#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NUP133	55746	broad.mit.edu	37	1	229623237	229623237	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr1:229623237C>T	ENST00000261396.3	-	10	1409	c.1318G>A	c.(1318-1320)Gag>Aag	p.E440K	NUP133_ENST00000537506.1_Missense_Mutation_p.E424K	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	440					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				ACAATTTTCTCCTGGGGAAGA	0.413																																						uc001htn.3																			0				NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56						c.(1318-1320)Gag>Aag		Homo sapiens nucleoporin 133kDa (NUP133), mRNA.							102.0	104.0	103.0					1																	229623237		2203	4300	6503	SO:0001583	missense	55746				carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	nucleocytoplasmic transporter activity|protein binding	g.chr1:229623237C>T		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.1318G>A	1.37:g.229623237C>T	ENSP00000261396:p.Glu440Lys		Somatic					p.E440K	NM_018230	NP_060700	WXS	Illumina GAIIx	Phase_I	Q8WUM0	NU133_HUMAN			9	1410	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	440					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	ENST00000261396.3	37	c.1318G>A	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	C	33	5.239214	0.95240	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.61859	0.07;0.07;0.07	5.07	5.07	0.68467	WD40/YVTN repeat-like-containing domain (1);Nucleoporin, Nup133/Nup155-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67505	0.2900	M	0.73962	2.25	0.80722	D	1	D	0.53312	0.959	P	0.49085	0.6	T	0.70630	-0.4819	10	0.45353	T	0.12	-12.7626	18.8123	0.92063	0.0:1.0:0.0:0.0	.	440	Q8WUM0	NU133_HUMAN	K	440;440;440;424	ENSP00000261396:E440K;ENSP00000355640:E440K;ENSP00000443496:E424K	ENSP00000261396:E440K	E	-	1	0	NUP133	227689860	1.000000	0.71417	0.984000	0.44739	0.934000	0.57294	6.724000	0.74747	2.526000	0.85167	0.585000	0.79938	GAG		0.413	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		36	50	0	0	0	1	0	36	50				
ADAM21	8747	broad.mit.edu	37	14	70924423	70924423	+	Silent	SNP	C	C	A			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr14:70924423C>A	ENST00000603540.1	+	2	465	c.207C>A	c.(205-207)ggC>ggA	p.G69G	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Silent_p.G69G	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	69					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GGTTTGGGGGCCAGAAACACG	0.527																																						uc001xmd.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31						c.(205-207)ggC>ggA		Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.							120.0	128.0	126.0					14																	70924423		2203	4300	6503	SO:0001819	synonymous_variant	8747				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70924423C>A	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.207C>A	14.37:g.70924423C>A			Somatic				ADAM21_uc021rvq.1_Silent_p.G69G	p.G69G	NM_003813	NP_003804	WXS	Illumina GAIIx	Phase_I	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	1	465	+			69					O43507|Q2VPC6|Q32MR0	Silent	SNP	ENST00000603540.1	37	c.207C>A	CCDS9804.1																																																																																				0.527	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			17	152	0	0	0	1	0	17	152				
PDE12	201626	broad.mit.edu	37	3	57543196	57543196	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr3:57543196G>A	ENST00000311180.8	+	1	1193	c.1090G>A	c.(1090-1092)Gcc>Acc	p.A364T	PDE12_ENST00000487257.1_Missense_Mutation_p.A364T	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	364					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		CTTGGTACCCGCCCTAGAGGC	0.557																																					Colon(125;308 1634 19198 50622 50717)	uc003diw.4																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(1090-1092)Gcc>Acc		Homo sapiens phosphodiesterase 12 (PDE12), mRNA.							48.0	49.0	49.0					3																	57543196		2203	4300	6503	SO:0001583	missense	201626						hydrolase activity	g.chr3:57543196G>A	AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"""2'-phosphodiesterase"""					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.1090G>A	3.37:g.57543196G>A	ENSP00000309142:p.Ala364Thr		Somatic				PDE12_uc003div.3_Missense_Mutation_p.A364T	p.A364T	NM_177966	NP_808881	WXS	Illumina GAIIx	Phase_I	Q6L8Q7	PDE12_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)	0	1216	+			364					B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Missense_Mutation	SNP	ENST00000311180.8	37	c.1090G>A	CCDS33772.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856907	0.71834	.	.	ENSG00000174840	ENST00000487257;ENST00000311180	T;T	0.80480	-1.38;-1.38	5.42	5.42	0.78866	Endonuclease/exonuclease/phosphatase (2);	0.099552	0.64402	D	0.000001	D	0.83243	0.5212	L	0.51853	1.615	0.54753	D	0.999987	D;P	0.65815	0.995;0.939	P;B	0.57468	0.821;0.357	T	0.79907	-0.1605	10	0.22706	T	0.39	-17.992	14.7807	0.69764	0.0:0.144:0.856:0.0	.	364;364	Q6L8Q7;F6T1Q0	PDE12_HUMAN;.	T	364	ENSP00000420626:A364T;ENSP00000309142:A364T	ENSP00000309142:A364T	A	+	1	0	PDE12	57518236	1.000000	0.71417	0.447000	0.26932	0.655000	0.38815	6.233000	0.72320	2.545000	0.85829	0.655000	0.94253	GCC		0.557	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351440.2	NM_177966		3	43	0	0	0	1	0	3	43				
RPRD1A	55197	broad.mit.edu	37	18	33647274	33647274	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr18:33647274G>C	ENST00000399022.4	-	1	265	c.94C>G	c.(94-96)Cac>Gac	p.H32D	RPRD1A_ENST00000590898.1_5'UTR|RPRD1A_ENST00000357384.4_Missense_Mutation_p.H32D|RPRD1A_ENST00000319040.6_Missense_Mutation_p.H32D|RPRD1A_ENST00000588737.1_5'UTR|RPRD1A_ENST00000588459.1_5'Flank	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	32	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.				dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						TTACGGTGGTGAATGAGCCAC	0.627																																						uc002kzg.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						c.(94-96)Cac>Gac		Homo sapiens regulation of nuclear pre-mRNA domain containing 1A (RPRD1A), mRNA.							93.0	65.0	75.0					18																	33647274		2203	4299	6502	SO:0001583	missense	55197							g.chr18:33647274G>C	AF419845	CCDS11917.1	18q12.2	2012-02-09	2008-08-15		ENSG00000141425	ENSG00000141425			25560	protein-coding gene	gene with protein product	"""cyclin-dependent kinase 2B-inhibitor-related protein"", ""Cyclin-dependent kinase inhibitor 2B-related protein (p15INK4B-related protein)"""	610347				12470661, 22231121	Standard	NM_018170		Approved	P15RS, FLJ10656, HsT3101	uc002kzg.3	Q96P16	OTTHUMG00000132591	ENST00000399022.4:c.94C>G	18.37:g.33647274G>C	ENSP00000381984:p.His32Asp		Somatic				RPRD1A_uc002kze.1_5'UTR|RPRD1A_uc010dmw.3_5'UTR|RPRD1A_uc010dmx.3_Missense_Mutation_p.H32D	p.H32D	NM_018170	NP_060640	WXS	Illumina GAIIx	Phase_I	Q96P16	RPR1A_HUMAN			0	100	-			32			CID.		A8KA42|B2RBA3|Q7Z5G8|Q96FY9|Q9NVL4	Missense_Mutation	SNP	ENST00000399022.4	37	c.94C>G	CCDS11917.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.370597	0.61624	.	.	ENSG00000141425	ENST00000399022;ENST00000357384;ENST00000319040	T;T;T	0.39056	1.1;1.1;1.1	5.38	4.51	0.55191	ENTH/VHS (2);RNA polymerase II, large subunit, CTD (2);	0.000000	0.85682	D	0.000000	T	0.66268	0.2772	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;0.985	D;P	0.83275	0.996;0.811	T	0.71417	-0.4599	10	0.66056	D	0.02	-8.3277	13.3123	0.60386	0.0:0.0:0.8407:0.1593	.	32;32	Q96P16-2;Q96P16	.;RPR1A_HUMAN	D	32	ENSP00000381984:H32D;ENSP00000349955:H32D;ENSP00000314602:H32D	ENSP00000314602:H32D	H	-	1	0	RPRD1A	31901272	1.000000	0.71417	1.000000	0.80357	0.184000	0.23303	9.392000	0.97252	1.268000	0.44264	-0.310000	0.09108	CAC		0.627	RPRD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255802.1	NM_018170		4	10	0	0	0	1	0	4	10				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		27	45	0	0	0	1	0	27	45				
MRPL16	54948	broad.mit.edu	37	11	59573896	59573896	+	Missense_Mutation	SNP	C	C	T	rs117253311	byFrequency	TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr11:59573896C>T	ENST00000300151.4	-	4	893	c.680G>A	c.(679-681)cGg>cAg	p.R227Q		NM_017840.3	NP_060310.1	Q9NX20	RM16_HUMAN	mitochondrial ribosomal protein L16	227					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						CAGTACTTTCCGTATGCCCAG	0.463													C|||	9	0.00179712	0.0	0.0	5008	,	,		18932	0.0079		0.0	False		,,,				2504	0.001					uc001noh.2																			0				central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						c.(679-681)cGg>cAg		Homo sapiens mitochondrial ribosomal protein L16 (MRPL16), nuclear gene encoding mitochondrial protein, mRNA.							247.0	228.0	234.0					11																	59573896		2201	4295	6496	SO:0001583	missense	54948						rRNA binding	g.chr11:59573896C>T	AF183428	CCDS7976.1	11q12.1	2012-09-13			ENSG00000166902	ENSG00000166902		"""Mitochondrial ribosomal proteins / large subunits"""	14476	protein-coding gene	gene with protein product		611829					Standard	NM_017840		Approved	FLJ20484, PNAS-111	uc001noh.2	Q9NX20	OTTHUMG00000167410	ENST00000300151.4:c.680G>A	11.37:g.59573896C>T	ENSP00000300151:p.Arg227Gln		Somatic					p.R227Q	NM_017840	NP_060310	WXS	Illumina GAIIx	Phase_I	Q9NX20	RM16_HUMAN			3	894	-			227					Q9BYD0|Q9HB70	Missense_Mutation	SNP	ENST00000300151.4	37	c.680G>A	CCDS7976.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	C	27.2	4.809275	0.90707	.	.	ENSG00000166902	ENST00000300151	T	0.23348	1.91	6.07	6.07	0.98685	.	0.045846	0.85682	D	0.000000	T	0.33469	0.0864	L	0.41573	1.285	0.80722	D	1	D	0.89917	1.0	D	0.64776	0.929	T	0.00802	-1.1560	10	0.27082	T	0.32	-22.0244	19.222	0.93801	0.0:1.0:0.0:0.0	.	227	Q9NX20	RM16_HUMAN	Q	227	ENSP00000300151:R227Q	ENSP00000300151:R227Q	R	-	2	0	MRPL16	59330472	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.797000	0.85911	2.884000	0.98904	0.655000	0.94253	CGG		0.463	MRPL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394521.1	NM_017840		5	143	0	0	0	1	0	5	143				
HP	3240	broad.mit.edu	37	16	72090087	72090087	+	Silent	SNP	G	G	A			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr16:72090087G>A	ENST00000355906.5	+	2	91	c.33G>A	c.(31-33)ctG>ctA	p.L11L	HP_ENST00000357763.4_Silent_p.L11L|HPR_ENST00000356967.5_Intron|HP_ENST00000570083.1_Silent_p.L11L|HP_ENST00000398131.2_Silent_p.L11L|HP_ENST00000569639.1_Silent_p.L11L|HP_ENST00000565574.1_Silent_p.L11L|HP_ENST00000562526.1_Silent_p.L11L	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	11					acute-phase response (GO:0006953)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|immune system process (GO:0002376)|negative regulation of hydrogen peroxide catabolic process (GO:2000296)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of cell death (GO:0010942)|response to hydrogen peroxide (GO:0042542)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)	antioxidant activity (GO:0016209)|hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		TTGCCCTCCTGCTCTGGGGAC	0.547																																						uc002fbr.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7						c.(31-33)ctG>ctA		Homo sapiens haptoglobin (HP), transcript variant 1, mRNA.							156.0	147.0	150.0					16																	72090087		2091	4227	6318	SO:0001819	synonymous_variant	3240				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity	g.chr16:72090087G>A		CCDS45524.1, CCDS45525.1	16q22.2	2012-10-02			ENSG00000257017	ENSG00000257017			5141	protein-coding gene	gene with protein product		140100				11109501, 9352226	Standard	NM_005143		Approved		uc002fbr.4	P00738		ENST00000355906.5:c.33G>A	16.37:g.72090087G>A			Somatic				TXNL4B_uc010cgl.2_Intron|HP_uc010cgm.3_Silent_p.L11L|HP_uc021tld.1_Silent_p.L11L|HP_uc002fbt.4_Silent_p.L11L	p.L11L	NM_005143	NP_005134	WXS	Illumina GAIIx	Phase_I	P00738	HPT_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)	1	77	+		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)	11					B0AZL5|P00737|Q0VAC4|Q0VAC5|Q2PP15|Q3B7J0|Q6LBY9|Q9UC67	Silent	SNP	ENST00000355906.5	37	c.33G>A	CCDS45524.1																																																																																				0.547	HP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421680.1	NM_005143		24	37	0	0	0	1	0	24	37				
HNF4A	3172	broad.mit.edu	37	20	43056987	43056987	+	Missense_Mutation	SNP	A	A	T	rs565460600		TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr20:43056987A>T	ENST00000316099.4	+	9	1231	c.1142A>T	c.(1141-1143)gAt>gTt	p.D381V	HNF4A_ENST00000457232.1_Missense_Mutation_p.D359V|HNF4A_ENST00000415691.2_Missense_Mutation_p.D381V|HNF4A_ENST00000316673.4_Missense_Mutation_p.D359V	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	381					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TCCCCCAGCGATGCACCCCAT	0.597																																					Colon(79;2 1269 8820 14841 52347)	uc002xma.3																			0				endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34						c.(1141-1143)gAt>gTt		Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.							112.0	85.0	94.0					20																	43056987		2203	4300	6503	SO:0001583	missense	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43056987A>T	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.1142A>T	20.37:g.43056987A>T	ENSP00000312987:p.Asp381Val		Somatic				HNF4A_uc002xlu.3_Missense_Mutation_p.D359V|HNF4A_uc002xlv.3_Missense_Mutation_p.D359V|HNF4A_uc010ggq.3_Missense_Mutation_p.D374V|HNF4A_uc002xlz.3_Missense_Mutation_p.D381V	p.D381V	NM_000457	NP_000448	WXS	Illumina GAIIx	Phase_I	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		8	1231	+		Myeloproliferative disorder(115;0.0122)	381					A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	ENST00000316099.4	37	c.1142A>T	CCDS13330.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.774676	0.90108	.	.	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000338692;ENST00000415691	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	5.93	5.93	0.95920	.	3.241510	0.01138	N	0.006125	D	0.83792	0.5331	L	0.59436	1.845	0.80722	D	1	P;P;P;P;D	0.53151	0.923;0.825;0.566;0.825;0.958	P;P;P;P;P	0.58721	0.707;0.466;0.466;0.594;0.844	T	0.65590	-0.6131	10	0.87932	D	0	.	16.3756	0.83387	1.0:0.0:0.0:0.0	.	374;381;381;359;359	Q5QPB7;P41235;F1D8S2;F1D8T0;P41235-6	.;HNF4A_HUMAN;.;.;.	V	359;359;381;411;381	ENSP00000315180:D359V;ENSP00000396216:D359V;ENSP00000312987:D381V;ENSP00000412111:D381V	ENSP00000312987:D381V	D	+	2	0	HNF4A	42490401	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.310000	0.96267	2.270000	0.75569	0.460000	0.39030	GAT		0.597	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			10	47	0	0	0	1	0	10	47				
SLC1A6	6511	broad.mit.edu	37	19	15061128	15061128	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr19:15061128C>T	ENST00000221742.3	-	9	1581	c.1574G>A	c.(1573-1575)cGg>cAg	p.R525Q	SLC1A6_ENST00000600144.1_Missense_Mutation_p.R447Q|SLC1A6_ENST00000430939.2_Missense_Mutation_p.R461Q	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	525					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						CTCCAGCTCCCGCTGAGACAA	0.612																																						uc002naa.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1573-1575)cGg>cAg		Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	L-Glutamic Acid(DB00142)						60.0	55.0	57.0					19																	15061128		2203	4300	6503	SO:0001583	missense	6511				synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15061128C>T		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1574G>A	19.37:g.15061128C>T	ENSP00000221742:p.Arg525Gln		Somatic				SLC1A6_uc010dzu.1_Missense_Mutation_p.R447Q|SLC1A6_uc010xod.1_Missense_Mutation_p.R461Q	p.R525Q	NM_005071	NP_005062	WXS	Illumina GAIIx	Phase_I	P48664	EAA4_HUMAN			8	1581	-			525					Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	c.1574G>A	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	c	16.16	3.043204	0.55003	.	.	ENSG00000105143	ENST00000430939;ENST00000221742	T;T	0.70869	-0.52;0.53	5.57	-1.84	0.07809	.	0.424262	0.25222	N	0.032239	T	0.42988	0.1227	N	0.08118	0	0.58432	D	0.999999	B;B	0.28324	0.207;0.017	B;B	0.17433	0.018;0.002	T	0.10520	-1.0626	10	0.46703	T	0.11	-12.9414	9.5599	0.39362	0.0:0.294:0.0:0.706	.	461;525	E7EV13;P48664	.;EAA4_HUMAN	Q	461;525	ENSP00000409386:R461Q;ENSP00000221742:R525Q	ENSP00000221742:R525Q	R	-	2	0	SLC1A6	14922128	0.995000	0.38212	0.900000	0.35374	0.971000	0.66376	1.632000	0.37102	-0.135000	0.11495	0.544000	0.68410	CGG		0.612	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		20	42	0	0	0	1	0	20	42				
FBLN1	2192	broad.mit.edu	37	22	45972977	45972977	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr22:45972977G>A	ENST00000327858.6	+	16	2056	c.1961G>A	c.(1960-1962)gGc>gAc	p.G654D	FBLN1_ENST00000348697.2_Missense_Mutation_p.G654D	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	654					embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TACATGGACGGCATGACCGTG	0.582																																						uc003bgj.1																			0		p.D653E(1)|p.D653D(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30						c.(1960-1962)gGc>gAc		Homo sapiens fibulin 1 (FBLN1), transcript variant D, mRNA.							157.0	121.0	134.0					22																	45972977		2203	4300	6503	SO:0001583	missense	2192				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr22:45972977G>A		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"""Fibulins"""	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1961G>A	22.37:g.45972977G>A	ENSP00000331544:p.Gly654Asp		Somatic					p.G654D	NM_006486	NP_006477	WXS	Illumina GAIIx	Phase_I	P23142	FBLN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	15	2108	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	654					B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	ENST00000327858.6	37	c.1961G>A	CCDS14067.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945151	0.73672	.	.	ENSG00000077942	ENST00000348697;ENST00000327858	D;D	0.83506	-1.64;-1.73	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.70631	0.3246	L	0.27053	0.805	0.54753	D	0.999984	P	0.40909	0.732	B	0.36134	0.218	T	0.69371	-0.5163	10	0.15066	T	0.55	.	14.5739	0.68232	0.0:0.0:1.0:0.0	.	654	P23142	FBLN1_HUMAN	D	654	ENSP00000262723:G654D;ENSP00000331544:G654D	ENSP00000331544:G654D	G	+	2	0	FBLN1	44351641	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.901000	0.87382	2.241000	0.73720	0.462000	0.41574	GGC		0.582	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486		3	33	0	0	0	1	0	3	33				
DNHD1	144132	broad.mit.edu	37	11	6588368	6588368	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr11:6588368A>C	ENST00000527990.2	+	34	11629	c.11629A>C	c.(11629-11631)Agc>Cgc	p.S3877R	DNHD1_ENST00000254579.6_Missense_Mutation_p.S3877R			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3877					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TTTCTGTATGAGCCCAGAGAA	0.537																																						uc001mdw.4																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(11629-11631)Agc>Cgc		Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.							90.0	92.0	91.0					11																	6588368		1978	4158	6136	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6588368A>C	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.11629A>C	11.37:g.6588368A>C	ENSP00000436180:p.Ser3877Arg		Somatic				DNHD1_uc001mea.4_Missense_Mutation_p.S146R|DNHD1_uc001meb.3_Missense_Mutation_p.S145R|DNHD1_uc001mec.3_Missense_Mutation_p.S145R|DNHD1_uc010rao.2_Missense_Mutation_p.S135R|DNHD1_uc009yfg.3_5'Flank	p.S3877R	NM_144666	NP_653267	WXS	Illumina GAIIx	Phase_I	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	35	12193	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	3877					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.11629A>C	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	A	8.163	0.789980	0.16258	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000525883;ENST00000530197	T;T	0.59638	0.25;0.25	4.78	-0.423	0.12325	.	1.207470	0.05939	N	0.636565	T	0.41581	0.1165	N	0.24115	0.695	0.09310	N	1	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.08055	0.002;0.001;0.003	T	0.38178	-0.9673	10	0.87932	D	0	1.4564	5.4695	0.16662	0.3034:0.4991:0.1975:0.0	.	2965;145;3877	B0I1S4;D3DQT9;Q96M86	.;.;DNHD1_HUMAN	R	3877;3877;145;145	ENSP00000254579:S3877R;ENSP00000436180:S3877R	ENSP00000254579:S3877R	S	+	1	0	DNHD1	6544944	0.001000	0.12720	0.115000	0.21578	0.429000	0.31625	0.227000	0.17795	0.010000	0.14839	0.459000	0.35465	AGC		0.537	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		8	79	0	0	0	1	0	8	79				
TTN	7273	broad.mit.edu	37	2	179612467	179612467	+	Intron	SNP	A	A	G			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr2:179612467A>G	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.I4887T|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron			Q8WZ42	TITIN_HUMAN	titin						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)			TAATTTAGGAATATTTTGAGA	0.378																																						uc002unb.2																			0				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						c.(14659-14661)aTt>aCt		Homo sapiens titin (TTN), transcript variant novex-3, mRNA.							55.0	56.0	55.0					2																	179612467		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179612467A>G	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.10360+5383T>C	2.37:g.179612467A>G			Somatic				TTN_uc021vsy.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Intron|TTN_uc021vtc.1_Non-coding_Transcript	p.I4887T	NM_133379	NP_596870	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		45	14885	-			1010			Ig-like 29.		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	c.14660T>C		.	.	.	.	.	.	.	.	.	.	A	9.232	1.036051	0.19590	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.58797	0.31	5.61	1.74	0.24563	.	.	.	.	.	T	0.30916	0.0780	N	0.08118	0	0.19775	N	0.999952	B	0.02656	0.0	B	0.04013	0.001	T	0.20773	-1.0265	9	0.10902	T	0.67	.	7.6104	0.28126	0.7199:0.0:0.2801:0.0	.	4887	Q8WZ42-6	.	T	4887;201	ENSP00000354117:I4887T	ENSP00000304714:I201T	I	-	2	0	TTN	179320712	0.523000	0.26274	0.262000	0.24481	0.133000	0.20885	1.848000	0.39309	0.434000	0.26340	0.528000	0.53228	ATT		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	33	0	0	0	1	0	10	33				
GRIK2	2898	broad.mit.edu	37	6	102307352	102307352	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr6:102307352G>A	ENST00000421544.1	+	10	1998	c.1508G>A	c.(1507-1509)cGt>cAt	p.R503H	GRIK2_ENST00000369138.1_Missense_Mutation_p.R503H|GRIK2_ENST00000369134.4_Missense_Mutation_p.R454H|GRIK2_ENST00000318991.6_Missense_Mutation_p.R503H|GRIK2_ENST00000369137.3_Missense_Mutation_p.R503H|GRIK2_ENST00000413795.1_Missense_Mutation_p.R503H	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	503					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GGAATGGTTCGTGAACTAATT	0.353																																						uc003pqp.4																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(1507-1509)cGt>cAt		Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)						96.0	91.0	92.0					6																	102307352		2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102307352G>A		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.1508G>A	6.37:g.102307352G>A	ENSP00000397026:p.Arg503His		Somatic				GRIK2_uc003pqn.3_Missense_Mutation_p.R503H|GRIK2_uc010kcw.3_Missense_Mutation_p.R503H|GRIK2_uc003pqo.4_Missense_Mutation_p.R503H|GRIK2_uc021zdk.1_Missense_Mutation_p.R503H|GRIK2_uc021zdl.1_Non-coding_Transcript	p.R503H	NM_021956	NP_068775	WXS	Illumina GAIIx	Phase_I	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	9	1801	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	503					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.1508G>A	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.450323	0.84101	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076;ENST00000436862	T;T;T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15	5.21	5.21	0.72293	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.116130	0.51477	D	0.000086	D	0.82692	0.5092	M	0.87381	2.88	0.48571	D	0.999676	P;P;P	0.48350	0.901;0.909;0.901	B;P;B	0.48795	0.403;0.59;0.291	D	0.86292	0.1674	10	0.66056	D	0.02	.	18.7526	0.91821	0.0:0.0:1.0:0.0	.	503;503;503	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	H	503;503;503;503;503;503;454;465;102	ENSP00000397026:R503H;ENSP00000405596:R503H;ENSP00000358134:R503H;ENSP00000358133:R503H;ENSP00000313276:R503H;ENSP00000358130:R454H;ENSP00000407140:R102H	ENSP00000313276:R503H	R	+	2	0	GRIK2	102414045	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.516000	0.60496	2.401000	0.81631	0.591000	0.81541	CGT		0.353	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			7	49	0	0	0	1	0	7	49				
JMJD1C	221037	broad.mit.edu	37	10	64973686	64973686	+	Silent	SNP	G	G	T			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr10:64973686G>T	ENST00000399262.2	-	8	2459	c.2241C>A	c.(2239-2241)acC>acA	p.T747T	JMJD1C_ENST00000402544.1_Silent_p.T528T|JMJD1C_ENST00000489372.2_5'Flank|JMJD1C_ENST00000542921.1_Silent_p.T565T|JMJD1C_ENST00000399251.1_Silent_p.T528T	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	747					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GATTTAAACAGGTTCTATGAG	0.438																																						uc001jmn.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(2239-2241)acC>acA		Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.							126.0	111.0	116.0					10																	64973686		1942	4154	6096	SO:0001819	synonymous_variant	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64973686G>T	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.2241C>A	10.37:g.64973686G>T			Somatic				JMJD1C_uc001jml.3_Silent_p.T528T|JMJD1C_uc001jmm.3_Silent_p.T459T|JMJD1C_uc010qiq.2_Silent_p.T565T|JMJD1C_uc009xpi.3_Silent_p.T565T|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc001jmp.1_Silent_p.T459T	p.T747T	NM_032776	NP_116165	WXS	Illumina GAIIx	Phase_I	Q15652	JHD2C_HUMAN			7	2541	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		747					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Silent	SNP	ENST00000399262.2	37	c.2241C>A	CCDS41532.1																																																																																				0.438	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		27	39	0	0	0	1	0	27	39				
IL18RAP	8807	broad.mit.edu	37	2	103059671	103059671	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr2:103059671A>C	ENST00000264260.2	+	8	1397	c.808A>C	c.(808-810)Act>Cct	p.T270P	AC007278.3_ENST00000450893.1_RNA|IL18RAP_ENST00000409369.1_Missense_Mutation_p.T128P	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	270	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AAAGCCTTTAACTATTAGCTG	0.438																																						uc002tbx.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.(808-810)Act>Cct		Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.							79.0	80.0	80.0					2																	103059671		2203	4300	6503	SO:0001583	missense	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103059671A>C	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.808A>C	2.37:g.103059671A>C	ENSP00000264260:p.Thr270Pro		Somatic				IL18RAP_uc010fiz.3_Missense_Mutation_p.T128P	p.T270P	NM_003853	NP_003844	WXS	Illumina GAIIx	Phase_I	O95256	I18RA_HUMAN			7	1292	+			270			Ig-like C2-type 2.		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	c.808A>C	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	A	15.08	2.728571	0.48833	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.16073	2.37;2.37	5.47	1.83	0.25207	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.640958	0.15156	N	0.277452	T	0.27063	0.0663	M	0.64997	1.995	0.09310	N	1	D	0.55800	0.973	P	0.55303	0.773	T	0.06499	-1.0823	10	0.38643	T	0.18	.	7.9363	0.29931	0.6877:0.0:0.3123:0.0	.	270	O95256	I18RA_HUMAN	P	270;128	ENSP00000264260:T270P;ENSP00000387201:T128P	ENSP00000264260:T270P	T	+	1	0	IL18RAP	102426103	0.852000	0.29690	0.017000	0.16124	0.703000	0.40648	2.534000	0.45676	0.375000	0.24679	0.528000	0.53228	ACT		0.438	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		16	48	0	0	0	1	0	16	48				
C12orf40	283461	broad.mit.edu	37	12	40076926	40076926	+	Silent	SNP	C	C	T			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr12:40076926C>T	ENST00000324616.5	+	8	1354	c.1200C>T	c.(1198-1200)agC>agT	p.S400S	C12orf40_ENST00000405531.3_Silent_p.S400S|C12orf40_ENST00000398716.1_Silent_p.S323S	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	400										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ACTACCCAAGCAGCTCTGAAA	0.294																																						uc001rmc.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						c.(1198-1200)agC>agT		Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.							45.0	44.0	45.0					12																	40076926		1792	3985	5777	SO:0001819	synonymous_variant	283461							g.chr12:40076926C>T	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.1200C>T	12.37:g.40076926C>T			Somatic				C12orf40_uc009zjv.1_Non-coding_Transcript	p.S400S	NM_001031748	NP_001026918	WXS	Illumina GAIIx	Phase_I	Q86WS4	CL040_HUMAN			7	1367	+			400					B7WNU1|Q8IXY6|Q8N818|V9HW02	Silent	SNP	ENST00000324616.5	37	c.1200C>T	CCDS41770.1																																																																																				0.294	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		19	25	0	0	0	1	0	19	25				
GPR98	84059	broad.mit.edu	37	5	89923208	89923208	+	Missense_Mutation	SNP	C	C	T	rs200197273	byFrequency	TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr5:89923208C>T	ENST00000405460.2	+	7	949	c.853C>T	c.(853-855)Cgt>Tgt	p.R285C		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	285	Calx-beta 3. {ECO:0000305|PubMed:11606593}.				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.R285C(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)		TCCAGTAGTTCGTGGAAAGGA	0.398																																						uc003kju.3																			1	Substitution - Missense(1)	p.R285C(2)|p.V284V(1)	skin(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						c.(853-855)Cgt>Tgt		Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.							146.0	138.0	141.0					5																	89923208		1898	4124	6022	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	g.chr5:89923208C>T	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.853C>T	5.37:g.89923208C>T	ENSP00000384582:p.Arg285Cys		Somatic				GPR98_uc003kjt.3_5'UTR	p.R285C	NM_032119	NP_115495	WXS	Illumina GAIIx	Phase_I	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	6	949	+		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)	285					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.853C>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371596	0.61624	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.43688	0.94	5.7	4.83	0.62350	.	0.047609	0.85682	N	0.000000	T	0.66376	0.2783	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72130	-0.4383	10	0.87932	D	0	.	14.6307	0.68653	0.0:0.9302:0.0:0.0698	.	285	Q8WXG9	GPR98_HUMAN	C	285	ENSP00000384582:R285C	ENSP00000296619:R285C	R	+	1	0	GPR98	89958964	1.000000	0.71417	0.996000	0.52242	0.351000	0.29236	4.297000	0.59061	1.425000	0.47237	0.585000	0.79938	CGT		0.398	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		5	96	0	0	0	1	0	5	96				
WARS	7453	broad.mit.edu	37	14	100808866	100808866	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr14:100808866C>A	ENST00000355338.2	-	9	1600	c.982G>T	c.(982-984)Ggc>Tgc	p.G328C	RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000557135.1_Missense_Mutation_p.G328C|RP11-638I2.9_ENST00000556212.1_RNA|WARS_ENST00000344102.5_Missense_Mutation_p.G287C|WARS_ENST00000358655.4_Missense_Mutation_p.G287C|WARS_ENST00000556645.1_Missense_Mutation_p.G287C|WARS_ENST00000392882.2_Missense_Mutation_p.G328C	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	328					angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	TTAGGATAGCCGATCCTGGGG	0.582																																						uc001yhh.1																			0				breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(982-984)Ggc>Tgc		Homo sapiens tryptophanyl-tRNA synthetase (WARS), transcript variant 1, mRNA.	L-Tryptophan(DB00150)						80.0	77.0	78.0					14																	100808866		2203	4300	6503	SO:0001583	missense	7453				angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity	g.chr14:100808866C>A	M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12729	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 1, cytoplasmic"""	191050		IFI53		1537332, 1763065	Standard	NM_004184		Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.982G>T	14.37:g.100808866C>A	ENSP00000347495:p.Gly328Cys		Somatic				WARS_uc001yhi.1_Missense_Mutation_p.G287C|WARS_uc001yhg.2_Missense_Mutation_p.G328C|WARS_uc001yhl.1_Missense_Mutation_p.G328C|WARS_uc001yhk.1_Missense_Mutation_p.G287C	p.G328C	NM_004184	NP_998811	WXS	Illumina GAIIx	Phase_I	P23381	SYWC_HUMAN			8	1363	-		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)	328					A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	Missense_Mutation	SNP	ENST00000355338.2	37	c.982G>T	CCDS9960.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.401777	0.83120	.	.	ENSG00000140105	ENST00000392882;ENST00000358655;ENST00000355338;ENST00000344102;ENST00000557135;ENST00000556645	T;T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93;-0.93	5.85	4.96	0.65561	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.049408	0.85682	D	0.000000	D	0.87993	0.6318	M	0.92649	3.33	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.89858	0.4014	10	0.87932	D	0	-2.1091	10.91	0.47103	0.0:0.8576:0.0:0.1424	.	328	P23381	SYWC_HUMAN	C	328;287;328;287;328;287	ENSP00000376620:G328C;ENSP00000351481:G287C;ENSP00000347495:G328C;ENSP00000339485:G287C;ENSP00000451460:G328C;ENSP00000451887:G287C	ENSP00000339485:G287C	G	-	1	0	WARS	99878619	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.081000	0.57627	1.477000	0.48234	0.655000	0.94253	GGC		0.582	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414236.1	NM_004184		3	24	0	0	0	1	0	3	24				
XRCC5	7520	broad.mit.edu	37	2	216977742	216977742	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr2:216977742G>A	ENST00000392133.3	+	4	486	c.25G>A	c.(25-27)Gct>Act	p.A9T	XRCC5_ENST00000392132.2_Missense_Mutation_p.A9T			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	9					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		TTTCCAGGCAGCTGTTGTGCT	0.398								Non-homologous end-joining																														uc002vfy.3																			0				endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(25-27)Gct>Act	Non-homologous end-joining	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) (XRCC5), mRNA.							157.0	151.0	153.0					2																	216977742		2203	4300	6503	SO:0001583	missense	7520				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding	g.chr2:216977742G>A	AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"""Ku autoantigen, 80kDa"""	194364	"""X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"""			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.25G>A	2.37:g.216977742G>A	ENSP00000375978:p.Ala9Thr		Somatic					p.A9T	NM_021141	NP_066964	WXS	Illumina GAIIx	Phase_I	P13010	XRCC5_HUMAN		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)	1	165	+		Renal(323;0.0328)	9					A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	ENST00000392133.3	37	c.25G>A	CCDS2402.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688140	0.68271	.	.	ENSG00000079246	ENST00000392133;ENST00000392132	T;T	0.48836	0.8;0.8	5.12	4.24	0.50183	Ku70/Ku80, N-terminal alpha/beta (1);von Willebrand factor, type A (1);	0.063135	0.64402	D	0.000007	T	0.67869	0.2939	M	0.78801	2.425	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.72354	-0.4319	10	0.72032	D	0.01	.	12.7786	0.57464	0.0786:0.0:0.9214:0.0	.	9	P13010	XRCC5_HUMAN	T	9	ENSP00000375978:A9T;ENSP00000375977:A9T	ENSP00000375977:A9T	A	+	1	0	XRCC5	216685987	1.000000	0.71417	1.000000	0.80357	0.350000	0.29205	8.970000	0.93415	1.397000	0.46682	-0.136000	0.14681	GCT		0.398	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	NM_021141		34	60	0	0	0	1	0	34	60				
PKHD1L1	93035	broad.mit.edu	37	8	110410703	110410703	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr8:110410703delT	ENST00000378402.5	+	12	1042	c.938delT	c.(937-939)attfs	p.I313fs		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	313	IPT/TIG 3.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCTTGTGATATTTTGAATGTC	0.368										HNSCC(38;0.096)																												uc003yne.3																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(937-939)attfs		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.							92.0	79.0	83.0					8																	110410703		1827	4074	5901	SO:0001589	frameshift_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110410703delT	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.938delT	8.37:g.110410703delT	ENSP00000367655:p.Ile313fs	HNSCC(38;0.096)	Somatic					p.I313fs	NM_177531	NP_803875	WXS	Illumina GAIIx	Phase_I	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		11	1042	+			313			IPT/TIG 3.		Q567P2|Q9UF27	Frame_Shift_Del	DEL	ENST00000378402.5	37	c.938delT	CCDS47911.1																																																																																				0.368	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		2	4						2	4	---	---	---	---
