#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
GPLD1	2822	broad.mit.edu	37	6	24463024	24463024	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr6:24463024C>T	ENST00000230036.1	-	11	932		c.e11-1			NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1						cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GTTGCAGTCACTGAGGAAACA	0.443																																						ENST00000230036.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						c.e11-1		glycosylphosphatidylinositol specific phospholipase D1							123.0	120.0	121.0					6																	24463024		2203	4300	6503	SO:0001630	splice_region_variant	2822					extracellular region	glycosylphosphatidylinositol phospholipase D activity	g.chr6:24463024C>T	L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.822-1G>A	6.37:g.24463024C>T								NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN			11	932	-								Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Splice_Site	SNP	ENST00000230036.1	37		CCDS4553.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.799787	0.31869	.	.	ENSG00000112293	ENST00000230036	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9003	0.86112	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GPLD1	24571003	1.000000	0.71417	0.974000	0.42286	0.075000	0.17131	4.520000	0.60524	2.726000	0.93360	0.655000	0.94253	.		0.443	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503	Intron	28	38	0	0	0	1	0	28	38				
PIK3CG	5294	broad.mit.edu	37	7	106508563	106508563	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr7:106508563C>T	ENST00000359195.3	+	2	867	c.557C>T	c.(556-558)gCg>gTg	p.A186V	PIK3CG_ENST00000440650.2_Missense_Mutation_p.A186V|PIK3CG_ENST00000496166.1_Missense_Mutation_p.A186V	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	186					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCGCGCATGGCGGAGGTGGCC	0.637																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(556-558)gCg>gTg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							50.0	56.0	54.0					7																	106508563		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508563C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.557C>T	7.37:g.106508563C>T	ENSP00000352121:p.Ala186Val					PIK3CG_ENST00000496166.1_Missense_Mutation_p.A186V|PIK3CG_ENST00000440650.2_Missense_Mutation_p.A186V	p.A186V	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			2	867	+			186					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.557C>T	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	C	4.679	0.126186	0.08931	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.70516	-0.49;-0.49;-0.49	5.33	3.5	0.40072	.	0.407307	0.28230	N	0.016103	T	0.56485	0.1988	L	0.40543	1.245	0.28627	N	0.907858	B	0.18610	0.029	B	0.08055	0.003	T	0.49995	-0.8879	10	0.38643	T	0.18	-9.345	6.5964	0.22677	0.0:0.6387:0.0:0.3613	.	186	P48736	PK3CG_HUMAN	V	186	ENSP00000392258:A186V;ENSP00000419260:A186V;ENSP00000352121:A186V	ENSP00000352121:A186V	A	+	2	0	PIK3CG	106295799	0.995000	0.38212	0.876000	0.34364	0.256000	0.26092	2.700000	0.47085	1.386000	0.46466	0.467000	0.42956	GCG		0.637	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			23	35	0	0	0	1	0	23	35				
NHP2	55651	broad.mit.edu	37	5	177577924	177577924	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr5:177577924G>A	ENST00000274606.3	-	3	450	c.301C>T	c.(301-303)Cga>Tga	p.R101*	NHP2_ENST00000314397.4_Intron	NM_017838.3	NP_060308.1	Q9NX24	NHP2_HUMAN	NHP2 ribonucleoprotein	101					rRNA pseudouridine synthesis (GO:0031118)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			endometrium(1)|kidney(1)|ovary(2)	4						GGCAAATTTCGGTCCTCACAC	0.512																																						ENST00000274606.3																			0				endometrium(1)|kidney(1)|ovary(2)	4						c.(301-303)Cga>Tga		NHP2 ribonucleoprotein							274.0	251.0	259.0					5																	177577924		2203	4300	6503	SO:0001587	stop_gained	55651				rRNA pseudouridine synthesis	Cajal body|nucleolus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr5:177577924G>A	AF161404	CCDS4432.1, CCDS34308.1	5q35.3	2014-09-17	2012-12-10	2008-10-13	ENSG00000145912	ENSG00000145912			14377	protein-coding gene	gene with protein product		606470	"""nucleolar protein family A, member 2 (H/ACA small nucleolar RNPs)"", ""NHP2 ribonucleoprotein homolog (yeast)"""	NOLA2		11074001	Standard	NM_017838		Approved	FLJ20479	uc003mir.2	Q9NX24	OTTHUMG00000130886	ENST00000274606.3:c.301C>T	5.37:g.177577924G>A	ENSP00000274606:p.Arg101*					NHP2_ENST00000314397.4_Intron	p.R101*	NM_017838.3	NP_060308.1	Q9NX24	NHP2_HUMAN			3	450	-			101					A6NKY8|Q9P095	Nonsense_Mutation	SNP	ENST00000274606.3	37	c.301C>T	CCDS4432.1	.	.	.	.	.	.	.	.	.	.	g	19.48	3.836198	0.71373	.	.	ENSG00000145912	ENST00000274606;ENST00000502263;ENST00000514354;ENST00000511078	.	.	.	5.22	5.22	0.72569	.	0.110503	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-15.1705	16.2705	0.82616	0.0:0.0:1.0:0.0	.	.	.	.	X	101;54;101;101	.	ENSP00000274606:R101X	R	-	1	2	NHP2	177510530	1.000000	0.71417	0.982000	0.44146	0.668000	0.39293	2.323000	0.43823	2.419000	0.82065	0.563000	0.77884	CGA		0.512	NHP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253471.1	NM_017838		6	215	0	0	0	1	0	6	215				
NBAS	51594	broad.mit.edu	37	2	15358960	15358960	+	Silent	SNP	G	G	A			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr2:15358960G>A	ENST00000281513.5	-	48	6394	c.6369C>T	c.(6367-6369)gaC>gaT	p.D2123D	NBAS_ENST00000441750.1_Silent_p.D2003D	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2123					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GGAGCTTGCTGTCCTCCTCAG	0.527																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(6367-6369)gaC>gaT		neuroblastoma amplified sequence							71.0	75.0	73.0					2																	15358960		2203	4300	6503	SO:0001819	synonymous_variant	51594							g.chr2:15358960G>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.6369C>T	2.37:g.15358960G>A						NBAS_ENST00000441750.1_Silent_p.D2003D	p.D2123D	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			48	6394	-			2123					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	37	c.6369C>T	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	G	8.716	0.913115	0.17907	.	.	ENSG00000151779	ENST00000442506	.	.	.	5.63	-0.858	0.10689	.	.	.	.	.	T	0.58409	0.2120	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52480	-0.8570	4	.	.	.	.	11.5515	0.50723	0.4746:0.0:0.5254:0.0	.	.	.	.	I	1171	.	.	T	-	2	0	NBAS	15276411	0.997000	0.39634	0.086000	0.20670	0.994000	0.84299	0.373000	0.20484	-0.519000	0.06444	0.591000	0.81541	ACA		0.527	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		34	47	0	0	0	1	0	34	47				
LRRTM1	347730	broad.mit.edu	37	2	80530137	80530137	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr2:80530137A>G	ENST00000295057.3	-	2	1464	c.808T>C	c.(808-810)Tac>Cac	p.Y270H	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.Y270H|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	270					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GGCTCCATGTACTCGATCTCG	0.597										HNSCC(69;0.2)																												ENST00000295057.3																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						c.(808-810)Tac>Cac		leucine rich repeat transmembrane neuronal 1							80.0	78.0	79.0					2																	80530137		2203	4300	6503	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530137A>G	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.808T>C	2.37:g.80530137A>G	ENSP00000295057:p.Tyr270His	HNSCC(69;0.2)				CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.Y270H|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron	p.Y270H	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN			2	1464	-			270					A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.808T>C	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	A	6.522	0.464603	0.12402	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.58060	0.36;0.36	5.26	5.26	0.73747	.	0.144722	0.47852	U	0.000205	T	0.38134	0.1029	N	0.17631	0.505	0.58432	D	0.999995	B	0.13145	0.007	B	0.17433	0.018	T	0.17806	-1.0357	9	.	.	.	.	15.1528	0.72713	1.0:0.0:0.0:0.0	.	270	Q86UE6	LRRT1_HUMAN	H	270	ENSP00000295057:Y270H;ENSP00000386646:Y270H	.	Y	-	1	0	LRRTM1	80383648	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.115000	0.71566	1.956000	0.56807	0.533000	0.62120	TAC		0.597	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		13	24	0	0	0	1	0	13	24				
ZFP36L1	677	broad.mit.edu	37	14	69262657	69262657	+	5'Flank	SNP	G	G	C			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr14:69262657G>C	ENST00000439696.2	-	0	0				ZFP36L1_ENST00000336440.3_5'Flank|ZFP36L1_ENST00000408913.2_Missense_Mutation_p.L119V	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1						gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CAGGTGCCCAGGGGTGGCGGG	0.751																																						ENST00000408913.2																			0				breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21						c.(355-357)Ctg>Gtg		ZFP36 ring finger protein-like 1							11.0	15.0	13.0					14																	69262657		2134	4117	6251	SO:0001631	upstream_gene_variant	677				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:69262657G>C	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352			14.37:g.69262657G>C	Exception_encountered						p.L119V			Q07352	TISB_HUMAN		all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	1	533	-			0					Q13851	Missense_Mutation	SNP	ENST00000439696.2	37	c.355C>G	CCDS9791.1	.	.	.	.	.	.	.	.	.	.	G	7.343	0.621257	0.14193	.	.	ENSG00000185650	ENST00000408913	.	.	.	3.01	-0.843	0.10744	.	.	.	.	.	T	0.34832	0.0911	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.39187	-0.9626	5	0.87932	D	0	.	3.263	0.06855	0.3075:0.0:0.4966:0.1959	.	.	.	.	V	119	.	ENSP00000386220:L119V	L	-	1	2	ZFP36L1	68332410	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	1.596000	0.36718	-0.012000	0.14223	0.407000	0.27541	CTG		0.751	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1			9	15	0	0	0	1	0	9	15				
TSHZ1	10194	broad.mit.edu	37	18	72997682	72997682	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr18:72997682C>T	ENST00000580243.1	+	2	668	c.320C>T	c.(319-321)tCg>tTg	p.S107L	TSHZ1_ENST00000322038.5_Missense_Mutation_p.S62L			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	107	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GACAGCGTCTCGTACCCCCAG	0.552																																						ENST00000322038.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42						c.(184-186)tCg>tTg		teashirt zinc finger homeobox 1							97.0	80.0	86.0					18																	72997682		2203	4300	6503	SO:0001583	missense	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72997682C>T	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.320C>T	18.37:g.72997682C>T	ENSP00000464391:p.Ser107Leu					TSHZ1_ENST00000580243.1_Missense_Mutation_p.S107L	p.S62L	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	769	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	107			Ser-rich.		O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37	c.185C>T		.	.	.	.	.	.	.	.	.	.	C	8.439	0.850361	0.17034	.	.	ENSG00000179981	ENST00000322038	T	0.11930	2.73	4.96	4.96	0.65561	.	0.236192	0.36167	N	0.002755	T	0.17450	0.0419	L	0.46157	1.445	0.26447	N	0.97568	B	0.09022	0.002	B	0.04013	0.001	T	0.26985	-1.0087	10	0.49607	T	0.09	-23.2113	18.2277	0.89923	0.0:1.0:0.0:0.0	.	107	Q6ZSZ6	TSH1_HUMAN	L	62	ENSP00000323584:S62L	ENSP00000323584:S62L	S	+	2	0	TSHZ1	71126670	1.000000	0.71417	0.325000	0.25375	0.076000	0.17211	5.389000	0.66255	-1.760000	0.01312	-4.989000	0.00002	TCG		0.552	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		22	30	0	0	0	1	0	22	30				
UBASH3A	53347	broad.mit.edu	37	21	43829693	43829693	+	Silent	SNP	C	C	T	rs192044505		TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr21:43829693C>T	ENST00000319294.6	+	3	361	c.330C>T	c.(328-330)caC>caT	p.H110H	UBASH3A_ENST00000398367.1_Silent_p.H110H|UBASH3A_ENST00000450356.1_Silent_p.H110H|UBASH3A_ENST00000291535.6_Silent_p.H110H	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	110					negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						TCTTCCCACACGTGACACTCT	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		20639	0.001		0.0	False		,,,				2504	0.0					ENST00000319294.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						c.(328-330)caC>caT		ubiquitin associated and SH3 domain containing A							130.0	112.0	118.0					21																	43829693		2203	4300	6503	SO:0001819	synonymous_variant	53347					cytosol|nucleus		g.chr21:43829693C>T	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.330C>T	21.37:g.43829693C>T						UBASH3A_ENST00000291535.6_Silent_p.H110H|UBASH3A_ENST00000398367.1_Silent_p.H110H|UBASH3A_ENST00000450356.1_Silent_p.H110H	p.H110H	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN			3	361	+			110					G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Silent	SNP	ENST00000319294.6	37	c.330C>T	CCDS13687.1																																																																																				0.532	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895		35	51	0	0	0	1	0	35	51				
DNAJA4	55466	broad.mit.edu	37	15	78558597	78558597	+	Intron	SNP	C	C	T	rs541929187		TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr15:78558597C>T	ENST00000394852.3	+	1	322				RP11-762H8.3_ENST00000558971.1_RNA|DNAJA4_ENST00000343789.3_Intron|RP11-762H8.3_ENST00000559954.1_RNA|DNAJA4_ENST00000394855.3_Intron|DNAJA4_ENST00000446172.2_Silent_p.L5L	NM_001130182.1	NP_001123654.1	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4						negative regulation of inclusion body assembly (GO:0090084)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						GTGGGAAAGCCTGACCCTGGA	0.423													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20730	0.0		0.0	False		,,,				2504	0.0					ENST00000446172.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						c.(13-15)Ctg>Ttg		DnaJ (Hsp40) homolog, subfamily A, member 4							83.0	79.0	80.0					15																	78558597		1561	3575	5136	SO:0001627	intron_variant	55466				protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding	g.chr15:78558597C>T	AF116663	CCDS10299.2, CCDS45316.1, CCDS45317.1	15q24.1	2011-09-02			ENSG00000140403	ENSG00000140403		"""Heat shock proteins / DNAJ (HSP40)"""	14885	protein-coding gene	gene with protein product						11147971	Standard	NM_018602		Approved	PRO1472	uc002bdi.3	Q8WW22	OTTHUMG00000143733	ENST00000394852.3:c.132+1360C>T	15.37:g.78558597C>T						DNAJA4_ENST00000394852.3_Intron|DNAJA4_ENST00000394855.3_Intron|DNAJA4_ENST00000343789.3_Intron	p.L5L	NM_001130183.1	NP_001123655.1	Q8WW22	DNJA4_HUMAN			1	75	+			0			J.		E9PDM9|Q6AW87|Q8N5Z4|Q8N7P2	Silent	SNP	ENST00000394852.3	37	c.13C>T	CCDS45316.1																																																																																				0.423	DNAJA4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289801.1	NM_018602		18	16	0	0	0	1	0	18	16				
WDR13	64743	broad.mit.edu	37	X	48462709	48462709	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chrX:48462709G>A	ENST00000218056.5	+	8	1709	c.1204G>A	c.(1204-1206)Gag>Aag	p.E402K	WDR13_ENST00000376729.5_Missense_Mutation_p.E402K	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	402						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						CTTCCCCATCGAGCAGAGCTC	0.612																																						ENST00000218056.5																			0				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						c.(1204-1206)Gag>Aag		WD repeat domain 13							86.0	64.0	71.0					X																	48462709		2203	4300	6503	SO:0001583	missense	64743					cytoplasm|nucleus		g.chrX:48462709G>A	AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"""WD repeat domain containing"""	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.1204G>A	X.37:g.48462709G>A	ENSP00000218056:p.Glu402Lys						p.E402K	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353.2	Q9H1Z4	WDR13_HUMAN			8	1709	+			402					Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Missense_Mutation	SNP	ENST00000218056.5	37	c.1204G>A	CCDS14302.1	.	.	.	.	.	.	.	.	.	.	G	9.052	0.992384	0.18966	.	.	ENSG00000101940	ENST00000376729;ENST00000218056	T;T	0.65178	-0.14;-0.14	5.74	4.83	0.62350	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.109185	0.64402	D	0.000006	T	0.29684	0.0741	N	0.02142	-0.665	0.41042	D	0.985233	B	0.02656	0.0	B	0.04013	0.001	T	0.34104	-0.9842	10	0.05525	T	0.97	-12.1882	11.1891	0.48675	0.0:0.309:0.691:0.0	.	402	Q9H1Z4	WDR13_HUMAN	K	402	ENSP00000365919:E402K;ENSP00000218056:E402K	ENSP00000218056:E402K	E	+	1	0	WDR13	48347653	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.961000	0.56759	2.400000	0.81607	0.597000	0.82753	GAG		0.612	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060743.2			10	3	0	0	0	1	0	10	3				
KIRREL	55243	broad.mit.edu	37	1	158057581	158057581	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr1:158057581C>T	ENST00000359209.6	+	6	765	c.698C>T	c.(697-699)aCg>aTg	p.T233M	KIRREL_ENST00000368173.3_Missense_Mutation_p.T233M|KIRREL_ENST00000360089.4_Missense_Mutation_p.T69M|KIRREL_ENST00000392272.2_Missense_Mutation_p.T130M|KIRREL_ENST00000368172.1_Missense_Mutation_p.T31M|KIRREL_ENST00000416935.2_Missense_Mutation_p.T133M			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	233	Ig-like C2-type 3.				excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)	p.T233R(2)|p.T69R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GAGCCACAGACGGTGCAGGAG	0.577											OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000368172.1																			3	Substitution - Missense(3)	p.T233R(2)|p.T69R(1)	kidney(3)	NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38						c.(91-93)aCg>aTg		kin of IRRE like (Drosophila)							80.0	63.0	69.0					1																	158057581		2203	4300	6503	SO:0001583	missense	55243					integral to membrane		g.chr1:158057581C>T	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.698C>T	1.37:g.158057581C>T	ENSP00000352138:p.Thr233Met		OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1790	KIRREL_ENST00000392272.2_Missense_Mutation_p.T130M|KIRREL_ENST00000416935.2_Missense_Mutation_p.T133M|KIRREL_ENST00000359209.6_Missense_Mutation_p.T233M|KIRREL_ENST00000360089.4_Missense_Mutation_p.T69M|KIRREL_ENST00000368173.3_Missense_Mutation_p.T233M	p.T31M			Q96J84	KIRR1_HUMAN			2	104	+	all_hematologic(112;0.0378)		233			Ig-like C2-type 1.		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	c.92C>T	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021551	0.93462	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.13538	2.58;2.58;2.58;2.58;2.58;2.58	5.62	5.62	0.85841	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.44483	D	0.000444	T	0.34890	0.0913	M	0.85630	2.765	0.58432	D	0.999994	D;D;D;D	0.89917	0.994;0.997;1.0;1.0	D;D;D;D	0.73708	0.948;0.981;0.971;0.971	T	0.15321	-1.0441	10	0.56958	D	0.05	-15.1113	17.1484	0.86772	0.0:1.0:0.0:0.0	.	133;69;31;233	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	M	69;233;130;233;133;31	ENSP00000353202:T69M;ENSP00000357155:T233M;ENSP00000376098:T130M;ENSP00000352138:T233M;ENSP00000389674:T133M;ENSP00000357154:T31M	ENSP00000352138:T233M	T	+	2	0	KIRREL	156324205	1.000000	0.71417	0.987000	0.45799	0.993000	0.82548	7.335000	0.79234	2.644000	0.89710	0.563000	0.77884	ACG		0.577	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		6	5	0	0	0	1	0	6	5				
MMP9	4318	broad.mit.edu	37	20	44642001	44642001	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr20:44642001C>T	ENST00000372330.3	+	9	1457	c.1438C>T	c.(1438-1440)Cgc>Tgc	p.R480C	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	480					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	CCCCTCAGAGCgccccacagc	0.706											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372330.3																			0				breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46						c.(1438-1440)Cgc>Tgc		matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						24.0	32.0	29.0					20																	44642001		2198	4291	6489	SO:0001583	missense	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44642001C>T		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.1438C>T	20.37:g.44642001C>T	ENSP00000361405:p.Arg480Cys		OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	925		p.R480C	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN			9	1457	+		Myeloproliferative disorder(115;0.0122)	480					B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	ENST00000372330.3	37	c.1438C>T	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.391240	0.42410	.	.	ENSG00000100985	ENST00000372330	T	0.20881	2.04	4.56	-3.24	0.05094	.	2.464840	0.02096	N	0.053549	T	0.14227	0.0344	N	0.08118	0	0.09310	N	1	P	0.50710	0.938	P	0.45946	0.498	T	0.19976	-1.0289	10	0.37606	T	0.19	.	9.7053	0.40211	0.3416:0.1871:0.4713:0.0	.	480	P14780	MMP9_HUMAN	C	480	ENSP00000361405:R480C	ENSP00000361405:R480C	R	+	1	0	MMP9	44075408	0.000000	0.05858	0.000000	0.03702	0.550000	0.35303	-0.077000	0.11394	-0.833000	0.04245	0.655000	0.94253	CGC		0.706	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			20	30	0	0	0	1	0	20	30				
SLCO4C1	353189	broad.mit.edu	37	5	101585438	101585438	+	Silent	SNP	C	C	T	rs373573471		TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr5:101585438C>T	ENST00000310954.6	-	9	1810	c.1524G>A	c.(1522-1524)tcG>tcA	p.S508S		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AATATGATCGCGAACAGTTAC	0.408																																						ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(1522-1524)tcG>tcA		solute carrier organic anion transporter family, member 4C1		C		0,4406		0,0,2203	102.0	100.0	101.0		1524	2.6	0.4	5		101	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	SLCO4C1	NM_180991.4		0,4,6499	TT,TC,CC		0.0465,0.0,0.0308		508/725	101585438	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101585438C>T	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1524G>A	5.37:g.101585438C>T							p.S508S	NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	9	1810	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	508			Kazal-like.			Silent	SNP	ENST00000310954.6	37	c.1524G>A	CCDS34205.1																																																																																				0.408	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		18	41	0	0	0	1	0	18	41				
SLC9A5	6553	broad.mit.edu	37	16	67289815	67289815	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr16:67289815C>T	ENST00000299798.11	+	5	958	c.893C>T	c.(892-894)tCg>tTg	p.S298L	SLC9A5_ENST00000561472.2_3'UTR	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	298					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GAAATGGCCTCGCTCTCCGCC	0.627																																						ENST00000299798.11																			0				breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(892-894)tCg>tTg		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5							33.0	34.0	34.0					16																	67289815		2154	4265	6419	SO:0001583	missense	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67289815C>T		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.893C>T	16.37:g.67289815C>T	ENSP00000299798:p.Ser298Leu					SLC9A5_ENST00000561472.2_3'UTR	p.S298L	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	5	958	+		Ovarian(137;0.0563)	298					A5PKY7|Q9Y626	Missense_Mutation	SNP	ENST00000299798.11	37	c.893C>T	CCDS42178.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.713905	0.68730	.	.	ENSG00000135740	ENST00000299798	T	0.15834	2.39	5.83	4.87	0.63330	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.34774	0.0909	L	0.61218	1.895	0.47949	D	0.999553	D	0.67145	0.996	P	0.58331	0.837	T	0.09773	-1.0659	10	0.54805	T	0.06	.	15.4387	0.75165	0.1399:0.8601:0.0:0.0	.	298	Q14940	SL9A5_HUMAN	L	298	ENSP00000299798:S298L	ENSP00000299798:S298L	S	+	2	0	SLC9A5	65847316	1.000000	0.71417	0.890000	0.34922	0.970000	0.65996	4.865000	0.62998	1.471000	0.48121	0.650000	0.86243	TCG		0.627	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			26	35	0	0	0	1	0	26	35				
C10orf71	118461	broad.mit.edu	37	10	50531251	50531251	+	Missense_Mutation	SNP	T	T	A			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr10:50531251T>A	ENST00000374144.3	+	3	949	c.661T>A	c.(661-663)Tcc>Acc	p.S221T	C10orf71_ENST00000323868.4_Missense_Mutation_p.S221T			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	221										endometrium(1)	1						AGAACAGGAGTCCTCCAAGAA	0.557																																						ENST00000374144.3																			0				endometrium(1)	1						c.(661-663)Tcc>Acc		chromosome 10 open reading frame 71							33.0	36.0	35.0					10																	50531251		2021	4170	6191	SO:0001583	missense	118461							g.chr10:50531251T>A	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.661T>A	10.37:g.50531251T>A	ENSP00000363259:p.Ser221Thr					C10orf71_ENST00000323868.4_Missense_Mutation_p.S221T	p.S221T			Q711Q0	CJ071_HUMAN			3	949	+			221					A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	c.661T>A	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	T	11.93	1.786903	0.31593	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.16743	2.32;3.43	5.4	-4.33	0.03677	.	0.633204	0.13979	N	0.349595	T	0.08268	0.0206	L	0.35854	1.095	0.09310	N	1	B	0.20052	0.041	B	0.17433	0.018	T	0.35798	-0.9774	10	0.18276	T	0.48	.	1.3843	0.02236	0.4686:0.1299:0.1916:0.2099	.	221	Q711Q0-3	.	T	221	ENSP00000318713:S221T;ENSP00000363259:S221T	ENSP00000318713:S221T	S	+	1	0	C10orf71	50201257	0.010000	0.17322	0.273000	0.24645	0.899000	0.52679	-0.551000	0.06027	-1.147000	0.02851	0.459000	0.35465	TCC		0.557	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		14	20	0	0	0	1	0	14	20				
KLRF1	51348	broad.mit.edu	37	12	9997023	9997023	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr12:9997023C>A	ENST00000279544.3	+	6	661	c.597C>A	c.(595-597)ttC>ttA	p.F199L	KLRF1_ENST00000324214.4_Missense_Mutation_p.F149L|KLRF1_ENST00000537723.1_Nonsense_Mutation_p.S114*|KLRF1_ENST00000354855.3_Nonsense_Mutation_p.S64*	NM_016523.1	NP_057607	Q9NZS2	KLRF1_HUMAN	killer cell lectin-like receptor subfamily F, member 1	199	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|MHC class I receptor activity (GO:0032393)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						CTAGATTCTTCATAAAGGGAC	0.343																																						ENST00000354855.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						c.(190-192)tCa>tAa		killer cell lectin-like receptor subfamily F, member 1							61.0	60.0	60.0					12																	9997023		1811	4067	5878	SO:0001583	missense	51348				cell surface receptor linked signaling pathway	integral to plasma membrane	MHC class I receptor activity|sugar binding	g.chr12:9997023C>A	AF175206	CCDS41750.1	12p13.31	2011-08-30			ENSG00000150045	ENSG00000150045		"""Killer cell lectin-like receptors"", ""C-type lectin domain containing"""	13342	protein-coding gene	gene with protein product		605029				10671213	Standard	NM_001291823		Approved	CLEC5C, NKp80	uc021qux.1	Q9NZS2		ENST00000279544.3:c.597C>A	12.37:g.9997023C>A	ENSP00000279544:p.Phe199Leu					KLRF1_ENST00000324214.4_Missense_Mutation_p.F149L|KLRF1_ENST00000279544.3_Missense_Mutation_p.F199L|KLRF1_ENST00000537723.1_Nonsense_Mutation_p.S114*	p.S64*			Q9NZS2	KLRF1_HUMAN			3	255	+			0					Q4KMT5|Q96PR2|Q96PR3|Q9NZS1	Nonsense_Mutation	SNP	ENST00000279544.3	37	c.191C>A	CCDS41750.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.27|10.27	1.304295|1.304295	0.23736|0.23736	.|.	.|.	ENSG00000150045|ENSG00000150045	ENST00000324214;ENST00000279544|ENST00000354855;ENST00000537723	T;T|.	0.18174|.	2.23;2.23|.	2.51|2.51	-0.352|-0.352	0.12598|0.12598	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);|.	.|.	.|.	.|.	.|.	T|.	0.20495|.	0.0493|.	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B|.	0.06786|.	0.0;0.001|.	B;B|.	0.06405|.	0.002;0.001|.	T|.	0.27839|.	-1.0062|.	8|.	.|.	.|.	.|.	.|.	4.9614|4.9614	0.14068|0.14068	0.0:0.53:0.0:0.47|0.0:0.53:0.0:0.47	.|.	199;149|.	Q9NZS2;Q9NZS2-2|.	KLRF1_HUMAN;.|.	L|X	149;199|64;114	ENSP00000322487:F149L;ENSP00000279544:F199L|.	.|.	F|S	+|+	3|2	2|0	KLRF1|KLRF1	9888290|9888290	0.010000|0.010000	0.17322|0.17322	0.064000|0.064000	0.19789|0.19789	0.123000|0.123000	0.20343|0.20343	-0.292000|-0.292000	0.08332|0.08332	-0.091000|-0.091000	0.12440|0.12440	-0.259000|-0.259000	0.10710|0.10710	TTC|TCA		0.343	KLRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399535.1	NM_016523		9	33	1	0	2.62144e-13	1	2.78528e-13	9	33				
AHRR	57491	broad.mit.edu	37	5	422959	422959	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr5:422959C>T	ENST00000505113.1	+	6	613	c.569C>T	c.(568-570)cCg>cTg	p.P190L	AHRR_ENST00000512529.1_Missense_Mutation_p.P36L|AHRR_ENST00000506456.1_Missense_Mutation_p.P46L|AHRR_ENST00000316418.5_Missense_Mutation_p.P190L	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	190					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GGGCAGCCCCCGCCCTTGGAG	0.592																																						ENST00000316418.5																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(568-570)cCg>cTg		aryl-hydrocarbon receptor repressor							41.0	48.0	45.0					5																	422959		2019	4174	6193	SO:0001583	missense	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:422959C>T	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.569C>T	5.37:g.422959C>T	ENSP00000424601:p.Pro190Leu					AHRR_ENST00000505113.1_Missense_Mutation_p.P190L|AHRR_ENST00000506456.1_Missense_Mutation_p.P46L|AHRR_ENST00000512529.1_Missense_Mutation_p.P36L	p.P190L	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		6	613	+			190					A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	ENST00000505113.1	37	c.569C>T	CCDS56355.1	.	.	.	.	.	.	.	.	.	.	C	2.900	-0.227640	0.06022	.	.	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456	T;T;T;T	0.21191	2.35;2.35;2.02;2.02	4.9	-2.99	0.05497	.	1.110750	0.06604	N	0.754338	T	0.07279	0.0184	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.14438	0.003;0.005;0.01	B;B;B	0.09377	0.002;0.001;0.004	T	0.35351	-0.9792	10	0.27785	T	0.31	.	5.7609	0.18199	0.1334:0.3021:0.0:0.5645	.	46;190;190	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	L	190;190;36;46	ENSP00000424601:P190L;ENSP00000323816:P190L;ENSP00000424880:P36L;ENSP00000426932:P46L	ENSP00000323816:P190L	P	+	2	0	AHRR	475959	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.135000	0.15952	-0.469000	0.06911	-0.140000	0.14226	CCG		0.592	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		11	27	0	0	0	1	0	11	27				
HIST1H2AE	3012	broad.mit.edu	37	6	26217409	26217409	+	Missense_Mutation	SNP	C	C	G			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr6:26217409C>G	ENST00000303910.2	+	1	245	c.207C>G	c.(205-207)aaC>aaG	p.N69K	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	69						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				TAGCTGGCAACGCGGCTCGCG	0.597																																						ENST00000303910.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10						c.(205-207)aaC>aaG		histone cluster 1, H2ae							61.0	62.0	61.0					6																	26217409		2203	4300	6503	SO:0001583	missense	3012				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26217409C>G	M60752	CCDS4595.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000168274	ENSG00000277075		"""Histones / Replication-dependent"""	4724	protein-coding gene	gene with protein product		602786	"""H2A histone family, member A"", ""histone 1, H2ae"""	H2AFA		9119399, 1916825, 12408966	Standard	NM_021052		Approved	H2A/a, H2A.1	uc003nha.1	P04908	OTTHUMG00000014440	ENST00000303910.2:c.207C>G	6.37:g.26217409C>G	ENSP00000303373:p.Asn69Lys						p.N69K	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN			1	245	+		all_hematologic(11;0.196)	69					P28001|Q76P63	Missense_Mutation	SNP	ENST00000303910.2	37	c.207C>G	CCDS4595.1	.	.	.	.	.	.	.	.	.	.	.	13.45	2.240609	0.39598	.	.	ENSG00000168274	ENST00000303910	T	0.68624	-0.34	4.07	3.2	0.36748	.	0.000000	0.36740	U	0.002429	T	0.78266	0.4256	M	0.92317	3.295	0.44531	D	0.997487	.	.	.	.	.	.	T	0.82942	-0.0207	8	0.87932	D	0	.	11.2364	0.48942	0.0:0.909:0.0:0.091	.	.	.	.	K	69	ENSP00000303373:N69K	ENSP00000303373:N69K	N	+	3	2	HIST1H2AE	26325388	1.000000	0.71417	1.000000	0.80357	0.530000	0.34684	3.055000	0.49916	1.056000	0.40484	0.650000	0.86243	AAC		0.597	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040103.1	NM_021052		20	43	0	0	0	1	0	20	43				
OR2M2	391194	broad.mit.edu	37	1	248343652	248343652	+	Missense_Mutation	SNP	G	G	A	rs142698993		TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr1:248343652G>A	ENST00000359682.2	+	1	365	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R122H(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCTTATGACCGCTATATTGCT	0.403													g|||	1	0.000199681	0.0	0.0	5008	,	,		19986	0.0		0.0	False		,,,				2504	0.001					ENST00000359682.2																			1	Substitution - Missense(1)	p.R122H(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70						c.(364-366)cGc>cAc		olfactory receptor, family 2, subfamily M, member 2		G	HIS/ARG	0,4406		0,0,2203	201.0	212.0	208.0		365	0.9	0.0	1	dbSNP_134	208	2,8598	2.2+/-6.3	0,2,4298	yes	missense	OR2M2	NM_001004688.1	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	122/348	248343652	2,13004	2203	4300	6503	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343652G>A	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.365G>A	1.37:g.248343652G>A	ENSP00000352710:p.Arg122His						p.R122H	NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	365	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		122					A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.365G>A	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	g	11.34	1.609100	0.28623	0.0	2.33E-4	ENSG00000198601	ENST00000359682	T	0.77489	-1.1	1.88	0.91	0.19337	GPCR, rhodopsin-like superfamily (1);	0.274743	0.19399	U	0.115229	T	0.78175	0.4242	M	0.91300	3.195	0.22142	N	0.999332	B	0.28291	0.206	B	0.21546	0.035	T	0.71076	-0.4697	10	0.62326	D	0.03	.	8.1932	0.31381	0.1337:0.0:0.8663:0.0	.	122	Q96R28	OR2M2_HUMAN	H	122	ENSP00000352710:R122H	ENSP00000352710:R122H	R	+	2	0	OR2M2	246410275	0.976000	0.34144	0.000000	0.03702	0.000000	0.00434	5.220000	0.65267	0.142000	0.18901	-0.391000	0.06502	CGC		0.403	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		103	150	0	0	0	1	0	103	150				
MUC16	94025	broad.mit.edu	37	19	9075658	9075658	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr19:9075658C>T	ENST00000397910.4	-	3	11991	c.11788G>A	c.(11788-11790)Gag>Aag	p.E3930K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3931	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCAATTCTCTCATATGGGCTG	0.493																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(11788-11790)Gag>Aag		mucin 16, cell surface associated							69.0	65.0	66.0					19																	9075658		1930	4115	6045	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9075658C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.11788G>A	19.37:g.9075658C>T	ENSP00000381008:p.Glu3930Lys						p.E3930K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	11991	-			3931			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.11788G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	7.845	0.722793	0.15439	.	.	ENSG00000181143	ENST00000397910	T	0.29142	1.58	1.98	1.98	0.26296	.	.	.	.	.	T	0.24736	0.0600	N	0.08118	0	.	.	.	P	0.52061	0.95	P	0.54965	0.765	T	0.28586	-1.0039	8	0.87932	D	0	.	7.4693	0.27340	0.0:1.0:0.0:0.0	.	3930	B5ME49	.	K	3930	ENSP00000381008:E3930K	ENSP00000381008:E3930K	E	-	1	0	MUC16	8936658	0.000000	0.05858	0.002000	0.10522	0.056000	0.15407	0.216000	0.17585	1.413000	0.46997	0.313000	0.20887	GAG		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		13	14	0	0	0	1	0	13	14				
NFE2L3	9603	broad.mit.edu	37	7	26225102	26225102	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr7:26225102G>A	ENST00000056233.3	+	4	2043	c.1784G>A	c.(1783-1785)tGt>tAt	p.C595Y		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	595	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.C595Y(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GCGCAGAACTGTCGTAAACGC	0.368																																						ENST00000056233.3																			1	Substitution - Missense(1)	p.C595Y(1)	kidney(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						c.(1783-1785)tGt>tAt		nuclear factor, erythroid 2-like 3							61.0	58.0	59.0					7																	26225102		2203	4299	6502	SO:0001583	missense	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26225102G>A	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1784G>A	7.37:g.26225102G>A	ENSP00000056233:p.Cys595Tyr						p.C595Y	NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN			4	2043	+			595					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	ENST00000056233.3	37	c.1784G>A	CCDS5396.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483904	0.84854	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	D	0.92858	-3.12	5.71	5.71	0.89125	Basic-leucine zipper (bZIP) transcription factor (3);Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	D	0.97213	0.9089	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97705	1.0187	10	0.87932	D	0	-5.5783	19.4639	0.94931	0.0:0.0:1.0:0.0	.	595	Q9Y4A8	NF2L3_HUMAN	Y	595;300	ENSP00000056233:C595Y	ENSP00000056233:C595Y	C	+	2	0	NFE2L3	26191627	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.984000	0.88150	2.703000	0.92315	0.591000	0.81541	TGT		0.368	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			4	68	0	0	0	1	0	4	68				
SH2D3C	10044	broad.mit.edu	37	9	130511762	130511762	+	Silent	SNP	G	G	A			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr9:130511762G>A	ENST00000314830.8	-	5	980	c.867C>T	c.(865-867)agC>agT	p.S289S	SH2D3C_ENST00000373277.4_Silent_p.S132S|SH2D3C_ENST00000420366.1_Silent_p.S131S|SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000373274.3_Silent_p.S129S|SH2D3C_ENST00000429553.1_5'UTR|SH2D3C_ENST00000373276.3_Silent_p.S221S	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	289	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGTGGTCAAAGCTCTCCTGCT	0.597																																						ENST00000314830.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(865-867)agC>agT		SH2 domain containing 3C							105.0	88.0	94.0					9																	130511762		2203	4300	6503	SO:0001819	synonymous_variant	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130511762G>A	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.867C>T	9.37:g.130511762G>A						SH2D3C_ENST00000420366.1_Silent_p.S131S|SH2D3C_ENST00000429553.1_5'UTR|SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000373274.3_Silent_p.S129S|SH2D3C_ENST00000373276.3_Silent_p.S221S|SH2D3C_ENST00000373277.4_Silent_p.S132S	p.S289S	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN			5	980	-			289			SH2.		A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Silent	SNP	ENST00000314830.8	37	c.867C>T	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	G	9.958	1.221961	0.22457	.	.	ENSG00000095370	ENST00000440630	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	T	0.75034	0.3795	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72789	-0.4187	4	.	.	.	-0.3295	18.7488	0.91806	0.0:0.0:1.0:0.0	.	.	.	.	V	126	.	.	A	-	2	0	SH2D3C	129551583	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.409000	0.44583	2.686000	0.91538	0.561000	0.74099	GCT		0.597	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		17	17	0	0	0	1	0	17	17				
UHRF1BP1L	23074	broad.mit.edu	37	12	100492187	100492187	+	Silent	SNP	T	T	C			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr12:100492187T>C	ENST00000279907.7	-	5	683	c.471A>G	c.(469-471)gcA>gcG	p.A157A	UHRF1BP1L_ENST00000356828.3_Silent_p.A157A	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	157										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTTCCCAGTGTGCATTTACAC	0.348																																						ENST00000279907.7																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(469-471)gcA>gcG		UHRF1 binding protein 1-like							112.0	108.0	109.0					12																	100492187		2203	4300	6503	SO:0001819	synonymous_variant	23074							g.chr12:100492187T>C		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.471A>G	12.37:g.100492187T>C						UHRF1BP1L_ENST00000356828.3_Silent_p.A157A	p.A157A	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN			5	683	-			157					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Silent	SNP	ENST00000279907.7	37	c.471A>G	CCDS31882.1																																																																																				0.348	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		30	51	0	0	0	1	0	30	51				
BAGE2	85319	broad.mit.edu	37	21	11058322	11058322	+	RNA	SNP	C	C	T			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr21:11058322C>T	ENST00000470054.1	-	0	325							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATGCACATCGCTGAAAGGG	0.383																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							92.0	70.0	77.0					21																	11058322		692	1591	2283			85319							g.chr21:11058322C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058322C>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	325	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.383	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		11	176	0	0	0	1	0	11	176				
MMP9	4318	broad.mit.edu	37	20	44639815	44639815	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr20:44639815C>T	ENST00000372330.3	+	5	702	c.683C>T	c.(682-684)gCg>gTg	p.A228V	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	228	Fibronectin type-II 1. {ECO:0000255|PROSITE-ProRule:PRU00479}.				collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	GCAGATGGCGCGGCCTGCCAC	0.637																																						ENST00000372330.3																			0				breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46						c.(682-684)gCg>gTg		matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						94.0	105.0	102.0					20																	44639815		2203	4300	6503	SO:0001583	missense	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44639815C>T		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.683C>T	20.37:g.44639815C>T	ENSP00000361405:p.Ala228Val						p.A228V	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN			5	702	+		Myeloproliferative disorder(115;0.0122)	228			Fibronectin type-II 1.		B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	ENST00000372330.3	37	c.683C>T	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634706	0.87660	.	.	ENSG00000100985	ENST00000372330	T	0.10288	2.89	4.56	4.56	0.56223	Peptidase M10, metallopeptidase (1);Fibronectin, type II, collagen-binding (3);Kringle-like fold (1);Peptidase, metallopeptidase (1);	0.103114	0.64402	D	0.000002	T	0.26702	0.0653	M	0.78801	2.425	0.80722	D	1	D	0.62365	0.991	P	0.54238	0.746	T	0.02610	-1.1134	10	0.31617	T	0.26	.	16.8574	0.86009	0.0:1.0:0.0:0.0	.	228	P14780	MMP9_HUMAN	V	228	ENSP00000361405:A228V	ENSP00000361405:A228V	A	+	2	0	MMP9	44073222	0.990000	0.36364	0.990000	0.47175	0.975000	0.68041	2.966000	0.49208	2.514000	0.84764	0.650000	0.86243	GCG		0.637	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			104	120	0	0	0	1	0	104	120				
RAG2	5897	broad.mit.edu	37	11	36615350	36615350	+	Silent	SNP	G	G	T	rs369277180		TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr11:36615350G>T	ENST00000311485.3	-	2	530	c.369C>A	c.(367-369)cgC>cgA	p.R123R	RAG2_ENST00000528428.1_5'Flank|C11orf74_ENST00000534635.1_5'Flank|C11orf74_ENST00000446510.2_5'Flank|C11orf74_ENST00000334307.5_5'Flank|C11orf74_ENST00000347206.4_5'Flank	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	123					B cell differentiation (GO:0030183)|chromatin modification (GO:0016568)|pre-B cell allelic exclusion (GO:0002331)|T cell differentiation in thymus (GO:0033077)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TCTCTGTGCAGCGAAAAGTAA	0.398									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000311485.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32						c.(367-369)cgC>cgA		recombination activating gene 2							152.0	146.0	148.0					11																	36615350		2202	4298	6500	SO:0001819	synonymous_variant	5897	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding	g.chr11:36615350G>T	AF080577	CCDS7903.1	11p13	2014-09-17				ENSG00000175097			9832	protein-coding gene	gene with protein product		179616				1283330	Standard	NM_000536		Approved		uc001mwv.4	P55895		ENST00000311485.3:c.369C>A	11.37:g.36615350G>T							p.R123R	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN			2	530	-	all_lung(20;0.226)	all_hematologic(20;0.00756)	123					A8K9E9|Q8TBL4	Silent	SNP	ENST00000311485.3	37	c.369C>A	CCDS7903.1																																																																																				0.398	RAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389536.1	NM_000536		36	83	1	0	9.8876e-21	1	1.09623e-20	36	83				
AMBRA1	55626	broad.mit.edu	37	11	46569885	46569885	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr11:46569885G>A	ENST00000458649.2	-	2	464	c.46C>T	c.(46-48)Cga>Tga	p.R16*	AMBRA1_ENST00000534300.1_Nonsense_Mutation_p.R16*|AMBRA1_ENST00000528950.1_Nonsense_Mutation_p.R16*|AMBRA1_ENST00000298834.3_Nonsense_Mutation_p.R16*|AMBRA1_ENST00000533727.1_Nonsense_Mutation_p.R16*|AMBRA1_ENST00000426438.1_Nonsense_Mutation_p.R16*|AMBRA1_ENST00000314845.3_Nonsense_Mutation_p.R16*			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	16					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CCCCGTTCTCGCCCCCAGAGT	0.552																																						ENST00000458649.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39						c.(46-48)Cga>Tga		autophagy/beclin-1 regulator 1							142.0	154.0	150.0					11																	46569885		2201	4299	6500	SO:0001587	stop_gained	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46569885G>A	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.46C>T	11.37:g.46569885G>A	ENSP00000415327:p.Arg16*					AMBRA1_ENST00000534300.1_Nonsense_Mutation_p.R16*|AMBRA1_ENST00000314845.3_Nonsense_Mutation_p.R16*|AMBRA1_ENST00000298834.3_Nonsense_Mutation_p.R16*|AMBRA1_ENST00000533727.1_Nonsense_Mutation_p.R16*|AMBRA1_ENST00000528950.1_Nonsense_Mutation_p.R16*|AMBRA1_ENST00000426438.1_Nonsense_Mutation_p.R16*	p.R16*			Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	2	464	-			16					A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Nonsense_Mutation	SNP	ENST00000458649.2	37	c.46C>T		.	.	.	.	.	.	.	.	.	.	G	36	5.773308	0.96922	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000314823;ENST00000458649;ENST00000528950;ENST00000526606	.	.	.	5.94	5.02	0.67125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0443	0.71816	0.0:0.0:0.7283:0.2717	.	.	.	.	X	16	.	ENSP00000298834:R16X	R	-	1	2	AMBRA1	46526461	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.777000	0.62361	1.495000	0.48549	0.591000	0.81541	CGA		0.552	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		87	51	0	0	0	1	0	87	51				
MYH7	4625	broad.mit.edu	37	14	23888493	23888493	+	Missense_Mutation	SNP	G	G	A	rs180824037		TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr14:23888493G>A	ENST00000355349.3	-	29	4027	c.3865C>T	c.(3865-3867)Cgg>Tgg	p.R1289W	MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1289					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCCAGCTGCCGGGACAGCTCA	0.597																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(3865-3867)Cgg>Tgg		myosin, heavy chain 7, cardiac muscle, beta							86.0	84.0	84.0					14																	23888493		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23888493G>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.3865C>T	14.37:g.23888493G>A	ENSP00000347507:p.Arg1289Trp						p.R1289W	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	29	4027	-	all_cancers(95;2.54e-05)		1289					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.3865C>T	CCDS9601.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	16.90	3.249437	0.59103	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.81659	-1.52	4.99	2.03	0.26663	Myosin tail (1);	.	.	.	.	D	0.92355	0.7574	H	0.96430	3.82	0.38665	D	0.952172	D	0.89917	1.0	D	0.97110	1.0	D	0.94313	0.7547	9	0.87932	D	0	.	14.718	0.69284	0.0:0.0:0.5128:0.4872	.	1289	P12883	MYH7_HUMAN	W	1289;1294	ENSP00000347507:R1289W	ENSP00000347507:R1289W	R	-	1	2	MYH7	22958333	0.007000	0.16637	0.830000	0.32933	0.993000	0.82548	0.002000	0.13061	0.239000	0.21243	0.655000	0.94253	CGG		0.597	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		17	26	0	0	0	1	0	17	26				
ATIC	471	broad.mit.edu	37	2	216198161	216198161	+	Silent	SNP	G	G	C	rs372300174		TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr2:216198161G>C	ENST00000236959.9	+	9	1229	c.903G>C	c.(901-903)gcG>gcC	p.A301A	ATIC_ENST00000540518.1_Silent_p.A242A|ATIC_ENST00000435675.1_Silent_p.A300A	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	301					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	CCATCTCAGCGGCATATGCAA	0.403			T	ALK	ALCL																																	ENST00000435675.1				Dom	yes		2	2q35	471	T	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase			L	ALK		ALCL	ATIC/ALK(24)	0				large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(898-900)gcG>gcC		5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	Tetrahydrofolic acid(DB00116)						90.0	86.0	88.0					2																	216198161		2203	4300	6503	SO:0001819	synonymous_variant	471				IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity	g.chr2:216198161G>C		CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"""phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"""	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.903G>C	2.37:g.216198161G>C						ATIC_ENST00000236959.9_Silent_p.A301A|ATIC_ENST00000540518.1_Silent_p.A242A	p.A300A			P31939	PUR9_HUMAN		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	8	1291	+		Renal(323;0.229)	301					A8K202|E9PBU3|Q13856|Q53S28	Silent	SNP	ENST00000236959.9	37	c.900G>C	CCDS2398.1																																																																																				0.403	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	NM_004044		19	41	0	0	0	1	0	19	41				
CD97	976	broad.mit.edu	37	19	14507991	14507991	+	Missense_Mutation	SNP	C	C	T	rs367579729		TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr19:14507991C>T	ENST00000242786.5	+	6	661	c.581C>T	c.(580-582)cCg>cTg	p.P194L	CD97_ENST00000587728.1_Intron|CD97_ENST00000357355.3_Intron|CD97_ENST00000358600.3_Intron	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	194	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GGCTGGCAACCGATTCCGGGG	0.582																																						ENST00000242786.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(580-582)cCg>cTg		CD97 molecule		C	,,LEU/PRO	0,4406		0,0,2203	93.0	96.0	95.0		,,581	3.5	0.1	19		95	1,8593	1.2+/-3.3	0,1,4296	no	intron,intron,missense	CD97	NM_001025160.2,NM_001784.4,NM_078481.3	,,98	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	,,probably-damaging	,,194/836	14507991	1,12999	2203	4297	6500	SO:0001583	missense	976				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr19:14507991C>T		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.581C>T	19.37:g.14507991C>T	ENSP00000242786:p.Pro194Leu					CD97_ENST00000587728.1_Intron|CD97_ENST00000357355.3_Intron|CD97_ENST00000358600.3_Intron	p.P194L	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN			6	661	+			194			EGF-like 4; calcium-binding (Potential).		A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	ENST00000242786.5	37	c.581C>T	CCDS32929.1	.	.	.	.	.	.	.	.	.	.	c	14.16	2.451602	0.43531	0.0	1.16E-4	ENSG00000123146	ENST00000242786	D	0.85556	-2.0	3.53	3.53	0.40419	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.81884	0.4917	N	0.12746	0.255	0.26514	N	0.974557	D	0.76494	0.999	P	0.61003	0.882	T	0.71659	-0.4526	9	0.33141	T	0.24	.	10.8838	0.46955	0.0:1.0:0.0:0.0	.	194	P48960	CD97_HUMAN	L	194	ENSP00000242786:P194L	ENSP00000242786:P194L	P	+	2	0	CD97	14368991	0.502000	0.26107	0.099000	0.21106	0.012000	0.07955	2.426000	0.44731	2.271000	0.75665	0.556000	0.70494	CCG		0.582	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		43	73	0	0	0	1	0	43	73				
EPHB1	2047	broad.mit.edu	37	3	134920345	134920345	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr3:134920345G>T	ENST00000398015.3	+	12	2530	c.2160G>T	c.(2158-2160)caG>caT	p.Q720H	EPHB1_ENST00000493838.1_Missense_Mutation_p.Q281H	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	720	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CCGTGATCCAGCTTGTGGGTA	0.507																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(2158-2160)caG>caT		EPH receptor B1							218.0	216.0	217.0					3																	134920345		2203	4300	6503	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134920345G>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2160G>T	3.37:g.134920345G>T	ENSP00000381097:p.Gln720His					EPHB1_ENST00000493838.1_Missense_Mutation_p.Q281H	p.Q720H	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			12	2530	+			720			Protein kinase.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.2160G>T	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325752	0.81580	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	D;D	0.83163	-1.69;-1.69	5.52	4.42	0.53409	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.065752	0.64402	D	0.000005	D	0.88093	0.6344	L	0.54863	1.705	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.88406	0.3018	10	0.87932	D	0	.	12.7953	0.57556	0.1134:0.0:0.8866:0.0	.	720	P54762	EPHB1_HUMAN	H	720;281	ENSP00000381097:Q720H;ENSP00000419574:Q281H	ENSP00000381097:Q720H	Q	+	3	2	EPHB1	136403035	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.086000	0.57664	2.755000	0.94549	0.563000	0.77884	CAG		0.507	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		9	194	1	0	0.00621372	1	0.00621372	9	194				
LOC101926911	101926911	broad.mit.edu	37	15	91575735	91575735	+	RNA	SNP	C	C	T			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr15:91575735C>T	ENST00000557804.1	+	0	443				AC068831.10_ENST00000556904.1_RNA|AC068831.10_ENST00000501381.3_RNA																							CCAGAGGGGTCCTCGGACAAC	0.632																																						ENST00000557804.1																			0																																																			0							g.chr15:91575735C>T																													15.37:g.91575735C>T														0	443	+									RNA	SNP	ENST00000557804.1	37																																																																																						0.632	AC068831.10-004	KNOWN	basic	antisense	antisense	OTTHUMT00000418639.1			4	6	0	0	0	1	0	4	6				
TBX18	9096	broad.mit.edu	37	6	85466464	85466464	+	Silent	SNP	G	G	A			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr6:85466464G>A	ENST00000369663.5	-	4	1060	c.723C>T	c.(721-723)agC>agT	p.S241S	TBX18_ENST00000606521.1_5'UTR|TBX18_ENST00000606784.1_Silent_p.S83S	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	241					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GCTTGTCGAAGCTGATAACTT	0.527																																						ENST00000369663.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61						c.(721-723)agC>agT		T-box 18							164.0	118.0	133.0					6																	85466464		2203	4300	6503	SO:0001819	synonymous_variant	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85466464G>A	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.723C>T	6.37:g.85466464G>A						TBX18_ENST00000606784.1_Silent_p.S83S|TBX18_ENST00000606521.1_5'UTR	p.S241S	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	4	1060	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	241					A2RU13|Q7Z6U4|Q9UJI6	Silent	SNP	ENST00000369663.5	37	c.723C>T	CCDS34495.1																																																																																				0.527	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		21	12	0	0	0	1	0	21	12				
KDM6A	7403	broad.mit.edu	37	X	44949155	44949155	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chrX:44949155G>A	ENST00000377967.4	+	25	3757	c.3716G>A	c.(3715-3717)tGg>tAg	p.W1239*	KDM6A_ENST00000543216.1_Nonsense_Mutation_p.W1160*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.W1246*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.W1194*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1239	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AACATTGCTTGGAATGTTGGT	0.363			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		6	Whole gene deletion(6)	p.0?(6)	oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(3715-3717)tGg>tAg		lysine (K)-specific demethylase 6A							123.0	102.0	109.0					X																	44949155		2203	4300	6503	SO:0001587	stop_gained	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44949155G>A	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3716G>A	X.37:g.44949155G>A	ENSP00000367203:p.Trp1239*					KDM6A_ENST00000543216.1_Nonsense_Mutation_p.W1160*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.W1246*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.W1194*	p.W1239*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			25	3757	+			1239			JmjC.		Q52LL9|Q5JVQ7	Nonsense_Mutation	SNP	ENST00000377967.4	37	c.3716G>A	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	G	40	8.474892	0.98827	.	.	ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.7525	18.2517	0.90006	0.0:0.0:1.0:0.0	.	.	.	.	X	936;1239;1194;1246;1160	.	ENSP00000334340:W936X	W	+	2	0	KDM6A	44834099	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.358000	0.97109	2.249000	0.74217	0.468000	0.43344	TGG		0.363	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		14	5	0	0	0	1	0	14	5				
SPATA13	221178	broad.mit.edu	37	13	24864978	24864978	+	Silent	SNP	G	G	A			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr13:24864978G>A	ENST00000382095.4	+	8	1568	c.1161G>A	c.(1159-1161)ccG>ccA	p.P387P	SPATA13_ENST00000343003.6_Silent_p.P331P|SPATA13_ENST00000382108.3_Silent_p.P1012P|SPATA13_ENST00000399949.2_Silent_p.P309P|SPATA13_ENST00000424834.2_Silent_p.P1012P|RP11-307N16.6_ENST00000382141.4_Silent_p.P890P|SPATA13_ENST00000409126.1_Silent_p.P247P	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	387	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GCAAATACCCGCTGCAGCTGG	0.572																																						ENST00000424834.2																			0				breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23						c.(3034-3036)ccG>ccA		spermatogenesis associated 13							43.0	44.0	44.0					13																	24864978		2203	4300	6503	SO:0001819	synonymous_variant	221178				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity	g.chr13:24864978G>A	AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.1161G>A	13.37:g.24864978G>A						SPATA13_ENST00000399949.2_Silent_p.P309P|SPATA13_ENST00000409126.1_Silent_p.P247P|SPATA13_ENST00000382108.3_Silent_p.P1012P|SPATA13_ENST00000343003.6_Silent_p.P331P|SPATA13_ENST00000382095.4_Silent_p.P387P	p.P1012P			Q96N96	SPT13_HUMAN		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)	11	3509	+		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)	387					A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Silent	SNP	ENST00000382095.4	37	c.3036G>A	CCDS9305.1	.	.	.	.	.	.	.	.	.	.	G	9.418	1.082310	0.20309	.	.	ENSG00000182957	ENST00000424834	.	.	.	5.65	-11.3	0.00108	.	.	.	.	.	T	0.31071	0.0785	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40869	-0.9540	4	.	.	.	.	1.7514	0.02973	0.2478:0.139:0.3931:0.2201	.	.	.	.	T	1050	.	.	A	+	1	0	SPATA13	23762978	0.000000	0.05858	0.217000	0.23759	0.992000	0.81027	-5.048000	0.00156	-2.853000	0.00330	-0.228000	0.12330	GCT		0.572	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023		19	24	0	0	0	1	0	19	24				
RYR3	6263	broad.mit.edu	37	15	33945019	33945019	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr15:33945019G>A	ENST00000389232.4	+	32	4313	c.4243G>A	c.(4243-4245)Gtg>Atg	p.V1415M	RYR3_ENST00000415757.3_Missense_Mutation_p.V1415M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1415	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CGGCTGTCTCGTGGATCTGGC	0.562																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(4243-4245)Gtg>Atg		ryanodine receptor 3							108.0	111.0	110.0					15																	33945019		2038	4205	6243	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33945019G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.4243G>A	15.37:g.33945019G>A	ENSP00000373884:p.Val1415Met					RYR3_ENST00000415757.3_Missense_Mutation_p.V1415M	p.V1415M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	32	4313	+		all_lung(180;7.18e-09)	1415			4 X approximate repeats.|B30.2/SPRY 3.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.4243G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.898191	0.33535	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.62232	0.04;0.04	5.52	-0.23	0.13090	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.459800	0.22016	N	0.065793	T	0.48943	0.1528	L	0.55213	1.73	0.21445	N	0.999683	P;B	0.41265	0.744;0.332	B;B	0.39094	0.29;0.29	T	0.46965	-0.9153	10	0.87932	D	0	.	3.2353	0.06762	0.1175:0.1202:0.4144:0.3479	.	1415;1415	Q15413-2;Q15413	.;RYR3_HUMAN	M	1415	ENSP00000373884:V1415M;ENSP00000399610:V1415M	ENSP00000354735:V1415M	V	+	1	0	RYR3	31732311	0.750000	0.28316	0.275000	0.24674	0.870000	0.49936	1.219000	0.32479	0.088000	0.17205	-0.175000	0.13238	GTG		0.562	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			19	46	0	0	0	1	0	19	46				
GLB1L	79411	broad.mit.edu	37	2	220104982	220104982	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr2:220104982C>A	ENST00000295759.7	-	6	790	c.477G>T	c.(475-477)tgG>tgT	p.W159C	GLB1L_ENST00000392089.2_Missense_Mutation_p.W159C|GLB1L_ENST00000356283.3_Intron|GLB1L_ENST00000409640.1_Intron|GLB1L_ENST00000497855.1_5'Flank			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	159					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGACCTTGAACCAGGAGTCCA	0.488																																						ENST00000295759.7																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(475-477)tgG>tgT		galactosidase, beta 1-like							150.0	135.0	140.0					2																	220104982		2203	4300	6503	SO:0001583	missense	79411				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr2:220104982C>A		CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.477G>T	2.37:g.220104982C>A	ENSP00000295759:p.Trp159Cys					GLB1L_ENST00000356283.3_Intron|GLB1L_ENST00000392089.2_Missense_Mutation_p.W159C|GLB1L_ENST00000409640.1_Intron	p.W159C			Q6UWU2	GLB1L_HUMAN		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	790	-		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)	159					Q96DR0	Missense_Mutation	SNP	ENST00000295759.7	37	c.477G>T	CCDS2437.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.960121|3.960121	0.74016|0.74016	.|.	.|.	ENSG00000163521|ENSG00000163521	ENST00000440853|ENST00000295759;ENST00000392089	.|D;D	.|0.98400	.|-4.91;-4.91	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99426|0.99426	0.9797|0.9797	H|H	0.97564|0.97564	4.03|4.03	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.98376|0.98376	1.0556|1.0556	5|10	.|0.87932	.|D	.|0	-9.4216|-9.4216	19.7358|19.7358	0.96202|0.96202	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|159	.|Q6UWU2	.|GLB1L_HUMAN	V|C	92|159	.|ENSP00000295759:W159C;ENSP00000375939:W159C	.|ENSP00000295759:W159C	G|W	-|-	2|3	0|0	GLB1L|GLB1L	219813226|219813226	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.848000|0.848000	0.48234|0.48234	7.684000|7.684000	0.84104|0.84104	2.660000|2.660000	0.90430|0.90430	0.557000|0.557000	0.71058|0.71058	GGT|TGG		0.488	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	NM_024506		4	136	1	0	0.000602214	1	0.000614259	4	136				
PCDH7	5099	broad.mit.edu	37	4	30724481	30724481	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr4:30724481C>A	ENST00000361762.2	+	1	2445	c.1437C>A	c.(1435-1437)gaC>gaA	p.D479E	PCDH7_ENST00000543491.1_Missense_Mutation_p.D479E	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	479	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CCGAGGGCGACCAGAACAAGA	0.627																																						ENST00000361762.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(1435-1437)gaC>gaA		protocadherin 7							91.0	68.0	76.0					4																	30724481		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30724481C>A	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.1437C>A	4.37:g.30724481C>A	ENSP00000355243:p.Asp479Glu					PCDH7_ENST00000543491.1_Missense_Mutation_p.D479E	p.D479E	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN			1	2445	+			479			Cadherin 4.		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.1437C>A	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.733|1.733	-0.493566|-0.493566	0.04322|0.04322	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135|ENST00000511884	T;T|.	0.50001|.	0.78;0.76|.	5.16|5.16	3.42|3.42	0.39159|0.39159	Cadherin (4);Cadherin-like (1);|.	.|.	.|.	.|.	.|.	T|T	0.34716|0.34716	0.0907|0.0907	N|N	0.20685|0.20685	0.6|0.6	0.39705|0.39705	D|D	0.971245|0.971245	B;B;B|.	0.14438|.	0.002;0.01;0.002|.	B;B;B|.	0.19148|.	0.007;0.024;0.019|.	T|T	0.12293|0.12293	-1.0553|-1.0553	9|5	0.23891|.	T|.	0.37|.	.|.	3.1074|3.1074	0.06346|0.06346	0.1486:0.5611:0.1287:0.1615|0.1486:0.5611:0.1287:0.1615	.|.	479;432;479|.	F5GWJ1;O60245-3;O60245|.	.;.;PCDH7_HUMAN|.	E|T	479;479;432|169	ENSP00000355243:D479E;ENSP00000441802:D479E|.	ENSP00000330302:D432E|.	D|P	+|+	3|1	2|0	PCDH7|PCDH7	30333579|30333579	0.038000|0.038000	0.19896|0.19896	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	-0.683000|-0.683000	0.05179|0.05179	0.733000|0.733000	0.32492|0.32492	0.655000|0.655000	0.94253|0.94253	GAC|CCA		0.627	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		17	13	1	0	4.14922e-12	1	4.31857e-12	17	13				
THSD7A	221981	broad.mit.edu	37	7	11464354	11464354	+	Missense_Mutation	SNP	A	A	C			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr7:11464354A>C	ENST00000423059.4	-	16	3603	c.3352T>G	c.(3352-3354)Tgt>Ggt	p.C1118G	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1118	TSP type-1 11. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCCTCTCCACAGTTCTCCCGC	0.483										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(3352-3354)Tgt>Ggt		thrombospondin, type I, domain containing 7A							236.0	222.0	226.0					7																	11464354		1985	4173	6158	SO:0001583	missense	221981					integral to membrane		g.chr7:11464354A>C		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.3352T>G	7.37:g.11464354A>C	ENSP00000406482:p.Cys1118Gly	HNSCC(18;0.044)				AC004538.3_ENST00000445839.1_RNA	p.C1118G	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	16	3603	-			1118			TSP type-1 11.			Missense_Mutation	SNP	ENST00000423059.4	37	c.3352T>G	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.467969	0.84533	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.79247	-1.25	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.91446	0.7300	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93679	0.6997	10	0.87932	D	0	.	16.2303	0.82332	1.0:0.0:0.0:0.0	.	1118	Q9UPZ6	THS7A_HUMAN	G	1118	ENSP00000406482:C1118G	ENSP00000262042:C1118G	C	-	1	0	THSD7A	11430879	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.672000	0.91181	2.233000	0.73108	0.533000	0.62120	TGT		0.483	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		87	116	0	0	0	1	0	87	116				
RNF186	54546	broad.mit.edu	37	1	20141239	20141239	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr1:20141239C>A	ENST00000375121.2	-	1	532	c.356G>T	c.(355-357)tGt>tTt	p.C119F	RP11-91K11.2_ENST00000454736.1_RNA	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN	ring finger protein 186	119						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCTGAGGACAGAGCGATAC	0.652																																						ENST00000375121.2																			0				kidney(1)|lung(3)|urinary_tract(1)	5						c.(355-357)tGt>tTt		ring finger protein 186							51.0	61.0	57.0					1																	20141239		2203	4300	6503	SO:0001583	missense	54546					integral to membrane	zinc ion binding	g.chr1:20141239C>A		CCDS199.1	1p36.13	2008-02-05			ENSG00000178828	ENSG00000178828		"""RING-type (C3HC4) zinc fingers"""	25978	protein-coding gene	gene with protein product	"""hypothetical protein FLJ20225"""					12477932	Standard	NM_019062		Approved	FLJ20225	uc001bcr.3	Q9NXI6	OTTHUMG00000002709	ENST00000375121.2:c.356G>T	1.37:g.20141239C>A	ENSP00000364263:p.Cys119Phe					RP11-91K11.2_ENST00000454736.1_RNA	p.C119F	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	532	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	119					Q53GE0	Missense_Mutation	SNP	ENST00000375121.2	37	c.356G>T	CCDS199.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.516990	0.27123	.	.	ENSG00000178828	ENST00000375121	T	0.32515	1.45	5.71	2.68	0.31781	.	0.400573	0.21783	N	0.069163	T	0.43188	0.1236	M	0.65975	2.015	0.36506	D	0.869308	D	0.59767	0.986	P	0.51135	0.66	T	0.59979	-0.7352	10	0.59425	D	0.04	-1.9365	15.7036	0.77560	0.0:0.3549:0.6451:0.0	.	119	Q9NXI6	RN186_HUMAN	F	119	ENSP00000364263:C119F	ENSP00000364263:C119F	C	-	2	0	RNF186	20013826	1.000000	0.71417	0.998000	0.56505	0.008000	0.06430	1.972000	0.40540	0.735000	0.32537	-0.951000	0.02657	TGT		0.652	RNF186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007694.1	NM_019062		19	49	1	0	1.00905e-13	1	1.09492e-13	19	49				
OR2B11	127623	broad.mit.edu	37	1	247614682	247614682	+	Silent	SNP	G	G	A			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr1:247614682G>A	ENST00000318749.6	-	1	626	c.603C>T	c.(601-603)acC>acT	p.T201T		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	201						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CAGCCAGTATGGTGTCATTCA	0.567																																						ENST00000318749.6																			0				endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60						c.(601-603)acC>acT		olfactory receptor, family 2, subfamily B, member 11							62.0	64.0	63.0					1																	247614682		2203	4300	6503	SO:0001819	synonymous_variant	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247614682G>A		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.603C>T	1.37:g.247614682G>A							p.T201T	NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	626	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	201					B2RP03	Silent	SNP	ENST00000318749.6	37	c.603C>T	CCDS31090.1																																																																																				0.567	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		5	16	0	0	0	1	0	5	16				
ABHD12	26090	broad.mit.edu	37	20	25300846	25300846	+	Silent	SNP	G	G	A			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr20:25300846G>A	ENST00000339157.5	-	4	803	c.531C>T	c.(529-531)aaC>aaT	p.N177N	ABHD12_ENST00000376542.3_Silent_p.N177N	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12	177					adult walking behavior (GO:0007628)|phosphatidylserine catabolic process (GO:0006660)|response to auditory stimulus (GO:0010996)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)	acylglycerol lipase activity (GO:0047372)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						TGGTACCTGCGTTCCCATGCA	0.572																																						ENST00000339157.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						c.(529-531)aaC>aaT		abhydrolase domain containing 12							101.0	75.0	84.0					20																	25300846		2203	4300	6503	SO:0001819	synonymous_variant	26090					integral to membrane	acylglycerol lipase activity	g.chr20:25300846G>A	AL117442	CCDS13172.1, CCDS42857.1	20p11.21	2007-04-24	2006-03-10	2006-03-10	ENSG00000100997	ENSG00000100997		"""Abhydrolase domain containing"""	15868	protein-coding gene	gene with protein product		613599	"""chromosome 20 open reading frame 22"""	C20orf22			Standard	NM_015600		Approved	DKFZP434P106, dJ965G21.2, BEM46L2, ABHD12A	uc002wuq.3	Q8N2K0	OTTHUMG00000032121	ENST00000339157.5:c.531C>T	20.37:g.25300846G>A						ABHD12_ENST00000376542.3_Silent_p.N177N	p.N177N	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN			4	803	-			177					A6NED4|A6NJ90|A8K450|B4DE71|Q5T710|Q5T711|Q96CR1|Q9BX05|Q9NPX7|Q9UFV6	Silent	SNP	ENST00000339157.5	37	c.531C>T	CCDS42857.1																																																																																				0.572	ABHD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078423.2	NM_015600		4	31	0	0	0	1	0	4	31				
IQCH	64799	broad.mit.edu	37	15	67768050	67768050	+	Missense_Mutation	SNP	G	G	A	rs140009311		TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr15:67768050G>A	ENST00000335894.4	+	18	2759	c.2693G>A	c.(2692-2694)cGc>cAc	p.R898H	IQCH_ENST00000360277.4_Missense_Mutation_p.R559H|IQCH_ENST00000358767.3_Missense_Mutation_p.R634H|IQCH_ENST00000546225.1_Missense_Mutation_p.R555H|IQCH-AS1_ENST00000559298.1_lincRNA	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	898										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		GCAACCAGTCGCTATGCAGTG	0.403													G|||	1	0.000199681	0.0	0.0	5008	,	,		18870	0.0		0.001	False		,,,				2504	0.0					ENST00000335894.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33						c.(2692-2694)cGc>cAc		IQ motif containing H		G	HIS/ARG	0,4402		0,0,2201	140.0	113.0	122.0		2693	5.9	1.0	15	dbSNP_134	122	4,8594		0,4,4295	yes	missense	IQCH	NM_001031715.2	29	0,4,6496	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging	898/1028	67768050	4,12996	2201	4299	6500	SO:0001583	missense	64799							g.chr15:67768050G>A	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.2693G>A	15.37:g.67768050G>A	ENSP00000336861:p.Arg898His					IQCH_ENST00000360277.4_Missense_Mutation_p.R559H|IQCH_ENST00000358767.3_Missense_Mutation_p.R634H|IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000546225.1_Missense_Mutation_p.R555H	p.R898H	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	18	2759	+			898					A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	ENST00000335894.4	37	c.2693G>A	CCDS32273.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	21.4	4.150076	0.78001	0.0	4.65E-4	ENSG00000103599	ENST00000358767;ENST00000546225;ENST00000335894;ENST00000360277	T;T;T;T	0.61742	0.25;0.08;0.2;0.24	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.79233	0.4411	M	0.82056	2.57	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.991;0.994;0.998	T	0.80153	-0.1501	10	0.72032	D	0.01	-12.7038	19.9698	0.97280	0.0:0.0:1.0:0.0	.	555;559;898	Q86VS3-2;Q86VS3-4;Q86VS3	.;.;IQCH_HUMAN	H	634;555;898;559	ENSP00000351617:R634H;ENSP00000444118:R555H;ENSP00000336861:R898H;ENSP00000353419:R559H	ENSP00000336861:R898H	R	+	2	0	IQCH	65555104	1.000000	0.71417	0.993000	0.49108	0.324000	0.28378	5.408000	0.66368	2.817000	0.96982	0.563000	0.77884	CGC		0.403	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784		29	41	0	0	0	1	0	29	41				
RYR1	6261	broad.mit.edu	37	19	39038896	39038896	+	Missense_Mutation	SNP	G	G	A	rs374441925		TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr19:39038896G>A	ENST00000359596.3	+	89	12118	c.12118G>A	c.(12118-12120)Gcc>Acc	p.A4040T	RYR1_ENST00000360985.3_Missense_Mutation_p.A4035T|RYR1_ENST00000355481.4_Missense_Mutation_p.A4035T			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4040					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.A4040T(2)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CGGCATGATCGCCCGGCAGAT	0.577																																						ENST00000355481.4																			2	Substitution - Missense(2)	p.A4040T(2)	endometrium(1)|kidney(1)	NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(12103-12105)Gcc>Acc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)	G	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	147.0	106.0	120.0		12118,12103	4.2	1.0	19		120	0,8600		0,0,4300	no	missense,missense	RYR1	NM_000540.2,NM_001042723.1	58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	4040/5039,4035/5034	39038896	1,13005	2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39038896G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.12118G>A	19.37:g.39038896G>A	ENSP00000352608:p.Ala4040Thr					RYR1_ENST00000360985.3_Missense_Mutation_p.A4035T|RYR1_ENST00000359596.3_Missense_Mutation_p.A4040T	p.A4035T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		88	12234	+	all_cancers(60;7.91e-06)		4040					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.12103G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331379	0.60853	2.27E-4	0.0	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.65549	-0.16;-0.16;-0.16	4.19	4.19	0.49359	.	0.000000	0.64402	U	0.000003	T	0.67822	0.2934	L	0.38175	1.15	0.48511	D	0.999669	D;D;D	0.71674	0.998;0.996;0.992	P;P;P	0.59115	0.852;0.688;0.491	T	0.72978	-0.4127	10	0.87932	D	0	.	16.7047	0.85368	0.0:0.0:1.0:0.0	.	4035;4035;4040	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	T	4040;4035;4035	ENSP00000352608:A4040T;ENSP00000347667:A4035T;ENSP00000354254:A4035T	ENSP00000347667:A4035T	A	+	1	0	RYR1	43730736	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	9.520000	0.98027	2.344000	0.79699	0.561000	0.74099	GCC		0.577	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			11	31	0	0	0	1	0	11	31				
RUVBL1	8607	broad.mit.edu	37	3	127816297	127816297	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr3:127816297C>T	ENST00000322623.5	-	8	961	c.862G>A	c.(862-864)Gac>Aac	p.D288N	RUVBL1_ENST00000417360.1_Missense_Mutation_p.D288N|RUVBL1_ENST00000464873.1_Missense_Mutation_p.D228N	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	288					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Ino80 complex (GO:0031011)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)			endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		ATGCCCTGGTCGATGTACTTG	0.557																																						ENST00000464873.1																			0				endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(682-684)Gac>Aac		RuvB-like AAA ATPase 1							177.0	139.0	152.0					3																	127816297		2203	4300	6503	SO:0001583	missense	8607				cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding	g.chr3:127816297C>T	AF070735	CCDS3047.1	3q21	2013-09-12	2013-09-12		ENSG00000175792	ENSG00000175792		"""INO80 complex subunits"", ""ATPases / AAA-type"""	10474	protein-coding gene	gene with protein product	"""pontin"", ""INO80 complex subunit H"""	603449	"""RuvB (E coli homolog)-like 1"", ""RuvB-like 1 (E. coli)"", ""RuvB-like AAA ATPase"""			9774387, 9588198	Standard	NM_003707		Approved	TIP49, NMP238, RVB1, TIP49a, Pontin52, ECP54, TIH1, Rvb1, INO80H	uc003ekh.3	Q9Y265	OTTHUMG00000159658	ENST00000322623.5:c.862G>A	3.37:g.127816297C>T	ENSP00000318297:p.Asp288Asn					RUVBL1_ENST00000322623.5_Missense_Mutation_p.D288N|RUVBL1_ENST00000417360.1_Missense_Mutation_p.D288N	p.D228N			Q9Y265	RUVB1_HUMAN		GBM - Glioblastoma multiforme(114;0.181)	8	1432	-			288					B2R5S0|P82276|Q1KMR0|Q53HK5|Q53HL7|Q53Y27|Q9BSX9	Missense_Mutation	SNP	ENST00000322623.5	37	c.682G>A	CCDS3047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.135490|4.135490	0.77662|0.77662	.|.	.|.	ENSG00000175792|ENSG00000175792	ENST00000464873;ENST00000322623;ENST00000417360;ENST00000478892|ENST00000472125	T;T;T|.	0.64438|.	-0.09;-0.1;0.32|.	5.57|5.57	5.57|5.57	0.84162|0.84162	TIP49, C-terminal (1);ATPase, AAA+ type, core (1);|.	0.041845|.	0.85682|.	D|.	0.000000|.	T|T	0.75510|0.75510	0.3859|0.3859	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	B;B;B;P|.	0.42735|.	0.02;0.043;0.006;0.788|.	B;B;B;B|.	0.41917|.	0.009;0.044;0.011;0.37|.	T|T	0.73411|0.73411	-0.3991|-0.3991	10|5	0.72032|.	D|.	0.01|.	-5.1743|-5.1743	19.5555|19.5555	0.95345|0.95345	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	288;288;228;228|.	Q9Y265-2;Q9Y265;E7ETR0;B3KRS7|.	.;RUVB1_HUMAN;.;.|.	N|Q	228;288;288;87|107	ENSP00000420738:D228N;ENSP00000318297:D288N;ENSP00000393755:D288N|.	ENSP00000318297:D288N|.	D|R	-|-	1|2	0|0	RUVBL1|RUVBL1	129298987|129298987	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.067000|7.067000	0.76741|0.76741	2.619000|2.619000	0.88677|0.88677	0.491000|0.491000	0.48974|0.48974	GAC|CGA		0.557	RUVBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356728.2			22	36	0	0	0	1	0	22	36				
MMACHC	25974	broad.mit.edu	37	1	45973975	45973975	+	Missense_Mutation	SNP	T	T	G			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr1:45973975T>G	ENST00000401061.4	+	3	648	c.368T>G	c.(367-369)gTa>gGa	p.V123G		NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	123					cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCAGCCCATGTAGCTGGGGCT	0.552																																						ENST00000401061.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8						c.(367-369)gTa>gGa		methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						65.0	69.0	68.0					1																	45973975		1937	4121	6058	SO:0001583	missense	25974						cobalamin binding	g.chr1:45973975T>G		CCDS41324.1	1p34.1	2011-05-12			ENSG00000132763	ENSG00000132763			24525	protein-coding gene	gene with protein product		609831				16311595	Standard	NM_015506		Approved	DKFZP564I122, cblC	uc009vxv.3	Q9Y4U1	OTTHUMG00000007742	ENST00000401061.4:c.368T>G	1.37:g.45973975T>G	ENSP00000383840:p.Val123Gly						p.V123G	NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN			3	648	+	Acute lymphoblastic leukemia(166;0.155)		123					Q5T157|Q9BRQ7	Missense_Mutation	SNP	ENST00000401061.4	37	c.368T>G	CCDS41324.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.721161	0.89205	.	.	ENSG00000132763	ENST00000401061	D	0.97924	-4.61	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.98795	0.9594	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.99799	1.1035	10	0.87932	D	0	-14.7476	15.8221	0.78662	0.0:0.0:0.0:1.0	.	123	Q9Y4U1	MMAC_HUMAN	G	123	ENSP00000383840:V123G	ENSP00000383840:V123G	V	+	2	0	MMACHC	45746562	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	7.468000	0.80943	2.227000	0.72691	0.460000	0.39030	GTA		0.552	MMACHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020864.2	NM_015506		17	29	0	0	0	1	0	17	29				
LDLR	3949	broad.mit.edu	37	19	11224234	11224234	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr19:11224234G>A	ENST00000558518.1	+	10	1569	c.1382G>A	c.(1381-1383)gGc>gAc	p.G461D	LDLR_ENST00000535915.1_Missense_Mutation_p.G420D|LDLR_ENST00000557933.1_Missense_Mutation_p.G461D|LDLR_ENST00000545707.1_Missense_Mutation_p.G334D|LDLR_ENST00000455727.2_Missense_Mutation_p.G293D|LDLR_ENST00000558013.1_Missense_Mutation_p.G461D	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	461					cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	AGAGCCCACGGCGTCTCTTCC	0.637																																					GBM(18;201 575 7820 21545)	ENST00000558518.1																			1	Unknown(1)	p.?(1)	lung(1)	breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1381-1383)gGc>gAc		low density lipoprotein receptor	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)						42.0	40.0	41.0					19																	11224234		2203	4300	6503	SO:0001583	missense	3949				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	g.chr19:11224234G>A	AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"""Low density lipoprotein receptors"""	6547	protein-coding gene	gene with protein product	"""familial hypercholesterolemia"""	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.1382G>A	19.37:g.11224234G>A	ENSP00000454071:p.Gly461Asp					LDLR_ENST00000455727.2_Missense_Mutation_p.G293D|LDLR_ENST00000558013.1_Missense_Mutation_p.G461D|LDLR_ENST00000557933.1_Missense_Mutation_p.G461D|LDLR_ENST00000535915.1_Missense_Mutation_p.G420D|LDLR_ENST00000545707.1_Missense_Mutation_p.G334D	p.G461D	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	10	1569	+		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)	461					B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	ENST00000558518.1	37	c.1382G>A	CCDS12254.1	.	.	.	.	.	.	.	.	.	.	G	0.485	-0.878274	0.02550	.	.	ENSG00000130164	ENST00000252444;ENST00000545707;ENST00000535915;ENST00000455727	D;D;D	0.99176	-5.52;-5.52;-5.52	4.55	1.15	0.20763	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	1.267580	0.05682	N	0.590638	D	0.94515	0.8234	N	0.10645	0.015	0.09310	N	1	B;B;B;B;B;B	0.06786	0.0;0.001;0.001;0.0;0.0;0.0	B;B;B;B;B;B	0.17098	0.016;0.008;0.017;0.006;0.006;0.006	D	0.90920	0.4782	10	0.05959	T	0.93	.	6.401	0.21638	0.4738:0.0:0.5262:0.0	.	293;334;340;420;473;461	B4DR00;B4DJZ8;B4DII3;B4DTQ3;Q59FQ1;P01130	.;.;.;.;.;LDLR_HUMAN	D	461;334;420;293	ENSP00000437639:G334D;ENSP00000440520:G420D;ENSP00000397829:G293D	ENSP00000252444:G461D	G	+	2	0	LDLR	11085234	0.933000	0.31639	0.000000	0.03702	0.001000	0.01503	1.984000	0.40658	0.349000	0.23975	0.555000	0.69702	GGC		0.637	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			16	25	0	0	0	1	0	16	25				
PRG4	10216	broad.mit.edu	37	1	186276590	186276592	+	In_Frame_Del	DEL	CCC	CCC	-	rs201872234|rs372831102		TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr1:186276590_186276592delCCC	ENST00000445192.2	+	7	1784_1786	c.1739_1741delCCC	c.(1738-1743)accccc>acc	p.P581del	PRG4_ENST00000367485.4_In_Frame_Del_p.P488del|PRG4_ENST00000367486.3_In_Frame_Del_p.P538del|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_In_Frame_Del_p.P540del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	581	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GCCCCAACTACCCCCAAGGAGCC	0.64																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1738-1743)acc>a		proteoglycan 4																																				SO:0001651	inframe_deletion	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276590_186276592delCCC	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1739_1741delCCC	1.37:g.186276590_186276592delCCC	ENSP00000399679:p.Pro581del					PRG4_ENST00000367485.4_In_Frame_Del_p.TP487del|PRG4_ENST00000367483.4_In_Frame_Del_p.TP539del|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_In_Frame_Del_p.TP537del	p.TP580del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1784_1786	+			580			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	In_Frame_Del	DEL	ENST00000445192.2	37	c.1739_1741delCCC	CCDS1369.1																																																																																				0.640	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		14	58						14	58	---	---	---	---
PPP2R5A	5525	broad.mit.edu	37	1	212459454	212459455	+	Start_Codon_Ins	INS	-	-	GTC	rs572979647	byFrequency	TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr1:212459454_212459455insGTC	ENST00000261461.2	+	0	576_577					NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha						negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of lipid kinase activity (GO:0090219)|positive regulation of protein dephosphorylation (GO:0035307)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|M band (GO:0031430)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)|Z disc (GO:0030018)	kinase binding (GO:0019900)|protein phosphatase type 2A regulator activity (GO:0008601)	p.M1K(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		GCCGCGGAGATGTCGTCGTCGT	0.733														27	0.00539137	0.0008	0.0144	5008	,	,		11899	0.0		0.0149	False		,,,				2504	0.001					ENST00000261461.2																			1	Substitution - Missense(1)	p.M1K(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16								protein phosphatase 2, regulatory subunit B', alpha																																				SO:0001582	initiator_codon_variant	5525				negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity	g.chr1:212459454_212459455insGTC	BC022474	CCDS1503.1, CCDS55686.1	1q32.2-q32.3	2010-06-18	2010-04-14		ENSG00000066027	ENSG00000066027		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9309	protein-coding gene	gene with protein product		601643	"""protein phosphatase 2, regulatory subunit B (B56), alpha isoform"", ""protein phosphatase 2, regulatory subunit B', alpha isoform"""			7592815	Standard	NM_006243		Approved	PR61A, B56A	uc001hjb.3	Q15172	OTTHUMG00000036750	ENST00000261461.2:c.12_14dupGTC	1.37:g.212459461_212459463dupGTC								NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)	0	576_577	+								B2R6D2|B7Z7L2|D3DT99|Q2NL72|Q5VVB2|Q8TBI9	Translation_Start_Site	INS	ENST00000261461.2	37		CCDS1503.1																																																																																				0.733	PPP2R5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089302.1	NM_006243		7	1						7	1	---	---	---	---
SSB	6741	broad.mit.edu	37	2	170662037	170662038	+	In_Frame_Ins	INS	-	-	AAACTG			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr2:170662037_170662038insAAACTG	ENST00000409333.1	+	3	367_368	c.120_121insAAACTG	c.(121-123)aaa>AAACTGaaa	p.41_41K>KLK	SSB_ENST00000260956.4_In_Frame_Ins_p.41_41K>KLK			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	41	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				histone mRNA metabolic process (GO:0008334)|tRNA modification (GO:0006400)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						AGGAACAGATAAAACTGGATGA	0.332																																						ENST00000409333.1																			0				endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(118-123)ataact>atAAACTGaact		Sjogren syndrome antigen B (autoantigen La)																																				SO:0001652	inframe_insertion	6741				histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding	g.chr2:170662037_170662038insAAACTG		CCDS2237.1	2q31.1	2014-02-14		2005-06-16	ENSG00000138385	ENSG00000138385		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	11316	protein-coding gene	gene with protein product	"""La ribonucleoprotein domain family, member 3"""	109090					Standard	NM_003142		Approved	LARP3, La, La/SSB	uc002ufk.3	P05455	OTTHUMG00000132212	ENST00000409333.1:c.121_126dupAAACTG	2.37:g.170662038_170662043dupAAACTG	Exception_encountered					SSB_ENST00000260956.4_In_Frame_Ins_p.40_41IT>IN*T	p.40_41IT>IN*T			P05455	LA_HUMAN			3	367_368	+			40			HTH La-type RNA-binding.		Q15367|Q53XJ4	In_Frame_Ins	INS	ENST00000409333.1	37	c.120_121insAAACTG	CCDS2237.1																																																																																				0.332	SSB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333316.1	NM_003142		11	22						11	22	---	---	---	---
HIST1H2BF	8343	broad.mit.edu	37	6	26199806	26199806	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr6:26199806delC	ENST00000359985.1	+	1	59	c.20delC	c.(19-21)tccfs	p.S7fs	HIST1H3D_ENST00000356476.2_5'Flank|HIST1H2AD_ENST00000341023.1_5'Flank|HIST1H3D_ENST00000377831.5_5'Flank	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	7					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				CCTGCTAAGTCCGCTCCTGCT	0.493																																						ENST00000359985.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17						c.(19-21)tcfs		histone cluster 1, H2bf							95.0	92.0	93.0					6																	26199806		2203	4300	6503	SO:0001589	frameshift_variant	8343				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26199806delC	Z80779	CCDS4592.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197846	ENSG00000277224		"""Histones / Replication-dependent"""	4752	protein-coding gene	gene with protein product		602804	"""H2B histone family, member G"", ""histone 1, H2bf"""	H2BFG		9119399, 12408966	Standard	NM_003522		Approved	H2B/g	uc003ngx.3	P62807	OTTHUMG00000014445	ENST00000359985.1:c.20delC	6.37:g.26199806delC	ENSP00000353074:p.Ser7fs						p.S7fs	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN			1	59	+		all_hematologic(11;0.196)	7					P02278|Q3B872|Q4VB69|Q93078|Q93080	Frame_Shift_Del	DEL	ENST00000359985.1	37	c.20delC	CCDS4592.1																																																																																				0.493	HIST1H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040108.1	NM_003522		29	60						29	60	---	---	---	---
DPY19L2P1	554236	broad.mit.edu	37	7	35145789	35145793	+	RNA	DEL	CTAAA	CTAAA	-	rs201156272|rs76141590	byFrequency	TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr7:35145789_35145793delCTAAA	ENST00000436258.1	-	0	1553_1557							Q6NXN4	D19P1_HUMAN	DPY19L2 pseudogene 1							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										GTGACTATCTCTAAACTACTTAGGA	0.19														397	0.0792732	0.0295	0.0692	5008	,	,		16112	0.0675		0.1024	False		,,,				2504	0.1421					ENST00000436258.1																			0																																																			0							g.chr7:35145789_35145793delCTAAA	BC066987		7p14.2	2014-03-18	2013-09-12		ENSG00000189212	ENSG00000189212			22305	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 1 (C. elegans)"""				Standard	NR_002833		Approved		uc031swy.1	Q6NXN4	OTTHUMG00000155026		7.37:g.35145789_35145793delCTAAA														0	1553_1557	-								B4E2E3	RNA	DEL	ENST00000436258.1	37																																																																																						0.190	DPY19L2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338113.1			3	6						3	6	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)ctafs	p.L454fs	CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1360-1362)cafs		cell division cycle 27							30.0	30.0	30.0					17																	45219612		2201	4295	6496	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219612delA	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1361delT	17.37:g.45219612delA	ENSP00000066544:p.Leu454fs					CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs	p.L454fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			11	1454	-			454					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.1361delT	CCDS11509.1																																																																																				0.308	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			12	38						12	38	---	---	---	---
WAS	7454	broad.mit.edu	37	X	48543988	48543988	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chrX:48543988delC	ENST00000376701.4	+	3	401	c.326delC	c.(325-327)accfs	p.T109fs	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	109	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				actin filament polymerization (GO:0030041)|actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|blood coagulation (GO:0007596)|defense response (GO:0006952)|endosomal transport (GO:0016197)|epidermis development (GO:0008544)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|regulation of catalytic activity (GO:0050790)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|phospholipase binding (GO:0043274)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				GTCTACTCCACCCCCACCCCC	0.622			"""Mis, N, F, S"""			lymphoma																																ENST00000376701.4				X-linked recessive		Wiskott-Aldrich syndrome	X	Xp11.23-p11.22	7454	"""Mis, N, F, S"""	Wiskott-Aldrich syndrome			L		lymphoma			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						c.(325-327)acfs		Wiskott-Aldrich syndrome							76.0	51.0	59.0					X																	48543988		2202	4293	6495	SO:0001589	frameshift_variant	7454				blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity	g.chrX:48543988delC	AF115548	CCDS14303.1	Xp11.4-p11.21	2014-09-17	2012-07-12		ENSG00000015285	ENSG00000015285			12731	protein-coding gene	gene with protein product	"""eczema-thrombocytopenia"""	300392	"""thrombocytopenia 1 (X-linked)"", ""Wiskott-Aldrich syndrome (eczema-thrombocytopenia)"""	IMD2, THC		7795648	Standard	NM_000377		Approved	WASP	uc004dkm.4	P42768	OTTHUMG00000034483	ENST00000376701.4:c.326delC	X.37:g.48543988delC	ENSP00000365891:p.Thr109fs					WAS_ENST00000483750.1_3'UTR	p.T109fs	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN			3	401	+		all_lung(315;1.27e-10)	109			WH1.		Q9BU11|Q9UNJ9	Frame_Shift_Del	DEL	ENST00000376701.4	37	c.326delC	CCDS14303.1																																																																																				0.622	WAS-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083379.1	NM_000377		2	4						2	4	---	---	---	---
