#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_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	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
CRYM	1428	broad.mit.edu	37	16	21281137	21281137	+	Missense_Mutation	SNP	A	A	G			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr16:21281137A>G	ENST00000219599.3	-	6	728	c.463T>C	c.(463-465)Ttc>Ctc	p.F155L	CRYM_ENST00000543948.1_Missense_Mutation_p.F155L|CRYM_ENST00000396023.2_Missense_Mutation_p.F155L|CRYM_ENST00000415987.2_Missense_Mutation_p.F113L	NM_001888.3	NP_001879.1	Q14894	CRYM_HUMAN	crystallin, mu	155					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|sensory perception of sound (GO:0007605)|thyroid hormone metabolic process (GO:0042403)|thyroid hormone transport (GO:0070327)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|thiomorpholine-carboxylate dehydrogenase activity (GO:0047127)|thyroid hormone binding (GO:0070324)|transcription corepressor activity (GO:0003714)			large_intestine(1)|lung(3)	4				GBM - Glioblastoma multiforme(48;0.0573)		TGCTCTGTGAAGATCTCATAA	0.522																																						ENST00000219599.3																			0				large_intestine(1)|lung(3)	4						c.(463-465)Ttc>Ctc		crystallin, mu	Levothyroxine(DB00451)						81.0	84.0	83.0					16																	21281137		2199	4300	6499	SO:0001583	missense	1428				negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport	cytoplasm|nucleus|plasma membrane	NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity	g.chr16:21281137A>G		CCDS10597.1	16p12.2	2013-02-14			ENSG00000103316	ENSG00000103316	1.5.1.25		2418	protein-coding gene	gene with protein product	"""thiomorpholine-carboxylate dehydrogenase"""	123740				1478656, 21332720	Standard	NM_001014444		Approved	DFNA40	uc002dim.3	Q14894	OTTHUMG00000090707	ENST00000219599.3:c.463T>C	16.37:g.21281137A>G	ENSP00000219599:p.Phe155Leu					CRYM_ENST00000543948.1_Missense_Mutation_p.F155L|CRYM_ENST00000396023.2_Missense_Mutation_p.F155L|CRYM_ENST00000415987.2_Missense_Mutation_p.F113L	p.F155L	NM_001888.3	NP_001879.1	Q14894	CRYM_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	6	728	-			155					D5MNX0|Q5HYB7	Missense_Mutation	SNP	ENST00000219599.3	37	c.463T>C	CCDS10597.1	.	.	.	.	.	.	.	.	.	.	A	12.73	2.025926	0.35701	.	.	ENSG00000103316	ENST00000543948;ENST00000219599;ENST00000396023;ENST00000415987	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	5.15	5.15	0.70609	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.57315	0.2045	N	0.12663	0.25	0.80722	D	1	B	0.29508	0.246	B	0.37015	0.239	T	0.55418	-0.8144	10	0.02654	T	1	-16.0838	13.9433	0.64069	1.0:0.0:0.0:0.0	.	155	Q14894	CRYM_HUMAN	L	155;155;155;113	ENSP00000440227:F155L;ENSP00000219599:F155L;ENSP00000379341:F155L;ENSP00000390928:F113L	ENSP00000219599:F155L	F	-	1	0	CRYM	21188638	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	6.715000	0.74697	2.144000	0.66660	0.533000	0.62120	TTC		0.522	CRYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207398.1			31	30	0	0	0	1	0	31	30				
ATP12A	479	broad.mit.edu	37	13	25281245	25281245	+	Missense_Mutation	SNP	G	G	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr13:25281245G>T	ENST00000381946.3	+	16	2421	c.2254G>T	c.(2254-2256)Gca>Tca	p.A752S	ATP12A_ENST00000218548.6_Missense_Mutation_p.A758S			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	752					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		CATGGGGATAGCAGGTTCTGA	0.552																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			0				breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(2272-2274)Gca>Tca		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						98.0	81.0	87.0					13																	25281245		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25281245G>T	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.2254G>T	13.37:g.25281245G>T	ENSP00000371372:p.Ala752Ser					ATP12A_ENST00000381946.3_Missense_Mutation_p.A752S	p.A758S	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	16	2605	+		Lung SC(185;0.0225)|Breast(139;0.077)	752					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.2272G>T	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	9.425	1.084071	0.20309	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.99060	-5.38;-5.38	5.81	1.82	0.25136	HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.225564	0.38663	N	0.001613	D	0.92896	0.7740	N	0.01267	-0.92	0.53005	D	0.999969	B;B	0.15719	0.014;0.004	B;B	0.26969	0.075;0.011	D	0.85706	0.1316	10	0.36615	T	0.2	.	5.8829	0.18866	0.151:0.0:0.5814:0.2676	.	758;752	P54707-2;P54707	.;AT12A_HUMAN	S	758;752	ENSP00000218548:A758S;ENSP00000371372:A752S	ENSP00000218548:A758S	A	+	1	0	ATP12A	24179245	0.999000	0.42202	0.744000	0.31058	0.145000	0.21501	0.549000	0.23329	0.323000	0.23307	0.563000	0.77884	GCA		0.552	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		5	35	1	0	1.23904e-05	1	1.27081e-05	5	35				
LILRB5	10990	broad.mit.edu	37	19	54758866	54758866	+	Silent	SNP	C	C	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr19:54758866C>T	ENST00000316219.5	-	6	1094	c.987G>A	c.(985-987)caG>caA	p.Q329Q	LILRB5_ENST00000450632.1_Silent_p.Q320Q|LILRB5_ENST00000345866.6_Silent_p.Q229Q|LILRB5_ENST00000449561.2_Silent_p.Q329Q	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	329					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGGGCCCGGCTGCACCGAGA	0.607																																						ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(958-960)caG>caA		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							28.0	29.0	28.0					19																	54758866		2203	4300	6503	SO:0001819	synonymous_variant	0				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54758866C>T	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.987G>A	19.37:g.54758866C>T						LILRB5_ENST00000316219.5_Silent_p.Q329Q|LILRB5_ENST00000345866.6_Silent_p.Q229Q|LILRB5_ENST00000449561.2_Silent_p.Q329Q	p.Q320Q			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	6	1037	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		329					Q8N760	Silent	SNP	ENST00000316219.5	37	c.960G>A	CCDS12885.1																																																																																				0.607	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			12	2	0	0	0	1	0	12	2				
ADAD1	132612	broad.mit.edu	37	4	123301233	123301233	+	Missense_Mutation	SNP	C	C	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr4:123301233C>A	ENST00000296513.2	+	3	194	c.9C>A	c.(7-9)agC>agA	p.S3R	ADAD1_ENST00000388725.2_Intron|ADAD1_ENST00000388724.2_Missense_Mutation_p.S3R	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	3					multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						AAATGGCTAGCAACAATCATT	0.448																																						ENST00000296513.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(7-9)agC>agA		adenosine deaminase domain containing 1 (testis-specific)							49.0	46.0	47.0					4																	123301233		2203	4300	6503	SO:0001583	missense	132612				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	g.chr4:123301233C>A	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.9C>A	4.37:g.123301233C>A	ENSP00000296513:p.Ser3Arg					ADAD1_ENST00000388724.2_Missense_Mutation_p.S3R|ADAD1_ENST00000388725.2_Intron	p.S3R	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN			3	194	+			3					A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	ENST00000296513.2	37	c.9C>A	CCDS34058.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.897493	0.33535	.	.	ENSG00000164113	ENST00000446706;ENST00000296513;ENST00000439307;ENST00000388724	T;T	0.32753	1.44;1.44	5.22	0.838	0.18902	.	0.991531	0.08196	N	0.983081	T	0.16599	0.0399	N	0.19112	0.55	0.19945	N	0.999949	P;B	0.36909	0.573;0.112	B;B	0.32289	0.143;0.058	T	0.18587	-1.0332	10	0.52906	T	0.07	1.1928	4.2597	0.10735	0.1635:0.4708:0.0:0.3658	.	3;3	Q96M93-2;Q96M93	.;ADAD1_HUMAN	R	3	ENSP00000296513:S3R;ENSP00000373376:S3R	ENSP00000296513:S3R	S	+	3	2	ADAD1	123520683	0.997000	0.39634	0.399000	0.26333	0.779000	0.44077	0.353000	0.20130	0.186000	0.20125	0.555000	0.69702	AGC		0.448	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243		11	19	1	0	0.000151284	1	0.000153199	11	19				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			0							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			4	14	0	0	0	1	0	4	14				
CATSPERB	79820	broad.mit.edu	37	14	92055893	92055893	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr14:92055893G>A	ENST00000256343.3	-	24	3097	c.2941C>T	c.(2941-2943)Cac>Tac	p.H981Y		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	981					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TTCCAGTTGTGCCTCATGTTC	0.363																																						ENST00000256343.3																			0				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54						c.(2941-2943)Cac>Tac		catsper channel auxiliary subunit beta							105.0	98.0	101.0					14																	92055893		2203	4300	6503	SO:0001583	missense	79820				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr14:92055893G>A	AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.2941C>T	14.37:g.92055893G>A	ENSP00000256343:p.His981Tyr						p.H981Y	NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN			24	3097	-		all_cancers(154;0.0663)|all_epithelial(191;0.236)	981					A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	c.2941C>T	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	G	6.253	0.414794	0.11870	.	.	ENSG00000133962	ENST00000256343	T	0.42900	0.96	5.1	-2.29	0.06805	.	1.409480	0.04577	N	0.394273	T	0.23094	0.0558	N	0.08118	0	0.19575	N	0.999969	B	0.15930	0.015	B	0.22601	0.04	T	0.29181	-1.0020	10	0.59425	D	0.04	-1.1378	5.2022	0.15271	0.0:0.3299:0.2847:0.3854	.	981	Q9H7T0	CTSRB_HUMAN	Y	981	ENSP00000256343:H981Y	ENSP00000256343:H981Y	H	-	1	0	CATSPERB	91125646	0.293000	0.24371	0.398000	0.26321	0.061000	0.15899	-0.762000	0.04745	-0.478000	0.06823	-0.397000	0.06425	CAC		0.363	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764		14	48	0	0	0	1	0	14	48				
RELN	5649	broad.mit.edu	37	7	103234846	103234846	+	Silent	SNP	C	C	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr7:103234846C>T	ENST00000428762.1	-	26	3792	c.3633G>A	c.(3631-3633)caG>caA	p.Q1211Q	RELN_ENST00000424685.2_Silent_p.Q1211Q|RELN_ENST00000343529.5_Silent_p.Q1211Q	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1211					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CGACTGCCCACTGGTCATAGT	0.507																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(3631-3633)caG>caA		reelin							240.0	231.0	234.0					7																	103234846		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103234846C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3633G>A	7.37:g.103234846C>T						RELN_ENST00000343529.5_Silent_p.Q1211Q|RELN_ENST00000424685.2_Silent_p.Q1211Q	p.Q1211Q	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	26	3792	-			1211					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.3633G>A	CCDS47680.1																																																																																				0.507	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		10	264	0	0	0	1	0	10	264				
SLC16A2	6567	broad.mit.edu	37	X	73740894	73740894	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:73740894G>A	ENST00000587091.1	+	2	677	c.500G>A	c.(499-501)cGt>cAt	p.R167H	SLC16A2_ENST00000276033.5_Missense_Mutation_p.R241H	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	167					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	TTCACTGACCGTTTGGGCTGC	0.512																																						ENST00000276033.5																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21						c.(721-723)cGt>cAt		solute carrier family 16, member 2 (thyroid hormone transporter)	Pyruvic acid(DB00119)						131.0	113.0	119.0					X																	73740894		2203	4300	6503	SO:0001583	missense	6567					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chrX:73740894G>A		CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"""Solute carriers"""	10923	protein-coding gene	gene with protein product		300095	"""solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)"", ""Allan-Herndon-Dudley syndrome"", ""solute carrier family 16 (monocarboxylic acid transporters), member 2"", ""mental retardation, X-linked 22"", ""solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"""	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.500G>A	X.37:g.73740894G>A	ENSP00000465734:p.Arg167His					SLC16A2_ENST00000587091.1_Missense_Mutation_p.R167H	p.R241H			P36021	MOT8_HUMAN			2	888	+			167					Q7Z797	Missense_Mutation	SNP	ENST00000587091.1	37	c.722G>A	CCDS14426.2	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357492	0.61293	.	.	ENSG00000147100	ENST00000276033	T	0.65549	-0.16	5.9	5.9	0.94986	Major facilitator superfamily domain, general substrate transporter (1);	0.110904	0.64402	D	0.000018	T	0.62011	0.2393	L	0.52905	1.665	0.49687	D	0.999817	P	0.41420	0.749	B	0.41174	0.349	T	0.59322	-0.7476	10	0.27785	T	0.31	.	18.7779	0.91918	0.0:0.0:1.0:0.0	.	167	P36021	MOT8_HUMAN	H	241	ENSP00000276033:R241H	ENSP00000276033:R241H	R	+	2	0	SLC16A2	73657619	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.782000	0.38654	2.479000	0.83701	0.597000	0.82753	CGT		0.512	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057266.3			48	70	0	0	0	1	0	48	70				
CR1	1378	broad.mit.edu	37	1	207741294	207741294	+	Missense_Mutation	SNP	T	T	C			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr1:207741294T>C	ENST00000367049.4	+	25	4078	c.4078T>C	c.(4078-4080)Ttc>Ctc	p.F1360L	CR1_ENST00000367053.1_Missense_Mutation_p.F910L|CR1_ENST00000367051.1_Missense_Mutation_p.F910L|CR1_ENST00000400960.2_Missense_Mutation_p.F910L|CR1_ENST00000367052.1_Intron|RP11-78B10.2_ENST00000597497.1_RNA|RP11-78B10.2_ENST00000596003.1_RNA	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	910	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGGGACGAGCTTCGACCTCAT	0.532																																						ENST00000367049.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(4078-4080)Ttc>Ctc		complement component (3b/4b) receptor 1 (Knops blood group)							98.0	117.0	111.0					1																	207741294		1826	4089	5915	SO:0001583	missense	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207741294T>C	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.4078T>C	1.37:g.207741294T>C	ENSP00000356016:p.Phe1360Leu					RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367053.1_Missense_Mutation_p.F910L|CR1_ENST00000367051.1_Missense_Mutation_p.F910L|CR1_ENST00000400960.2_Missense_Mutation_p.F910L|CR1_ENST00000367052.1_Intron	p.F1360L	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			25	4078	+			910			Sushi 21.		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	c.4078T>C	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	t	10.26	1.301554	0.23736	.	.	ENSG00000203710	ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	2.73	1.61	0.23674	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.45216	0.1331	M	0.81341	2.54	0.09310	N	1	D;B;B;B	0.69078	0.997;0.409;0.035;0.331	D;B;B;B	0.71870	0.975;0.241;0.039;0.103	T	0.18713	-1.0328	9	0.48119	T	0.1	.	4.4297	0.11522	0.0:0.1587:0.0:0.8413	.	910;460;910;1360	Q5SR44;E9PQN4;P17927;E9PDY4	.;.;CR1_HUMAN;.	L	910;910;910;1360	ENSP00000356018:F910L;ENSP00000356020:F910L;ENSP00000383744:F910L;ENSP00000356016:F1360L	ENSP00000356016:F1360L	F	+	1	0	CR1	205807917	0.007000	0.16637	0.003000	0.11579	0.041000	0.13682	0.920000	0.28705	0.490000	0.27771	0.402000	0.26972	TTC		0.532	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		46	98	0	0	0	1	0	46	98				
LGALS1	3956	broad.mit.edu	37	22	38075664	38075664	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr22:38075664G>A	ENST00000215909.5	+	4	411	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	LGALS1_ENST00000489315.1_3'UTR	NM_002305.3	NP_002296.1	P09382	LEG1_HUMAN	lectin, galactoside-binding, soluble, 1	106	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|cellular response to glucose stimulus (GO:0071333)|cellular response to organic cyclic compound (GO:0071407)|multicellular organismal response to stress (GO:0033555)|myoblast differentiation (GO:0045445)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of neuron projection development (GO:0010977)|plasma cell differentiation (GO:0002317)|positive regulation of erythrocyte aggregation (GO:0034120)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	galactoside binding (GO:0016936)|lactose binding (GO:0030395)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)	p.E106K(1)		endometrium(1)|large_intestine(1)|lung(1)	3	Melanoma(58;0.0574)					AGATGGATACGAATTCAAGTT	0.567																																					Pancreas(23;406 890 14304 26016)	ENST00000215909.5																			1	Substitution - Missense(1)	p.E106K(1)	large_intestine(1)	endometrium(1)|large_intestine(1)|lung(1)	3						c.(316-318)Gaa>Aaa		lectin, galactoside-binding, soluble, 1							140.0	102.0	115.0					22																	38075664		2203	4300	6503	SO:0001583	missense	3956				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of apoptosis	cytoplasm|extracellular space|proteinaceous extracellular matrix	galactoside binding|signal transducer activity	g.chr22:38075664G>A		CCDS13954.1	22q13.1	2014-01-30	2008-07-25		ENSG00000100097	ENSG00000100097		"""Lectins, galactoside-binding"", ""Endogenous ligands"""	6561	protein-coding gene	gene with protein product	"""galectin 1"""	150570				1988031, 12271131	Standard	NM_002305		Approved	GBP	uc003atn.3	P09382	OTTHUMG00000150661	ENST00000215909.5:c.316G>A	22.37:g.38075664G>A	ENSP00000215909:p.Glu106Lys					LGALS1_ENST00000489315.1_3'UTR	p.E106K	NM_002305.3	NP_002296.1	P09382	LEG1_HUMAN			4	411	+	Melanoma(58;0.0574)		106			Galectin.		B2R5E8|Q9UDK5	Missense_Mutation	SNP	ENST00000215909.5	37	c.316G>A	CCDS13954.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.141473	0.37825	.	.	ENSG00000100097	ENST00000215909	T	0.05513	3.43	6.08	-12.2	0.00006	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	1.762380	0.02920	N	0.137886	T	0.04861	0.0131	L	0.49778	1.585	0.09310	N	1	B	0.27316	0.175	B	0.32211	0.142	T	0.28744	-1.0034	10	0.09084	T	0.74	-8.015	4.5201	0.11956	0.0818:0.2123:0.4143:0.2915	.	106	P09382	LEG1_HUMAN	K	106	ENSP00000215909:E106K	ENSP00000215909:E106K	E	+	1	0	LGALS1	36405610	0.000000	0.05858	0.000000	0.03702	0.325000	0.28411	-0.895000	0.04118	-2.540000	0.00486	-0.895000	0.02911	GAA		0.567	LGALS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319482.1	NM_002305		28	30	0	0	0	1	0	28	30				
MAGEA4	4103	broad.mit.edu	37	X	151092299	151092299	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:151092299C>T	ENST00000360243.2	+	3	430	c.163C>T	c.(163-165)Cct>Tct	p.P55S	MAGEA4_ENST00000393921.1_Missense_Mutation_p.P55S|MAGEA4_ENST00000393920.1_Missense_Mutation_p.P55S|MAGEA4_ENST00000370335.1_Missense_Mutation_p.P55S|MAGEA4_ENST00000370337.4_Missense_Mutation_p.P55S|MAGEA4_ENST00000276344.2_Missense_Mutation_p.P55S|MAGEA4_ENST00000370340.3_Missense_Mutation_p.P55S	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	55										breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGGAAGTGCCTGCTGCTGA	0.627																																						ENST00000370335.1																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27						c.(163-165)Cct>Tct		melanoma antigen family A, 4							69.0	65.0	66.0					X																	151092299		2203	4300	6503	SO:0001583	missense	4103						protein binding	g.chrX:151092299C>T		CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"""melanoma-associated antigen 4"", ""cancer/testis antigen family 1, member 4"""	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.163C>T	X.37:g.151092299C>T	ENSP00000353379:p.Pro55Ser					MAGEA4_ENST00000276344.2_Missense_Mutation_p.P55S|MAGEA4_ENST00000393920.1_Missense_Mutation_p.P55S|MAGEA4_ENST00000370340.3_Missense_Mutation_p.P55S|MAGEA4_ENST00000393921.1_Missense_Mutation_p.P55S|MAGEA4_ENST00000360243.2_Missense_Mutation_p.P55S|MAGEA4_ENST00000370337.4_Missense_Mutation_p.P55S	p.P55S			P43358	MAGA4_HUMAN			3	430	+	Acute lymphoblastic leukemia(192;6.56e-05)		55					Q14798	Missense_Mutation	SNP	ENST00000360243.2	37	c.163C>T	CCDS14702.1	.	.	.	.	.	.	.	.	.	.	C	0.078	-1.189697	0.01607	.	.	ENSG00000147381	ENST00000431963;ENST00000276344;ENST00000448295;ENST00000393921;ENST00000430273;ENST00000370337;ENST00000441865;ENST00000393920;ENST00000370340;ENST00000416020;ENST00000425182;ENST00000457310;ENST00000370335;ENST00000360243;ENST00000431971	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.06294	3.32;3.32;3.32;3.32;3.32;3.32;3.32;3.32;3.32;3.32;3.32;3.32;3.32;3.32;3.32	2.2	-4.39	0.03611	Melanoma associated antigen, MAGE, N-terminal (1);	2.171440	0.01986	N	0.045188	T	0.06096	0.0158	L	0.39514	1.22	0.09310	N	1	B	0.20368	0.044	B	0.26614	0.071	T	0.35276	-0.9795	10	0.20046	T	0.44	.	4.9776	0.14148	0.0:0.4957:0.2461:0.2582	.	55	P43358	MAGA4_HUMAN	S	55	ENSP00000387777:P55S;ENSP00000276344:P55S;ENSP00000391904:P55S;ENSP00000377498:P55S;ENSP00000394149:P55S;ENSP00000359362:P55S;ENSP00000402624:P55S;ENSP00000377497:P55S;ENSP00000359365:P55S;ENSP00000394073:P55S;ENSP00000400900:P55S;ENSP00000402186:P55S;ENSP00000359360:P55S;ENSP00000353379:P55S;ENSP00000390096:P55S	ENSP00000276344:P55S	P	+	1	0	MAGEA4	150842955	.	.	0.000000	0.03702	0.004000	0.04260	.	.	-1.681000	0.01448	-0.422000	0.05995	CCT		0.627	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1	NM_002362		25	58	0	0	0	1	0	25	58				
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|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 transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	tumor protein p53							50.0	50.0	50.0					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H	p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	656	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		58	8	0	0	0	1	0	58	8				
USP24	23358	broad.mit.edu	37	1	55561033	55561033	+	Missense_Mutation	SNP	T	T	G			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr1:55561033T>G	ENST00000294383.6	-	51	6097	c.6098A>C	c.(6097-6099)aAt>aCt	p.N2033T	USP24_ENST00000407756.1_Missense_Mutation_p.N1873T	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2033	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CATATAGGCATTCCAGTATCT	0.403																																						ENST00000294383.6																			0				breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(6097-6099)aAt>aCt		ubiquitin specific peptidase 24							77.0	78.0	77.0					1																	55561033		2201	4299	6500	SO:0001583	missense	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55561033T>G	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.6098A>C	1.37:g.55561033T>G	ENSP00000294383:p.Asn2033Thr					USP24_ENST00000407756.1_Missense_Mutation_p.N1873T	p.N2033T	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN			51	6097	-			2033					Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	c.6098A>C	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	T	27.8	4.868206	0.91587	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.28454	1.61;1.61	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.56470	0.1987	M	0.85299	2.745	0.58432	D	0.999999	D	0.61080	0.989	P	0.57244	0.816	T	0.63989	-0.6512	10	0.87932	D	0	.	16.5724	0.84622	0.0:0.0:0.0:1.0	.	1873	B7WPF4	.	T	2033;1873	ENSP00000294383:N2033T;ENSP00000385700:N1873T	ENSP00000294383:N2033T	N	-	2	0	USP24	55333621	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.671000	0.83941	2.313000	0.78055	0.455000	0.32223	AAT		0.403	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			8	11	0	0	0	1	0	8	11				
APOL3	80833	broad.mit.edu	37	22	36537770	36537770	+	Silent	SNP	C	C	T	rs146525352	byFrequency	TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr22:36537770C>T	ENST00000349314.2	-	3	724	c.687G>A	c.(685-687)gcG>gcA	p.A229A	APOL3_ENST00000424878.2_Silent_p.A29A|APOL3_ENST00000487423.1_5'UTR|APOL3_ENST00000397293.2_Silent_p.A158A|APOL3_ENST00000361710.2_Silent_p.A29A|APOL3_ENST00000397287.2_Silent_p.A29A	NM_145640.2	NP_663615.1	O95236	APOL3_HUMAN	apolipoprotein L, 3	229					inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|signal transducer activity (GO:0004871)			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						TCACAGCAGACGCTGCTCCCA	0.567																																						ENST00000424878.2																			0				endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						c.(85-87)gcG>gcA		apolipoprotein L, 3		T	,,	1,4405	2.1+/-5.4	0,1,2202	58.0	47.0	51.0		687,87,87	-8.6	0.0	22	dbSNP_134	51	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	APOL3	NM_145640.2,NM_145641.2,NM_145642.2	,,	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	,,	229/403,29/203,29/203	36537770	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	80833				inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity	g.chr22:36537770C>T	AF305227	CCDS13922.1, CCDS13924.1	22q13.1	2013-01-24			ENSG00000128284	ENSG00000128284		"""Apolipoproteins"""	14868	protein-coding gene	gene with protein product		607253				11374903	Standard	NM_145640		Approved	CG12-1, APOLIII	uc003aot.3	O95236	OTTHUMG00000150632	ENST00000349314.2:c.687G>A	22.37:g.36537770C>T						APOL3_ENST00000397287.2_Silent_p.A29A|APOL3_ENST00000361710.2_Silent_p.A29A|APOL3_ENST00000397293.2_Silent_p.A158A|APOL3_ENST00000349314.2_Silent_p.A229A|APOL3_ENST00000487423.1_5'UTR	p.A29A			O95236	APOL3_HUMAN			4	2235	-			229					B1AHI4|B1AHI5|Q5U5N4|Q9BQ82|Q9BQA3	Silent	SNP	ENST00000349314.2	37	c.87G>A	CCDS13922.1																																																																																				0.567	APOL3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319268.1	NM_145641		15	20	0	0	0	1	0	15	20				
TIMELESS	8914	broad.mit.edu	37	12	56811559	56811559	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr12:56811559C>T	ENST00000553532.1	-	29	3718	c.3568G>A	c.(3568-3570)Gga>Aga	p.G1190R	TIMELESS_ENST00000554616.1_Missense_Mutation_p.G687R|TIMELESS_ENST00000229201.4_Missense_Mutation_p.G1189R					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CCTGGAGCTCCCAACTCTGGT	0.453																																						ENST00000229201.4																			0				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						c.(3565-3567)Gga>Aga		timeless circadian clock							120.0	108.0	112.0					12																	56811559		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56811559C>T	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.3568G>A	12.37:g.56811559C>T	ENSP00000450607:p.Gly1190Arg					TIMELESS_ENST00000554616.1_Missense_Mutation_p.G687R|TIMELESS_ENST00000553532.1_Missense_Mutation_p.G1190R	p.G1189R	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN			29	3719	-			1190						Missense_Mutation	SNP	ENST00000553532.1	37	c.3565G>A	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	C	8.007	0.756682	0.15846	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.12255	3.25;3.25;2.7	4.17	0.0667	0.14362	.	1.027230	0.07733	N	0.945522	T	0.09158	0.0226	L	0.35723	1.085	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.44128	-0.9348	10	0.13470	T	0.59	-1.2746	3.6368	0.08151	0.0:0.4704:0.1891:0.3405	.	1190	Q9UNS1	TIM_HUMAN	R	1189;1190;687	ENSP00000229201:G1189R;ENSP00000450607:G1190R;ENSP00000450848:G687R	ENSP00000229201:G1190R	G	-	1	0	TIMELESS	55097826	0.006000	0.16342	0.000000	0.03702	0.038000	0.13279	0.169000	0.16641	0.007000	0.14760	-0.218000	0.12543	GGA		0.453	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		33	37	0	0	0	1	0	33	37				
CXorf22	170063	broad.mit.edu	37	X	35959495	35959495	+	Missense_Mutation	SNP	C	C	G	rs200468650		TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:35959495C>G	ENST00000297866.5	+	3	563	c.497C>G	c.(496-498)aCt>aGt	p.T166S		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	166										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ATTACTATCACTAACCATGGC	0.333																																						ENST00000297866.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(496-498)aCt>aGt		chromosome X open reading frame 22							58.0	55.0	56.0					X																	35959495		2202	4296	6498	SO:0001583	missense	170063							g.chrX:35959495C>G	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.497C>G	X.37:g.35959495C>G	ENSP00000297866:p.Thr166Ser						p.T166S	NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN			3	563	+			166					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.497C>G	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	C	0	-2.620900	0.00118	.	.	ENSG00000165164	ENST00000297866	T	0.45276	0.9	5.71	-5.11	0.02901	.	1.010270	0.07926	N	0.976663	T	0.19805	0.0476	L	0.27053	0.805	0.09310	N	1	B	0.16396	0.017	B	0.10450	0.005	T	0.31364	-0.9946	10	0.07644	T	0.81	-14.4154	3.447	0.07484	0.1153:0.3591:0.3443:0.1813	.	166	Q6ZTR5	CX022_HUMAN	S	166	ENSP00000297866:T166S	ENSP00000297866:T166S	T	+	2	0	CXorf22	35869416	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.728000	0.04925	-1.056000	0.03205	-3.006000	0.00076	ACT		0.333	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		12	31	0	0	0	1	0	12	31				
TRIOBP	11078	broad.mit.edu	37	22	38121461	38121461	+	Silent	SNP	C	C	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr22:38121461C>T	ENST00000406386.3	+	7	3153	c.2898C>T	c.(2896-2898)ggC>ggT	p.G966G		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	966					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCTCCTTTGGCCCCACCCAGT	0.647																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(2896-2898)ggC>ggT		TRIO and F-actin binding protein							115.0	136.0	129.0					22																	38121461		2070	4207	6277	SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38121461C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2898C>T	22.37:g.38121461C>T						RP1-37E16.12_ENST00000455236.1_RNA	p.G966G	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	3153	+	Melanoma(58;0.0574)		966					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.2898C>T	CCDS43015.1																																																																																				0.647	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			4	174	0	0	0	1	0	4	174				
MAGEA4	4103	broad.mit.edu	37	X	151092272	151092272	+	Missense_Mutation	SNP	C	C	G			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:151092272C>G	ENST00000360243.2	+	3	403	c.136C>G	c.(136-138)Ctg>Gtg	p.L46V	MAGEA4_ENST00000393921.1_Missense_Mutation_p.L46V|MAGEA4_ENST00000393920.1_Missense_Mutation_p.L46V|MAGEA4_ENST00000370335.1_Missense_Mutation_p.L46V|MAGEA4_ENST00000370337.4_Missense_Mutation_p.L46V|MAGEA4_ENST00000276344.2_Missense_Mutation_p.L46V|MAGEA4_ENST00000370340.3_Missense_Mutation_p.L46V	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	46										breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTCTCCTCTGGTCCCTGG	0.627																																						ENST00000370335.1																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27						c.(136-138)Ctg>Gtg		melanoma antigen family A, 4							60.0	56.0	57.0					X																	151092272		2203	4300	6503	SO:0001583	missense	4103						protein binding	g.chrX:151092272C>G		CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"""melanoma-associated antigen 4"", ""cancer/testis antigen family 1, member 4"""	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.136C>G	X.37:g.151092272C>G	ENSP00000353379:p.Leu46Val					MAGEA4_ENST00000276344.2_Missense_Mutation_p.L46V|MAGEA4_ENST00000393920.1_Missense_Mutation_p.L46V|MAGEA4_ENST00000370340.3_Missense_Mutation_p.L46V|MAGEA4_ENST00000393921.1_Missense_Mutation_p.L46V|MAGEA4_ENST00000360243.2_Missense_Mutation_p.L46V|MAGEA4_ENST00000370337.4_Missense_Mutation_p.L46V	p.L46V			P43358	MAGA4_HUMAN			3	403	+	Acute lymphoblastic leukemia(192;6.56e-05)		46					Q14798	Missense_Mutation	SNP	ENST00000360243.2	37	c.136C>G	CCDS14702.1	.	.	.	.	.	.	.	.	.	.	C	5.669	0.307998	0.10733	.	.	ENSG00000147381	ENST00000431963;ENST00000276344;ENST00000448295;ENST00000393921;ENST00000430273;ENST00000370337;ENST00000441865;ENST00000393920;ENST00000370340;ENST00000416020;ENST00000425182;ENST00000457310;ENST00000370335;ENST00000360243;ENST00000431971	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.05081	3.5;3.5;3.5;3.5;3.5;3.5;3.5;3.5;3.5;3.5;3.5;3.5;3.5;3.5;3.5	2.0	-0.0416	0.13867	Melanoma associated antigen, MAGE, N-terminal (1);	2.751440	0.01729	N	0.028773	T	0.07548	0.0190	L	0.46947	1.48	0.09310	N	1	P	0.39424	0.673	B	0.39465	0.3	T	0.27262	-1.0079	10	0.27082	T	0.32	.	3.7152	0.08435	0.2816:0.4446:0.2738:0.0	.	46	P43358	MAGA4_HUMAN	V	46	ENSP00000387777:L46V;ENSP00000276344:L46V;ENSP00000391904:L46V;ENSP00000377498:L46V;ENSP00000394149:L46V;ENSP00000359362:L46V;ENSP00000402624:L46V;ENSP00000377497:L46V;ENSP00000359365:L46V;ENSP00000394073:L46V;ENSP00000400900:L46V;ENSP00000402186:L46V;ENSP00000359360:L46V;ENSP00000353379:L46V;ENSP00000390096:L46V	ENSP00000276344:L46V	L	+	1	2	MAGEA4	150842928	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.288000	0.02783	-0.106000	0.12110	0.436000	0.28706	CTG		0.627	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1	NM_002362		31	51	0	0	0	1	0	31	51				
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S166S(4)	urinary_tract(2)|lung(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(496-498)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414346		1434	3114	4548	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414346G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.498C>T	9.37:g.20414346G>A						MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.S166S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	784	-			166			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.498C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	42	0	0	0	1	0	4	42				
UGT2B7	7364	broad.mit.edu	37	4	69962277	69962277	+	Silent	SNP	A	A	G			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr4:69962277A>G	ENST00000508661.1	+	1	66	c.39A>G	c.(37-39)caA>caG	p.Q13Q	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000305231.7_Silent_p.Q13Q			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	13					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TGCTAATACAACTGAGCTTTT	0.413																																						ENST00000305231.7																			0				autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(37-39)caA>caG		UDP glucuronosyltransferase 2 family, polypeptide B7							136.0	135.0	136.0					4																	69962277		2203	4300	6503	SO:0001819	synonymous_variant	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69962277A>G	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.39A>G	4.37:g.69962277A>G						UGT2B7_ENST00000508661.1_Silent_p.Q13Q|UGT2B7_ENST00000509763.1_Intron	p.Q13Q	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN			1	85	+			13					B2R810|Q6GTW0	Silent	SNP	ENST00000508661.1	37	c.39A>G																																																																																					0.413	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074		4	106	0	0	0	1	0	4	106				
XKR9	389668	broad.mit.edu	37	8	71619293	71619293	+	Missense_Mutation	SNP	T	T	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr8:71619293T>A	ENST00000408926.3	+	4	932	c.398T>A	c.(397-399)aTg>aAg	p.M133K	XKR9_ENST00000520273.1_3'UTR|XKR9_ENST00000520030.1_Missense_Mutation_p.M133K	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	133						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			GATTTGAGCATGCTCAGACTA	0.388																																						ENST00000408926.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(397-399)aTg>aAg		XK, Kell blood group complex subunit-related family, member 9							145.0	136.0	139.0					8																	71619293		2203	4300	6503	SO:0001583	missense	389668					integral to membrane		g.chr8:71619293T>A	AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 9"""				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.398T>A	8.37:g.71619293T>A	ENSP00000386141:p.Met133Lys					XKR9_ENST00000520030.1_Missense_Mutation_p.M133K|XKR9_ENST00000520273.1_3'UTR	p.M133K	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)		4	932	+	Breast(64;0.0716)		133					B2RNS9|B9EH74	Missense_Mutation	SNP	ENST00000408926.3	37	c.398T>A	CCDS34905.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.155541	0.78114	.	.	ENSG00000221947	ENST00000408926;ENST00000520030	T;T	0.69175	-0.38;-0.38	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.82706	0.5095	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85178	0.1002	10	0.59425	D	0.04	-17.4919	13.4788	0.61324	0.0:0.0:0.0:1.0	.	133	Q5GH70	XKR9_HUMAN	K	133	ENSP00000386141:M133K;ENSP00000431088:M133K	ENSP00000386141:M133K	M	+	2	0	XKR9	71781847	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.564000	0.67359	2.014000	0.59158	0.460000	0.39030	ATG		0.388	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	NM_001011720		37	64	0	0	0	1	0	37	64				
PAQR8	85315	broad.mit.edu	37	6	52268814	52268814	+	Missense_Mutation	SNP	A	A	G			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr6:52268814A>G	ENST00000442253.2	+	2	977	c.803A>G	c.(802-804)gAg>gGg	p.E268G	PAQR8_ENST00000360726.3_Missense_Mutation_p.E268G	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	268					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					CCCGTGCCTGAGAAGTACTTC	0.572																																						ENST00000442253.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17						c.(802-804)gAg>gGg		progestin and adipoQ receptor family member VIII							121.0	108.0	112.0					6																	52268814		2203	4300	6503	SO:0001583	missense	85315				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr6:52268814A>G	AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"""chromosome 6 open reading frame 33"""	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.803A>G	6.37:g.52268814A>G	ENSP00000406197:p.Glu268Gly					PAQR8_ENST00000360726.3_Missense_Mutation_p.E268G	p.E268G	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN			2	977	+	Lung NSC(77;0.0875)		268					B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Missense_Mutation	SNP	ENST00000442253.2	37	c.803A>G	CCDS4941.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.436775	0.83885	.	.	ENSG00000170915	ENST00000442253;ENST00000360726	T;T	0.60548	0.18;0.18	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.76328	0.3972	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81780	-0.0776	9	.	.	.	-9.1117	15.0376	0.71761	1.0:0.0:0.0:0.0	.	268	Q8TEZ7	MPRB_HUMAN	G	268	ENSP00000406197:E268G;ENSP00000353953:E268G	.	E	+	2	0	PAQR8	52376773	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.339000	0.96797	2.147000	0.66899	0.533000	0.62120	GAG		0.572	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2	NM_133367		37	39	0	0	0	1	0	37	39				
RC3H2	54542	broad.mit.edu	37	9	125639774	125639774	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr9:125639774G>A	ENST00000373670.1	-	8	1901	c.1301C>T	c.(1300-1302)gCc>gTc	p.A434V	RC3H2_ENST00000373665.2_Missense_Mutation_p.A434V|RC3H2_ENST00000335387.5_Missense_Mutation_p.A434V|RC3H2_ENST00000357244.2_Missense_Mutation_p.A434V|SNORD90_ENST00000391145.1_RNA|RC3H2_ENST00000423239.2_Missense_Mutation_p.A434V			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	434					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CTGAGAATGGGCAAATGTACA	0.393																																						ENST00000373670.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1300-1302)gCc>gTc		ring finger and CCCH-type domains 2							291.0	282.0	285.0					9																	125639774		1858	4094	5952	SO:0001583	missense	54542					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	g.chr9:125639774G>A	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.1301C>T	9.37:g.125639774G>A	ENSP00000362774:p.Ala434Val					RC3H2_ENST00000423239.2_Missense_Mutation_p.A434V|RC3H2_ENST00000373665.2_Missense_Mutation_p.A434V|RC3H2_ENST00000357244.2_Missense_Mutation_p.A434V|RC3H2_ENST00000335387.5_Missense_Mutation_p.A434V	p.A434V			Q9HBD1	RC3H2_HUMAN			8	1901	-			434					Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	c.1301C>T	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	G	36	5.681788	0.96774	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239;ENST00000373665;ENST00000335387	T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48	5.54	5.54	0.83059	Zinc finger, CCCH-type (3);	0.051862	0.85682	D	0.000000	T	0.72374	0.3452	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.997;0.996	D;D;D;D	0.97110	1.0;1.0;0.983;0.971	T	0.74500	-0.3645	10	0.87932	D	0	-11.1792	18.4783	0.90800	0.0:0.0:1.0:0.0	.	434;305;434;434	A6NHN2;Q4VXB0;Q9HBD1;Q9HBD1-4	.;.;RC3H2_HUMAN;.	V	434;434;305;434;434;434	ENSP00000362774:A434V;ENSP00000349783:A434V;ENSP00000411767:A434V;ENSP00000362769:A434V;ENSP00000335150:A434V	ENSP00000335150:A434V	A	-	2	0	RC3H2	124679595	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.859000	0.99545	2.627000	0.88993	0.637000	0.83480	GCC		0.393	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		4	211	0	0	0	1	0	4	211				
BCL9	607	broad.mit.edu	37	1	147091170	147091170	+	Missense_Mutation	SNP	A	A	C			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr1:147091170A>C	ENST00000234739.3	+	8	1949	c.1209A>C	c.(1207-1209)gaA>gaC	p.E403D		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	403	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AAAAACCAGAAGGGCCAATAC	0.542			T	"""IGH@, IGL@"""	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"""IGH@, IGL@"""		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(1207-1209)gaA>gaC		B-cell CLL/lymphoma 9							53.0	64.0	61.0					1																	147091170		2202	4299	6501	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147091170A>C	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1209A>C	1.37:g.147091170A>C	ENSP00000234739:p.Glu403Asp						p.E403D	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			8	1949	+	all_hematologic(923;0.115)		403			Pro-rich.		Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.1209A>C	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.967638	0.53507	.	.	ENSG00000116128	ENST00000234739	T	0.75154	-0.91	5.16	2.81	0.32909	.	0.097194	0.64402	N	0.000001	T	0.73505	0.3595	M	0.61703	1.905	0.34117	D	0.663687	D;D	0.63880	0.993;0.993	D;D	0.70016	0.967;0.967	T	0.74318	-0.3704	10	0.59425	D	0.04	-7.7526	7.4134	0.27029	0.8022:0.0:0.0699:0.1279	.	403;403	Q1JQ81;O00512	.;BCL9_HUMAN	D	403	ENSP00000234739:E403D	ENSP00000234739:E403D	E	+	3	2	BCL9	145557794	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.411000	0.52672	0.501000	0.28013	0.529000	0.55759	GAA		0.542	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		31	51	0	0	0	1	0	31	51				
FAT2	2196	broad.mit.edu	37	5	150885459	150885459	+	Silent	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr5:150885459G>A	ENST00000261800.5	-	23	12729	c.12717C>T	c.(12715-12717)ctC>ctT	p.L4239L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4239					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACGGGGTGGGAGAGGTGCCC	0.627																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(12715-12717)ctC>ctT		FAT atypical cadherin 2							101.0	117.0	112.0					5																	150885459		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150885459G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.12717C>T	5.37:g.150885459G>A							p.L4239L	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		23	12729	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	4239					O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.12717C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	9.349	1.065139	0.20067	.	.	ENSG00000086570	ENST00000520200	.	.	.	5.02	2.06	0.26882	.	.	.	.	.	T	0.53126	0.1777	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46843	-0.9162	4	.	.	.	.	6.4204	0.21740	0.1456:0.0:0.6027:0.2517	.	.	.	.	S	1012	.	.	P	-	1	0	FAT2	150865652	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.930000	0.40124	1.101000	0.41535	0.561000	0.74099	CCC		0.627	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		4	111	0	0	0	1	0	4	111				
ATP6AP1	537	broad.mit.edu	37	X	153664056	153664056	+	Missense_Mutation	SNP	A	A	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:153664056A>T	ENST00000369762.2	+	10	1293	c.1232A>T	c.(1231-1233)cAg>cTg	p.Q411L	GDI1_ENST00000447750.2_5'Flank	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	411					ATP hydrolysis coupled proton transport (GO:0015991)|establishment of organelle localization (GO:0051656)|pH reduction (GO:0045851)|positive regulation of bone resorption (GO:0045780)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoclast development (GO:2001206)|proton transport (GO:0015992)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuole (GO:0005773)	ATP binding (GO:0005524)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATGGGGGAGCAGTTCTCCTAC	0.597																																						ENST00000369762.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14						c.(1231-1233)cAg>cTg		ATPase, H+ transporting, lysosomal accessory protein 1							167.0	158.0	161.0					X																	153664056		2203	4300	6503	SO:0001583	missense	537				ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chrX:153664056A>T	D16469	CCDS35451.1	Xq28	2010-03-10	2003-08-28	2003-08-29	ENSG00000071553	ENSG00000071553			868	protein-coding gene	gene with protein product		300197	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1"""	ATP6S1, ATP6IP1		8733135, 8281148	Standard	NM_001183		Approved	ORF, XAP-3, VATPS1, 16A, Ac45, XAP3, CF2	uc004flf.1	Q15904	OTTHUMG00000033291	ENST00000369762.2:c.1232A>T	X.37:g.153664056A>T	ENSP00000358777:p.Gln411Leu						p.Q411L	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN			10	1293	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		411					A6ZKI4|Q8NBT4|Q9H0C7	Missense_Mutation	SNP	ENST00000369762.2	37	c.1232A>T	CCDS35451.1	.	.	.	.	.	.	.	.	.	.	A	9.677	1.148283	0.21288	.	.	ENSG00000071553	ENST00000369762;ENST00000445849	.	.	.	5.56	2.24	0.28232	.	0.836599	0.11286	N	0.579785	T	0.26919	0.0659	L	0.28192	0.835	0.09310	N	1	B;B	0.26258	0.145;0.145	B;B	0.27500	0.05;0.08	T	0.26087	-1.0113	9	0.27082	T	0.32	-2.0468	4.9257	0.13892	0.688:0.1579:0.1541:0.0	.	371;411	B3KR70;Q15904	.;VAS1_HUMAN	L	411;235	.	ENSP00000358777:Q411L	Q	+	2	0	ATP6AP1	153317250	0.000000	0.05858	0.891000	0.34965	0.443000	0.32047	0.177000	0.16801	0.129000	0.18514	0.486000	0.48141	CAG		0.597	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081639.4	NM_001183		77	95	0	0	0	1	0	77	95				
XYLT2	64132	broad.mit.edu	37	17	48432928	48432928	+	Silent	SNP	C	C	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr17:48432928C>T	ENST00000017003.2	+	5	1123	c.1074C>T	c.(1072-1074)ggC>ggT	p.G358G	XYLT2_ENST00000507602.1_Silent_p.G358G	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	358					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					AGTCACATGGCCGGGACAACT	0.612																																						ENST00000017003.2																			0				endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.(1072-1074)ggC>ggT		xylosyltransferase II							58.0	56.0	57.0					17																	48432928		2203	4300	6503	SO:0001819	synonymous_variant	64132				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr17:48432928C>T	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"""protein xylosyltransferase 2"""	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.1074C>T	17.37:g.48432928C>T						XYLT2_ENST00000507602.1_Silent_p.G358G	p.G358G	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN			5	1123	+	Breast(11;7.18e-19)		358					Q6UY41|Q86V00	Silent	SNP	ENST00000017003.2	37	c.1074C>T	CCDS11563.1																																																																																				0.612	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	NM_022167		4	94	0	0	0	1	0	4	94				
KMT2C	58508	broad.mit.edu	37	7	151848014	151848014	+	Missense_Mutation	SNP	T	T	C			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr7:151848014T>C	ENST00000262189.6	-	51	12963	c.12745A>G	c.(12745-12747)Act>Gct	p.T4249A	KMT2C_ENST00000355193.2_Missense_Mutation_p.T4306A|KMT2C_ENST00000485241.1_5'Flank	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4249					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GCTTGTGCAGTTGATGAATAA	0.398																																						ENST00000355193.2																			0											c.(12916-12918)Act>Gct		lysine (K)-specific methyltransferase 2C							126.0	108.0	114.0					7																	151848014		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151848014T>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.12745A>G	7.37:g.151848014T>C	ENSP00000262189:p.Thr4249Ala					KMT2C_ENST00000262189.6_Missense_Mutation_p.T4249A	p.T4306A							52	13134	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.12916A>G	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.80|14.80	2.642694|2.642694	0.47153|0.47153	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000360104|ENST00000262189;ENST00000355193;ENST00000424877	.|D;D;D	.|0.87966	.|-1.66;-1.66;-2.32	5.3|5.3	1.38|1.38	0.22167|0.22167	.|.	.|0.337440	.|0.20861	.|N	.|0.084341	T|T	0.71978|0.71978	0.3404|0.3404	N|N	0.21282|0.21282	0.65|0.65	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.06786	.|0.001;0.0;0.0	.|B;B;B	.|0.06405	.|0.001;0.001;0.002	T|T	0.53408|0.53408	-0.8443|-0.8443	5|10	.|0.16420	.|T	.|0.52	.|.	3.4957|3.4957	0.07654|0.07654	0.2695:0.2993:0.0:0.4312|0.2695:0.2993:0.0:0.4312	.|.	.|4249;3367;4306	.|Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	.|MLL3_HUMAN;.;.	S|A	1809|4249;4306;866	.|ENSP00000262189:T4249A;ENSP00000347325:T4306A;ENSP00000410411:T866A	.|ENSP00000262189:T4249A	N|T	-|-	2|1	0|0	MLL3|MLL3	151478947|151478947	0.257000|0.257000	0.24022|0.24022	0.916000|0.916000	0.36221|0.36221	0.915000|0.915000	0.54546|0.54546	-0.216000|-0.216000	0.09266|0.09266	-0.004000|-0.004000	0.14419|0.14419	0.455000|0.455000	0.32223|0.32223	AAC|ACT		0.398	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			33	30	0	0	0	1	0	33	30				
DNAJA1	3301	broad.mit.edu	37	9	33037066	33037066	+	Missense_Mutation	SNP	A	A	G	rs144405670		TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr9:33037066A>G	ENST00000330899.4	+	8	1111	c.928A>G	c.(928-930)Att>Gtt	p.I310V	DNAJA1_ENST00000495015.1_3'UTR|DNAJA1_ENST00000544625.1_Missense_Mutation_p.I153V	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	310					androgen receptor signaling pathway (GO:0030521)|DNA damage response, detection of DNA damage (GO:0042769)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of apoptotic process (GO:0043065)|protein folding (GO:0006457)|protein localization to mitochondrion (GO:0070585)|regulation of protein transport (GO:0051223)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasmic side of endoplasmic reticulum membrane (GO:0098554)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|G-protein coupled receptor binding (GO:0001664)|Hsp70 protein binding (GO:0030544)|low-density lipoprotein particle receptor binding (GO:0050750)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		AGGCATGCCAATTTATCGTAG	0.348																																						ENST00000330899.4																			0				large_intestine(2)|ovary(1)|skin(3)	6						c.(928-930)Att>Gtt		DnaJ (Hsp40) homolog, subfamily A, member 1		A	VAL/ILE	0,4406		0,0,2203	150.0	130.0	137.0		928	5.1	1.0	9	dbSNP_134	137	2,8598	2.2+/-6.3	0,2,4298	no	missense	DNAJA1	NM_001539.2	29	0,2,6501	GG,GA,AA		0.0233,0.0,0.0154	benign	310/398	33037066	2,13004	2203	4300	6503	SO:0001583	missense	3301				protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding	g.chr9:33037066A>G	L08069	CCDS6533.1	9p13.3	2011-09-02			ENSG00000086061	ENSG00000086061		"""Heat shock proteins / DNAJ (HSP40)"""	5229	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 7"""	602837		HSJ2		8334160, 11147971	Standard	NM_001539		Approved	HSPF4, hdj-2, dj-2, NEDD7	uc003zsd.1	P31689	OTTHUMG00000019760	ENST00000330899.4:c.928A>G	9.37:g.33037066A>G	ENSP00000369127:p.Ile310Val					DNAJA1_ENST00000544625.1_Missense_Mutation_p.I153V|DNAJA1_ENST00000495015.1_3'UTR	p.I310V	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)	8	1111	+			310					Q5T7Q0|Q86TL9	Missense_Mutation	SNP	ENST00000330899.4	37	c.928A>G	CCDS6533.1	.	.	.	.	.	.	.	.	.	.	A	11.99	1.803418	0.31869	0.0	2.33E-4	ENSG00000086061	ENST00000330899;ENST00000539152;ENST00000544625	T;T	0.44482	0.92;0.92	5.11	5.11	0.69529	Chaperone DnaJ, C-terminal (1);HSP40/DnaJ peptide-binding (1);	0.093462	0.64402	D	0.000001	T	0.32102	0.0818	L	0.37897	1.145	0.58432	D	0.999993	B;B	0.11235	0.004;0.001	B;B	0.15484	0.013;0.008	T	0.10428	-1.0630	10	0.15066	T	0.55	-17.4274	13.1513	0.59490	1.0:0.0:0.0:0.0	.	310;310	Q86TL9;P31689	.;DNJA1_HUMAN	V	310;153;153	ENSP00000369127:I310V;ENSP00000439010:I153V	ENSP00000369127:I310V	I	+	1	0	DNAJA1	33027066	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.798000	0.47884	2.064000	0.61679	0.482000	0.46254	ATT		0.348	DNAJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052031.1			28	4	0	0	0	1	0	28	4				
SH3TC1	54436	broad.mit.edu	37	4	8228808	8228808	+	Missense_Mutation	SNP	C	C	T	rs371734585		TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr4:8228808C>T	ENST00000245105.3	+	12	1454	c.1387C>T	c.(1387-1389)Cca>Tca	p.P463S	SH3TC1_ENST00000539824.1_Missense_Mutation_p.P387S|SH3TC1_ENST00000514274.1_3'UTR	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	463										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CCCCCAGGAGCCAGCGTCCTG	0.617																																					NSCLC(145;2298 2623 35616 37297)	ENST00000539824.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(1159-1161)Cca>Tca		SH3 domain and tetratricopeptide repeats 1							35.0	39.0	38.0					4																	8228808		2203	4300	6503	SO:0001583	missense	54436						binding	g.chr4:8228808C>T	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.1387C>T	4.37:g.8228808C>T	ENSP00000245105:p.Pro463Ser					SH3TC1_ENST00000514274.1_3'UTR|SH3TC1_ENST00000245105.3_Missense_Mutation_p.P463S	p.P387S			Q8TE82	S3TC1_HUMAN			12	1533	+			463					Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	c.1159C>T	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	C	7.801	0.713586	0.15306	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.75154	-0.91;-0.9	4.62	2.59	0.31030	.	1.256680	0.05279	N	0.518998	T	0.65260	0.2674	L	0.44542	1.39	0.09310	N	1	B	0.32425	0.371	B	0.35240	0.198	T	0.55042	-0.8202	10	0.19590	T	0.45	-2.6108	4.2377	0.10634	0.1608:0.5956:0.156:0.0876	.	463	Q8TE82	S3TC1_HUMAN	S	201;463;387;292	ENSP00000245105:P463S;ENSP00000441045:P387S	ENSP00000245105:P463S	P	+	1	0	SH3TC1	8279708	0.000000	0.05858	0.495000	0.27527	0.459000	0.32528	-0.158000	0.10070	2.136000	0.66102	0.556000	0.70494	CCA		0.617	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		15	27	0	0	0	1	0	15	27				
OR1G1	8390	broad.mit.edu	37	17	3030555	3030555	+	Missense_Mutation	SNP	A	A	C			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr17:3030555A>C	ENST00000328890.2	-	1	320	c.291T>G	c.(289-291)tgT>tgG	p.C97W		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	97					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						ACTGTAGTAGACACCCTGAGT	0.502																																					Colon(127;1481 1654 8243 19426 50557)	ENST00000328890.2																			0				kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						c.(289-291)tgT>tgG		olfactory receptor, family 1, subfamily G, member 1							80.0	73.0	76.0					17																	3030555		2203	4300	6503	SO:0001583	missense	8390				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3030555A>C	U04689	CCDS11020.1	17p13.3	2012-08-09			ENSG00000183024	ENSG00000183024		"""GPCR / Class A : Olfactory receptors"""	8204	protein-coding gene	gene with protein product				OR1G2		8004088, 9500546	Standard	NM_003555		Approved	OR17-209	uc002fvc.1	P47890	OTTHUMG00000090618	ENST00000328890.2:c.291T>G	17.37:g.3030555A>C	ENSP00000331545:p.Cys97Trp						p.C97W	NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN			1	320	-			97					Q4VBM1|Q6IFL9|Q9UM76	Missense_Mutation	SNP	ENST00000328890.2	37	c.291T>G	CCDS11020.1	.	.	.	.	.	.	.	.	.	.	A	14.18	2.457594	0.43634	.	.	ENSG00000183024	ENST00000328890	T	0.00551	6.65	4.4	-0.571	0.11749	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.04318	0.0119	H	0.99590	4.645	0.39383	D	0.966285	D	0.89917	1.0	D	0.91635	0.999	T	0.08848	-1.0702	9	0.87932	D	0	.	9.1771	0.37118	0.5389:0.0:0.4611:0.0	.	97	P47890	OR1G1_HUMAN	W	97	ENSP00000331545:C97W	ENSP00000331545:C97W	C	-	3	2	OR1G1	2977305	0.001000	0.12720	0.219000	0.23793	0.934000	0.57294	-0.151000	0.10175	-0.020000	0.14032	0.432000	0.28606	TGT		0.502	OR1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207206.2			31	43	0	0	0	1	0	31	43				
PLEKHS1	79949	broad.mit.edu	37	10	115529577	115529577	+	Missense_Mutation	SNP	T	T	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr10:115529577T>A	ENST00000369310.3	+	6	1014	c.452T>A	c.(451-453)tTc>tAc	p.F151Y	PLEKHS1_ENST00000354462.3_5'Flank|PLEKHS1_ENST00000361048.1_Missense_Mutation_p.F157Y|PLEKHS1_ENST00000369309.1_5'Flank|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.F69Y	NM_182601.1	NP_872407.1	Q5SXH7	PKHS1_HUMAN	pleckstrin homology domain containing, family S member 1	151																	AGAACCCTCTTCTACTCCAGC	0.502																																						ENST00000361048.1																			0											c.(469-471)tTc>tAc		pleckstrin homology domain containing, family S member 1							125.0	119.0	121.0					10																	115529577		2203	4300	6503	SO:0001583	missense	79949							g.chr10:115529577T>A	AK027190	CCDS7583.1, CCDS53580.1, CCDS53581.1	10q26.11	2013-01-11	2012-05-31	2012-05-31	ENSG00000148735	ENSG00000148735		"""Pleckstrin homology (PH) domain containing"""	26285	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 81"""	C10orf81		12477932	Standard	NM_024889		Approved	FLJ23537, bA211N11.2	uc001lat.2	Q5SXH7	OTTHUMG00000019074	ENST00000369310.3:c.452T>A	10.37:g.115529577T>A	ENSP00000358316:p.Phe151Tyr					PLEKHS1_ENST00000369312.4_Missense_Mutation_p.F69Y|PLEKHS1_ENST00000369310.3_Missense_Mutation_p.F151Y	p.F157Y	NM_024889.4	NP_079165.3					7	797	+								A8KA02|B3KX00|B6EDE1|Q5SXH8|Q5SXI0|Q6ZQR5|Q8NE42|Q9H5D9	Missense_Mutation	SNP	ENST00000369310.3	37	c.470T>A	CCDS53580.1	.	.	.	.	.	.	.	.	.	.	T	14.24	2.476168	0.44044	.	.	ENSG00000148735	ENST00000361048;ENST00000369312;ENST00000369310	T;T;T	0.28895	1.59;1.59;1.59	5.93	5.02	0.67125	.	0.459548	0.23019	N	0.052872	T	0.26593	0.0650	L	0.29908	0.895	0.09310	N	1	D;P;P	0.53745	0.962;0.838;0.898	P;B;B	0.45681	0.49;0.253;0.354	T	0.10132	-1.0643	10	0.56958	D	0.05	-34.7055	10.321	0.43767	0.0:0.908:0.0:0.092	.	151;151;157	Q5SXH7-5;Q5SXH7-2;Q5SXH7-4	.;.;.	Y	157;69;151	ENSP00000354332:F157Y;ENSP00000358318:F69Y;ENSP00000358316:F151Y	ENSP00000354332:F157Y	F	+	2	0	C10orf81	115519567	0.347000	0.24853	0.010000	0.14722	0.001000	0.01503	2.143000	0.42187	1.484000	0.48361	-0.242000	0.12053	TTC		0.502	PLEKHS1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050432.1	NM_024889		47	24	0	0	0	1	0	47	24				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	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.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(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)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(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						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		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.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			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).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|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).|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).|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).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			35	61	0	0	0	1	0	35	61				
IL31RA	133396	broad.mit.edu	37	5	55212675	55212675	+	Silent	SNP	C	C	T	rs140132589	byFrequency	TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr5:55212675C>T	ENST00000447346.2	+	15	2087	c.2022C>T	c.(2020-2022)tgC>tgT	p.C674C	IL31RA_ENST00000354961.4_Intron|IL31RA_ENST00000490985.1_Silent_p.C532C|IL31RA_ENST00000396834.1_Intron|IL31RA_ENST00000359040.5_Intron	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	642					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				ATGTGACCTGCCCCTTCAGGC	0.483																																						ENST00000447346.2																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21						c.(2020-2022)tgC>tgT		interleukin 31 receptor A		C	,,,,	0,4406		0,0,2203	55.0	61.0	59.0		1965,,,1596,2022	-3.1	0.0	5	dbSNP_134	59	5,8595	4.3+/-15.6	0,5,4295	yes	coding-synonymous,intron,intron,coding-synonymous,coding-synonymous	IL31RA	NM_001242636.1,NM_001242637.1,NM_001242638.1,NM_001242639.1,NM_139017.5	,,,,	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	,,,,	655/746,,,532/623,674/765	55212675	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	133396				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	g.chr5:55212675C>T	AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.2022C>T	5.37:g.55212675C>T						IL31RA_ENST00000354961.4_Intron|IL31RA_ENST00000359040.5_Intron|IL31RA_ENST00000396834.1_Intron|IL31RA_ENST00000490985.1_Silent_p.C532C	p.C674C	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN			15	2087	+		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	642					A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Silent	SNP	ENST00000447346.2	37	c.2022C>T	CCDS3970.2																																																																																				0.483	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017		18	24	0	0	0	1	0	18	24				
FSIP2	401024	broad.mit.edu	37	2	186670584	186670584	+	Silent	SNP	A	A	G			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr2:186670584A>G	ENST00000424728.1	+	17	16551	c.16551A>G	c.(16549-16551)aaA>aaG	p.K5517K	FSIP2_ENST00000343098.5_Silent_p.K5606K			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5517										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TGACAAATAAAAAGGAAGTGG	0.348																																						ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(16816-16818)aaA>aaG		fibrous sheath interacting protein 2							73.0	73.0	73.0					2																	186670584		1836	4075	5911	SO:0001819	synonymous_variant	401024							g.chr2:186670584A>G	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.16551A>G	2.37:g.186670584A>G						FSIP2_ENST00000424728.1_Silent_p.K5517K	p.K5606K	NM_173651.2	NP_775922.2					17	16818	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Silent	SNP	ENST00000424728.1	37	c.16818A>G																																																																																					0.348	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		26	38	0	0	0	1	0	26	38				
ZXDA	7789	broad.mit.edu	37	X	57936020	57936020	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:57936020C>T	ENST00000358697.4	-	1	1047	c.835G>A	c.(835-837)Gcc>Acc	p.A279T		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	279	Required for interaction with ZXDC.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						TGCTTCTTGGCGAAGGTTTGC	0.697																																						ENST00000358697.4																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						c.(835-837)Gcc>Acc		zinc finger, X-linked, duplicated A							16.0	16.0	16.0					X																	57936020		2197	4298	6495	SO:0001583	missense	7789				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:57936020C>T	L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"""Zinc fingers, C2H2-type"""	13198	protein-coding gene	gene with protein product	"""zinc finger protein 896"""	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.835G>A	X.37:g.57936020C>T	ENSP00000351530:p.Ala279Thr						p.A279T	NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN			1	1047	-			279			Required for interaction with ZXDC.		Q9UJP7	Missense_Mutation	SNP	ENST00000358697.4	37	c.835G>A	CCDS14376.1	.	.	.	.	.	.	.	.	.	.	.	15.06	2.720834	0.48728	.	.	ENSG00000198205	ENST00000358697	T	0.36157	1.27	3.35	-0.714	0.11219	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.589008	0.17058	N	0.188677	T	0.20373	0.0490	N	0.04132	-0.27	0.23984	N	0.996268	D	0.62365	0.991	P	0.56163	0.793	T	0.10451	-1.0629	9	.	.	.	.	1.3471	0.02165	0.1711:0.4396:0.1653:0.224	.	279	P98168	ZXDA_HUMAN	T	279	ENSP00000351530:A279T	.	A	-	1	0	ZXDA	57952745	0.000000	0.05858	0.915000	0.36163	0.940000	0.58332	-1.239000	0.02916	-0.313000	0.08728	0.415000	0.27848	GCC		0.697	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056925.1	NM_007156		9	4	0	0	0	1	0	9	4				
TTN	7273	broad.mit.edu	37	2	179437479	179437479	+	Silent	SNP	C	C	G			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr2:179437479C>G	ENST00000591111.1	-	276	68681	c.68457G>C	c.(68455-68457)gtG>gtC	p.V22819V	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.V24460V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.V15587V|TTN_ENST00000342992.6_Silent_p.V21892V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.V15520V|TTN_ENST00000460472.2_Silent_p.V15395V|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22819	Ig-like 117.				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)			GGGCCCACTTCACCTCAGGTG	0.463																																						ENST00000589042.1																			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.(73378-73380)gtG>gtC		titin							85.0	86.0	86.0					2																	179437479		1911	4112	6023	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179437479C>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.68457G>C	2.37:g.179437479C>G						TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.V15395V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.V22819V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.V21892V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Silent_p.V15587V|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Silent_p.V15520V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA	p.V24460V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	73604	-			22819			Fibronectin type-III 78.		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	Silent	SNP	ENST00000591111.1	37	c.73380G>C																																																																																					0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	88	0	0	0	1	0	5	88				
ZXDA	7789	broad.mit.edu	37	X	57935760	57935760	+	Silent	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:57935760G>A	ENST00000358697.4	-	1	1307	c.1095C>T	c.(1093-1095)tgC>tgT	p.C365C		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	365	Required for interaction with ZXDC.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						AGCTCTCCTCGCACACCTCAC	0.607																																						ENST00000358697.4																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						c.(1093-1095)tgC>tgT		zinc finger, X-linked, duplicated A							98.0	84.0	89.0					X																	57935760		2203	4300	6503	SO:0001819	synonymous_variant	7789				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:57935760G>A	L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"""Zinc fingers, C2H2-type"""	13198	protein-coding gene	gene with protein product	"""zinc finger protein 896"""	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.1095C>T	X.37:g.57935760G>A							p.C365C	NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN			1	1307	-			365			Required for interaction with ZXDC.		Q9UJP7	Silent	SNP	ENST00000358697.4	37	c.1095C>T	CCDS14376.1																																																																																				0.607	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056925.1	NM_007156		33	41	0	0	0	1	0	33	41				
GPR112	139378	broad.mit.edu	37	X	135426598	135426598	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:135426598C>T	ENST00000394143.1	+	6	1024	c.733C>T	c.(733-735)Caa>Taa	p.Q245*	GPR112_ENST00000412101.1_Nonsense_Mutation_p.Q40*|GPR112_ENST00000287534.4_Nonsense_Mutation_p.Q182*|GPR112_ENST00000370652.1_Nonsense_Mutation_p.Q245*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.Q40*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	245					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AACTGTTTCACAACAGATAGA	0.328																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(733-735)Caa>Taa		G protein-coupled receptor 112							108.0	80.0	90.0					X																	135426598		2203	4300	6503	SO:0001587	stop_gained	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135426598C>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.733C>T	X.37:g.135426598C>T	ENSP00000377699:p.Gln245*					GPR112_ENST00000370652.1_Nonsense_Mutation_p.Q245*|GPR112_ENST00000287534.4_Nonsense_Mutation_p.Q182*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.Q40*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.Q40*	p.Q245*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	1024	+	Acute lymphoblastic leukemia(192;0.000127)		245					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Nonsense_Mutation	SNP	ENST00000394143.1	37	c.733C>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	c	34	5.309000	0.95629	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	.	.	.	4.3	4.3	0.51218	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	11.8037	0.52141	0.0:1.0:0.0:0.0	.	.	.	.	X	245;245;40;182;40	.	ENSP00000287534:Q182X	Q	+	1	0	GPR112	135254264	0.732000	0.28121	0.955000	0.39395	0.094000	0.18550	1.834000	0.39171	2.070000	0.61991	0.509000	0.49947	CAA		0.328	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			25	48	0	0	0	1	0	25	48				
SUN3	256979	broad.mit.edu	37	7	48068665	48068665	+	De_novo_Start_OutOfFrame	SNP	C	C	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr7:48068665C>T	ENST00000297325.4	-	0	30				SUN3_ENST00000453192.2_5'Flank|SUN3_ENST00000412142.1_De_novo_Start_OutOfFrame|SUN3_ENST00000395572.2_De_novo_Start_OutOfFrame	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3							integral component of membrane (GO:0016021)|SUN-KASH complex (GO:0034993)				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCTTCCTCCACGGGTGTTTCT	0.398																																						ENST00000297325.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30								Sad1 and UNC84 domain containing 3																																						256979					integral to membrane		g.chr7:48068665C>T	AF429967	CCDS34636.1, CCDS64647.1	7p12.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164744	ENSG00000164744			22429	protein-coding gene	gene with protein product			"""Sad1 and UNC84 domain containing 1"""	SUNC1			Standard	NM_001284350		Approved	MGC33329	uc003tof.3	Q8TAQ9	OTTHUMG00000155646	ENST00000297325.4:c.-130G>A	7.37:g.48068665C>T						SUN3_ENST00000395572.2_De_novo_Start_OutOfFrame|SUN3_ENST00000412142.1_De_novo_Start_OutOfFrame		NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN			0	30	-								A4D2F3|B4DXK1|D3DVM3|E7EWC8|Q4F965|Q7Z4U8	Translation_Start_Site	SNP	ENST00000297325.4	37		CCDS34636.1																																																																																				0.398	SUN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340962.1	NM_152782		6	4	0	0	0	1	0	6	4				
MAP3K15	389840	broad.mit.edu	37	X	19378946	19378946	+	Missense_Mutation	SNP	C	C	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:19378946C>A	ENST00000338883.4	-	29	3862	c.3863G>T	c.(3862-3864)gGt>gTt	p.G1288V	PDHA1_ENST00000545074.1_3'UTR|PDHA1_ENST00000540249.1_3'UTR|PDHA1_ENST00000379806.5_3'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.G1120V|PDHA1_ENST00000422285.2_3'UTR|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.G723V	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1288							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GCAGAGGAGACCACCCCTGGG	0.473																																						ENST00000338883.4																			0				NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(3862-3864)gGt>gTt		mitogen-activated protein kinase kinase kinase 15							104.0	80.0	88.0					X																	19378946		2203	4300	6503	SO:0001583	missense	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19378946C>A	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.3863G>T	X.37:g.19378946C>A	ENSP00000345629:p.Gly1288Val					PDHA1_ENST00000422285.2_3'UTR|PDHA1_ENST00000379806.5_3'UTR|MAP3K15_ENST00000518578.1_5'UTR|PDHA1_ENST00000545074.1_3'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.G1120V|MAP3K15_ENST00000359173.3_Missense_Mutation_p.G723V|PDHA1_ENST00000540249.1_3'UTR	p.G1288V	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN			29	3862	-	Hepatocellular(33;0.183)		1288					A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37	c.3863G>T		.	.	.	.	.	.	.	.	.	.	C	21.6	4.178762	0.78564	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	D;D;D	0.90444	-2.67;-2.67;-2.67	5.62	2.83	0.33086	Sterile alpha motif/pointed domain (1);	0.173760	0.37012	U	0.002294	D	0.94670	0.8281	M	0.88450	2.955	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92338	0.5879	10	0.87932	D	0	.	5.7454	0.18118	0.1424:0.6483:0.1341:0.0752	.	763;1288	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	V	1288;723;1120	ENSP00000345629:G1288V;ENSP00000352093:G723V;ENSP00000428356:G1120V	ENSP00000345629:G1288V	G	-	2	0	MAP3K15	19288867	0.984000	0.35163	0.001000	0.08648	0.869000	0.49853	2.686000	0.46968	0.225000	0.20959	0.594000	0.82650	GGT		0.473	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		16	24	1	0	1.15088e-07	1	1.19572e-07	16	24				
SLC7A10	56301	broad.mit.edu	37	19	33699847	33699847	+	Missense_Mutation	SNP	A	A	G			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr19:33699847A>G	ENST00000253188.4	-	11	1668	c.1522T>C	c.(1522-1524)Tgc>Cgc	p.C508R	CTD-2540B15.13_ENST00000609744.1_RNA	NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	508					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|D-alanine transport (GO:0042941)|D-serine transport (GO:0042942)|ion transport (GO:0006811)|L-serine transport (GO:0015825)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					GAGGGTGGGCAGGGGCCATTC	0.547																																						ENST00000253188.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18						c.(1522-1524)Tgc>Cgc		solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10							32.0	35.0	34.0					19																	33699847		2202	4300	6502	SO:0001583	missense	56301				blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity	g.chr19:33699847A>G	AB037670	CCDS12431.1	19q13.11	2013-05-28	2011-07-12		ENSG00000130876	ENSG00000130876		"""Solute carriers"""	11058	protein-coding gene	gene with protein product		607959				10734121, 10863037	Standard	NM_019849		Approved	asc-1	uc002num.2	Q9NS82	OTTHUMG00000180344	ENST00000253188.4:c.1522T>C	19.37:g.33699847A>G	ENSP00000253188:p.Cys508Arg						p.C508R	NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN			11	1668	-	Esophageal squamous(110;0.137)		508					B2RE84	Missense_Mutation	SNP	ENST00000253188.4	37	c.1522T>C	CCDS12431.1	.	.	.	.	.	.	.	.	.	.	A	3.427	-0.116827	0.06838	.	.	ENSG00000130876	ENST00000253188	D	0.90324	-2.65	4.86	2.59	0.31030	.	1.185040	0.05996	N	0.646860	D	0.83681	0.5307	L	0.36672	1.1	0.43574	D	0.995902	B;B	0.21452	0.004;0.056	B;B	0.14578	0.009;0.011	T	0.70063	-0.4975	10	0.25106	T	0.35	.	2.2531	0.04048	0.5524:0.2195:0.0881:0.14	.	508;355	Q9NS82;Q9NWI3	AAA1_HUMAN;.	R	508	ENSP00000253188:C508R	ENSP00000253188:C508R	C	-	1	0	SLC7A10	38391687	0.984000	0.35163	0.442000	0.26870	0.045000	0.14185	3.300000	0.51834	0.167000	0.19631	-0.376000	0.06991	TGC		0.547	SLC7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450846.2	NM_019849		4	14	0	0	0	1	0	4	14				
KRT8	3856	broad.mit.edu	37	12	53292607	53292607	+	Missense_Mutation	SNP	A	A	G			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr12:53292607A>G	ENST00000552551.1	-	7	1490	c.1058T>C	c.(1057-1059)tTg>tCg	p.L353S	KRT8_ENST00000552150.1_Missense_Mutation_p.L381S|KRT8_ENST00000546897.1_Missense_Mutation_p.L353S|KRT8_ENST00000293308.6_Missense_Mutation_p.L353S			P05787	K2C8_HUMAN	keratin 8	353	Coil 2.|Necessary for interaction with PNN.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatocyte apoptotic process (GO:0097284)|response to hydrostatic pressure (GO:0051599)|response to other organism (GO:0051707)|sarcomere organization (GO:0045214)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Tenecteplase(DB00031)	CAGCTCGGACAACTTGGCGTT	0.637																																						ENST00000552551.1																			0				endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						c.(1057-1059)tTg>tCg		keratin 8	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						52.0	52.0	52.0					12																	53292607		2203	4300	6503	SO:0001583	missense	3856				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity	g.chr12:53292607A>G	BC000654	CCDS8841.1, CCDS58234.1	12q13.13	2013-01-16			ENSG00000170421	ENSG00000170421		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6446	protein-coding gene	gene with protein product		148060				2434381, 1705144, 16831889	Standard	NM_002273		Approved	CARD2, K8, CK8, CYK8, K2C8, KO	uc009zmk.1	P05787	OTTHUMG00000169881	ENST00000552551.1:c.1058T>C	12.37:g.53292607A>G	ENSP00000447566:p.Leu353Ser					KRT8_ENST00000546897.1_Missense_Mutation_p.L353S|KRT8_ENST00000293308.6_Missense_Mutation_p.L353S|KRT8_ENST00000552150.1_Missense_Mutation_p.L381S	p.L353S			P05787	K2C8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.108)	7	1490	-			353			Coil 2.|Necessary for interaction with PNN.|Rod.		A8K4H3|B0AZN5|F8VXB4|Q14099|Q14716|Q14717|Q53GJ0|Q6DHW5|Q6GMY0|Q6P4C7|Q96J60	Missense_Mutation	SNP	ENST00000552551.1	37	c.1058T>C	CCDS8841.1	.	.	.	.	.	.	.	.	.	.	A	10.33	1.319507	0.23994	.	.	ENSG00000170421	ENST00000552551;ENST00000293308;ENST00000546897;ENST00000552150	D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71	3.85	2.68	0.31781	Filament (1);	0.243412	0.33938	N	0.004403	D	0.94225	0.8146	H	0.99058	4.415	0.38723	D	0.953499	B;B	0.30361	0.234;0.277	B;B	0.35353	0.197;0.201	D	0.92856	0.6301	10	0.87932	D	0	.	9.0391	0.36307	0.8347:0.0:0.0:0.1653	.	381;353	F8VXB4;P05787	.;K2C8_HUMAN	S	353;353;353;381	ENSP00000447566:L353S;ENSP00000293308:L353S;ENSP00000447402:L353S;ENSP00000449404:L381S	ENSP00000293308:L353S	L	-	2	0	KRT8	51578874	1.000000	0.71417	0.840000	0.33206	0.001000	0.01503	6.058000	0.71126	0.599000	0.29845	-0.444000	0.05651	TTG		0.637	KRT8-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406385.1	NM_002273		4	76	0	0	0	1	0	4	76				
TTN	7273	broad.mit.edu	37	2	179400060	179400060	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr2:179400060C>T	ENST00000591111.1	-	308	96583	c.96359G>A	c.(96358-96360)cGg>cAg	p.R32120Q	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R33761Q|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R24888Q|TTN_ENST00000342992.6_Missense_Mutation_p.R31193Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R24821Q|TTN_ENST00000460472.2_Missense_Mutation_p.R24696Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585358.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32120	Fibronectin type-III 132. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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.R31191L(1)|p.R24696L(1)|p.R31193L(1)|p.R24821L(1)|p.R24888L(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)			AGCTATTACCCGGAACTGGTA	0.418																																						ENST00000589042.1																			5	Substitution - Missense(5)	p.R31191L(1)|p.R24696L(1)|p.R31193L(1)|p.R24821L(1)|p.R24888L(1)	lung(5)	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.(101281-101283)cGg>cAg		titin							138.0	128.0	131.0					2																	179400060		1846	4106	5952	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179400060C>T	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.96359G>A	2.37:g.179400060C>T	ENSP00000465570:p.Arg32120Gln					TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R24696Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R32120Q|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R31193Q|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R24888Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R24821Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590040.1_RNA	p.R33761Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		358	101506	-			32120					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.101282G>A		.	.	.	.	.	.	.	.	.	.	C	17.88	3.497958	0.64186	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	5.52	4.65	0.58169	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77532	0.4144	M	0.82323	2.585	0.51482	D	0.999928	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.81822	-0.0756	9	0.87932	D	0	.	14.8904	0.70604	0.0:0.9306:0.0:0.0694	.	24696;24821;24888;32120	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	31193;24696;24888;24821;24693	ENSP00000343764:R31193Q;ENSP00000434586:R24696Q;ENSP00000340554:R24888Q;ENSP00000352154:R24821Q	ENSP00000340554:R24888Q	R	-	2	0	TTN	179108306	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.060000	0.57477	1.472000	0.48140	-0.252000	0.11476	CGG		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	138	0	0	0	1	0	6	138				
TES	26136	broad.mit.edu	37	7	115891827	115891827	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr7:115891827G>A	ENST00000358204.4	+	5	931	c.716G>A	c.(715-717)tGc>tAc	p.C239Y	AC073130.3_ENST00000444244.1_RNA|TES_ENST00000537767.1_5'UTR|TES_ENST00000393481.2_Missense_Mutation_p.C230Y|AC002066.1_ENST00000446355.2_RNA	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	239	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			TGCTATTGCTGCAAACTGAGT	0.438																																						ENST00000358204.4																			0				endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(715-717)tGc>tAc		testis derived transcript (3 LIM domains)							156.0	157.0	157.0					7																	115891827		2203	4300	6503	SO:0001583	missense	26136				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding	g.chr7:115891827G>A	AJ250865	CCDS5763.1, CCDS5764.1	7q31.2	2004-04-20			ENSG00000135269	ENSG00000135269			14620	protein-coding gene	gene with protein product		606085				10950921	Standard	NM_015641		Approved	DKFZP586B2022, TESS-2, TESTIN	uc003vho.3	Q9UGI8	OTTHUMG00000023092	ENST00000358204.4:c.716G>A	7.37:g.115891827G>A	ENSP00000350937:p.Cys239Tyr					TES_ENST00000393481.2_Missense_Mutation_p.C230Y|AC002066.1_ENST00000446355.2_RNA|AC073130.3_ENST00000444244.1_RNA|TES_ENST00000537767.1_5'UTR	p.C239Y	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		5	931	+	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	239			LIM zinc-binding 1.		A4D0U6|Q9GZQ1|Q9HAJ9	Missense_Mutation	SNP	ENST00000358204.4	37	c.716G>A	CCDS5763.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.74|15.74	2.922770|2.922770	0.52653|0.52653	.|.	.|.	ENSG00000135269|ENSG00000135269	ENST00000393484|ENST00000358204;ENST00000257721;ENST00000393481	.|D;D	.|0.99319	.|-5.74;-5.74	4.15|4.15	4.15|4.15	0.48705|0.48705	.|Zinc finger, LIM-type (5);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99680|0.99680	0.9880|0.9880	H|H	0.98646|0.98646	4.29|4.29	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.97069|0.97069	0.9776|0.9776	5|10	.|0.87932	.|D	.|0	-17.3667|-17.3667	16.7694|16.7694	0.85533|0.85533	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|239	.|Q9UGI8	.|TES_HUMAN	T|Y	26|239;239;230	.|ENSP00000350937:C239Y;ENSP00000377121:C230Y	.|ENSP00000257721:C239Y	A|C	+|+	1|2	0|0	TES|TES	115679063|115679063	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.944000|0.944000	0.59088|0.59088	9.055000|9.055000	0.93873|0.93873	1.997000|1.997000	0.58415|0.58415	0.561000|0.561000	0.74099|0.74099	GCA|TGC		0.438	TES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059413.2	NM_015641		4	123	0	0	0	1	0	4	123				
GPR139	124274	broad.mit.edu	37	16	20043306	20043306	+	Silent	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr16:20043306G>A	ENST00000570682.1	-	2	1113	c.813C>T	c.(811-813)aaC>aaT	p.N271N		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	271					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GGGCTAGCATGTTGGCAATGT	0.552																																						ENST00000570682.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						c.(811-813)aaC>aaT		G protein-coupled receptor 139							84.0	86.0	85.0					16																	20043306		2203	4300	6503	SO:0001819	synonymous_variant	124274					integral to membrane|plasma membrane		g.chr16:20043306G>A	AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.813C>T	16.37:g.20043306G>A							p.N271N	NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN			2	1113	-			271					A8K5R9|Q86SP2|Q8TDU8	Silent	SNP	ENST00000570682.1	37	c.813C>T	CCDS32398.1																																																																																				0.552	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		29	44	0	0	0	1	0	29	44				
C4A	720	broad.mit.edu	37	6	31963505	31963505	+	Missense_Mutation	SNP	G	G	A	rs143990092		TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr6:31963505G>A	ENST00000428956.2	+	25	3248	c.3164G>A	c.(3163-3165)cGg>cAg	p.R1055Q	C4A_ENST00000498271.1_Missense_Mutation_p.R1055Q	NM_007293.2	NP_009224.2	P0C0L4	CO4A_HUMAN	complement component 4A (Rodgers blood group)	1055					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement component C1q binding (GO:0001849)|endopeptidase inhibitor activity (GO:0004866)									Intravenous Immunoglobulin(DB00028)	GGCTACATGCGGATCCAGCAG	0.607																																						ENST00000428956.2																			0											c.(3163-3165)cGg>cAg		complement component 4A (Rodgers blood group)		G	GLN/ARG	1,2989		0,1,1494	48.0	41.0	43.0		3164	3.1	1.0	6	dbSNP_134	43	0,5296		0,0,2648	no	missense	C4A	NM_007293.2	43	0,1,4142	AA,AG,GG		0.0,0.0334,0.0121	possibly-damaging	1055/1745	31963505	1,8285	1495	2648	4143	SO:0001583	missense	720							g.chr6:31963505G>A	L26261, M14823, X77491, AY224378	CCDS47404.1, CCDS59005.1	6p21.3	2014-09-17	2006-01-19		ENSG00000244731	ENSG00000244731		"""Blood group antigens"", ""Complement system"""	1323	protein-coding gene	gene with protein product		120810	"""complement component 4A"""				Standard	NM_001252204		Approved	CPAMD2, C4S, CO4, C4, C4A3, C4A2, C4A4, C4A6, C4B, RG		P0C0L4	OTTHUMG00000031186	ENST00000428956.2:c.3164G>A	6.37:g.31963505G>A	ENSP00000396688:p.Arg1055Gln					C4A_ENST00000498271.1_Missense_Mutation_p.R1055Q	p.R1055Q	NM_007293.2	NP_009224.2					25	3248	+								A6H8M8|A6NHJ5|A7E2V2|B0QZR6|B0V2C8|B2RUT6|B7ZVZ6|P01028|P78445|Q13160|Q13906|Q14033|Q14835|Q4LE82|Q5JNX2|Q5JQM8|Q6P4R1|Q6U2E5|Q6U2E8|Q6U2F0|Q6U2F3|Q6U2F4|Q6U2F6|Q6U2F8|Q6U2G0|Q96EG2|Q96SA8|Q9NPK5|Q9UIP5	Missense_Mutation	SNP	ENST00000428956.2	37	c.3164G>A	CCDS47404.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.267565	0.59540	3.34E-4	0.0	ENSG00000244731	ENST00000428956;ENST00000498271	T;T	0.37752	1.18;1.18	3.11	3.11	0.35812	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.073130	0.53938	D	0.000057	T	0.32346	0.0826	L	0.43152	1.355	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.65010	0.931;0.921	T	0.03231	-1.1058	10	0.27082	T	0.32	.	9.9791	0.41802	0.0:0.0:1.0:0.0	.	1055;1055	A6H8M8;P0C0L4	.;CO4A_HUMAN	Q	1055	ENSP00000396688:R1055Q;ENSP00000420212:R1055Q	ENSP00000396688:R1055Q	R	+	2	0	C4A	32071484	0.994000	0.37717	0.992000	0.48379	0.557000	0.35523	2.575000	0.46025	1.780000	0.52325	0.413000	0.27773	CGG		0.607	C4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076364.3	NM_007293		5	66	0	0	0	1	0	5	66				
SNHG14	104472715	broad.mit.edu	37	15	25467402	25467402	+	RNA	SNP	C	C	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr15:25467402C>A	ENST00000424208.1	+	0	3136				SNORD115-30_ENST00000364117.1_RNA|SNORD115-27_ENST00000364430.1_RNA|SNORD115-29_ENST00000362834.1_RNA|SNHG14_ENST00000453082.2_RNA|SNORD115-28_ENST00000363931.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		AAGCTCAGACCCTTCCTGGTT	0.607																																						ENST00000424208.1																			0																																																			0							g.chr15:25467402C>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25467402C>A						SNHG14_ENST00000453082.2_RNA		NR_003305.1						0	3136	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.607	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			26	32	1	0	1.64293e-13	1	1.75246e-13	26	32				
AGBL1	123624	broad.mit.edu	37	15	86940603	86940603	+	Missense_Mutation	SNP	G	G	A	rs377248005	byFrequency	TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr15:86940603G>A	ENST00000441037.2	+	17	2338	c.2243G>A	c.(2242-2244)cGt>cAt	p.R748H	AGBL1_ENST00000421325.2_Missense_Mutation_p.R748H|AGBL1_ENST00000389298.3_Missense_Mutation_p.R479H	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	748					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GCAGGACATCGTCCATATCAG	0.403													G|||	3	0.000599042	0.0	0.0	5008	,	,		18414	0.002		0.0	False		,,,				2504	0.001					ENST00000441037.2																			0				NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						c.(2242-2244)cGt>cAt		ATP/GTP binding protein-like 1		G	HIS/ARG	0,3834		0,0,1917	98.0	92.0	94.0		2243	5.5	1.0	15		94	1,8253		0,1,4126	no	missense	AGBL1	NM_152336.2	29	0,1,6043	AA,AG,GG		0.0121,0.0,0.0083	probably-damaging	748/1067	86940603	1,12087	1917	4127	6044	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86940603G>A	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2243G>A	15.37:g.86940603G>A	ENSP00000413001:p.Arg748His					AGBL1_ENST00000421325.2_Missense_Mutation_p.R748H|AGBL1_ENST00000389298.3_Missense_Mutation_p.R479H	p.R748H	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN			17	2338	+			748					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.2243G>A	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778249	0.90195	0.0	1.21E-4	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.12255	2.7;2.7	5.49	5.49	0.81192	Peptidase M14, carboxypeptidase A (1);	0.000000	0.64402	D	0.000001	T	0.44850	0.1313	M	0.84773	2.715	0.54753	D	0.999986	D	0.89917	1.0	D	0.97110	1.0	T	0.47005	-0.9150	10	0.87932	D	0	-15.0685	18.7311	0.91735	0.0:0.0:1.0:0.0	.	748	Q96MI9	CBPC4_HUMAN	H	777;748;479	ENSP00000397173:R748H;ENSP00000373949:R479H	ENSP00000373949:R479H	R	+	2	0	AGBL1	84741607	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	9.689000	0.98673	2.733000	0.93635	0.655000	0.94253	CGT		0.403	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		3	23	0	0	0	1	0	3	23				
CGB8	94115	broad.mit.edu	37	19	49552213	49552213	+	De_novo_Start_OutOfFrame	SNP	C	C	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr19:49552213C>T	ENST00000448456.3	-	0	150				CGB1_ENST00000391869.3_5'Flank|CGB8_ENST00000355414.2_De_novo_Start_OutOfFrame	NM_033183.2	NP_149439.1	P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide 8						apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|peptide hormone processing (GO:0016486)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			pancreas(1)	1		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GCGGAGACCACGGTGAAGTGA	0.642																																						ENST00000355414.2																			0				pancreas(1)	1								chorionic gonadotropin, beta polypeptide 8	Choriogonadotropin alfa(DB00097)																																					94115				apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr19:49552213C>T	BG435249	CCDS12753.1	19q13.32	2011-05-26							16453	protein-coding gene	gene with protein product		608827				6194155	Standard	NM_033183		Approved		uc002pmb.4	P01233		ENST00000448456.3:c.-217G>A	19.37:g.49552213C>T						CGB8_ENST00000448456.3_De_novo_Start_OutOfFrame				P01233	CGHB_HUMAN		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	0	187	-		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)						A1A5E0|B9ZVP5|Q13991|Q14000|Q3KPI3|Q3SY41|Q8WTT5|Q8WXL1|Q8WXL2|Q8WXL3|Q8WXL4	Translation_Start_Site	SNP	ENST00000448456.3	37		CCDS12753.1																																																																																				0.642	CGB8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452168.1	NM_033183		4	0	0	0	0	1	0	4	0				
LILRA2	11027	broad.mit.edu	37	19	55086932	55086932	+	Missense_Mutation	SNP	C	C	T	rs532565720	byFrequency	TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr19:55086932C>T	ENST00000251377.3	+	6	998	c.865C>T	c.(865-867)Cac>Tac	p.H289Y	LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.H289Y|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.H289Y|LILRA2_ENST00000391737.1_Missense_Mutation_p.H277Y			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	289	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.H289Y(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GAGCCCCTCCCACGGGGGCCA	0.647													c|||	6	0.00119808	0.0	0.0014	5008	,	,		16291	0.0		0.0	False		,,,				2504	0.0051					ENST00000251377.3																			1	Substitution - Missense(1)	p.H289Y(1)	kidney(1)	breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(865-867)Cac>Tac		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							49.0	51.0	50.0					19																	55086932		2203	4299	6502	SO:0001583	missense	0							g.chr19:55086932C>T	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.865C>T	19.37:g.55086932C>T	ENSP00000251377:p.His289Tyr					LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.H277Y|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.H289Y|LILRA2_ENST00000391738.3_Missense_Mutation_p.H289Y	p.H289Y						GBM - Glioblastoma multiforme(193;0.0963)	6	998	+								O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.865C>T	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	C	8.190	0.795735	0.16327	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.00824	5.65;5.65;5.65;5.65;5.65	2.8	2.8	0.32819	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.843870	0.10052	N	0.722156	T	0.02767	0.0083	M	0.81179	2.53	0.25235	N	0.989797	B;B;B;B	0.17038	0.018;0.02;0.009;0.001	B;B;B;B	0.38458	0.274;0.077;0.077;0.015	T	0.36648	-0.9739	10	0.28530	T	0.3	.	9.2391	0.37484	0.0:1.0:0.0:0.0	.	289;277;289;289	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	Y	289;289;289;289;277	ENSP00000388131:H289Y;ENSP00000251377:H289Y;ENSP00000375618:H289Y;ENSP00000251376:H289Y;ENSP00000375617:H277Y	ENSP00000251376:H289Y	H	+	1	0	LILRA2	59778744	0.000000	0.05858	0.006000	0.13384	0.119000	0.20118	0.417000	0.21214	1.570000	0.49709	0.400000	0.26472	CAC		0.647	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			3	49	0	0	0	1	0	3	49				
NLRP8	126205	broad.mit.edu	37	19	56466710	56466710	+	Missense_Mutation	SNP	G	G	A	rs150630809		TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr19:56466710G>A	ENST00000291971.3	+	3	1357	c.1286G>A	c.(1285-1287)cGg>cAg	p.R429Q	NLRP8_ENST00000590542.1_Missense_Mutation_p.R429Q	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	429	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GTGTTCGTCCGGTATATTTCT	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		19803	0.0		0.001	False		,,,				2504	0.0					ENST00000291971.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(1285-1287)cGg>cAg		NLR family, pyrin domain containing 8		G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	87.0	89.0	89.0		1286	-3.6	0.0	19	dbSNP_134	89	9,8591	7.1+/-27.0	0,9,4291	yes	missense	NLRP8	NM_176811.2	43	0,11,6492	AA,AG,GG		0.1047,0.0454,0.0846	benign	429/1049	56466710	11,12995	2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56466710G>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1286G>A	19.37:g.56466710G>A	ENSP00000291971:p.Arg429Gln					NLRP8_ENST00000590542.1_Missense_Mutation_p.R429Q	p.R429Q	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	1357	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	429			NACHT.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.1286G>A	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	3.795	-0.042810	0.07452	4.54E-4	0.001047	ENSG00000179709	ENST00000291971	D	0.83755	-1.76	1.78	-3.56	0.04626	.	.	.	.	.	T	0.55625	0.1932	N	0.11000	0.08	0.09310	N	1	B;P	0.35959	0.087;0.53	B;B	0.20767	0.014;0.031	T	0.47799	-0.9089	9	0.29301	T	0.29	.	4.1107	0.10057	0.2487:0.0:0.5414:0.21	.	429;429	Q86W28-2;Q86W28	.;NALP8_HUMAN	Q	429	ENSP00000291971:R429Q	ENSP00000291971:R429Q	R	+	2	0	NLRP8	61158522	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.163000	0.09997	-1.352000	0.02194	-0.492000	0.04666	CGG		0.493	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		38	12	0	0	0	1	0	38	12				
RBX1	9978	broad.mit.edu	37	22	41347409	41347409	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr22:41347409G>A	ENST00000216225.8	+	1	47	c.7G>A	c.(7-9)Gca>Aca	p.A3T	XPNPEP3_ENST00000544094.1_Intron	NM_014248.3	NP_055063.1	P62877	RBX1_HUMAN	ring-box 1, E3 ubiquitin protein ligase	3					cellular response to hypoxia (GO:0071456)|DNA repair (GO:0006281)|Notch signaling pathway (GO:0007219)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein neddylation (GO:0045116)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|Cul5-RING ubiquitin ligase complex (GO:0031466)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SCF ubiquitin ligase complex (GO:0019005)|VCB complex (GO:0030891)	NEDD8 ligase activity (GO:0019788)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(3)|skin(1)	5						CAAAATGGCGGCAGCGATGGA	0.662																																						ENST00000216225.8																			0				large_intestine(1)|lung(3)|skin(1)	5						c.(7-9)Gca>Aca		ring-box 1, E3 ubiquitin protein ligase							36.0	35.0	35.0					22																	41347409		2200	4294	6494	SO:0001583	missense	9978				DNA repair|interspecies interaction between organisms|protein neddylation|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	Cul3-RING ubiquitin ligase complex|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytosol|nucleus|SCF ubiquitin ligase complex	NEDD8 ligase activity|protein binding|zinc ion binding	g.chr22:41347409G>A	AF140598	CCDS14009.1	22q13.2	2010-09-17	2010-09-17		ENSG00000100387	ENSG00000100387		"""RING-type (C3HC4) zinc fingers"""	9928	protein-coding gene	gene with protein product	"""regulator of cullins 1"""	603814	"""ring-box 1"""			10213691, 10230407	Standard	NM_014248		Approved	ROC1, RNF75, BA554C12.1	uc003azk.3	P62877	OTTHUMG00000151298	ENST00000216225.8:c.7G>A	22.37:g.41347409G>A	ENSP00000216225:p.Ala3Thr					XPNPEP3_ENST00000544094.1_Intron	p.A3T	NM_014248.3	NP_055063.1	P62877	RBX1_HUMAN			1	47	+			3					B2RDY1|Q8N6Z8|Q9D1S2|Q9WUK9|Q9Y254	Missense_Mutation	SNP	ENST00000216225.8	37	c.7G>A	CCDS14009.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249564	0.80024	.	.	ENSG00000100387	ENST00000216225	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.69296	0.3095	M	0.85542	2.76	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.66468	-0.5916	9	0.12430	T	0.62	.	17.9379	0.89018	0.0:0.0:1.0:0.0	.	3	P62877	RBX1_HUMAN	T	3	.	ENSP00000216225:A3T	A	+	1	0	RBX1	39677355	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.294000	0.89934	2.842000	0.97951	0.655000	0.94253	GCA		0.662	RBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322149.1	NM_014248		6	20	0	0	0	1	0	6	20				
MYO3A	53904	broad.mit.edu	37	10	26463168	26463168	+	Silent	SNP	T	T	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr10:26463168T>A	ENST00000265944.5	+	30	4141	c.3975T>A	c.(3973-3975)cgT>cgA	p.R1325R	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1325					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GCAGAGGCCGTCTGAGGCATG	0.483																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(3973-3975)cgT>cgA		myosin IIIA							125.0	132.0	129.0					10																	26463168		2203	4300	6503	SO:0001819	synonymous_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26463168T>A	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3975T>A	10.37:g.26463168T>A						MYO3A_ENST00000543632.1_Intron	p.R1325R	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			30	4141	+			1325					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	c.3975T>A	CCDS7148.1																																																																																				0.483	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		6	93	0	0	0	1	0	6	93				
NADSYN1	55191	broad.mit.edu	37	11	71208529	71208529	+	Splice_Site	SNP	G	G	C			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr11:71208529G>C	ENST00000319023.2	+	19	1953	c.1765G>C	c.(1765-1767)Gaa>Caa	p.E589Q	NADSYN1_ENST00000530055.1_Splice_Site_p.E218Q|NADSYN1_ENST00000539574.1_Splice_Site_p.E329Q	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	589	Ligase. {ECO:0000250}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	TTGTGCACAGGAAGATATGGG	0.517																																					Ovarian(79;763 1781 6490 50276)	ENST00000319023.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.e19-1		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						113.0	108.0	110.0					11																	71208529		2200	4294	6494	SO:0001630	splice_region_variant	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71208529G>C	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.1765-1G>C	11.37:g.71208529G>C						NADSYN1_ENST00000530055.1_Splice_Site_p.E218_splice|NADSYN1_ENST00000539574.1_Splice_Site_p.E329_splice	p.E589_splice	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN			19	1953	+			589			Ligase (By similarity).		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Splice_Site	SNP	ENST00000319023.2	37	c.1764_splice	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	.	11.01	1.512348	0.27036	.	.	ENSG00000172890	ENST00000319023;ENST00000539574;ENST00000530055	T;T;T	0.45668	0.89;0.89;0.89	4.68	4.68	0.58851	NAD/GMP synthase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.232112	0.35677	N	0.003044	T	0.37705	0.1013	L	0.43152	1.355	0.48632	D	0.999689	B;B	0.19445	0.018;0.036	B;B	0.28553	0.026;0.091	T	0.15492	-1.0435	10	0.21014	T	0.42	-11.0508	15.0852	0.72145	0.0:0.0:1.0:0.0	.	329;589	B3KUU4;Q6IA69	.;NADE_HUMAN	Q	589;329;218	ENSP00000326424:E589Q;ENSP00000443718:E329Q;ENSP00000431820:E218Q	ENSP00000326424:E589Q	E	+	1	0	NADSYN1	70886177	1.000000	0.71417	0.988000	0.46212	0.438000	0.31896	4.047000	0.57383	2.164000	0.68074	0.491000	0.48974	GAA		0.517	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161	Missense_Mutation	3	41	0	0	0	1	0	3	41				
SLC17A2	10246	broad.mit.edu	37	6	25921320	25921320	+	Splice_Site	SNP	C	C	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr6:25921320C>A	ENST00000265425.3	-	4	496	c.476G>T	c.(475-477)gGa>gTa	p.G159V	SLC17A2_ENST00000360488.3_Splice_Site_p.G159V|SLC17A2_ENST00000377850.3_Splice_Site_p.G159V			O00624	NPT3_HUMAN	solute carrier family 17, member 2	159					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						CCATGCCATTCCCTGAAATGA	0.448																																						ENST00000377850.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						c.e5-1		solute carrier family 17, member 2							91.0	76.0	81.0					6																	25921320		2203	4300	6503	SO:0001630	splice_region_variant	10246				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25921320C>A	U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"""Solute carriers"""	10930	protein-coding gene	gene with protein product		611049	"""solute carrier family 17 (sodium phosphate), member 2"""			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.475-1G>T	6.37:g.25921320C>A						SLC17A2_ENST00000360488.3_Splice_Site_p.G159_splice|SLC17A2_ENST00000265425.3_Splice_Site_p.G159_splice	p.G159_splice			O00624	NPT3_HUMAN			5	1000	-			159					A6NK81|A6NLD6|Q5TB84|Q76P85	Splice_Site	SNP	ENST00000265425.3	37	c.474_splice		.	.	.	.	.	.	.	.	.	.	C	16.84	3.233728	0.58886	.	.	ENSG00000112337	ENST00000360488;ENST00000377850;ENST00000265425	T;T;T	0.67865	-0.29;-0.29;-0.29	4.85	4.85	0.62838	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.117629	0.38778	N	0.001569	T	0.62527	0.2435	L	0.55017	1.72	0.80722	D	1	P;P;P	0.49447	0.857;0.857;0.924	P;P;P	0.51266	0.498;0.498;0.664	T	0.64326	-0.6434	10	0.48119	T	0.1	.	13.6671	0.62403	0.0:1.0:0.0:0.0	.	159;159;159	O00624;A6NK81;O00624-2	NPT3_HUMAN;.;.	V	159	ENSP00000353677:G159V;ENSP00000367081:G159V;ENSP00000265425:G159V	ENSP00000265425:G159V	G	-	2	0	SLC17A2	26029299	0.996000	0.38824	0.998000	0.56505	0.995000	0.86356	3.718000	0.54919	2.692000	0.91855	0.557000	0.71058	GGA		0.448	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040075.1		Missense_Mutation	16	22	1	0	6.72482e-11	1	7.07876e-11	16	22				
FANCD2	2177	broad.mit.edu	37	3	10134979	10134979	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr3:10134979G>A	ENST00000419585.1	+	39	4021	c.3860G>A	c.(3859-3861)aGt>aAt	p.S1287N	FANCD2_ENST00000287647.3_Missense_Mutation_p.S1287N|FANCD2_ENST00000383806.1_3'UTR|FANCD2_ENST00000383807.1_Missense_Mutation_p.S1287N|FANCD2OS_ENST00000436517.1_Intron|FANCD2OS_ENST00000524279.1_Intron			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1287					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)	p.S1287I(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GTATTTGATAGTCATCCTGTT	0.478			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			1	Substitution - Missense(1)	p.S1287I(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(3859-3861)aGt>aAt	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							197.0	180.0	186.0					3																	10134979		2203	4300	6503	SO:0001583	missense	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10134979G>A	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.3860G>A	3.37:g.10134979G>A	ENSP00000398754:p.Ser1287Asn					FANCD2OS_ENST00000436517.1_Intron|FANCD2_ENST00000419585.1_Missense_Mutation_p.S1287N|FANCD2_ENST00000383806.1_3'UTR|FANCD2_ENST00000383807.1_Missense_Mutation_p.S1287N|FANCD2OS_ENST00000524279.1_Intron	p.S1287N	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	39	3953	+			1287					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.3860G>A	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043221	0.75732	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000419585	T;T;T	0.59224	0.28;0.28;0.28	5.61	5.61	0.85477	.	0.089102	0.85682	D	0.000000	T	0.76564	0.4005	M	0.78223	2.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.988	T	0.76266	-0.3022	10	0.44086	T	0.13	.	17.1896	0.86875	0.0:0.0:1.0:0.0	.	1287;1287	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	N	1287	ENSP00000287647:S1287N;ENSP00000373318:S1287N;ENSP00000398754:S1287N	ENSP00000287647:S1287N	S	+	2	0	FANCD2	10109979	1.000000	0.71417	0.940000	0.37924	0.901000	0.52897	3.781000	0.55394	2.659000	0.90383	0.650000	0.86243	AGT		0.478	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			37	61	0	0	0	1	0	37	61				
SETD9	133383	broad.mit.edu	37	5	56207034	56207034	+	Missense_Mutation	SNP	T	T	G			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr5:56207034T>G	ENST00000285947.2	+	2	523	c.137T>G	c.(136-138)gTt>gGt	p.V46G	SETD9_ENST00000541720.1_Missense_Mutation_p.V46G|AC008937.3_ENST00000453721.1_RNA|SETD9_ENST00000475908.1_Intron	NM_153706.3	NP_714917.2	Q8NE22	SETD9_HUMAN	SET domain containing 9	46							methyltransferase activity (GO:0008168)										AAAGACAAAGTTATCTCAGAT	0.368																																						ENST00000285947.2																			0											c.(136-138)gTt>gGt		SET domain containing 9							45.0	48.0	47.0					5																	56207034		2201	4300	6501	SO:0001583	missense	133383							g.chr5:56207034T>G	BC036528	CCDS3972.1	5q11.2	2012-02-23	2012-02-23	2012-02-23	ENSG00000155542	ENSG00000155542			28508	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 35"""	C5orf35		20930037	Standard	NM_153706		Approved	MGC33648	uc003jqx.3	Q8NE22	OTTHUMG00000059485	ENST00000285947.2:c.137T>G	5.37:g.56207034T>G	ENSP00000285947:p.Val46Gly					SETD9_ENST00000541720.1_Missense_Mutation_p.V46G|SETD9_ENST00000475908.1_Intron	p.V46G	NM_153706.3	NP_714917.2	Q8NE22	CE035_HUMAN			2	523	+			46					F5H713	Missense_Mutation	SNP	ENST00000285947.2	37	c.137T>G	CCDS3972.1	.	.	.	.	.	.	.	.	.	.	T	16.49	3.138652	0.56936	.	.	ENSG00000155542	ENST00000285947;ENST00000541720;ENST00000423328	T;T	0.35789	1.29;1.29	5.3	4.15	0.48705	.	0.516357	0.19966	N	0.102119	T	0.29783	0.0744	L	0.40543	1.245	0.43657	D	0.996075	P	0.35383	0.498	B	0.34779	0.189	T	0.19976	-1.0289	10	0.87932	D	0	-10.5452	10.515	0.44885	0.0:0.0755:0.0:0.9245	.	46	Q8NE22	CE035_HUMAN	G	46;46;20	ENSP00000285947:V46G;ENSP00000442886:V46G	ENSP00000285947:V46G	V	+	2	0	C5orf35	56242791	0.887000	0.30362	0.981000	0.43875	0.998000	0.95712	2.851000	0.48302	2.016000	0.59253	0.533000	0.62120	GTT		0.368	SETD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132304.2	NM_153706		26	30	0	0	0	1	0	26	30				
MALAT1	378938	broad.mit.edu	37	11	65268906	65268906	+	lincRNA	SNP	C	C	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr11:65268906C>A	ENST00000534336.1	+	0	3674					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		GGAGAAATGGCTGGTAGTTAC	0.403																																						ENST00000534336.1																			0																				22.0	22.0	22.0					11																	65268906		874	1988	2862			0							g.chr11:65268906C>A	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65268906C>A								NR_002819.2						0	3674	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.403	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		3	17	1	0	0.004672	1	0.004672	3	17				
PWWP2B	170394	broad.mit.edu	37	10	134218307	134218307	+	Silent	SNP	A	A	C			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr10:134218307A>C	ENST00000305233.5	+	2	362	c.303A>C	c.(301-303)ccA>ccC	p.P101P	PWWP2B_ENST00000368609.4_Silent_p.P101P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	101	Pro-rich.							p.P101P(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GCCCCGAGCCACCCCCGCCCC	0.756																																						ENST00000305233.5																			1	Substitution - coding silent(1)	p.P101P(1)	lung(1)	central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						c.(301-303)ccA>ccC		PWWP domain containing 2B																																				SO:0001819	synonymous_variant	170394							g.chr10:134218307A>C	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"""PWWP domain containing 2"""	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.303A>C	10.37:g.134218307A>C						PWWP2B_ENST00000368609.4_Silent_p.P101P	p.P101P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)	2	362	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	101			Pro-rich.		A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Silent	SNP	ENST00000305233.5	37	c.303A>C	CCDS7667.2																																																																																				0.756	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		5	4	0	0	0	1	0	5	4				
CLCN4	1183	broad.mit.edu	37	X	10176604	10176604	+	Missense_Mutation	SNP	G	G	A	rs369733340		TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:10176604G>A	ENST00000380833.4	+	9	1754	c.1363G>A	c.(1363-1365)Gtt>Att	p.V455I	CLCN4_ENST00000421085.2_Missense_Mutation_p.V361I|CLCN4_ENST00000380829.1_Missense_Mutation_p.V424I	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	455					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.V455F(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CAAAATCGTCGTTACCATATT	0.527													g|||	1	0.000264901	0.0	0.0	3775	,	,		14124	0.001		0.0	False		,,,				2504	0.0				Melanoma(74;1050 1296 1576 30544 38374)	ENST00000380833.4																			1	Substitution - Missense(1)	p.V455F(1)	urinary_tract(1)	breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1363-1365)Gtt>Att		chloride channel, voltage-sensitive 4		G	ILE/VAL	0,3833		0,0,1632,569	61.0	60.0	60.0		1363	3.1	1.0	X		60	1,6718		0,1,2427,1863	no	missense	CLCN4	NM_001830.3	29	0,1,4059,2432	AA,AG,GG,G		0.0149,0.0,0.0095	benign	455/761	10176604	1,10551	2201	4291	6492	SO:0001583	missense	0					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chrX:10176604G>A	X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"""Ion channels / Chloride channels : Voltage-sensitive"""	2022	protein-coding gene	gene with protein product		302910	"""chloride channel 4"""			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.1363G>A	X.37:g.10176604G>A	ENSP00000370213:p.Val455Ile					CLCN4_ENST00000421085.2_Missense_Mutation_p.V361I|CLCN4_ENST00000380829.1_Missense_Mutation_p.V424I	p.V455I	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN			9	1754	+			455					A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation	SNP	ENST00000380833.4	37	c.1363G>A	CCDS14137.1	.	.	.	.	.	.	.	.	.	.	g	4.242	0.043901	0.08196	0.0	1.49E-4	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000421085	D;D;D	0.94232	-3.38;-3.38;-3.38	5.44	3.11	0.35812	Chloride channel, core (2);	0.093539	0.64402	N	0.000001	T	0.71576	0.3356	N	0.00453	-1.485	0.19300	N	0.999979	B	0.02656	0.0	B	0.04013	0.001	T	0.65446	-0.6166	10	0.02654	T	1	-10.0509	7.8195	0.29280	0.8201:0.0:0.1799:0.0	.	455	P51793	CLCN4_HUMAN	I	455;424;361	ENSP00000370213:V455I;ENSP00000370209:V424I;ENSP00000405754:V361I	ENSP00000370209:V424I	V	+	1	0	CLCN4	10136604	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	4.895000	0.63214	0.273000	0.22049	0.596000	0.82720	GTT		0.527	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1			42	54	0	0	0	1	0	42	54				
HERC2P3	283755	broad.mit.edu	37	15	20643858	20643858	+	RNA	SNP	T	T	C			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr15:20643858T>C	ENST00000428453.1	-	0	3601							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TTTCAGCTGATTCAATGGGCA	0.468																																						ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															68.0	57.0	61.0					15																	20643858		2187	4269	6456			0							g.chr15:20643858T>C	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20643858T>C														0	3601	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.468	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		40	71	0	0	0	1	0	40	71				
CFP	5199	broad.mit.edu	37	X	47485791	47485791	+	Silent	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:47485791G>A	ENST00000396992.3	-	7	1188	c.1068C>T	c.(1066-1068)gaC>gaT	p.D356D	CFP_ENST00000377005.2_Silent_p.D356D|CFP_ENST00000480317.1_5'Flank|CFP_ENST00000247153.3_Silent_p.D356D	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	356	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						ATCGATGTCCGTCAAACTTGC	0.607																																						ENST00000247153.3																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						c.(1066-1068)gaC>gaT		complement factor properdin							61.0	52.0	55.0					X																	47485791		2203	4300	6503	SO:0001819	synonymous_variant	5199				complement activation, alternative pathway|defense response to bacterium	extracellular space		g.chrX:47485791G>A	M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759		"""Complement system"""	8864	protein-coding gene	gene with protein product		300383	"""properdin P factor, complement"""	PFC		1783405	Standard	NM_001145252		Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.1068C>T	X.37:g.47485791G>A						CFP_ENST00000396992.3_Silent_p.D356D|CFP_ENST00000377005.2_Silent_p.D356D	p.D356D	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN			8	1309	-			356			TSP type-1 5.		O15134|O15135|O15136|O75826	Silent	SNP	ENST00000396992.3	37	c.1068C>T	CCDS14282.1																																																																																				0.607	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056435.2	NM_002621		6	13	0	0	0	1	0	6	13				
OR8H1	219469	broad.mit.edu	37	11	56058377	56058377	+	Silent	SNP	C	C	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr11:56058377C>T	ENST00000313022.2	-	1	189	c.162G>A	c.(160-162)caG>caA	p.Q54Q		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GAGTGTGAAGCTGGAGGTCCA	0.413																																						ENST00000313022.2																			0				NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(160-162)caG>caA		olfactory receptor, family 8, subfamily H, member 1							240.0	227.0	232.0					11																	56058377		2201	4296	6497	SO:0001819	synonymous_variant	219469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56058377C>T	AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.162G>A	11.37:g.56058377C>T							p.Q54Q	NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN			1	189	-	Esophageal squamous(21;0.00448)		54					B2RNI7|Q6IFC5	Silent	SNP	ENST00000313022.2	37	c.162G>A	CCDS31526.1																																																																																				0.413	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199		111	119	0	0	0	1	0	111	119				
LRRC32	2615	broad.mit.edu	37	11	76372296	76372296	+	Missense_Mutation	SNP	G	G	A	rs201131944	byFrequency	TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr11:76372296G>A	ENST00000407242.2	-	3	583	c.341C>T	c.(340-342)gCg>gTg	p.A114V	AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Missense_Mutation_p.A114V|LRRC32_ENST00000260061.5_Missense_Mutation_p.A114V|LRRC32_ENST00000464145.1_Intron	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	114					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)		p.A114E(1)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						AGCACTCAGCGCAGTGGCCAT	0.677													G|||	3	0.000599042	0.0	0.0	5008	,	,		15426	0.002		0.001	False		,,,				2504	0.0					ENST00000407242.2																			1	Substitution - Missense(1)	p.A114E(1)	lung(1)	endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						c.(340-342)gCg>gTg		leucine rich repeat containing 32		G	VAL/ALA,VAL/ALA	1,4399		0,1,2199	38.0	40.0	39.0		341,341	1.0	0.0	11		39	0,8584		0,0,4292	yes	missense,missense	LRRC32	NM_001128922.1,NM_005512.2	64,64	0,1,6491	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	114/663,114/663	76372296	1,12983	2200	4292	6492	SO:0001583	missense	2615					integral to plasma membrane		g.chr11:76372296G>A	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.341C>T	11.37:g.76372296G>A	ENSP00000384126:p.Ala114Val					AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_Missense_Mutation_p.A114V|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Missense_Mutation_p.A114V	p.A114V	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN			3	583	-			114					Q86V06	Missense_Mutation	SNP	ENST00000407242.2	37	c.341C>T	CCDS8245.1	3	0.0013736263736263737	0	0.0	0	0.0	2	0.0034965034965034965	1	0.0013192612137203166	G	0.708	-0.788122	0.02884	2.27E-4	0.0	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995;ENST00000421973	T;T;T;T	0.79653	-1.29;-1.29;-1.29;4.26	4.13	1.05	0.20165	.	0.921991	0.09294	N	0.821898	T	0.70657	0.3249	L	0.38175	1.15	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.06405	0.002;0.001	T	0.54918	-0.8221	10	0.34782	T	0.22	.	9.0178	0.36182	0.2592:0.0:0.7408:0.0	.	114;114	C9JYU3;Q14392	.;LRC32_HUMAN	V	114	ENSP00000260061:A114V;ENSP00000384126:A114V;ENSP00000385766:A114V;ENSP00000413331:A114V	ENSP00000260061:A114V	A	-	2	0	LRRC32	76049944	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.520000	0.22878	0.028000	0.15324	-0.254000	0.11334	GCG		0.677	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		22	30	0	0	0	1	0	22	30				
OSBPL3	26031	broad.mit.edu	37	7	24843938	24843938	+	Missense_Mutation	SNP	A	A	G			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr7:24843938A>G	ENST00000313367.2	-	22	3014	c.2563T>C	c.(2563-2565)Ttc>Ctc	p.F855L	OSBPL3_ENST00000396429.1_Missense_Mutation_p.F819L|OSBPL3_ENST00000396431.1_Missense_Mutation_p.F824L|OSBPL3_ENST00000487020.1_5'UTR|OSBPL3_ENST00000409069.1_Missense_Mutation_p.F788L|OSBPL3_ENST00000431825.2_Missense_Mutation_p.F788L|OSBPL3_ENST00000352860.1_Missense_Mutation_p.F824L|OSBPL3_ENST00000353930.1_Missense_Mutation_p.F819L	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	855					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						ACGAACCTGAAAAACCGAGGC	0.463																																						ENST00000313367.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.(2563-2565)Ttc>Ctc		oxysterol binding protein-like 3							159.0	137.0	145.0					7																	24843938		2203	4300	6503	SO:0001583	missense	26031				lipid transport		lipid binding|protein binding	g.chr7:24843938A>G	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.2563T>C	7.37:g.24843938A>G	ENSP00000315410:p.Phe855Leu					OSBPL3_ENST00000352860.1_Missense_Mutation_p.F824L|OSBPL3_ENST00000353930.1_Missense_Mutation_p.F819L|OSBPL3_ENST00000409069.1_Missense_Mutation_p.F788L|OSBPL3_ENST00000396429.1_Missense_Mutation_p.F819L|OSBPL3_ENST00000396431.1_Missense_Mutation_p.F824L|OSBPL3_ENST00000487020.1_5'UTR|OSBPL3_ENST00000431825.2_Missense_Mutation_p.F788L	p.F855L	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN			22	3014	-			855					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Missense_Mutation	SNP	ENST00000313367.2	37	c.2563T>C	CCDS5390.1	.	.	.	.	.	.	.	.	.	.	A	35	5.418354	0.96092	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	D;D;D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.95796	0.8632	H	0.98238	4.18	0.80722	D	1	P;P;D;P	0.62365	0.775;0.865;0.991;0.889	P;P;D;P	0.64237	0.689;0.689;0.923;0.88	D	0.97454	1.0030	10	0.87932	D	0	.	15.7835	0.78281	1.0:0.0:0.0:0.0	.	788;824;819;855	Q9H4L5-4;Q9H4L5-2;Q9H4L5-3;Q9H4L5	.;.;.;OSBL3_HUMAN	L	855;824;819;788;824;819;788	ENSP00000315410:F855L;ENSP00000315331:F824L;ENSP00000315277:F819L;ENSP00000389779:F788L;ENSP00000379708:F824L;ENSP00000379706:F819L;ENSP00000386953:F788L	ENSP00000315410:F855L	F	-	1	0	OSBPL3	24810463	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	8.762000	0.91711	2.127000	0.65507	0.460000	0.39030	TTC		0.463	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			41	51	0	0	0	1	0	41	51				
WDR72	256764	broad.mit.edu	37	15	53907717	53907717	+	Nonsense_Mutation	SNP	G	G	A	rs557128345		TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr15:53907717G>A	ENST00000396328.1	-	15	2925	c.2686C>T	c.(2686-2688)Cga>Tga	p.R896*	WDR72_ENST00000559418.1_Nonsense_Mutation_p.R906*|WDR72_ENST00000360509.5_Nonsense_Mutation_p.R896*|WDR72_ENST00000557913.1_Nonsense_Mutation_p.R893*	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	896										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TCTGACTCTCGCAAAGAATCA	0.343													G|||	1	0.000199681	0.0	0.0	5008	,	,		16181	0.0		0.0	False		,,,				2504	0.001					ENST00000396328.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(2686-2688)Cga>Tga		WD repeat domain 72							46.0	46.0	46.0					15																	53907717		2193	4293	6486	SO:0001587	stop_gained	256764							g.chr15:53907717G>A	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2686C>T	15.37:g.53907717G>A	ENSP00000379619:p.Arg896*					WDR72_ENST00000360509.5_Nonsense_Mutation_p.R896*|WDR72_ENST00000559418.1_Nonsense_Mutation_p.R906*|WDR72_ENST00000557913.1_Nonsense_Mutation_p.R893*	p.R896*	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	15	2925	-			896					Q7Z3I3|Q8N8X2	Nonsense_Mutation	SNP	ENST00000396328.1	37	c.2686C>T	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097598	0.76870	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	.	.	.	5.72	3.83	0.44106	.	0.518793	0.19062	N	0.123750	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	4.4279	0.11513	0.0777:0.1251:0.545:0.2522	.	.	.	.	X	896	.	ENSP00000353699:R896X	R	-	1	2	WDR72	51695009	0.170000	0.23016	0.443000	0.26883	0.158000	0.22134	2.479000	0.45197	0.755000	0.32990	0.655000	0.94253	CGA		0.343	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		18	30	0	0	0	1	0	18	30				
ADAM28	10863	broad.mit.edu	37	8	24187604	24187604	+	Missense_Mutation	SNP	T	T	C			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr8:24187604T>C	ENST00000265769.4	+	11	1189	c.1079T>C	c.(1078-1080)aTa>aCa	p.I360T	ADAM28_ENST00000397649.3_Missense_Mutation_p.I107T|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000518516.1_3'UTR|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.I360T|ADAM28_ENST00000540823.1_Missense_Mutation_p.I127T|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	360	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CCTTCTACAATATGTGTGATG	0.473																																					NSCLC(193;488 2149 22258 34798 40734)	ENST00000265769.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1078-1080)aTa>aCa		ADAM metallopeptidase domain 28							142.0	127.0	132.0					8																	24187604		2203	4300	6503	SO:0001583	missense	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24187604T>C	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.1079T>C	8.37:g.24187604T>C	ENSP00000265769:p.Ile360Thr					ADAM28_ENST00000540823.1_Missense_Mutation_p.I127T|ADAM28_ENST00000397649.3_Missense_Mutation_p.I107T|ADAM28_ENST00000437154.2_Missense_Mutation_p.I360T|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000518516.1_3'UTR|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	p.I360T	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	11	1189	+		Prostate(55;0.0959)	360			Peptidase M12B.		B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	ENST00000265769.4	37	c.1079T>C	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	T	0.527	-0.859696	0.02610	.	.	ENSG00000042980	ENST00000265769;ENST00000397649;ENST00000540823;ENST00000437154	T;T;T;T	0.08807	3.05;3.05;3.05;3.05	5.71	-2.96	0.05547	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	T	0.02533	0.0077	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.18166	0.0;0.026;0.026;0.002	B;B;B;B	0.17722	0.002;0.019;0.019;0.007	T	0.45789	-0.9237	9	0.17369	T	0.5	.	1.7074	0.02884	0.3849:0.0748:0.2488:0.2915	.	127;360;360;360	B4DDY3;B2RMV5;Q9UKQ2;Q9UKQ2-2	.;.;ADA28_HUMAN;.	T	360;107;127;360	ENSP00000265769:I360T;ENSP00000380770:I107T;ENSP00000443743:I127T;ENSP00000393699:I360T	ENSP00000265769:I360T	I	+	2	0	ADAM28	24243549	0.000000	0.05858	0.001000	0.08648	0.078000	0.17371	0.230000	0.17852	-0.487000	0.06735	-1.862000	0.00560	ATA		0.473	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		6	61	0	0	0	1	0	6	61				
PHEX	5251	broad.mit.edu	37	X	22245635	22245635	+	Missense_Mutation	SNP	A	A	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:22245635A>T	ENST00000379374.4	+	20	2542	c.1977A>T	c.(1975-1977)aaA>aaT	p.K659N	PHEX_ENST00000535894.1_Missense_Mutation_p.K562N|PHEX_ENST00000418858.3_Missense_Mutation_p.K362N|PHEX_ENST00000537599.1_Missense_Mutation_p.K659N	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	659					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						CTTACAGGAAATGGATAAATG	0.453																																						ENST00000379374.4																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1975-1977)aaA>aaT		phosphate regulating endopeptidase homolog, X-linked							118.0	89.0	99.0					X																	22245635		2203	4300	6503	SO:0001583	missense	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22245635A>T	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.1977A>T	X.37:g.22245635A>T	ENSP00000368682:p.Lys659Asn					PHEX_ENST00000537599.1_Missense_Mutation_p.K659N|PHEX_ENST00000418858.3_Missense_Mutation_p.K362N|PHEX_ENST00000535894.1_Missense_Mutation_p.K562N	p.K659N	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN			20	2542	+			659					O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	ENST00000379374.4	37	c.1977A>T	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	A	10.25	1.297338	0.23650	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894;ENST00000418858	D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83	5.38	2.99	0.34606	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.045385	0.85682	D	0.000000	T	0.79094	0.4388	N	0.11255	0.115	0.42414	D	0.992613	B;P	0.35226	0.435;0.491	B;B	0.37015	0.154;0.239	T	0.69007	-0.5259	10	0.21540	T	0.41	.	7.9747	0.30149	0.7616:0.0:0.2384:0.0	.	659;659	F5GXU4;P78562	.;PHEX_HUMAN	N	659;659;562;362	ENSP00000368682:K659N;ENSP00000440362:K659N;ENSP00000439418:K562N;ENSP00000443531:K362N	ENSP00000368682:K659N	K	+	3	2	PHEX	22155556	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.685000	0.37659	0.217000	0.20800	0.486000	0.48141	AAA		0.453	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444		28	25	0	0	0	1	0	28	25				
MAP3K4	4216	broad.mit.edu	37	6	161469730	161469730	+	Silent	SNP	G	G	A			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr6:161469730G>A	ENST00000392142.4	+	3	574	c.426G>A	c.(424-426)caG>caA	p.Q142Q	MAP3K4_ENST00000366919.2_Silent_p.Q142Q|MAP3K4_ENST00000446500.1_3'UTR|MAP3K4_ENST00000366920.2_Silent_p.Q142Q|MAP3K4_ENST00000348824.7_Silent_p.Q142Q	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	142					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GCTATAAGCAGGAGAAAAAGA	0.373																																						ENST00000392142.4																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(424-426)caG>caA		mitogen-activated protein kinase kinase kinase 4							91.0	96.0	94.0					6																	161469730		2203	4300	6503	SO:0001819	synonymous_variant	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161469730G>A	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.426G>A	6.37:g.161469730G>A						MAP3K4_ENST00000446500.1_3'UTR|MAP3K4_ENST00000366919.2_Silent_p.Q142Q|MAP3K4_ENST00000366920.2_Silent_p.Q142Q|MAP3K4_ENST00000348824.7_Silent_p.Q142Q	p.Q142Q	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	3	574	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	142					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Silent	SNP	ENST00000392142.4	37	c.426G>A	CCDS34565.1																																																																																				0.373	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			27	36	0	0	0	1	0	27	36				
LOC101927533	101927533	broad.mit.edu	37	2	65893473	65893473	+	lincRNA	DEL	T	T	-	rs202182137	byFrequency	TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr2:65893473delT	ENST00000377977.3	+	0	862				AC007389.4_ENST00000583614.1_RNA																							cctgggcccctgatgagtcat	0.493													T|T|-|deletion	34	0.00678914	0.0015	0.0115	5008	,	,		21387	0.0		0.0229	False		,,,				2504	0.001					ENST00000377977.3																			0																																																			0							g.chr2:65893473delT																													2.37:g.65893473delT														0	862	+									RNA	DEL	ENST00000377977.3	37																																																																																						0.493	AC074391.1-010	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470883.1			4	4						4	4	---	---	---	---
ADRA2B	151	broad.mit.edu	37	2	96780731	96780733	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr2:96780731_96780733delGAA	ENST00000409345.3	-	1	1251_1253	c.1156_1158delTTC	c.(1156-1158)ttcdel	p.F386del		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	386					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GGCTGTAGCTGAAGAAGAAGGGG	0.596																																						ENST00000409345.3																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16						c.(1156-1158)del		adrenoceptor alpha 2B	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)																																			SO:0001651	inframe_deletion	151				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding	g.chr2:96780731_96780733delGAA	M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"""GPCR / Class A : Adrenoceptors : alpha"""	282	protein-coding gene	gene with protein product		104260	"""adrenergic, alpha-2B-, receptor"""	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.1156_1158delTTC	2.37:g.96780737_96780739delGAA	ENSP00000387281:p.Phe386del						p.F386del	NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN			1	1251_1253	-			389					Q4TUH9|Q53RF2|Q9BZK0	In_Frame_Del	DEL	ENST00000409345.3	37	c.1156_1158delTTC	CCDS56129.1																																																																																				0.596	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1			12	17						12	17	---	---	---	---
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000442996.1																			0																																																			0							g.chr2:175585079delA																													2.37:g.175585079delA			OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1924									0	217	+									RNA	DEL	ENST00000442996.1	37																																																																																						0.368	AC018890.6-002	KNOWN	basic	antisense	antisense	OTTHUMT00000334128.1			2	4						2	4	---	---	---	---
ZNF876P	642280	broad.mit.edu	37	4	206661	206664	+	RNA	DEL	CGAA	CGAA	-			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr4:206661_206664delCGAA	ENST00000356347.3	+	0	172					NR_027481.1		Q49A33	Z876P_HUMAN	zinc finger protein 876, pseudogene						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										ACCCAGTCTGCGAACGGAGTCCCC	0.73																																						ENST00000356347.3																			0																																																			0							g.chr4:206661_206664delCGAA	BC028359		4p16.3	2011-04-20	2010-08-03	2009-07-22	ENSG00000198155	ENSG00000198155			32472	pseudogene	pseudogene							Standard	NR_027481		Approved		uc010iba.4	Q49A33	OTTHUMG00000159874		4.37:g.206661_206664delCGAA								NR_027481.1						0	172	+									RNA	DEL	ENST00000356347.3	37																																																																																						0.730	ZNF876P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357870.2	NR_027481		6	9						6	9	---	---	---	---
PLG	5340	broad.mit.edu	37	6	161152785	161152786	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr6:161152785_161152786delTT	ENST00000308192.9	+	12	1510_1511	c.1447_1448delTT	c.(1447-1449)tttfs	p.F483fs		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	483	Kringle 5. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AGACTGTATGTTTGGGAATGGG	0.495																																						ENST00000308192.9																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59						c.(1447-1449)tfs		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)																																			SO:0001589	frameshift_variant	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161152785_161152786delTT	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.1447_1448delTT	6.37:g.161152785_161152786delTT	ENSP00000308938:p.Phe483fs						p.F483fs	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	12	1510_1511	+			483			Kringle 5.		Q15146|Q5TEH4|Q6PA00	Frame_Shift_Del	DEL	ENST00000308192.9	37	c.1447_1448delTT	CCDS5279.1																																																																																				0.495	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		28	50						28	50	---	---	---	---
VKORC1L1	154807	broad.mit.edu	37	7	65419354	65419356	+	3'UTR	DEL	TTA	TTA	-	rs577125188|rs71982071	byFrequency	TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr7:65419354_65419356delTTA	ENST00000360768.3	+	0	703_705				VKORC1L1_ENST00000434382.2_In_Frame_Del_p.I171del	NM_001284342.1|NM_173517.4	NP_001271271.1|NP_775788.2	Q8N0U8	VKORL_HUMAN	vitamin K epoxide reductase complex, subunit 1-like 1						cellular response to oxidative stress (GO:0034599)|peptidyl-glutamic acid carboxylation (GO:0017187)|vitamin K metabolic process (GO:0042373)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	quinone binding (GO:0048038)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			large_intestine(1)|prostate(1)	2		Lung NSC(55;0.197)			Menadione(DB00170)	CAGCAGGTTTttattattattat	0.409																																						ENST00000434382.2																			0				large_intestine(1)|prostate(1)	2						c.(487-492)ttt>t		vitamin K epoxide reductase complex, subunit 1-like 1	Menadione(DB00170)|Warfarin(DB00682)																																			SO:0001624	3_prime_UTR_variant	154807					integral to membrane		g.chr7:65419354_65419356delTTA		CCDS5529.1, CCDS64663.1	7q11.21	2013-10-07			ENSG00000196715	ENSG00000196715			21492	protein-coding gene	gene with protein product		608838				23928358	Standard	NM_001284342		Approved		uc003tul.3	Q8N0U8	OTTHUMG00000129449	ENST00000360768.3:c.*69TTA>-	7.37:g.65419363_65419365delTTA						VKORC1L1_ENST00000360768.3_3'UTR	p.FI163del			Q8N0U8	VKORL_HUMAN			2	491_493	+		Lung NSC(55;0.197)	0					B4E222|E7ETM5|Q6AHW9|Q6TEK6	In_Frame_Del	DEL	ENST00000360768.3	37	c.488_490delTTA	CCDS5529.1																																																																																				0.409	VKORC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251612.3	NM_173517		2	4						2	4	---	---	---	---
PMS2P3	5387	broad.mit.edu	37	7	75142142	75142142	+	RNA	DEL	A	A	-	rs35519730	byFrequency	TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr7:75142142delA	ENST00000418756.1	-	0	991				Y_RNA_ENST00000364004.1_RNA	NR_028059.1		Q13401	PM2P3_HUMAN	postmeiotic segregation increased 2 pseudogene 3						mismatch repair (GO:0006298)|regulation of transcription, DNA-templated (GO:0006355)	mismatch repair complex (GO:0032300)	nucleic acid binding (GO:0003676)			lung(1)	1						tctcaaaaagaaaaaaaaaaa	0.418													|||unknown(NO_COVERAGE)	2287	0.456669	0.1619	0.6037	5008	,	,		12703	0.6558		0.4861	False		,,,				2504	0.5153				NSCLC(70;602 1339 5301 18528 38453)	ENST00000418756.1																			0				lung(1)	1																																														0							g.chr7:75142142delA	D38437		7q11.23	2010-10-26	2010-10-26	2010-10-26	ENSG00000127957	ENSG00000127957			9128	pseudogene	pseudogene			"""postmeiotic segregation increased 2-like 3"", ""postmeiotic segregation increased 2-like 3, pseudogene"""	PMS2L9, PMS2L3		8586419	Standard	NR_028059		Approved	PMS5, PMSR3	uc022agi.1	Q13401	OTTHUMG00000156049		7.37:g.75142142delA								NR_028059.1						0	991	-								A6NG70|Q3MJ29	RNA	DEL	ENST00000418756.1	37																																																																																						0.418	PMS2P3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000342862.2	NR_028059		5	7						5	7	---	---	---	---
NOX4	50507	broad.mit.edu	37	11	89106662	89106663	+	Splice_Site	INS	-	-	A	rs548576417|rs552289081|rs56022003	byFrequency	TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr11:89106662_89106663insA	ENST00000263317.4	-	12	1313		c.e12-2		NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000535633.1_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.?(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTTGGACACTAAAAAAAAATA	0.292													?|AAAAAAAAA|AAAAAAAAAA|unsure	31	0.0061901	0.0227	0.0014	5008	,	,		14064	0.0		0.0	False		,,,				2504	0.0					ENST00000535633.1																			1	Unknown(1)	p.?(1)	ovary(1)	NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44						c.e12-2		NADPH oxidase 4			,,	92,4164		2,88,2038					,,	5.2	1.0		dbSNP_129	80	7,8213		0,7,4103	no	splice-3,splice-3,splice-3	NOX4	NM_016931.3,NM_001143837.1,NM_001143836.1	,,	2,95,6141	A1A1,A1R,RR		0.0852,2.1617,0.7935	,,	,,		99,12377				SO:0001630	splice_region_variant	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89106662_89106663insA	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1075-2->T	11.37:g.89106671_89106671dupA						NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000263317.4_Splice_Site		NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN			12	1313	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)						A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Splice_Site	INS	ENST00000263317.4	37		CCDS8285.1																																																																																				0.292	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931	Intron	9	148						9	148	---	---	---	---
DGKA	1606	broad.mit.edu	37	12	56347145	56347145	+	Frame_Shift_Del	DEL	C	C	-			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr12:56347145delC	ENST00000331886.5	+	23	2529	c.2075delC	c.(2074-2076)accfs	p.T692fs	DGKA_ENST00000551156.1_Frame_Shift_Del_p.T692fs|DGKA_ENST00000394147.1_Frame_Shift_Del_p.T692fs|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	692					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	ACCACAAAAACCCTTCCCATG	0.463																																						ENST00000331886.5																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25						c.(2074-2076)acfs		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)						273.0	268.0	270.0					12																	56347145		2203	4300	6503	SO:0001589	frameshift_variant	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56347145delC	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.2075delC	12.37:g.56347145delC	ENSP00000328405:p.Thr692fs					DGKA_ENST00000551156.1_Frame_Shift_Del_p.T692fs|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Frame_Shift_Del_p.T692fs	p.T692fs	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN			23	2529	+			692					O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Frame_Shift_Del	DEL	ENST00000331886.5	37	c.2075delC	CCDS8896.1																																																																																				0.463	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			143	179						143	179	---	---	---	---
KCNMB4	27345	broad.mit.edu	37	12	70824293	70824294	+	In_Frame_Ins	INS	-	-	ATGATG			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr12:70824293_70824294insATGATG	ENST00000258111.4	+	3	952_953	c.493_494insATGATG	c.(493-495)cat>cATGATGat	p.165_166insDD		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	165					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of neurotransmitter secretion (GO:0046928)|regulation of vasoconstriction (GO:0019229)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		Miconazole(DB01110)|Procaine(DB00721)	GCATCGCACTCATGATGAGATT	0.49																																						ENST00000258111.4																			0				kidney(1)|large_intestine(4)|lung(5)	10						c.(493-495)tga>ATGATGtga		potassium large conductance calcium-activated channel, subfamily M, beta member 4																																				SO:0001652	inframe_insertion	27345				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding	g.chr12:70824293_70824294insATGATG	AF207992	CCDS8997.1	12q15	2006-06-10			ENSG00000135643	ENSG00000135643		"""Potassium channels"""	6289	protein-coding gene	gene with protein product		605223				10692449, 10828459	Standard	NM_014505		Approved		uc001svx.3	Q86W47	OTTHUMG00000167586	ENST00000258111.4:c.494_499dupATGATG	12.37:g.70824294_70824299dupATGATG	ENSP00000258111:p.His165_Asp166insAspAsp						p.164_165insMM	NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		3	952_953	+	Renal(347;0.236)		164					Q8IVR3|Q9NPA4|Q9P0G5	In_Frame_Ins	INS	ENST00000258111.4	37	c.493_494insATGATG	CCDS8997.1																																																																																				0.490	KCNMB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395208.1	NM_014505		39	83						39	83	---	---	---	---
RP11-796E2.4	0	broad.mit.edu	37	12	92562665	92562666	+	RNA	INS	-	-	A	rs111983039		TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr12:92562665_92562666insA	ENST00000499685.2	+	0	164				RP11-796E2.4_ENST00000501008.2_RNA|Y_RNA_ENST00000363025.1_RNA																							AGTAGGTGTTTAAAAAAAAAAA	0.401																																						ENST00000499685.2																			0																																																			0							g.chr12:92562665_92562666insA																													12.37:g.92562676_92562676dupA														0	164	+									RNA	INS	ENST00000499685.2	37																																																																																						0.401	RP11-796E2.4-002	KNOWN	basic	antisense	antisense	OTTHUMT00000407232.1			2	4						2	4	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76889121	76889122	+	Frame_Shift_Ins	INS	-	-	T			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:76889121_76889122insT	ENST00000373344.5	-	18	5102_5103	c.4888_4889insA	c.(4888-4890)actfs	p.T1630fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.T1592fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1630	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ATTCAAAGCAGTATTAAGAGGA	0.337			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(4888-4890)tgcfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76889121_76889122insT	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4889dupA	X.37:g.76889122_76889122dupT	ENSP00000362441:p.Thr1630fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.C1592fs	p.C1630fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			18	5102_5103	-			1630			Helicase ATP-binding.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	c.4888_4889insA	CCDS14434.1																																																																																				0.337	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		40	57						40	57	---	---	---	---
