl.edu	37	X	145109390	145109390	+	RNA	SNP	G	G	T			TCGA-AB-2977-03A-01D-0739-09	TCGA-AB-2977-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	56189e90-e223-4523-b613-10df5b2eb23d	4992751b-33fc-4136-bcbc-564c6854cef3	g.chrX:145109390G>T	ENST00000401237.1	-	0	0					NR_030581.1				microRNA 891a																		AAGGATTAAGGAGACAACATT	0.363																																						dbGAP											0			X											99.0	78.0	85.0					X																	145109390		1568	3582	5150	144917082			0					Xq27.3	2011-09-12		2008-12-18	ENSG00000216056	ENSG00000216056		"""ncRNAs / Micro RNAs"""	33635	non-coding RNA	RNA, micro				MIRN891A			Standard	NR_030581		Approved	hsa-mir-891a	uc022cft.1				X.37:g.145109390G>T		312	11.61	41		NA	NA	NA	144917082	376	42.62	280		RNA	SNP	-	NULL	ENST00000401237.1	37	NULL		X																																																																																			-	-		0.363	MIR891A-201	KNOWN	basic	miRNA	MIRN891A	miRNA		G	NR_030581		144917082	-1	no_errors	ENST00000401237	ensembl	human	known	54_36p	rna	SNP	0.001	T
PLCH2	9651	genome.wustl.edu	37	1	2418350	2418350	+	Missense_Mutation	SNP	C	C	T	rs369730924		TCGA-AB-2977-03A-01D-0739-09	TCGA-AB-2977-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	56189e90-e223-4523-b613-10df5b2eb23d	4992751b-33fc-4136-bcbc-564c6854cef3	g.chr1:2418350C>T	ENST00000419816.2	+	6	1095	c.821C>T	c.(820-822)gCg>gTg	p.A274V	PLCH2_ENST00000449969.1_Missense_Mutation_p.A247V|PLCH2_ENST00000378488.3_Missense_Mutation_p.A274V|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378486.3_Missense_Mutation_p.A274V			O75038	PLCH2_HUMAN	phospholipase C, eta 2	274					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.A121V(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GCCTAGATGGCGGGTGTGACC	0.617																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	1						C	VAL/ALA	1,4235		0,1,2117	43.0	47.0	45.0		821	-0.7	0.0	1		45	0,8480		0,0,4240	no	missense	PLCH2	NM_014638.2	64	0,1,6357	TT,TC,CC		0.0,0.0236,0.0079	benign	274/1417	2418350	1,12715	2118	4240	6358	2408210	SO:0001583	missense	0			AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"""EF-hand domain containing"""	29037	protein-coding gene	gene with protein product		612836	"""phospholipase C-like 4"""	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.821C>T	1.37:g.2418350C>T	ENSP00000389803:p.Ala274Val	67	9.46	7		4	0.00	0	2408210	39	49.35	38	A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	HMMPfam_C2,HMMSmart_SM00239,HMMPfam_PI-PLC-X,HMMSmart_SM00148,HMMPfam_PI-PLC-Y,HMMSmart_SM00149,HMMPfam_PH,HMMSmart_SM00233,HMMSmart_SM00054,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_efhand_like,superfamily_PLC-like phosphodiesterases,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand,superfamily_PH domain-like	p.A274V	ENST00000419816.2	37	c.821		1	.	.	.	.	.	.	.	.	.	.	C	4.405	0.074852	0.08485	2.36E-4	0.0	ENSG00000149527	ENST00000449969;ENST00000378486;ENST00000378488;ENST00000343889;ENST00000278878	T;T;T	0.44083	0.93;0.93;0.93	3.87	-0.689	0.11313	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.957840	0.08668	N	0.911327	T	0.17023	0.0409	N	0.04355	-0.22	0.09310	N	1	B;B;B;B	0.19583	0.037;0.002;0.035;0.009	B;B;B;B	0.20184	0.028;0.01;0.008;0.01	T	0.18713	-1.0328	10	0.33940	T	0.23	.	1.1056	0.01693	0.3709:0.316:0.1307:0.1823	.	121;62;247;274	B9DI81;B9DI82;O75038-2;O75038	.;.;.;PLCH2_HUMAN	V	247;274;274;121;62	ENSP00000397289:A247V;ENSP00000367747:A274V;ENSP00000367749:A274V	ENSP00000278878:A62V	A	+	2	0	PLCH2	2408210	0.000000	0.05858	0.001000	0.08648	0.046000	0.14306	-0.107000	0.10873	-0.375000	0.07955	-0.258000	0.10820	GCG	-	HMMPfam_efhand_like,superfamily_EF-hand		0.617	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	PLCH2	protein_coding	OTTHUMT00000467514.1	C	NM_014638		2408210	+1	no_errors	NM_014638.2	genbank	human	provisional	54_36p	missense	SNP	0.000	T
LOC645949	645949	genome.wustl.edu	37	2	21934104	21934104	+	lincRNA	SNP	T	T	A			TCGA-AB-2977-03A-01D-0739-09	TCGA-AB-2977-11A-01D-0739-09	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	56189e90-e223-4523-b613-10df5b2eb23d	4992751b-33fc-4136-bcbc-564c6854cef3	g.chr2:21934104T>A	ENST00000435682.1	-	0	0					NR_038837.1																						TTGGAGAAAGTAGAGTACAGA	0.443																																						dbGAP											0			2																																								21787609			0																															2.37:g.21934104T>A		217	14.51	37		NA	NA	NA	21787609	364	48.66	345		RNA	SNP	-	NULL	ENST00000435682.1	37	NULL		2																																																																																			-	-		0.443	AC018742.1-001	KNOWN	basic	lincRNA	LOC645949	lincRNA	OTTHUMT00000324015.1	T			21787609	-1	no_errors	XR_040569.1	genbank	human	model	54_36p	rna	SNP	0.001	A
TTN	7273	genome.wustl.edu	37	2	179402121	179402121	+	Silent	SNP	C	C	T			TCGA-AB-2977-03A-01D-0739-09	TCGA-AB-2977-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	56189e90-e223-4523-b613-10df5b2eb23d	4992751b-33fc-4136-bcbc-564c6854cef3	g.chr2:179402121C>T	ENST00000591111.1	-	305	95114	c.94890G>A	c.(94888-94890)caG>caA	p.Q31630Q	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000342175.6_Silent_p.Q24398Q|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000359218.5_Silent_p.Q24331Q|TTN_ENST00000460472.2_Silent_p.Q24206Q|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.Q33271Q|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342992.6_Silent_p.Q30703Q|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589434.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31630					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)	p.Q24206Q(1)|p.Q30701Q(1)|p.Q24398Q(1)		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)			CATTGCTGAGCTGGACTTTGT	0.318																																						dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	2											83.0	70.0	74.0					2																	179402121		1867	4098	5965	179110367	SO:0001819	synonymous_variant	0			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.94890G>A	2.37:g.179402121C>T		219	17.05	45		NA	NA	NA	179110367	348	50.43	354	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	superfamily_Ypt/Rab-GAP domain of gyp1p,PatternScan_RCC1_2,PatternScan_IG_MHC,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_PPAK,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_beta-sandwich domain of Sec23/24	p.S30703N	ENST00000591111.1	37	c.92108		2																																																																																			-	NULL		0.318	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179110367	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	NM_133378.3	genbank	human	reviewed	54_36p	missense	SNP	0.999	T
IDH1	3417	genome.wustl.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-AB-2977-03A-01D-0739-09	TCGA-AB-2977-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	56189e90-e223-4523-b613-10df5b2eb23d	4992751b-33fc-4136-bcbc-564c6854cef3	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	dbGAP		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	679	Substitution - Missense(678)|Complex - compound substitution(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	2											81.0	74.0	76.0					2																	209113113		2203	4300	6503	208821358	SO:0001583	missense	0				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys	270	12.34	38		22	57.69	30	208821358	197	41.59	141	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like	p.R132C	ENST00000415913.1	37	c.394	CCDS2381.1	2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT	-	HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IDH1	protein_coding	OTTHUMT00000336672.1	G			208821358	-1	no_errors	NM_005896.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
ZNF721	170960	genome.wustl.edu	37	4	437878	437878	+	Silent	SNP	T	T	C			TCGA-AB-2977-03A-01D-0739-09	TCGA-AB-2977-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	56189e90-e223-4523-b613-10df5b2eb23d	4992751b-33fc-4136-bcbc-564c6854cef3	g.chr4:437878T>C	ENST00000338977.5	-	2	390	c.342A>G	c.(340-342)caA>caG	p.Q114Q	ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Silent_p.Q126Q			Q8TF20	ZN721_HUMAN	zinc finger protein 721	114					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q126Q(1)		endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TTCCTTTATGTTGAGTTAGGT	0.373																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	4											119.0	129.0	126.0					4																	437878		2154	4287	6441	427878	SO:0001819	synonymous_variant	0			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.342A>G	4.37:g.437878T>C		260	6.79	19		3	0.00	0	427878	267	45.17	220	Q69YG7	Silent	SNP	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.Q126	ENST00000338977.5	37	c.378		4																																																																																			-	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers		0.373	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	ZNF721	protein_coding	OTTHUMT00000357939.1	T	NM_133474		427878	-1	no_errors	NM_133474.2	genbank	human	validated	54_36p	silent	SNP	0.017	C
FBXL7	23194	genome.wustl.edu	37	5	15936890	15936890	+	Silent	SNP	C	C	T			TCGA-AB-2977-03A-01D-0739-09	TCGA-AB-2977-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	56189e90-e223-4523-b613-10df5b2eb23d	4992751b-33fc-4136-bcbc-564c6854cef3	g.chr5:15936890C>T	ENST00000504595.1	+	4	1552	c.1071C>T	c.(1069-1071)atC>atT	p.I357I	FBXL7_ENST00000510662.1_Silent_p.I310I|FBXL7_ENST00000329673.7_Silent_p.I345I|MIR887_ENST00000401258.1_RNA	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	357					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.I357I(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						ACCTGAGCATCGCGCACTGCG	0.672																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	5											30.0	34.0	33.0					5																	15936890		2190	4272	6462	15989890	SO:0001819	synonymous_variant	0			AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.1071C>T	5.37:g.15936890C>T		184	11.85	25		NA	NA	NA	15989890	206	44.47	169	B9EGF1|D6RDY7|O94926	Silent	SNP	HMMPfam_F-box,HMMSmart_SM00256,HMMSmart_SM00367,superfamily_RNI-like	p.I357	ENST00000504595.1	37	c.1071	CCDS54833.1	5																																																																																			-	HMMSmart_SM00367,superfamily_RNI-like		0.672	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL7	protein_coding	OTTHUMT00000366117.1	C	NM_012304		15989890	+1	no_errors	NM_012304.3	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
GPR98	84059	genome.wustl.edu	37	5	89925318	89925318	+	Missense_Mutation	SNP	G	G	A	rs375085032		TCGA-AB-2977-03A-01D-0739-09	TCGA-AB-2977-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	56189e90-e223-4523-b613-10df5b2eb23d	4992751b-33fc-4136-bcbc-564c6854cef3	g.chr5:89925318G>A	ENST00000405460.2	+	9	1897	c.1801G>A	c.(1801-1803)Gat>Aat	p.D601N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	601					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.D601N(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		aataagaaatgatgcattcct	0.333																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	5											65.0	64.0	64.0					5																	89925318		1844	4085	5929	89961074	SO:0001583	missense	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.1801G>A	5.37:g.89925318G>A	ENSP00000384582:p.Asp601Asn	232	11.79	31		NA	NA	NA	89961074	334	40.36	226	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	HMMPfam_GPS,PatternScan_LIPOYL,HMMPfam_Calx-beta,HMMSmart_SM00237,HMMPfam_EPTP,PatternScan_A_DEAMINASE,superfamily_Concanavalin A-like lectins/glucanases	p.D601N	ENST00000405460.2	37	c.1801	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	34	5.357952	0.95854	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.60171	0.21	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.77935	0.4205	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78375	-0.2228	10	0.51188	T	0.08	.	19.441	0.94821	0.0:0.0:1.0:0.0	.	601	Q8WXG9	GPR98_HUMAN	N	601	ENSP00000384582:D601N	ENSP00000296619:D601N	D	+	1	0	GPR98	89961074	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.184000	0.94893	2.603000	0.88011	0.655000	0.94253	GAT	-	NULL		0.333	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	protein_coding	OTTHUMT00000369993.2	G	NM_032119		89961074	+1	no_errors	NM_032119.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
OR5AR1	219493	genome.wustl.edu	37	11	56431699	56431699	+	Missense_Mutation	SNP	G	G	A	rs138342920	byFrequency	TCGA-AB-2977-03A-01D-0739-09	TCGA-AB-2977-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	56189e90-e223-4523-b613-10df5b2eb23d	4992751b-33fc-4136-bcbc-564c6854cef3	g.chr11:56431699G>A	ENST00000302969.2	+	1	562	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E180K(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TTTCTTCTGCGAAATCCCACC	0.483													G|||	2	0.000399361	0.0008	0.0	5008	,	,		21972	0.001		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	11											214.0	189.0	197.0					11																	56431699		2201	4296	6497	56188275	SO:0001583	missense	0			AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"""GPCR / Class A : Olfactory receptors"""	15260	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AR, member 1"""				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.538G>A	11.37:g.56431699G>A	ENSP00000302639:p.Glu180Lys	214	13.71	34		NA	NA	NA	56188275	539	44.05	426	Q6IF61	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.E180K	ENST00000302969.2	37	c.538	CCDS31535.1	11	.	.	.	.	.	.	.	.	.	.	G	20.8	4.058017	0.76074	.	.	ENSG00000172459	ENST00000302969	T	0.00202	8.56	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000151	T	0.00468	0.0015	M	0.74467	2.265	0.29430	N	0.859955	D	0.67145	0.996	P	0.60682	0.878	T	0.49011	-0.8983	10	0.87932	D	0	.	13.8882	0.63721	0.0:0.0:0.8473:0.1526	.	180	Q8NGP9	O5AR1_HUMAN	K	180	ENSP00000302639:E180K	ENSP00000302639:E180K	E	+	1	0	OR5AR1	56188275	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.479000	0.53165	2.554000	0.86153	0.573000	0.79308	GAA	-	HMMPfam_7tm_1,superfamily_SSF81321		0.483	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AR1	protein_coding	OTTHUMT00000334434.1	G	NM_001004730		56188275	+1	no_errors	NM_001004730.1	genbank	human	provisional	54_36p	missense	SNP	1.000	A
RIN1	9610	genome.wustl.edu	37	11	66103116	66103116	+	Silent	SNP	G	G	A			TCGA-AB-2977-03A-01D-0739-09	TCGA-AB-2977-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	56189e90-e223-4523-b613-10df5b2eb23d	4992751b-33fc-4136-bcbc-564c6854cef3	g.chr11:66103116G>A	ENST00000311320.4	-	4	546	c.420C>T	c.(418-420)gaC>gaT	p.D140D	RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000424433.2_Silent_p.D35D|RIN1_ENST00000530056.1_Silent_p.D35D|RIN1_ENST00000524804.1_5'Flank	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	140	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.D140D(1)		breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						GCTGGACTAGGTCTGGGAACA	0.647																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	11											50.0	49.0	49.0					11																	66103116		2200	4295	6495	65859692	SO:0001819	synonymous_variant	0			L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.420C>T	11.37:g.66103116G>A		199	15.68	37		5	16.67	1	65859692	86	47.88	79	O15010|Q00427|Q96CC8	Silent	SNP	HMMPfam_RA,HMMSmart_SM00314,HMMSmart_SM00252,HMMPfam_VPS9,HMMSmart_SM00167,superfamily_VPS9 domain (Pfam 02204),superfamily_SH2 domain	p.D140	ENST00000311320.4	37	c.420	CCDS31614.1	11																																																																																			-	HMMSmart_SM00252,superfamily_SH2 domain		0.647	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN1	protein_coding	OTTHUMT00000392980.2	G	NM_004292		65859692	-1	no_errors	NM_004292.2	genbank	human	validated	54_36p	silent	SNP	1.000	A
Unknown	0	genome.wustl.edu	37	12	94534100	94534100	+	IGR	SNP	C	C	T			TCGA-AB-2977-03A-01D-0739-09	TCGA-AB-2977-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	56189e90-e223-4523-b613-10df5b2eb23d	4992751b-33fc-4136-bcbc-564c6854cef3	g.chr12:94534100C>T								RN7SKP263 (131277 upstream) : PLXNC1 (8398 downstream)																							GTGATGGCCACGGAGAAGCAT	0.537																																						dbGAP											0			12																																								93058231	SO:0001628	intergenic_variant	0																															12.37:g.94534100C>T		101	12.17	14		NA	NA	NA	93058231	149	38.93	95		Missense_Mutation	SNP	HMMPfam_ELM2	p.T53M		37	c.158		12																																																																																			-	HMMPfam_ELM2	0	0.537					LOC441644			C			93058231	+1	no_errors	XM_001714973.1	genbank	human	model	54_36p	missense	SNP	1.000	T
KIAA0226L	80183	genome.wustl.edu	37	13	46946148	46946148	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2977-03A-01D-0739-09	TCGA-AB-2977-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	56189e90-e223-4523-b613-10df5b2eb23d	4992751b-33fc-4136-bcbc-564c6854cef3	g.chr13:46946148C>T	ENST00000429979.1	-	3	1067	c.463G>A	c.(463-465)Gcc>Acc	p.A155T	KIAA0226L_ENST00000409879.2_Intron|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.A155T|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.A155T|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.A88T|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.A155T|RNU2-6P_ENST00000411404.1_RNA|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.A20T|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.A155T|KIAA0226L_ENST00000322896.6_Intron|KIAA0226L_ENST00000480935.1_5'Flank	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	155								p.A155T(1)		NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						GGGGAGGTGGCCAAAATCCCA	0.502																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	13											71.0	69.0	70.0					13																	46946148		2203	4300	6503	45844149	SO:0001583	missense	0			AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 18"""	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.463G>A	13.37:g.46946148C>T	ENSP00000396935:p.Ala155Thr	282	10.97	35		NA	NA	NA	45844149	387	44.21	309	A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	NULL	p.A155T	ENST00000429979.1	37	c.463	CCDS31970.2	13	.	.	.	.	.	.	.	.	.	.	C	11.37	1.619367	0.28801	.	.	ENSG00000102445	ENST00000378781;ENST00000429979;ENST00000378797;ENST00000378784;ENST00000389908;ENST00000378787;ENST00000534925;ENST00000417405;ENST00000439642	T;T;T;T;T;T;T;T;T	0.56776	0.48;0.62;0.56;0.62;0.62;0.56;0.69;0.53;0.44	5.65	0.809	0.18725	.	0.973510	0.08458	N	0.942813	T	0.31009	0.0783	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.25007	0.116;0.011;0.006;0.011;0.011	B;B;B;B;B	0.24155	0.051;0.009;0.002;0.006;0.009	T	0.21621	-1.0240	10	0.33940	T	0.23	-1.9327	3.8523	0.08960	0.2843:0.4762:0.0:0.2395	.	155;155;155;88;155	E7EMA2;Q9H714-1;Q9H714;Q9H714-3;Q9H714-4	.;.;K226L_HUMAN;.;.	T	155;155;155;88;155;155;20;20;155	ENSP00000368057:A155T;ENSP00000396935:A155T;ENSP00000368074:A155T;ENSP00000368061:A88T;ENSP00000374558:A155T;ENSP00000368064:A155T;ENSP00000437501:A20T;ENSP00000402357:A20T;ENSP00000414579:A155T	ENSP00000368057:A155T	A	-	1	0	KIAA0226L	45844149	0.000000	0.05858	0.005000	0.12908	0.006000	0.05464	0.052000	0.14163	0.046000	0.15833	0.655000	0.94253	GCC	-	NULL		0.502	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	C13orf18	protein_coding	OTTHUMT00000044809.2	C	NM_025113		45844149	-1	no_errors	NM_025113.2	genbank	human	validated	54_36p	missense	SNP	0.001	T
