#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
IL6R	3570	broad.mit.edu	37	1	154407131	154407131	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr1:154407131G>A	ENST00000368485.3	+	4	1032	c.595G>A	c.(595-597)Ggg>Agg	p.G199R	IL6R_ENST00000344086.4_Missense_Mutation_p.G199R	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	199	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)	p.G199W(1)	IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	CAGTAGTGTCGGGAGCAAGTT	0.493																																						ENST00000368485.3																		IL6R/ATP8B2(2)	1	Substitution - Missense(1)	p.G199W(1)	lung(1)	breast(2)|large_intestine(1)|ovary(3)	6						c.(595-597)Ggg>Agg		interleukin 6 receptor							103.0	106.0	105.0					1																	154407131		2203	4300	6503	SO:0001583	missense	3570				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity	g.chr1:154407131G>A	X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.595G>A	1.37:g.154407131G>A	ENSP00000357470:p.Gly199Arg					IL6R_ENST00000344086.4_Missense_Mutation_p.G199R	p.G199R	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		4	1032	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		199					A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Missense_Mutation	SNP	ENST00000368485.3	37	c.595G>A	CCDS1067.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.213790	0.58452	.	.	ENSG00000160712	ENST00000368485;ENST00000344086	T;T	0.71698	-0.59;-0.59	4.83	2.95	0.34219	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.862428	0.10315	N	0.689507	T	0.63873	0.2548	L	0.34521	1.04	0.09310	N	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.53549	-0.8423	10	0.87932	D	0	-38.4413	6.7201	0.23325	0.2077:0.0:0.7923:0.0	.	199;199	P08887-2;P08887	.;IL6RA_HUMAN	R	199	ENSP00000357470:G199R;ENSP00000340589:G199R	ENSP00000340589:G199R	G	+	1	0	IL6R	152673755	0.761000	0.28439	0.066000	0.19879	0.077000	0.17291	2.116000	0.41930	1.388000	0.46506	0.655000	0.94253	GGG		0.493	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087911.1	NM_000565		38	91	0	0	0	1	0	38	91				
FAM86DP	692099	broad.mit.edu	37	3	75475670	75475670	+	RNA	SNP	A	A	C	rs7430363	byFrequency	TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr3:75475670A>C	ENST00000459803.1	-	0	859					NR_024241.1				family with sequence similarity 86, member D, pseudogene																		ACCTCAGGAGACTGCTGGTGC	0.627													.|||	2317	0.46266	0.7315	0.4092	5008	,	,		13562	0.4812		0.2555	False		,,,				2504	0.3313					ENST00000459803.1																			0																																																			692099							g.chr3:75475670A>C	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75475670A>C								NR_024241.1						0	859	-									RNA	SNP	ENST00000459803.1	37																																																																																						0.627	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		4	47	0	0	0	1	0	4	47				
NXT2	55916	broad.mit.edu	37	X	108785890	108785890	+	Silent	SNP	C	C	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chrX:108785890C>T	ENST00000372106.1	+	4	533	c.402C>T	c.(400-402)ttC>ttT	p.F134F	NXT2_ENST00000372107.1_Silent_p.F106F|NXT2_ENST00000218004.1_Silent_p.F189F|NXT2_ENST00000372103.1_Silent_p.F106F	NM_001242617.1	NP_001229546.1	Q9NPJ8	NXT2_HUMAN	nuclear transport factor 2-like export factor 2	134	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	6						GTGATTGCTTCCGTTTTCAAG	0.378																																						ENST00000218004.1																			0				endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	6						c.(565-567)ttC>ttT		nuclear transport factor 2-like export factor 2							174.0	164.0	167.0					X																	108785890		2203	4300	6503	SO:0001819	synonymous_variant	55916				mRNA transport|protein transport	cytoplasm|nucleus		g.chrX:108785890C>T	AF246127	CCDS14546.1, CCDS56605.1, CCDS56606.1	Xq22.3	2008-02-05			ENSG00000101888	ENSG00000101888			18151	protein-coding gene	gene with protein product		300320				11073998	Standard	NM_018698		Approved	P15-2	uc004eoe.2	Q9NPJ8	OTTHUMG00000022185	ENST00000372106.1:c.402C>T	X.37:g.108785890C>T						NXT2_ENST00000372103.1_Silent_p.F106F|NXT2_ENST00000372106.1_Silent_p.F134F|NXT2_ENST00000372107.1_Silent_p.F106F	p.F189F	NM_018698.4	NP_061168.2	Q9NPJ8	NXT2_HUMAN			5	669	+			134					D3DUY1|Q0VAN8|Q5JYV5|Q5JYV6|Q5JYV7|Q9H8U0|Q9NQ64|Q9NRL7|Q9Y3M4|Q9Y3M5	Silent	SNP	ENST00000372106.1	37	c.567C>T	CCDS56605.1																																																																																				0.378	NXT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057886.1	NM_018698		24	31	0	0	0	1	0	24	31				
ODC1	4953	broad.mit.edu	37	2	10581790	10581790	+	Silent	SNP	G	G	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr2:10581790G>A	ENST00000234111.4	-	11	1596	c.1086C>T	c.(1084-1086)ggC>ggT	p.G362G	ODC1_ENST00000446285.1_5'Flank|ODC1_ENST00000405333.1_Silent_p.G362G	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	362					cellular nitrogen compound metabolic process (GO:0034641)|kidney development (GO:0001822)|polyamine metabolic process (GO:0006595)|positive regulation of cell proliferation (GO:0008284)|putrescine biosynthetic process from ornithine (GO:0033387)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ornithine decarboxylase activity (GO:0004586)|protein homodimerization activity (GO:0042803)			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Spermine(DB00127)	TCCGATCGAGGCCATCACATG	0.453																																						ENST00000234111.4																			0				NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19						c.(1084-1086)ggC>ggT		ornithine decarboxylase 1	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)						108.0	103.0	104.0					2																	10581790		2203	4300	6503	SO:0001819	synonymous_variant	4953				polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding	g.chr2:10581790G>A		CCDS1672.1	2p25	2012-10-02			ENSG00000115758	ENSG00000115758	4.1.1.17		8109	protein-coding gene	gene with protein product		165640					Standard	NM_002539		Approved	ODC	uc002rao.1	P11926	OTTHUMG00000090450	ENST00000234111.4:c.1086C>T	2.37:g.10581790G>A						ODC1_ENST00000405333.1_Silent_p.G362G	p.G362G	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	11	1596	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		362					Q53TU3|Q6LDS9	Silent	SNP	ENST00000234111.4	37	c.1086C>T	CCDS1672.1																																																																																				0.453	ODC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206896.2			8	58	0	0	0	1	0	8	58				
HERC2	8924	broad.mit.edu	37	15	28408307	28408307	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr15:28408307C>T	ENST00000261609.7	-	69	10787	c.10679G>A	c.(10678-10680)cGg>cAg	p.R3560Q		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTCCCCGGCCCGGCTGCACAC	0.647																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(10678-10680)cGg>cAg		HECT and RLD domain containing E3 ubiquitin protein ligase 2							93.0	85.0	88.0					15																	28408307		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28408307C>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.10679G>A	15.37:g.28408307C>T	ENSP00000261609:p.Arg3560Gln						p.R3560Q	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	69	10787	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3560						Missense_Mutation	SNP	ENST00000261609.7	37	c.10679G>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	35	5.587501	0.96590	.	.	ENSG00000128731	ENST00000261609	T	0.51325	0.71	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.70491	0.3230	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.74380	-0.3684	10	0.72032	D	0.01	.	19.0186	0.92903	0.0:1.0:0.0:0.0	.	3560	O95714	HERC2_HUMAN	Q	3560	ENSP00000261609:R3560Q	ENSP00000261609:R3560Q	R	-	2	0	HERC2	26081902	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	7.776000	0.85560	2.550000	0.86006	0.655000	0.94253	CGG		0.647	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		47	98	0	0	0	1	0	47	98				
TMEM199	147007	broad.mit.edu	37	17	26691519	26691519	+	IGR	SNP	G	G	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr17:26691519G>T	ENST00000292114.3	+	0	3148				VTN_ENST00000431468.1_Missense_Mutation_p.S141Y|TMEM199_ENST00000509083.1_Intron|SARM1_ENST00000379061.4_Intron|VTN_ENST00000536498.1_Missense_Mutation_p.S140Y|CTB-96E2.7_ENST00000577850.1_RNA|CTB-96E2.2_ENST00000555059.2_3'UTR|CTB-96E2.3_ENST00000591482.1_RNA|VTN_ENST00000438614.1_Missense_Mutation_p.S140Y	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TGTGCCGCTGGAGGGTGGAGG	0.622																																						ENST00000536498.1																			0				endometrium(2)|large_intestine(1)|lung(1)|skin(1)	5						c.(418-420)tCc>tAc		SEBOX homeobox							42.0	47.0	45.0					17																	26691519		2035	4198	6233	SO:0001628	intergenic_variant	645832				cell differentiation|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:26691519G>T	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498		17.37:g.26691519G>T						SEBOX_ENST00000438614.1_Missense_Mutation_p.S140Y|SARM1_ENST00000379061.4_Intron|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Intron|SEBOX_ENST00000431468.1_Missense_Mutation_p.S141Y	p.S140Y			Q9HB31	SEBOX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	10	1816	-	all_lung(13;0.000354)|Lung NSC(42;0.00115)		141						Missense_Mutation	SNP	ENST00000292114.3	37	c.419C>A	CCDS11228.1	.	.	.	.	.	.	.	.	.	.	G	5.563	0.288648	0.10513	.	.	ENSG00000109072;ENSG00000109072;ENSG00000109072;ENSG00000109072;ENSG00000258852	ENST00000431468;ENST00000536498;ENST00000438614;ENST00000247029;ENST00000555059	D;D;D	0.92348	-2.96;-3.02;-3.02	4.92	0.195	0.15151	.	1.014940	0.07895	N	0.971820	D	0.84669	0.5523	L	0.29908	0.895	0.09310	N	1	P;P	0.49961	0.93;0.868	B;B	0.42214	0.38;0.38	T	0.74601	-0.3611	10	0.21540	T	0.41	.	5.5472	0.17071	0.1679:0.0:0.4757:0.3564	.	141;140	Q9HB31;C9JDG5	SEBOX_HUMAN;.	Y	141;140;140;145;166	ENSP00000416240:S141Y;ENSP00000444503:S140Y;ENSP00000395142:S140Y	ENSP00000247029:S145Y	S	-	2	0	VTN;CTB-96E2.2	23715646	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.065000	0.11617	0.248000	0.21435	0.561000	0.74099	TCC		0.622	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464		13	26	1	0	0.00010058	1	0.000104172	13	26				
WIPF2	147179	broad.mit.edu	37	17	38418792	38418792	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr17:38418792G>C	ENST00000323571.4	+	4	452	c.212G>C	c.(211-213)aGt>aCt	p.S71T	WIPF2_ENST00000583130.1_Missense_Mutation_p.S71T|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000585043.1_Missense_Mutation_p.S71T	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	71					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						AAAGGAAGCAGTGGTGGCTAT	0.537										HNSCC(43;0.11)																												ENST00000323571.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						c.(211-213)aGt>aCt		WAS/WASL interacting protein family, member 2							75.0	68.0	70.0					17																	38418792		2203	4300	6503	SO:0001583	missense	147179					cytoplasm|cytoskeleton	actin binding	g.chr17:38418792G>C	BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.212G>C	17.37:g.38418792G>C	ENSP00000320924:p.Ser71Thr	HNSCC(43;0.11)				WIPF2_ENST00000583130.1_Missense_Mutation_p.S71T|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000585043.1_Missense_Mutation_p.S71T|WIPF2_ENST00000494757.1_3'UTR	p.S71T	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN			4	452	+			71					A8K0L3|Q658J8|Q71RE1|Q8TE44	Missense_Mutation	SNP	ENST00000323571.4	37	c.212G>C	CCDS11364.1	.	.	.	.	.	.	.	.	.	.	g	17.75	3.465809	0.63513	.	.	ENSG00000171475	ENST00000323571	T	0.32753	1.44	5.24	5.24	0.73138	.	0.280615	0.43110	D	0.000614	T	0.37019	0.0988	M	0.64404	1.975	0.80722	D	1	B	0.16166	0.016	B	0.18263	0.021	T	0.20773	-1.0265	10	0.62326	D	0.03	-0.3564	19.1948	0.93682	0.0:0.0:1.0:0.0	.	71	Q8TF74	WIPF2_HUMAN	T	71	ENSP00000320924:S71T	ENSP00000320924:S71T	S	+	2	0	WIPF2	35672318	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	6.601000	0.74136	2.608000	0.88229	0.461000	0.40582	AGT		0.537	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	NM_133264		20	67	0	0	0	1	0	20	67				
TP53BP1	7158	broad.mit.edu	37	15	43701117	43701117	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr15:43701117C>T	ENST00000263801.3	-	26	5815	c.5563G>A	c.(5563-5565)Gag>Aag	p.E1855K	TP53BP1_ENST00000382044.4_Missense_Mutation_p.E1860K|TP53BP1_ENST00000450115.2_Missense_Mutation_p.E1858K|TP53BP1_ENST00000382039.3_Missense_Mutation_p.E1810K	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1855					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CTTTGCTCCTCAAGGCTGTAC	0.483								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(5563-5565)Gag>Aag	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							100.0	94.0	96.0					15																	43701117		2201	4298	6499	SO:0001583	missense	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43701117C>T	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.5563G>A	15.37:g.43701117C>T	ENSP00000263801:p.Glu1855Lys					TP53BP1_ENST00000450115.2_Missense_Mutation_p.E1858K|TP53BP1_ENST00000382039.3_Missense_Mutation_p.E1810K|TP53BP1_ENST00000382044.4_Missense_Mutation_p.E1860K	p.E1855K	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	26	5815	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	1855					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.5563G>A	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610460	0.87258	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0	5.34	4.36	0.52297	BRCT (1);	0.216983	0.40385	N	0.001116	D	0.87609	0.6220	L	0.47716	1.5	0.35655	D	0.812072	P;D;P	0.57899	0.483;0.981;0.617	B;D;B	0.63957	0.084;0.92;0.173	D	0.86556	0.1838	10	0.20519	T	0.43	-16.1489	14.5413	0.67997	0.0:0.7656:0.2344:0.0	.	1855;1860;1858	Q12888;Q12888-2;F8VY86	TP53B_HUMAN;.;.	K	1855;1860;1810;1858	ENSP00000263801:E1855K;ENSP00000371475:E1860K;ENSP00000371470:E1810K;ENSP00000393497:E1858K	ENSP00000263801:E1855K	E	-	1	0	TP53BP1	41488409	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.902000	0.48703	2.659000	0.90383	0.650000	0.86243	GAG		0.483	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			13	60	0	0	0	1	0	13	60				
SERPINI2	5276	broad.mit.edu	37	3	167189421	167189421	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr3:167189421G>T	ENST00000476257.1	-	3	500	c.202C>A	c.(202-204)Cag>Aag	p.Q68K	SERPINI2_ENST00000471111.1_Missense_Mutation_p.Q68K|SERPINI2_ENST00000465031.1_5'UTR|SERPINI2_ENST00000461846.1_Missense_Mutation_p.Q68K|SERPINI2_ENST00000264677.4_Missense_Mutation_p.Q68K			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	68					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						ATCTGCTGCTGTGCTTTTCCT	0.388																																						ENST00000476257.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						c.(202-204)Cag>Aag		serpin peptidase inhibitor, clade I (pancpin), member 2							237.0	234.0	235.0					3																	167189421		2203	4300	6503	SO:0001583	missense	5276				cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167189421G>T	AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"""Serine (or cysteine) peptidase inhibitors"""	8945	protein-coding gene	gene with protein product		605587	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2"", ""serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"""	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.202C>A	3.37:g.167189421G>T	ENSP00000420621:p.Gln68Lys					SERPINI2_ENST00000465031.1_5'UTR|SERPINI2_ENST00000461846.1_Missense_Mutation_p.Q68K|SERPINI2_ENST00000264677.4_Missense_Mutation_p.Q68K|SERPINI2_ENST00000471111.1_Missense_Mutation_p.Q68K	p.Q68K			O75830	SPI2_HUMAN			3	500	-			68						Missense_Mutation	SNP	ENST00000476257.1	37	c.202C>A	CCDS3200.1	.	.	.	.	.	.	.	.	.	.	G	3.793	-0.043236	0.07452	.	.	ENSG00000114204	ENST00000476257;ENST00000461846;ENST00000264677;ENST00000471111;ENST00000466903;ENST00000467583	D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	5.7	3.81	0.43845	Serpin domain (3);	0.590783	0.17490	N	0.172386	T	0.60881	0.2303	N	0.05441	-0.05	0.09310	N	1	B;B	0.13145	0.007;0.001	B;B	0.12837	0.008;0.003	T	0.47394	-0.9121	10	0.02654	T	1	.	8.4454	0.32838	0.0814:0.0:0.7649:0.1537	.	68;68	B4DDY9;O75830	.;SPI2_HUMAN	K	68	ENSP00000420621:Q68K;ENSP00000417692:Q68K;ENSP00000264677:Q68K;ENSP00000419407:Q68K;ENSP00000417752:Q68K;ENSP00000419255:Q68K	ENSP00000264677:Q68K	Q	-	1	0	SERPINI2	168672115	0.003000	0.15002	0.837000	0.33122	0.609000	0.37215	0.302000	0.19192	1.428000	0.47296	0.650000	0.86243	CAG		0.388	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1	NM_006217		16	41	1	0	1.5739e-10	1	1.69048e-10	16	41				
ABCB8	11194	broad.mit.edu	37	7	150731831	150731831	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr7:150731831A>T	ENST00000297504.6	+	6	797	c.731A>T	c.(730-732)gAc>gTc	p.D244V	ABCB8_ENST00000542328.1_Missense_Mutation_p.D139V|ABCB8_ENST00000477092.1_Missense_Mutation_p.D227V|ABCB8_ENST00000356058.4_Missense_Mutation_p.D264V|ABCB8_ENST00000498578.1_Missense_Mutation_p.D227V|ABCB8_ENST00000358849.4_Missense_Mutation_p.D227V|ABCB8_ENST00000477719.1_Missense_Mutation_p.D227V			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	244	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	ACCTTCTTTGACGCCAATAAG	0.527																																						ENST00000358849.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(679-681)gAc>gTc		ATP-binding cassette, sub-family B (MDR/TAP), member 8							131.0	109.0	116.0					7																	150731831		2203	4300	6503	SO:0001583	missense	11194					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr7:150731831A>T	AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"""ATP binding cassette transporters / subfamily B"""	49	protein-coding gene	gene with protein product	"""mitochondrial ABC protein"""	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.731A>T	7.37:g.150731831A>T	ENSP00000297504:p.Asp244Val					ABCB8_ENST00000297504.6_Missense_Mutation_p.D244V|ABCB8_ENST00000477092.1_Missense_Mutation_p.D227V|ABCB8_ENST00000542328.1_Missense_Mutation_p.D139V|ABCB8_ENST00000477719.1_Missense_Mutation_p.D227V|ABCB8_ENST00000498578.1_Missense_Mutation_p.D227V|ABCB8_ENST00000356058.4_Missense_Mutation_p.D264V	p.D227V	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	773	+			244			ABC transmembrane type-1.		A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Missense_Mutation	SNP	ENST00000297504.6	37	c.680A>T		.	.	.	.	.	.	.	.	.	.	A	21.0	4.086229	0.76642	.	.	ENSG00000197150	ENST00000358849;ENST00000360651;ENST00000297504;ENST00000542328;ENST00000498578;ENST00000356058;ENST00000477719;ENST00000477092	D;D;D;D;D;D;D	0.91792	-2.91;-2.91;-2.91;-2.91;-1.81;-1.81;-1.81	5.06	5.06	0.68205	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96710	0.8926	M	0.92738	3.34	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.997;0.998;1.0;0.998;0.997;1.0;1.0	D	0.97442	1.0022	10	0.87932	D	0	-0.7872	12.8074	0.57622	1.0:0.0:0.0:0.0	.	139;227;57;244;227;227;264	G3XAP3;A5D8W3;B3KND2;Q9NUT2;Q9NUT2-2;C9JTY4;E7ENE8	.;.;.;ABCB8_HUMAN;.;.;.	V	227;210;244;139;227;264;227;227	ENSP00000351717:D227V;ENSP00000297504:D244V;ENSP00000438776:D139V;ENSP00000418271:D227V;ENSP00000348353:D264V;ENSP00000419891:D227V;ENSP00000419558:D227V	ENSP00000297504:D244V	D	+	2	0	ABCB8	150362764	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	8.938000	0.92943	1.919000	0.55581	0.533000	0.62120	GAC		0.527	ABCB8-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351733.2	NM_007188		35	49	0	0	0	1	0	35	49				
C9orf66	157983	broad.mit.edu	37	9	215080	215080	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr9:215080G>A	ENST00000382387.2	-	1	813	c.317C>T	c.(316-318)aCc>aTc	p.T106I	DOCK8_ENST00000432829.2_Intron|DOCK8_ENST00000453981.1_Intron	NM_152569.2	NP_689782.2	Q5T8R8	CI066_HUMAN	chromosome 9 open reading frame 66	106										central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CCCAGCGCTGGTGTGAAGCGG	0.741																																						ENST00000382387.2																			0				central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4						c.(316-318)aCc>aTc		chromosome 9 open reading frame 66							2.0	3.0	3.0					9																	215080		1468	3316	4784	SO:0001583	missense	157983							g.chr9:215080G>A	AK055720	CCDS6439.1	9p24.3	2008-02-05			ENSG00000183784	ENSG00000183784			26436	protein-coding gene	gene with protein product							Standard	NM_152569		Approved	FLJ31158	uc003zge.4	Q5T8R8	OTTHUMG00000021017	ENST00000382387.2:c.317C>T	9.37:g.215080G>A	ENSP00000371824:p.Thr106Ile					DOCK8_ENST00000432829.2_Intron|DOCK8_ENST00000453981.1_Intron	p.T106I	NM_152569.2	NP_689782.2	Q5T8R8	CI066_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	813	-	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	106					Q96NB0	Missense_Mutation	SNP	ENST00000382387.2	37	c.317C>T	CCDS6439.1	.	.	.	.	.	.	.	.	.	.	g	8.100	0.776392	0.16051	.	.	ENSG00000183784	ENST00000382387	T	0.22539	1.95	2.95	-0.0732	0.13736	.	.	.	.	.	T	0.09335	0.0230	N	0.08118	0	0.09310	N	0.999995	B	0.02656	0.0	B	0.06405	0.002	T	0.29058	-1.0024	9	0.87932	D	0	.	3.5754	0.07933	0.2603:0.21:0.5297:0.0	.	106	Q5T8R8	CI066_HUMAN	I	106	ENSP00000371824:T106I	ENSP00000371824:T106I	T	-	2	0	C9orf66	205080	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.721000	0.00811	-0.328000	0.08539	-0.358000	0.07595	ACC		0.741	C9orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055436.1	NM_152569		5	7	0	0	0	1	0	5	7				
CASS4	57091	broad.mit.edu	37	20	55012466	55012466	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr20:55012466G>C	ENST00000360314.3	+	3	508	c.283G>C	c.(283-285)Gag>Cag	p.E95Q	CASS4_ENST00000371336.3_Missense_Mutation_p.E95Q|CASS4_ENST00000434344.1_Missense_Mutation_p.E95Q	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	95					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						TGCCAGCTCAGAGGAGACCTA	0.662																																						ENST00000371336.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						c.(283-285)Gag>Cag		Cas scaffolding protein family member 4							33.0	37.0	36.0					20																	55012466		2203	4300	6503	SO:0001583	missense	57091				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	g.chr20:55012466G>C	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.283G>C	20.37:g.55012466G>C	ENSP00000353462:p.Glu95Gln					CASS4_ENST00000360314.3_Missense_Mutation_p.E95Q|CASS4_ENST00000434344.1_Missense_Mutation_p.E95Q	p.E95Q	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN			2	484	+			95					E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	ENST00000360314.3	37	c.283G>C	CCDS33492.1	.	.	.	.	.	.	.	.	.	.	G	5.201	0.222664	0.09863	.	.	ENSG00000087589	ENST00000360314;ENST00000371336;ENST00000434344	T;T;T	0.17054	2.88;2.88;2.3	5.57	-0.0864	0.13681	.	0.396976	0.27730	N	0.018087	T	0.07188	0.0182	N	0.05230	-0.09	0.09310	N	0.999999	B;B;B;B	0.16603	0.0;0.018;0.0;0.0	B;B;B;B	0.12156	0.001;0.007;0.002;0.001	T	0.37454	-0.9705	10	0.08599	T	0.76	-9.4147	14.4492	0.67372	0.0727:0.6872:0.2401:0.0	.	95;95;95;95	B4DII4;Q9NQ75-3;Q9NQ75-2;Q9NQ75	.;.;.;CASS4_HUMAN	Q	95	ENSP00000353462:E95Q;ENSP00000360387:E95Q;ENSP00000410027:E95Q	ENSP00000353462:E95Q	E	+	1	0	CASS4	54445873	0.026000	0.19158	0.013000	0.15412	0.390000	0.30446	0.762000	0.26503	0.041000	0.15688	-0.122000	0.15005	GAG		0.662	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		28	63	0	0	0	1	0	28	63				
ZNF556	80032	broad.mit.edu	37	19	2877960	2877960	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr19:2877960G>C	ENST00000307635.2	+	4	1091	c.1004G>C	c.(1003-1005)aGa>aCa	p.R335T	ZNF556_ENST00000586426.1_Missense_Mutation_p.R334T	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	335					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAACACGCGAGAACGCATGCT	0.502																																						ENST00000586426.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31						c.(1000-1002)aGa>aCa		zinc finger protein 556							43.0	41.0	42.0					19																	2877960		2203	4300	6503	SO:0001583	missense	80032				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2877960G>C	BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"""Zinc fingers, C2H2-type"", ""-"""	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.1004G>C	19.37:g.2877960G>C	ENSP00000302603:p.Arg335Thr					ZNF556_ENST00000307635.2_Missense_Mutation_p.R335T	p.R334T			Q9HAH1	ZN556_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1088	+			335					Q96GM3	Missense_Mutation	SNP	ENST00000307635.2	37	c.1001G>C	CCDS12097.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.638537	0.29157	.	.	ENSG00000172000	ENST00000307635	T	0.33216	1.42	2.13	-0.282	0.12878	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24736	0.0600	N	0.08118	0	0.23336	N	0.997888	D	0.69078	0.997	P	0.58577	0.841	T	0.15607	-1.0431	9	0.66056	D	0.02	.	5.937	0.19171	0.321:0.0:0.679:0.0	.	335	Q9HAH1	ZN556_HUMAN	T	335	ENSP00000302603:R335T	ENSP00000302603:R335T	R	+	2	0	ZNF556	2828960	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-0.505000	0.06367	0.102000	0.17638	0.407000	0.27541	AGA		0.502	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967		17	46	0	0	0	1	0	17	46				
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A	rs369590722		TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1				BMS1 pseudogene 20																		AAATTTGAAGGTGCTGTGATT	0.448																																						ENST00000426066.1																			0																																																			96610							g.chr22:22664141G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664141G>A								NR_027293.1						0	664	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.448	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	67	0	0	0	1	0	5	67				
FANCG	2189	broad.mit.edu	37	9	35075012	35075012	+	Silent	SNP	G	G	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr9:35075012G>C	ENST00000378643.3	-	12	2039	c.1548C>G	c.(1546-1548)gcC>gcG	p.A516A	FANCG_ENST00000476212.1_Intron|VCP_ENST00000358901.6_5'Flank	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	516					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|mitochondrion organization (GO:0007005)|ovarian follicle development (GO:0001541)|response to radiation (GO:0009314)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	damaged DNA binding (GO:0003684)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GACTAATTAGGGCGGCTGCCC	0.547			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks																														ENST00000378643.3			yes	Rec		Fanconi anaemia G	9	9p13	2189	"""Mis, N, F, S"""	"""Fanconi anemia, complementation group G"""			L		"""AML, leukemia"""			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28						c.(1546-1548)gcC>gcG	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group G							99.0	93.0	95.0					9																	35075012		2203	4300	6503	SO:0001819	synonymous_variant	2189				cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding	g.chr9:35075012G>C	AJ007669	CCDS6574.1	9p13	2014-09-17			ENSG00000221829	ENSG00000221829		"""Fanconi anemia, complementation groups"""	3588	protein-coding gene	gene with protein product	"""DNA repair protein XRCC9"", ""X-ray repair, complementing defective, in Chinese hamster, 9"", ""X-ray repair complementing defective repair in Chinese hamster cells 9"""	602956		XRCC9		9256465, 9382107	Standard	NM_004629		Approved	FAG	uc003zwb.1	O15287	OTTHUMG00000019850	ENST00000378643.3:c.1548C>G	9.37:g.35075012G>C						FANCG_ENST00000476212.1_Intron	p.A516A	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		12	2039	-			516						Silent	SNP	ENST00000378643.3	37	c.1548C>G	CCDS6574.1																																																																																				0.547	FANCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052269.1	NM_004629		121	47	0	0	0	1	0	121	47				
ZNF516	9658	broad.mit.edu	37	18	74092152	74092152	+	Missense_Mutation	SNP	C	C	T	rs559748313		TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr18:74092152C>T	ENST00000443185.2	-	4	2235	c.1918G>A	c.(1918-1920)Ggc>Agc	p.G640S	RP11-504I13.3_ENST00000583287.1_RNA|ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	640					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TTGGACTCGCCGGTGTCTCTT	0.537													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19358	0.0		0.0	False		,,,				2504	0.0					ENST00000443185.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1918-1920)Ggc>Agc		zinc finger protein 516							88.0	92.0	91.0					18																	74092152		1983	4153	6136	SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74092152C>T	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.1918G>A	18.37:g.74092152C>T	ENSP00000394757:p.Gly640Ser					ZNF516_ENST00000524431.2_5'UTR	p.G640S	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	4	2235	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	640						Missense_Mutation	SNP	ENST00000443185.2	37	c.1918G>A		.	.	.	.	.	.	.	.	.	.	C	0.742	-0.776064	0.02951	.	.	ENSG00000101493	ENST00000443185	T	0.08282	3.11	3.94	-7.87	0.01183	.	2.916520	0.01797	N	0.032668	T	0.02571	0.0078	.	.	.	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.36578	-0.9742	9	0.02654	T	1	-19.2071	5.6646	0.17689	0.1052:0.0992:0.1057:0.6899	.	640	Q92618	ZN516_HUMAN	S	640	ENSP00000394757:G640S	ENSP00000394757:G640S	G	-	1	0	ZNF516	72221140	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.223000	0.09177	-1.996000	0.00970	-0.781000	0.03364	GGC		0.537	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		91	51	0	0	0	1	0	91	51				
PIGS	94005	broad.mit.edu	37	17	26881880	26881880	+	Missense_Mutation	SNP	C	C	T	rs114925145		TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr17:26881880C>T	ENST00000308360.7	-	11	1756	c.1381G>A	c.(1381-1383)Gtg>Atg	p.V461M	UNC119_ENST00000335765.4_5'Flank|PIGS_ENST00000395346.2_Missense_Mutation_p.V453M|UNC119_ENST00000301032.4_5'Flank|PIGS_ENST00000543734.1_Missense_Mutation_p.V400M	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	461					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					TCAGATGCCACGTCGTCCTTA	0.592																																						ENST00000308360.7																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1381-1383)Gtg>Atg		phosphatidylinositol glycan anchor biosynthesis, class S							109.0	91.0	97.0					17																	26881880		2203	4300	6503	SO:0001583	missense	94005				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr17:26881880C>T		CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"""Phosphatidylinositol glycan anchor biosynthesis"""	14937	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610271	"""phosphatidylinositol glycan, class S"""				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.1381G>A	17.37:g.26881880C>T	ENSP00000309430:p.Val461Met					PIGS_ENST00000543734.1_Missense_Mutation_p.V400M|PIGS_ENST00000395346.2_Missense_Mutation_p.V453M	p.V461M	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN			11	1756	-	Lung NSC(42;0.00431)		461					Q6UVX6	Missense_Mutation	SNP	ENST00000308360.7	37	c.1381G>A	CCDS11235.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313114	0.60414	.	.	ENSG00000087111	ENST00000395346;ENST00000308360;ENST00000543734	T;T;T	0.62105	0.05;0.05;0.05	5.42	5.42	0.78866	.	0.056928	0.64402	D	0.000001	T	0.81702	0.4878	M	0.83774	2.66	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.987	D	0.84252	0.0478	10	0.87932	D	0	-19.578	19.2197	0.93791	0.0:1.0:0.0:0.0	.	461;453	Q96S52;Q96S52-2	PIGS_HUMAN;.	M	453;461;400	ENSP00000378755:V453M;ENSP00000309430:V461M;ENSP00000438447:V400M	ENSP00000309430:V461M	V	-	1	0	PIGS	23906007	1.000000	0.71417	1.000000	0.80357	0.358000	0.29455	5.393000	0.66279	2.538000	0.85594	0.462000	0.41574	GTG		0.592	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255833.3	NM_033198		22	82	0	0	0	1	0	22	82				
AMFR	267	broad.mit.edu	37	16	56419833	56419833	+	Missense_Mutation	SNP	T	T	C	rs370219059		TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr16:56419833T>C	ENST00000290649.5	-	10	1588	c.1378A>G	c.(1378-1380)Atg>Gtg	p.M460V		NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	460	CUE. {ECO:0000255|PROSITE- ProRule:PRU00468}.				aging (GO:0007568)|cellular component movement (GO:0006928)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|learning or memory (GO:0007611)|protein oligomerization (GO:0051259)|protein polyubiquitination (GO:0000209)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)	dendrite (GO:0030425)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	ligase activity (GO:0016874)|receptor activity (GO:0004872)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						GACCTTACCATTGCATTGAGC	0.502																																					Pancreas(2;144 323 39528)	ENST00000290649.5																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1378-1380)Atg>Gtg		autocrine motility factor receptor, E3 ubiquitin protein ligase		T	VAL/MET	0,4396		0,0,2198	74.0	59.0	64.0		1378	5.4	0.9	16		64	1,8599	1.2+/-3.3	0,1,4299	no	missense	AMFR	NM_001144.4	21	0,1,6497	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	460/644	56419833	1,12995	2198	4300	6498	SO:0001583	missense	267				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:56419833T>C	L35233	CCDS10758.1	16q21	2013-01-09	2012-02-23		ENSG00000159461	ENSG00000159461		"""RING-type (C3HC4) zinc fingers"""	463	protein-coding gene	gene with protein product		603243	"""autocrine motility factor receptor"""			1649192	Standard	NM_001144		Approved	RNF45, gp78	uc002eiy.4	Q9UKV5	OTTHUMG00000133239	ENST00000290649.5:c.1378A>G	16.37:g.56419833T>C	ENSP00000290649:p.Met460Val						p.M460V	NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN			10	1588	-			460			CUE.		P26442|Q8IZ70	Missense_Mutation	SNP	ENST00000290649.5	37	c.1378A>G	CCDS10758.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.238689	0.79800	0.0	1.16E-4	ENSG00000159461	ENST00000290649	T	0.18502	2.21	5.39	5.39	0.77823	Ubiquitin system component Cue (3);	0.000000	0.85682	D	0.000000	T	0.49253	0.1546	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	0.987;1.0	D;D	0.87578	0.963;0.998	T	0.59075	-0.7522	10	0.72032	D	0.01	-27.4039	15.404	0.74863	0.0:0.0:0.0:1.0	.	460;109	Q9UKV5;Q1RN03	AMFR2_HUMAN;.	V	460	ENSP00000290649:M460V	ENSP00000290649:M460V	M	-	1	0	AMFR	54977334	1.000000	0.71417	0.912000	0.35992	0.907000	0.53573	8.008000	0.88588	2.041000	0.60428	0.454000	0.30748	ATG		0.502	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256978.2			7	13	0	0	0	1	0	7	13				
FMN2	56776	broad.mit.edu	37	1	240256594	240256594	+	Silent	SNP	T	T	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr1:240256594T>C	ENST00000319653.9	+	1	1415	c.1185T>C	c.(1183-1185)gcT>gcC	p.A395A		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	395					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCGCGGCCGCTTCCCTGCCCG	0.726																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(1183-1185)gcT>gcC		formin 2							20.0	27.0	24.0					1																	240256594		2198	4292	6490	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240256594T>C	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1185T>C	1.37:g.240256594T>C							p.A395A	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	1415	+	Ovarian(103;0.127)	all_cancers(173;0.013)	395					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.1185T>C	CCDS31069.2																																																																																				0.726	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		22	74	0	0	0	1	0	22	74				
TMEM108	66000	broad.mit.edu	37	3	133099441	133099441	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr3:133099441G>T	ENST00000321871.6	+	4	1096	c.886G>T	c.(886-888)Ggg>Tgg	p.G296W	TMEM108_ENST00000393130.3_Missense_Mutation_p.G296W|TMEM108_ENST00000515826.1_Missense_Mutation_p.G296W|TMEM108_ENST00000508711.1_Intron	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	296						integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CAGCCAAGGAGGGACACCAGA	0.662																																						ENST00000515826.1																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(886-888)Ggg>Tgg		transmembrane protein 108							42.0	40.0	41.0					3																	133099441		2203	4299	6502	SO:0001583	missense	66000					integral to membrane		g.chr3:133099441G>T	AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"""cancer/testis antigen 124"""					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.886G>T	3.37:g.133099441G>T	ENSP00000324651:p.Gly296Trp					TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Missense_Mutation_p.G296W|TMEM108_ENST00000321871.6_Missense_Mutation_p.G296W	p.G296W			Q6UXF1	TM108_HUMAN			3	1009	+			296					D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	ENST00000321871.6	37	c.886G>T	CCDS33858.1	.	.	.	.	.	.	.	.	.	.	G	8.039	0.763422	0.15914	.	.	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000515826	T;T;T	0.52526	0.72;0.72;0.66	4.18	-0.0904	0.13665	.	0.773939	0.11090	N	0.600855	T	0.55386	0.1917	L	0.51422	1.61	0.19575	N	0.999968	D;D	0.65815	0.995;0.961	D;P	0.64321	0.924;0.631	T	0.45659	-0.9246	10	0.56958	D	0.05	0.0713	7.6355	0.28264	0.18:0.4718:0.3483:0.0	.	296;296	E9PB58;Q6UXF1	.;TM108_HUMAN	W	296	ENSP00000324651:G296W;ENSP00000376838:G296W;ENSP00000423338:G296W	ENSP00000324651:G296W	G	+	1	0	TMEM108	134582131	0.979000	0.34478	0.256000	0.24389	0.099000	0.18886	0.622000	0.24433	-0.002000	0.14469	0.561000	0.74099	GGG		0.662	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356907.2	NM_023943		17	63	1	0	1.45105e-14	1	1.63103e-14	17	63				
KCTD20	222658	broad.mit.edu	37	6	36454708	36454708	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr6:36454708C>T	ENST00000373731.2	+	8	1407	c.1016C>T	c.(1015-1017)tCt>tTt	p.S339F	KCTD20_ENST00000449081.2_Missense_Mutation_p.S173F|KCTD20_ENST00000544295.1_Missense_Mutation_p.S93F|KCTD20_ENST00000474988.1_3'UTR|KCTD20_ENST00000536244.1_Missense_Mutation_p.S194F	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	339					protein homooligomerization (GO:0051260)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						GGCGGCCGGTCTGAAGTCATC	0.453																																						ENST00000373731.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						c.(1015-1017)tCt>tTt		potassium channel tetramerization domain containing 20							79.0	87.0	84.0					6																	36454708		2203	4300	6503	SO:0001583	missense	222658					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr6:36454708C>T	BC023525	CCDS4821.1, CCDS69096.1, CCDS69097.1	6p21.31	2013-06-20	2013-06-20	2006-06-26	ENSG00000112078	ENSG00000112078			21052	protein-coding gene	gene with protein product		615932	"""chromosome 6 open reading frame 69"", ""potassium channel tetramerisation domain containing 20"""	C6orf69			Standard	NM_001286580		Approved	dJ108K11.3, MGC14254	uc003ome.3	Q7Z5Y7	OTTHUMG00000014597	ENST00000373731.2:c.1016C>T	6.37:g.36454708C>T	ENSP00000362836:p.Ser339Phe					KCTD20_ENST00000449081.2_Missense_Mutation_p.S173F|KCTD20_ENST00000544295.1_Missense_Mutation_p.S93F|KCTD20_ENST00000536244.1_Missense_Mutation_p.S194F|KCTD20_ENST00000474988.1_3'UTR	p.S339F	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN			8	1407	+			339					B4DZD3|B4E2Q3|F5H3T3|Q5W105|Q69YQ7|Q8IZ55	Missense_Mutation	SNP	ENST00000373731.2	37	c.1016C>T	CCDS4821.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.966385	0.92855	.	.	ENSG00000112078	ENST00000373731;ENST00000544295;ENST00000449081;ENST00000536244	T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.84543	0.5495	L	0.43152	1.355	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.68192	0.914;0.956	D	0.84354	0.0534	10	0.56958	D	0.05	-20.7121	20.1551	0.98106	0.0:1.0:0.0:0.0	.	173;339	Q7Z5Y7-2;Q7Z5Y7	.;KCD20_HUMAN	F	339;93;173;194	ENSP00000362836:S339F;ENSP00000440150:S93F;ENSP00000412205:S173F;ENSP00000439118:S194F	ENSP00000362836:S339F	S	+	2	0	KCTD20	36562686	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.818000	0.86416	2.760000	0.94817	0.655000	0.94253	TCT		0.453	KCTD20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040345.2	NM_173562		31	85	0	0	0	1	0	31	85				
TLR10	81793	broad.mit.edu	37	4	38776690	38776690	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr4:38776690G>C	ENST00000308973.4	-	4	1127	c.522C>G	c.(520-522)ttC>ttG	p.F174L	TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000361424.2_Missense_Mutation_p.F174L|TLR10_ENST00000506111.1_Missense_Mutation_p.F174L|TLR10_ENST00000508334.1_Missense_Mutation_p.F174L	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	174					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GAAGAGTTCTGAATCCTAAGA	0.383																																						ENST00000308973.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						c.(520-522)ttC>ttG		toll-like receptor 10							69.0	71.0	70.0					4																	38776690		2203	4300	6503	SO:0001583	missense	81793				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity	g.chr4:38776690G>C	AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.522C>G	4.37:g.38776690G>C	ENSP00000308925:p.Phe174Leu					TLR10_ENST00000508334.1_Missense_Mutation_p.F174L|TLR10_ENST00000361424.2_Missense_Mutation_p.F174L|TLR10_ENST00000506111.1_Missense_Mutation_p.F174L	p.F174L	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN			4	1127	-			174					A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	SNP	ENST00000308973.4	37	c.522C>G	CCDS3445.1	.	.	.	.	.	.	.	.	.	.	G	0.030	-1.340263	0.01277	.	.	ENSG00000174123	ENST00000308973;ENST00000506111;ENST00000361424;ENST00000508334	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	5.23	2.1	0.27182	.	0.343144	0.20015	N	0.101037	T	0.35770	0.0943	N	0.00041	-2.485	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.54289	-0.8316	10	0.02654	T	1	.	4.3511	0.11157	0.0:0.442:0.1868:0.3712	.	174	Q9BXR5	TLR10_HUMAN	L	174	ENSP00000308925:F174L;ENSP00000421483:F174L;ENSP00000354459:F174L;ENSP00000424923:F174L	ENSP00000308925:F174L	F	-	3	2	TLR10	38453085	0.000000	0.05858	0.942000	0.38095	0.904000	0.53231	-0.818000	0.04467	0.594000	0.29761	-0.165000	0.13383	TTC		0.383	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1			14	30	0	0	0	1	0	14	30				
WASH3P	374666	broad.mit.edu	37	15	102516652	102516652	+	RNA	SNP	C	C	T	rs71252255	byFrequency	TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr15:102516652C>T	ENST00000557932.1	+	0	1600				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						GCGGGGACTTCTGTCTGCCTG	0.592																																						ENST00000557932.1																			0				central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														374666							g.chr15:102516652C>T			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102516652C>T														0	1600	+									RNA	SNP	ENST00000557932.1	37																																																																																						0.592	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		4	26	0	0	0	1	0	4	26				
LRP1B	53353	broad.mit.edu	37	2	141533765	141533765	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr2:141533765C>A	ENST00000389484.3	-	33	6373	c.5402G>T	c.(5401-5403)gGa>gTa	p.G1801V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1801					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCTGCAGGTTCCTAGCTGGGC	0.368										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(5401-5403)gGa>gTa		low density lipoprotein receptor-related protein 1B							123.0	118.0	119.0					2																	141533765		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141533765C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5402G>T	2.37:g.141533765C>A	ENSP00000374135:p.Gly1801Val	TSP Lung(27;0.18)					p.G1801V	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	33	6373	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1801					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.5402G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.161693	0.78226	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90504	-2.68	5.69	5.69	0.88448	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.92851	0.7726	L	0.37466	1.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90322	0.4345	10	0.23302	T	0.38	.	19.8051	0.96529	0.0:1.0:0.0:0.0	.	1801	Q9NZR2	LRP1B_HUMAN	V	1801;1739	ENSP00000374135:G1801V	ENSP00000374135:G1801V	G	-	2	0	LRP1B	141250235	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.692000	0.84203	2.702000	0.92279	0.591000	0.81541	GGA		0.368	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		8	32	1	0	3.09899e-07	1	3.27995e-07	8	32				
CC2D1A	54862	broad.mit.edu	37	19	14031662	14031662	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr19:14031662A>G	ENST00000318003.7	+	14	1809	c.1568A>G	c.(1567-1569)cAc>cGc	p.H523R	CC2D1A_ENST00000589606.1_Missense_Mutation_p.H523R	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	523					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|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)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GCCAAGATGCACCTGCGCCAA	0.627																																						ENST00000318003.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27						c.(1567-1569)cAc>cGc		coiled-coil and C2 domain containing 1A							75.0	83.0	80.0					19																	14031662		2085	4214	6299	SO:0001583	missense	54862				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	g.chr19:14031662A>G	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.1568A>G	19.37:g.14031662A>G	ENSP00000313601:p.His523Arg					CC2D1A_ENST00000589606.1_Missense_Mutation_p.H523R	p.H523R	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		14	1809	+			523					Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	ENST00000318003.7	37	c.1568A>G	CCDS42512.1	.	.	.	.	.	.	.	.	.	.	A	15.27	2.783513	0.49891	.	.	ENSG00000132024	ENST00000318003;ENST00000254346;ENST00000397486	T	0.26067	1.76	5.49	4.45	0.53987	Domain of unknown function DM14 (1);	0.234949	0.44097	D	0.000490	T	0.31071	0.0785	M	0.61703	1.905	0.40678	D	0.982276	D;P;D	0.62365	0.966;0.919;0.991	P;P;P	0.50490	0.61;0.616;0.642	T	0.06303	-1.0834	10	0.27785	T	0.31	-26.8405	7.8761	0.29595	0.6337:0.0:0.0:0.3663	.	145;523;523	Q9NX28;Q6P1N0-2;Q6P1N0	.;.;C2D1A_HUMAN	R	523;146;277	ENSP00000313601:H523R	ENSP00000254346:H146R	H	+	2	0	CC2D1A	13892662	0.046000	0.20272	1.000000	0.80357	0.742000	0.42306	0.549000	0.23329	2.081000	0.62600	0.459000	0.35465	CAC		0.627	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		42	108	0	0	0	1	0	42	108				
CHRNA7	1139	broad.mit.edu	37	15	32460294	32460294	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr15:32460294G>A	ENST00000306901.3	+	10	1241	c.1144G>A	c.(1144-1146)Ggg>Agg	p.G382R	CHRNA7_ENST00000454250.3_Missense_Mutation_p.G411R|CHRNA7_ENST00000455693.2_Missense_Mutation_p.G201R	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	382					activation of MAPK activity (GO:0000187)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to ethanol (GO:0048149)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular calcium ion homeostasis (GO:0006874)|cognition (GO:0050890)|dopamine biosynthetic process (GO:0042416)|endocytosis (GO:0006897)|generation of ovulation cycle rhythm (GO:0060112)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|memory (GO:0007613)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of tumor necrosis factor production (GO:0032720)|neuronal action potential (GO:0019228)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate involved in baroreceptor response to decreased systemic arterial blood pressure (GO:0001988)|regulation of norepinephrine secretion (GO:0014061)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to food (GO:0032094)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|T cell activation (GO:0042110)	acetylcholine-gated channel complex (GO:0005892)|apical plasma membrane (GO:0016324)|asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|external side of plasma membrane (GO:0009897)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|acetylcholine-gated cation channel activity (GO:0022848)|beta-amyloid binding (GO:0001540)|chloride channel regulator activity (GO:0017081)|drug binding (GO:0008144)|protein homodimerization activity (GO:0042803)|toxic substance binding (GO:0015643)			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	CGCCAGCAACGGGAACCTGCT	0.721																																					Esophageal Squamous(193;529 2900 40232 43193)	ENST00000306901.3																			0				endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12						c.(1144-1146)Ggg>Agg		cholinergic receptor, nicotinic, alpha 7 (neuronal)	Nicotine(DB00184)|Varenicline(DB01273)						13.0	18.0	16.0					15																	32460294		2124	4224	6348	SO:0001583	missense	1139				activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding	g.chr15:32460294G>A	Z23141	CCDS10027.1, CCDS53924.1	15q13.3	2012-02-11	2012-02-07		ENSG00000175344	ENSG00000175344		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1960	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 7 (neuronal)"""	118511	"""cholinergic receptor, nicotinic, alpha polypeptide 7"""			8188270	Standard	NM_001190455		Approved		uc021sic.2	P36544	OTTHUMG00000129285	ENST00000306901.3:c.1144G>A	15.37:g.32460294G>A	ENSP00000303727:p.Gly382Arg					CHRNA7_ENST00000455693.2_Missense_Mutation_p.G201R|CHRNA7_ENST00000454250.3_Missense_Mutation_p.G411R	p.G382R	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	10	1241	+		all_lung(180;6.35e-11)	382					A8K7Q4|B4DFS0|Q15826|Q8IUZ4|Q96RH2|Q99555|Q9BXH0	Missense_Mutation	SNP	ENST00000306901.3	37	c.1144G>A	CCDS10027.1	.	.	.	.	.	.	.	.	.	.	g	17.99	3.523115	0.64747	.	.	ENSG00000175344	ENST00000437966;ENST00000454250;ENST00000306901;ENST00000455693	T;T;T	0.19250	2.16;2.16;2.16	3.84	3.84	0.44239	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.542116	0.20791	N	0.085615	T	0.37320	0.0999	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.04115	-1.0976	10	0.13853	T	0.58	.	14.0826	0.64934	0.0:0.0:1.0:0.0	.	411;382	B4DFS0;P36544	.;ACHA7_HUMAN	R	292;411;382;201	ENSP00000407546:G411R;ENSP00000303727:G382R;ENSP00000405989:G201R	ENSP00000303727:G382R	G	+	1	0	CHRNA7	30247586	1.000000	0.71417	0.856000	0.33681	0.532000	0.34746	9.089000	0.94137	2.434000	0.82447	0.650000	0.86243	GGG		0.721	CHRNA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251410.2			10	56	0	0	0	1	0	10	56				
PDE8B	8622	broad.mit.edu	37	5	76703264	76703264	+	Silent	SNP	C	C	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr5:76703264C>T	ENST00000264917.5	+	13	1392	c.1347C>T	c.(1345-1347)atC>atT	p.I449I	PDE8B_ENST00000333194.4_Silent_p.I449I|PDE8B_ENST00000340978.3_Silent_p.I402I|PDE8B_ENST00000505283.1_5'Flank|PDE8B_ENST00000342343.4_Silent_p.I429I|PDE8B_ENST00000346042.3_Silent_p.I352I	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	449					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	CCATGACCATCGAGGCTCCCA	0.582																																						ENST00000264917.5																		GMDS/PDE8B(2)	0				NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40						c.(1345-1347)atC>atT		phosphodiesterase 8B							131.0	89.0	103.0					5																	76703264		2203	4300	6503	SO:0001819	synonymous_variant	8622				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76703264C>T	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.1347C>T	5.37:g.76703264C>T						PDE8B_ENST00000340978.3_Silent_p.I402I|PDE8B_ENST00000333194.4_Silent_p.I449I|PDE8B_ENST00000346042.3_Silent_p.I352I|PDE8B_ENST00000342343.4_Silent_p.I429I	p.I449I	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	13	1392	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)	449					Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Silent	SNP	ENST00000264917.5	37	c.1347C>T	CCDS4037.1																																																																																				0.582	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		56	64	0	0	0	1	0	56	64				
CCDC70	83446	broad.mit.edu	37	13	52439891	52439891	+	Missense_Mutation	SNP	G	G	A	rs61730661	byFrequency	TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr13:52439891G>A	ENST00000242819.4	+	2	673	c.377G>A	c.(376-378)cGc>cAc	p.R126H		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	126			R -> C (in dbSNP:rs17076052).			extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.R126H(1)		breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		AAAAAGTACCGCACTTTCTGG	0.468																																						ENST00000242819.4																			1	Substitution - Missense(1)	p.R126H(1)	large_intestine(1)	breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15						c.(376-378)cGc>cAc		coiled-coil domain containing 70		G	HIS/ARG	5,4401	9.9+/-24.2	0,5,2198	113.0	127.0	122.0		377	-0.9	0.0	13	dbSNP_129	122	0,8600		0,0,4300	no	missense	CCDC70	NM_031290.2	29	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	probably-damaging	126/234	52439891	5,13001	2203	4300	6503	SO:0001583	missense	83446					extracellular region|plasma membrane		g.chr13:52439891G>A		CCDS9431.1	13q14.3	2006-02-07			ENSG00000123171	ENSG00000123171			25303	protein-coding gene	gene with protein product						11230166	Standard	NM_031290		Approved	DKFZP434K1172, FLJ25853	uc001vfu.4	Q6NSX1	OTTHUMG00000016950	ENST00000242819.4:c.377G>A	13.37:g.52439891G>A	ENSP00000242819:p.Arg126His						p.R126H	NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN		GBM - Glioblastoma multiforme(99;2.4e-08)	2	673	+		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)	126		R -> C (in dbSNP:rs17076052).			Q8N7A8|Q9H097	Missense_Mutation	SNP	ENST00000242819.4	37	c.377G>A	CCDS9431.1	.	.	.	.	.	.	.	.	.	.	G	5.578	0.291406	0.10567	0.001135	0.0	ENSG00000123171	ENST00000242819	T	0.22134	1.97	5.93	-0.939	0.10408	.	0.271361	0.25723	N	0.028737	T	0.20981	0.0505	M	0.65975	2.015	0.09310	N	1	B	0.16396	0.017	B	0.08055	0.003	T	0.26189	-1.0110	10	0.62326	D	0.03	-18.1723	11.2544	0.49045	0.5645:0.0:0.4355:0.0	rs61730661	126	Q6NSX1	CCD70_HUMAN	H	126	ENSP00000242819:R126H	ENSP00000242819:R126H	R	+	2	0	CCDC70	51337892	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.578000	0.23773	-0.269000	0.09298	-0.768000	0.03414	CGC		0.468	CCDC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045033.2	NM_031290		74	58	0	0	0	1	0	74	58				
OSBPL5	114879	broad.mit.edu	37	11	3140861	3140861	+	Splice_Site	SNP	C	C	G			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr11:3140861C>G	ENST00000263650.7	-	7	766	c.607G>C	c.(607-609)Ggc>Cgc	p.G203R	OSBPL5_ENST00000389989.3_Splice_Site_p.G135R|OSBPL5_ENST00000525498.1_Splice_Site_p.G114R|OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000348039.5_Splice_Site_p.G135R	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	203	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCTTTGGGGCCCTGGAGAGAG	0.632																																						ENST00000263650.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25						c.e7-1		oxysterol binding protein-like 5							69.0	65.0	67.0					11																	3140861		2202	4298	6500	SO:0001630	splice_region_variant	114879				cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding	g.chr11:3140861C>G	AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.607-1G>C	11.37:g.3140861C>G						OSBPL5_ENST00000525498.1_Splice_Site_p.G114_splice|OSBPL5_ENST00000389989.3_Splice_Site_p.G135_splice|OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000348039.5_Splice_Site_p.G135_splice	p.G203_splice	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	7	766	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	203			PH.		A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Splice_Site	SNP	ENST00000263650.7	37	c.606_splice	CCDS31344.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.741440	0.89573	.	.	ENSG00000021762	ENST00000263650;ENST00000389989;ENST00000525498;ENST00000348039	T;T;T;T	0.58506	0.33;0.41;2.71;0.41	4.23	4.23	0.50019	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.168985	0.40554	N	0.001080	T	0.76528	0.4000	M	0.79123	2.44	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.81141	-0.1068	10	0.87932	D	0	-12.114	16.8069	0.85708	0.0:1.0:0.0:0.0	.	114;164;135;203	B4DVB0;E7EP03;Q8N596;Q9H0X9	.;.;.;OSBL5_HUMAN	R	203;135;114;135	ENSP00000263650:G203R;ENSP00000374639:G135R;ENSP00000433342:G114R;ENSP00000302872:G135R	ENSP00000263650:G203R	G	-	1	0	OSBPL5	3097437	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.073000	0.76784	2.198000	0.70561	0.561000	0.74099	GGC		0.632	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032332.2		Missense_Mutation	24	30	0	0	0	1	0	24	30				
DMD	1756	broad.mit.edu	37	X	31196907	31196907	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chrX:31196907C>T	ENST00000357033.4	-	70	10308	c.10102G>A	c.(10102-10104)Gat>Aat	p.D3368N	DMD_ENST00000378702.4_Missense_Mutation_p.D300N|DMD_ENST00000378707.3_Missense_Mutation_p.D908N|DMD_ENST00000378680.2_Missense_Mutation_p.D300N|DMD_ENST00000343523.2_Missense_Mutation_p.D908N|DMD_ENST00000541735.1_Missense_Mutation_p.D908N|DMD_ENST00000378677.2_Missense_Mutation_p.D3364N|DMD_ENST00000474231.1_Missense_Mutation_p.D908N|DMD_ENST00000378723.3_Missense_Mutation_p.D300N|DMD_ENST00000361471.4_Missense_Mutation_p.D300N|DMD_ENST00000359836.1_Missense_Mutation_p.D908N	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3368	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCTCGAACATCTTCTCCTGAT	0.438																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77	GRCh37	CM070895	DMD	M		c.(10102-10104)Gat>Aat		dystrophin							109.0	97.0	101.0					X																	31196907		2202	4299	6501	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31196907C>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.10102G>A	X.37:g.31196907C>T	ENSP00000354923:p.Asp3368Asn					DMD_ENST00000378677.2_Missense_Mutation_p.D3364N|DMD_ENST00000378702.4_Missense_Mutation_p.D300N|DMD_ENST00000378707.3_Missense_Mutation_p.D908N|DMD_ENST00000378723.3_Missense_Mutation_p.D300N|DMD_ENST00000541735.1_Missense_Mutation_p.D908N|DMD_ENST00000378680.2_Missense_Mutation_p.D300N|DMD_ENST00000359836.1_Missense_Mutation_p.D908N|DMD_ENST00000361471.4_Missense_Mutation_p.D300N|DMD_ENST00000474231.1_Missense_Mutation_p.D908N|DMD_ENST00000343523.2_Missense_Mutation_p.D908N	p.D3368N	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			70	10308	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	3368			Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.10102G>A	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.1|29.1	4.981406|4.981406	0.93044|0.93044	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000378702;ENST00000474231;ENST00000361471;ENST00000378680;ENST00000378705|ENST00000465285	D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.89875|.	-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.000000|.	0.38164|.	U|.	0.001785|.	T|T	0.72326|0.72326	0.3446|0.3446	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	D;P;P;D;P;P;P;P;P;D;D;P;B;D;P;B|.	0.89917|.	0.993;0.508;0.89;1.0;0.799;0.799;0.843;0.568;0.568;0.991;0.995;0.68;0.277;0.971;0.484;0.361|.	D;P;B;D;B;B;P;B;B;P;P;P;B;P;B;B|.	0.83275|.	0.956;0.75;0.343;0.996;0.343;0.343;0.596;0.265;0.196;0.787;0.894;0.535;0.157;0.753;0.309;0.118|.	T|T	0.69844|0.69844	-0.5035|-0.5035	10|5	0.37606|.	T|.	0.19|.	.|.	18.3469|18.3469	0.90325|0.90325	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	300;3360;3368;3364;2027;2024;908;908;908;908;908;3245;300;300;300;300|.	B4DSV7;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3;P11532-5;Q8N754;Q6NSJ9;E9PDN1|.	.;.;DMD_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.|.	N|K	3360;2027;2024;300;1064;3364;3368;908;908;3368;3245;908;908;300;908;300;300;158|1096	ENSP00000367997:D300N;ENSP00000350765:D1064N;ENSP00000367948:D3364N;ENSP00000354923:D3368N;ENSP00000352894:D908N;ENSP00000340057:D908N;ENSP00000367979:D908N;ENSP00000444119:D908N;ENSP00000367974:D300N;ENSP00000417123:D908N;ENSP00000354464:D300N;ENSP00000367951:D300N;ENSP00000367977:D158N|.	ENSP00000340057:D908N|.	D|R	-|-	1|2	0|0	DMD|DMD	31106828|31106828	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.541000|5.541000	0.67212|0.67212	2.527000|2.527000	0.85204|0.85204	0.600000|0.600000	0.82982|0.82982	GAT|AGA		0.438	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		17	18	0	0	0	1	0	17	18				
SPEF2	79925	broad.mit.edu	37	5	35709194	35709194	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr5:35709194C>A	ENST00000356031.3	+	19	2964	c.2810C>A	c.(2809-2811)aCt>aAt	p.T937N	SPEF2_ENST00000440995.2_Missense_Mutation_p.T932N|SPEF2_ENST00000509059.1_Missense_Mutation_p.T932N|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	937					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCTTCAAAAACTCCTACTGCA	0.388																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(2794-2796)aCt>aAt		sperm flagellar 2							92.0	89.0	90.0					5																	35709194		1850	4092	5942	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35709194C>A	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.2810C>A	5.37:g.35709194C>A	ENSP00000348314:p.Thr937Asn					SPEF2_ENST00000509059.1_Missense_Mutation_p.T932N|SPEF2_ENST00000356031.3_Missense_Mutation_p.T937N|CTD-2113L7.1_ENST00000510433.1_RNA	p.T932N			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		19	2795	+	all_lung(31;7.56e-05)		937					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.2795C>A	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849968	0.32699	.	.	ENSG00000152582	ENST00000356031;ENST00000509059;ENST00000440995	T;T;T	0.06608	3.3;3.28;3.34	4.55	2.62	0.31277	.	0.672540	0.13532	N	0.380873	T	0.07863	0.0197	N	0.22421	0.69	0.09310	N	1	B;D;P	0.61697	0.421;0.99;0.933	B;P;P	0.55260	0.027;0.772;0.462	T	0.32877	-0.9890	10	0.33940	T	0.23	.	6.5491	0.22423	0.2029:0.6005:0.1966:0.0	.	932;932;937	D6REZ4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	N	937;932;932	ENSP00000348314:T937N;ENSP00000421593:T932N;ENSP00000412125:T932N	ENSP00000348314:T937N	T	+	2	0	SPEF2	35744951	0.002000	0.14202	0.189000	0.23252	0.029000	0.11900	0.288000	0.18939	2.235000	0.73313	0.650000	0.86243	ACT		0.388	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		6	71	1	0	0.0215528	1	0.0215528	6	71				
JPH3	57338	broad.mit.edu	37	16	87723299	87723299	+	Missense_Mutation	SNP	G	G	C	rs368929223		TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr16:87723299G>C	ENST00000284262.2	+	4	1575	c.1333G>C	c.(1333-1335)Gag>Cag	p.E445Q	JPH3_ENST00000563609.1_3'UTR	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	445					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		TGACGACATCGAGGTGCTGTC	0.652																																						ENST00000284262.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(1333-1335)Gag>Cag		junctophilin 3							41.0	30.0	33.0					16																	87723299		2195	4300	6495	SO:0001583	missense	57338				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	g.chr16:87723299G>C	AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.1333G>C	16.37:g.87723299G>C	ENSP00000284262:p.Glu445Gln					JPH3_ENST00000563609.1_3'UTR	p.E445Q	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0287)	4	1575	+			445					D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Missense_Mutation	SNP	ENST00000284262.2	37	c.1333G>C	CCDS10962.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688507	0.68271	.	.	ENSG00000154118	ENST00000537256;ENST00000284262	T	0.58358	0.34	4.48	4.48	0.54585	.	0.059667	0.64402	D	0.000003	T	0.73171	0.3553	M	0.80183	2.485	0.58432	D	0.999992	D	0.89917	1.0	D	0.70227	0.968	T	0.78831	-0.2049	10	0.87932	D	0	.	16.1714	0.81820	0.0:0.0:1.0:0.0	.	445	Q8WXH2	JPH3_HUMAN	Q	308;445	ENSP00000284262:E445Q	ENSP00000284262:E445Q	E	+	1	0	JPH3	86280800	1.000000	0.71417	0.948000	0.38648	0.664000	0.39144	9.640000	0.98453	2.050000	0.60909	0.655000	0.94253	GAG		0.652	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2			8	27	0	0	0	1	0	8	27				
HCN1	348980	broad.mit.edu	37	5	45262258	45262258	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr5:45262258G>T	ENST00000303230.4	-	8	2495	c.2438C>A	c.(2437-2439)gCc>gAc	p.A813D		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	813					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGGGATGGAGGCCAGGGACTC	0.672																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(2437-2439)gCc>gAc		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							37.0	38.0	37.0					5																	45262258		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262258G>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2438C>A	5.37:g.45262258G>T	ENSP00000307342:p.Ala813Asp						p.A813D	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			8	2495	-			813						Missense_Mutation	SNP	ENST00000303230.4	37	c.2438C>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475666	0.63737	.	.	ENSG00000164588	ENST00000303230	D	0.98207	-4.79	5.02	5.02	0.67125	.	0.090503	0.46442	D	0.000298	D	0.95576	0.8562	L	0.29908	0.895	0.58432	D	0.999998	P	0.50066	0.931	B	0.38458	0.274	D	0.96115	0.9080	10	0.59425	D	0.04	.	18.7131	0.91666	0.0:0.0:1.0:0.0	.	813	O60741	HCN1_HUMAN	D	813	ENSP00000307342:A813D	ENSP00000307342:A813D	A	-	2	0	HCN1	45298015	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.491000	0.84063	0.655000	0.94253	GCC		0.672	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		18	85	1	0	1.02788e-11	1	1.12062e-11	18	85				
TFAP2A	7020	broad.mit.edu	37	6	10400743	10400743	+	Silent	SNP	G	G	A	rs1803117		TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr6:10400743G>A	ENST00000482890.1	-	7	1315	c.963C>T	c.(961-963)ctC>ctT	p.L321L	TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000319516.4_Silent_p.L317L|TFAP2A_ENST00000379613.3_Silent_p.L323L|TFAP2A_ENST00000379604.2_Silent_p.L321L|TFAP2A_ENST00000379608.3_Silent_p.L315L			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	321	H-S-H (helix-span-helix), dimerization.				anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|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 (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				GTTGTCGGTTGAGAAATTCAG	0.498																																						ENST00000379613.3																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13						c.(967-969)ctC>ctT		transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)							163.0	144.0	150.0					6																	10400743		2203	4300	6503	SO:0001819	synonymous_variant	7020				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr6:10400743G>A	X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"""transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"""	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.963C>T	6.37:g.10400743G>A						TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000379604.2_Silent_p.L321L|TFAP2A_ENST00000319516.4_Silent_p.L317L|TFAP2A_ENST00000482890.1_Silent_p.L321L|TFAP2A_ENST00000379608.3_Silent_p.L315L	p.L323L			P05549	AP2A_HUMAN			6	1225	-	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)	321			H-S-H (helix-span-helix), dimerization.		Q13777|Q5TAV5|Q8N1C6	Silent	SNP	ENST00000482890.1	37	c.969C>T	CCDS4510.1																																																																																				0.498	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353619.2	NM_003220		23	68	0	0	0	1	0	23	68				
NT5DC3	51559	broad.mit.edu	37	12	104182618	104182618	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr12:104182618G>A	ENST00000392876.3	-	10	1139	c.1099C>T	c.(1099-1101)Cag>Tag	p.Q367*		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	367						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						TGAGATACCTGCTTGTATATC	0.418																																						ENST00000392876.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						c.(1099-1101)Cag>Tag		5'-nucleotidase domain containing 3							313.0	277.0	289.0					12																	104182618		2203	4300	6503	SO:0001587	stop_gained	51559						hydrolase activity|metal ion binding	g.chr12:104182618G>A	AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.1099C>T	12.37:g.104182618G>A	ENSP00000376615:p.Gln367*						p.Q367*	NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN			10	1139	-			367					Q9NUM7|Q9P2T2|Q9P2T3	Nonsense_Mutation	SNP	ENST00000392876.3	37	c.1099C>T	CCDS41824.1	.	.	.	.	.	.	.	.	.	.	G	36	5.892097	0.97074	.	.	ENSG00000111696	ENST00000392876	.	.	.	5.81	5.81	0.92471	.	0.103318	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-40.7985	20.0784	0.97758	0.0:0.0:1.0:0.0	.	.	.	.	X	367	.	ENSP00000376615:Q367X	Q	-	1	0	NT5DC3	102706748	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.697000	0.98697	2.736000	0.93811	0.655000	0.94253	CAG		0.418	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575		34	99	0	0	0	1	0	34	99				
LITAF	9516	broad.mit.edu	37	16	11647526	11647526	+	Silent	SNP	G	G	A	rs149184234		TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr16:11647526G>A	ENST00000571688.1	-	3	470	c.240C>T	c.(238-240)taC>taT	p.Y80Y	LITAF_ENST00000339430.5_Silent_p.Y80Y|LITAF_ENST00000413364.2_Silent_p.Y80Y|LITAF_ENST00000381810.3_Silent_p.Y80Y|LITAF_ENST00000571459.1_Intron|LITAF_ENST00000570904.1_Silent_p.Y80Y|LITAF_ENST00000571976.1_Silent_p.Y80Y|LITAF_ENST00000576036.1_Silent_p.Y80Y|LITAF_ENST00000572255.1_De_novo_Start_OutOfFrame|LITAF_ENST00000574763.1_Silent_p.Y80Y	NM_001136472.1	NP_001129944.1	Q99732	LITAF_HUMAN	lipopolysaccharide-induced TNF factor	80					aging (GO:0007568)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of cytokine production (GO:0001817)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.Y80Y(1)		endometrium(1)|large_intestine(1)|liver(1)|lung(3)|skin(1)	7						GGTGCTGCACGTAGACCGTCT	0.512																																						ENST00000572255.1																			1	Substitution - coding silent(1)	p.Y80Y(1)	large_intestine(1)	endometrium(1)|large_intestine(1)|liver(1)|lung(3)|skin(1)	7								lipopolysaccharide-induced TNF factor		G	,,	0,4394		0,0,2197	118.0	70.0	86.0		240,240,240	-2.2	0.5	16	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	LITAF	NM_001136472.1,NM_001136473.1,NM_004862.3	,,	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	,,	80/162,80/153,80/162	11647526	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	9516				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|lysosomal membrane	signal transducer activity|WW domain binding	g.chr16:11647526G>A	AB034747	CCDS32386.1, CCDS45411.1	16p13.3-p12	2014-09-17							16841	protein-coding gene	gene with protein product		603795				9305847, 10200294	Standard	NM_004862		Approved	PIG7, SIMPLE, FLJ38636, TP53I7	uc002dbb.3	Q99732		ENST00000571688.1:c.240C>T	16.37:g.11647526G>A						LITAF_ENST00000571976.1_Silent_p.Y80Y|LITAF_ENST00000571688.1_Silent_p.Y80Y|LITAF_ENST00000571459.1_Intron|LITAF_ENST00000570904.1_Silent_p.Y80Y|LITAF_ENST00000576036.1_Silent_p.Y80Y|LITAF_ENST00000574763.1_Silent_p.Y80Y|LITAF_ENST00000413364.2_Silent_p.Y80Y|LITAF_ENST00000381810.3_Silent_p.Y80Y|LITAF_ENST00000339430.5_Silent_p.Y80Y				Q99732	LITAF_HUMAN			0	234	-								D3DUG1|G5E9K0|Q05DW0|Q9C0L6	Translation_Start_Site	SNP	ENST00000571688.1	37		CCDS32386.1																																																																																				0.512	LITAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436794.2	NM_004862		12	43	0	0	0	1	0	12	43				
CRB1	23418	broad.mit.edu	37	1	197313479	197313479	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr1:197313479G>A	ENST00000367400.3	+	3	856	c.721G>A	c.(721-723)Gat>Aat	p.D241N	CRB1_ENST00000367399.2_Intron|CRB1_ENST00000535699.1_Missense_Mutation_p.D172N|CRB1_ENST00000543483.1_De_novo_Start_OutOfFrame|CRB1_ENST00000538660.1_Missense_Mutation_p.D241N	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	241	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AACTTGTCAGGATGCTCTGGG	0.463																																						ENST00000543483.1																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132								crumbs homolog 1 (Drosophila)							232.0	223.0	226.0					1																	197313479		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197313479G>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.721G>A	1.37:g.197313479G>A	ENSP00000356370:p.Asp241Asn					CRB1_ENST00000538660.1_Missense_Mutation_p.D241N|CRB1_ENST00000367399.2_Intron|CRB1_ENST00000367400.3_Missense_Mutation_p.D241N|CRB1_ENST00000535699.1_Missense_Mutation_p.D172N				P82279	CRUM1_HUMAN			0	213	+								A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Translation_Start_Site	SNP	ENST00000367400.3	37		CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.989903	0.54041	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400	D;D;D	0.87412	-2.25;-2.25;-2.25	5.22	5.22	0.72569	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.91730	0.7385	L	0.49455	1.56	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.996	D;D;D;P	0.91635	0.999;0.978;0.986;0.873	D	0.91163	0.4962	9	0.42905	T	0.14	.	18.763	0.91860	0.0:0.0:1.0:0.0	.	241;172;241;266	B7Z5T2;F5H0L2;P82279;Q59H36	.;.;CRUM1_HUMAN;.	N	172;241;241	ENSP00000438786:D172N;ENSP00000438091:D241N;ENSP00000356370:D241N	ENSP00000356370:D241N	D	+	1	0	CRB1	195580102	1.000000	0.71417	0.624000	0.29186	0.049000	0.14656	4.845000	0.62853	2.412000	0.81896	0.557000	0.71058	GAT		0.463	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		47	123	0	0	0	1	0	47	123				
SERINC3	10955	broad.mit.edu	37	20	43129059	43129059	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr20:43129059G>C	ENST00000342374.4	-	10	1457	c.1300C>G	c.(1300-1302)Cag>Gag	p.Q434E	SERINC3_ENST00000541235.1_Missense_Mutation_p.Q379E|SERINC3_ENST00000255175.1_Missense_Mutation_p.Q434E	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	434					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			GTCATGCTCTGAAACTTTGCA	0.547																																						ENST00000342374.4																			0				endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18						c.(1300-1302)Cag>Gag		serine incorporator 3							45.0	37.0	39.0					20																	43129059		2203	4299	6502	SO:0001583	missense	10955					integral to membrane|plasma membrane	protein binding	g.chr20:43129059G>C	U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"""tumor differentially expressed 1"""	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.1300C>G	20.37:g.43129059G>C	ENSP00000340243:p.Gln434Glu					SERINC3_ENST00000255175.1_Missense_Mutation_p.Q434E|SERINC3_ENST00000541235.1_Missense_Mutation_p.Q379E	p.Q434E	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)		10	1457	-		Myeloproliferative disorder(115;0.0122)	434					B4DUE9|O43717|Q9BR33	Missense_Mutation	SNP	ENST00000342374.4	37	c.1300C>G	CCDS13333.1	.	.	.	.	.	.	.	.	.	.	G	2.856	-0.237170	0.05944	.	.	ENSG00000132824	ENST00000411544;ENST00000255175;ENST00000342374;ENST00000538937;ENST00000541235	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	5.46	4.5	0.54988	.	0.139661	0.44483	D	0.000447	T	0.05181	0.0138	N	0.02751	-0.505	0.28582	N	0.910082	B;B	0.12013	0.005;0.003	B;B	0.18263	0.021;0.015	T	0.32241	-0.9914	10	0.02654	T	1	.	12.6924	0.56982	0.0:0.0:0.546:0.454	.	434;434	Q53GK8;Q13530	.;SERC3_HUMAN	E	173;434;434;401;379	ENSP00000414197:Q173E;ENSP00000255175:Q434E;ENSP00000340243:Q434E;ENSP00000440966:Q379E	ENSP00000255175:Q434E	Q	-	1	0	SERINC3	42562473	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	1.891000	0.39738	1.288000	0.44600	-0.188000	0.12872	CAG		0.547	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080544.3	NM_006811		6	6	0	0	0	1	0	6	6				
NKAIN3	286183	broad.mit.edu	37	8	63492114	63492114	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr8:63492114G>A	ENST00000523211.1	+	2	203	c.71G>A	c.(70-72)aGg>aAg	p.R24K	NKAIN3_ENST00000328472.5_Missense_Mutation_p.R24K|NKAIN3_ENST00000519049.1_3'UTR	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				GCATTAGAGAGGCAGATCTTT	0.383																																						ENST00000523211.1																			0				kidney(3)|large_intestine(2)|lung(8)	13						c.(70-72)aGg>aAg		Na+/K+ transporting ATPase interacting 3							171.0	165.0	167.0					8																	63492114		1854	4104	5958	SO:0001583	missense	286183					integral to membrane|plasma membrane		g.chr8:63492114G>A	AK096949	CCDS55239.1	8q12.3	2014-08-12	2007-10-04	2007-10-04	ENSG00000185942	ENSG00000185942		"""Na+/K+ transporting ATPase interacting"""	26829	protein-coding gene	gene with protein product		612872	"""family with sequence similarity 77, member D"""	FAM77D		17606467	Standard	NM_173688		Approved	FLJ39630	uc010lyq.1	Q8N8D7	OTTHUMG00000164361	ENST00000523211.1:c.71G>A	8.37:g.63492114G>A	ENSP00000429073:p.Arg24Lys					NKAIN3_ENST00000519049.1_3'UTR|NKAIN3_ENST00000328472.5_Missense_Mutation_p.R24K	p.R24K	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN			2	203	+	Breast(64;0.127)	Lung NSC(129;0.187)	24						Missense_Mutation	SNP	ENST00000523211.1	37	c.71G>A	CCDS55239.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889647	0.72524	.	.	ENSG00000185942	ENST00000523211;ENST00000524201;ENST00000328472	T;T;T	0.27256	1.68;1.68;1.68	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.60314	0.2259	M	0.88775	2.98	0.58432	D	0.999993	D	0.71674	0.998	D	0.80764	0.994	T	0.66256	-0.5969	10	0.87932	D	0	-10.8195	19.144	0.93457	0.0:0.0:1.0:0.0	.	24	Q8N8D7	NKAI3_HUMAN	K	24	ENSP00000429073:R24K;ENSP00000429393:R24K;ENSP00000333627:R24K	ENSP00000333627:R24K	R	+	2	0	NKAIN3	63654668	1.000000	0.71417	1.000000	0.80357	0.032000	0.12392	9.852000	0.99516	2.770000	0.95276	0.650000	0.86243	AGG		0.383	NKAIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378447.2	NM_173688		19	89	0	0	0	1	0	19	89				
SELL	6402	broad.mit.edu	37	1	169676535	169676535	+	Silent	SNP	A	A	G			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr1:169676535A>G	ENST00000236147.4	-	4	727	c.567T>C	c.(565-567)aaT>aaC	p.N189N	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	176	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|regulation of immune response (GO:0050776)|response to ATP (GO:0033198)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|protease binding (GO:0002020)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					AGGTGTAATTATTGATGATTT	0.403																																						ENST00000236147.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15						c.(565-567)aaT>aaC		selectin L							87.0	83.0	84.0					1																	169676535		1889	4133	6022	SO:0001819	synonymous_variant	6402				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding	g.chr1:169676535A>G	M25280	CCDS53427.1	1q23-q25	2008-07-31	2008-07-31		ENSG00000188404	ENSG00000188404		"""CD molecules"""	10720	protein-coding gene	gene with protein product		153240	"""lymphocyte adhesion molecule 1"""	LYAM1, LNHR		2664786, 1375831	Standard	NR_029467		Approved	LSEL, LAM1, LAM-1, hLHRc, Leu-8, Lyam-1, PLNHR, CD62L	uc001ggk.3	P14151	OTTHUMG00000034809	ENST00000236147.4:c.567T>C	1.37:g.169676535A>G						SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	p.N189N	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN			4	727	-	all_hematologic(923;0.208)		176			EGF-like.		B2R6Q8|P15023|Q9UJ43	Silent	SNP	ENST00000236147.4	37	c.567T>C	CCDS53427.1																																																																																				0.403	SELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084233.1	NM_000655		12	18	0	0	0	1	0	12	18				
SORL1	6653	broad.mit.edu	37	11	121477987	121477987	+	Silent	SNP	A	A	G			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr11:121477987A>G	ENST00000260197.7	+	37	5283	c.5154A>G	c.(5152-5154)ctA>ctG	p.L1718L	SORL1_ENST00000532694.1_Silent_p.L564L|SORL1_ENST00000527934.1_Silent_p.L333L|SORL1_ENST00000534286.1_Silent_p.L628L|SORL1_ENST00000525532.1_Silent_p.L662L	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1718	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TCAACACTCTATACACCGTCA	0.463																																						ENST00000260197.7																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(5152-5154)ctA>ctG		sortilin-related receptor, L(DLR class) A repeats containing							74.0	67.0	70.0					11																	121477987		2203	4299	6502	SO:0001819	synonymous_variant	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121477987A>G	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.5154A>G	11.37:g.121477987A>G						SORL1_ENST00000525532.1_Silent_p.L662L|SORL1_ENST00000532694.1_Silent_p.L564L|SORL1_ENST00000527934.1_Silent_p.L333L|SORL1_ENST00000534286.1_Silent_p.L628L	p.L1718L	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	37	5283	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1718			Fibronectin type-III 2.		B2RNX7|Q92856	Silent	SNP	ENST00000260197.7	37	c.5154A>G	CCDS8436.1																																																																																				0.463	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		7	15	0	0	0	1	0	7	15				
DTNA	1837	broad.mit.edu	37	18	32409029	32409029	+	Intron	SNP	C	C	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr18:32409029C>A	ENST00000399113.3	+	10	1094				DTNA_ENST00000315456.6_Nonsense_Mutation_p.C373*|DTNA_ENST00000399097.3_Intron|DTNA_ENST00000554864.3_Nonsense_Mutation_p.C370*|DTNA_ENST00000444659.1_Intron|DTNA_ENST00000269191.6_Intron|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000283365.9_Intron|DTNA_ENST00000556414.3_Intron|DTNA_ENST00000591182.1_Intron|DTNA_ENST00000598774.1_Intron|DTNA_ENST00000269192.7_Intron|DTNA_ENST00000399121.5_Intron|DTNA_ENST00000597674.1_Intron|DTNA_ENST00000598334.1_Intron|DTNA_ENST00000599844.1_Intron|DTNA_ENST00000597599.1_Intron|DTNA_ENST00000269190.7_Intron|DTNA_ENST00000595022.1_Intron|DTNA_ENST00000348997.5_Intron|DTNA_ENST00000601125.1_Intron|DTNA_ENST00000598142.1_Intron			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha						neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.C370*(2)|p.C373*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						TTGGTGGATGCGTCTAGATGG	0.428																																						ENST00000315456.6																			3	Substitution - Nonsense(3)	p.C370*(2)|p.C373*(1)	lung(3)	endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1117-1119)tgC>tgA		dystrobrevin, alpha							217.0	199.0	205.0					18																	32409029		1895	4117	6012	SO:0001627	intron_variant	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32409029C>A	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.1094+1389C>A	18.37:g.32409029C>A						DTNA_ENST00000283365.9_Intron|DTNA_ENST00000599844.1_Intron|DTNA_ENST00000601125.1_Intron|DTNA_ENST00000444659.1_Intron|DTNA_ENST00000595022.1_Intron|DTNA_ENST00000556414.3_Intron|DTNA_ENST00000597674.1_Intron|DTNA_ENST00000554864.3_Nonsense_Mutation_p.C370*|DTNA_ENST00000399113.3_Intron|DTNA_ENST00000399097.3_Intron|DTNA_ENST00000598334.1_Intron|DTNA_ENST00000591182.1_Intron|DTNA_ENST00000598142.1_Intron|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000399121.5_Intron|DTNA_ENST00000597599.1_Intron|DTNA_ENST00000348997.5_Intron|DTNA_ENST00000269190.7_Intron|DTNA_ENST00000269192.7_Intron|DTNA_ENST00000598774.1_Intron|DTNA_ENST00000269191.6_Intron	p.C373*	NM_001392.4	NP_001383.2	Q9Y4J8	DTNA_HUMAN			13	1443	+			0					A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Nonsense_Mutation	SNP	ENST00000399113.3	37	c.1119C>A	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	C	37	6.265380	0.97426	.	.	ENSG00000134769	ENST00000315456;ENST00000556176	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4902	0.67645	0.0:1.0:0.0:0.0	.	.	.	.	X	373;370	.	ENSP00000322519:C373X	C	+	3	2	DTNA	30663027	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.347000	0.52200	2.808000	0.96608	0.650000	0.86243	TGC		0.428	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		9	45	1	0	1.58986e-06	1	1.65849e-06	9	45				
DGKZ	8525	broad.mit.edu	37	11	46388505	46388505	+	Silent	SNP	C	C	T	rs574714907		TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr11:46388505C>T	ENST00000454345.1	+	2	824	c.699C>T	c.(697-699)gcC>gcT	p.A233A	DGKZ_ENST00000395574.3_Intron|DGKZ_ENST00000525434.1_Intron|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000532868.2_Intron|DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000527911.1_Intron|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000318201.8_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	233					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GCAAGGCGGCCGGACCCCAGG	0.716													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15111	0.0		0.0	False		,,,				2504	0.0					ENST00000454345.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25						c.(697-699)gcC>gcT		diacylglycerol kinase, zeta							3.0	4.0	3.0					11																	46388505		1765	3732	5497	SO:0001819	synonymous_variant	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46388505C>T	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.699C>T	11.37:g.46388505C>T						DGKZ_ENST00000525434.1_Intron|DGKZ_ENST00000532868.2_Intron|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000527911.1_Intron|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000395574.3_Intron|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000543978.1_Intron	p.A233A	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	2	824	+			233					B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Silent	SNP	ENST00000454345.1	37	c.699C>T	CCDS41640.1																																																																																				0.716	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		2	0	0	0	0	1	0	2	0				
BEX2	84707	broad.mit.edu	37	X	102564629	102564629	+	Silent	SNP	C	C	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chrX:102564629C>T	ENST00000372677.3	-	3	543	c.276G>A	c.(274-276)gtG>gtA	p.V92V	BEX2_ENST00000372674.1_Silent_p.V92V|BEX2_ENST00000536889.1_Silent_p.V124V	NM_032621.3	NP_116010.1	Q9BXY8	BEX2_HUMAN	brain expressed X-linked 2	92					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|lung(1)|ovary(1)	3						TCAGCTGTCTCACCTCCTCCC	0.517																																						ENST00000536889.1																			0				endometrium(1)|lung(1)|ovary(1)	3						c.(370-372)gtG>gtA		brain expressed X-linked 2							264.0	215.0	232.0					X																	102564629		2203	4300	6503	SO:0001819	synonymous_variant	84707				apoptosis|cell cycle|regulation of apoptosis|regulation of cell cycle	cytoplasm|nucleus		g.chrX:102564629C>T	BC015522	CCDS14505.1, CCDS55467.1	Xq22	2014-03-21			ENSG00000133134	ENSG00000133134			30933	protein-coding gene	gene with protein product		300691				16221301	Standard	NM_001168399		Approved	DJ79P11.1	uc004eka.3	Q9BXY8	OTTHUMG00000022095	ENST00000372677.3:c.276G>A	X.37:g.102564629C>T						BEX2_ENST00000372674.1_Silent_p.V92V|BEX2_ENST00000372677.3_Silent_p.V92V	p.V124V	NM_001168399.1|NM_001168400.1	NP_001161871.1|NP_001161872.1	Q9BXY8	BEX2_HUMAN			3	729	-			92					B2R574|D3DXA2|F5H7H5|Q5JVV9	Silent	SNP	ENST00000372677.3	37	c.372G>A	CCDS14505.1																																																																																				0.517	BEX2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057702.1	NM_032621		62	51	0	0	0	1	0	62	51				
SNX27	81609	broad.mit.edu	37	1	151655871	151655871	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr1:151655871G>C	ENST00000458013.2	+	8	1309	c.1189G>C	c.(1189-1191)Gaa>Caa	p.E397Q	SNX27_ENST00000368843.3_Missense_Mutation_p.E397Q|SNX27_ENST00000368838.1_Missense_Mutation_p.E304Q			Q96L92	SNX27_HUMAN	sorting nexin family member 27	397	FERM-like region F2.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAAAGCAGAAGAAAAGTCCTA	0.358																																					Colon(46;291 966 40145 41237 41888)	ENST00000368843.3																			0				central_nervous_system(1)|large_intestine(2)|ovary(2)	5						c.(1189-1191)Gaa>Caa		sorting nexin family member 27							129.0	121.0	124.0					1																	151655871		2203	4300	6503	SO:0001583	missense	81609				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding	g.chr1:151655871G>C	AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"""Sorting nexins"""	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.1189G>C	1.37:g.151655871G>C	ENSP00000400333:p.Glu397Gln					SNX27_ENST00000368838.1_Missense_Mutation_p.E304Q|SNX27_ENST00000458013.2_Missense_Mutation_p.E397Q	p.E397Q	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		8	1309	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		397					Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Missense_Mutation	SNP	ENST00000458013.2	37	c.1189G>C		.	.	.	.	.	.	.	.	.	.	G	13.26	2.185245	0.38609	.	.	ENSG00000143376	ENST00000458013;ENST00000368843;ENST00000368838	T;T;T	0.53206	0.63;0.63;0.83	5.55	5.55	0.83447	.	0.055234	0.64402	D	0.000001	T	0.23171	0.0560	L	0.27053	0.805	0.45515	D	0.998474	B;B	0.17268	0.012;0.021	B;B	0.14023	0.007;0.01	T	0.02358	-1.1171	10	0.31617	T	0.26	.	16.3527	0.83220	0.0:0.0:1.0:0.0	.	397;397	Q96L92;Q96L92-3	SNX27_HUMAN;.	Q	397;397;304	ENSP00000400333:E397Q;ENSP00000357836:E397Q;ENSP00000357831:E304Q	ENSP00000357831:E304Q	E	+	1	0	SNX27	149922495	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.284000	0.65627	2.885000	0.99019	0.655000	0.94253	GAA		0.358	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3	NM_030918		5	15	0	0	0	1	0	5	15				
USP5	8078	broad.mit.edu	37	12	6972528	6972528	+	Silent	SNP	C	C	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr12:6972528C>T	ENST00000229268.8	+	15	1993	c.1941C>T	c.(1939-1941)ttC>ttT	p.F647F	USP5_ENST00000541969.1_3'UTR|USP5_ENST00000389231.5_Intron	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	647	USP.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						CCCCTCACTTCTCCTCTCCGA	0.567																																						ENST00000229268.8																			0				breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						c.(1939-1941)ttC>ttT		ubiquitin specific peptidase 5 (isopeptidase T)							133.0	139.0	137.0					12																	6972528		2203	4300	6503	SO:0001819	synonymous_variant	8078				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr12:6972528C>T	U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"""Ubiquitin-specific peptidases"""	12628	protein-coding gene	gene with protein product		601447	"""ubiquitin specific protease 5 (isopeptidase T)"""			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.1941C>T	12.37:g.6972528C>T						USP5_ENST00000389231.5_Intron|USP5_ENST00000541969.1_3'UTR	p.F647F	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN			15	1993	+			647					D3DUS7|D3DUS8|Q96J22	Silent	SNP	ENST00000229268.8	37	c.1941C>T	CCDS41743.1																																																																																				0.567	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1			44	96	0	0	0	1	0	44	96				
CYP27B1	1594	broad.mit.edu	37	12	58158164	58158164	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr12:58158164A>T	ENST00000228606.4	-	6	1342	c.1133T>A	c.(1132-1134)cTa>cAa	p.L378Q	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	378					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	CCCTCACCTTAGCACTTCCTT	0.577																																						ENST00000228606.4																			0				central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15						c.(1132-1134)cTa>cAa		cytochrome P450, family 27, subfamily B, polypeptide 1	Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)						116.0	123.0	121.0					12																	58158164		2203	4300	6503	SO:0001583	missense	1594				bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	g.chr12:58158164A>T	AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"""Cytochrome P450s"""	2606	protein-coding gene	gene with protein product	"""VDDR I"", ""1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase"""	609506	"""cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"""	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.1133T>A	12.37:g.58158164A>T	ENSP00000228606:p.Leu378Gln						p.L378Q	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		6	1342	-	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		378					B2RC61|Q548T3	Missense_Mutation	SNP	ENST00000228606.4	37	c.1133T>A	CCDS8954.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.110505	0.77210	.	.	ENSG00000111012	ENST00000228606;ENST00000546567	T;T	0.80566	-1.39;-1.39	4.79	4.79	0.61399	.	0.071854	0.56097	D	0.000024	D	0.85531	0.5718	L	0.52206	1.635	0.80722	D	1	D	0.56287	0.975	D	0.67382	0.951	D	0.85809	0.1378	10	0.49607	T	0.09	.	13.4273	0.61032	1.0:0.0:0.0:0.0	.	378	O15528	CP27B_HUMAN	Q	378;143	ENSP00000228606:L378Q;ENSP00000449472:L143Q	ENSP00000228606:L378Q	L	-	2	0	CYP27B1	56444431	1.000000	0.71417	0.985000	0.45067	0.859000	0.49053	7.092000	0.76930	2.028000	0.59812	0.379000	0.24179	CTA		0.577	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1	NM_000785		64	178	0	0	0	1	0	64	178				
PCDHA3	56145	broad.mit.edu	37	5	140181292	140181292	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr5:140181292C>A	ENST00000522353.2	+	1	510	c.510C>A	c.(508-510)taC>taA	p.Y170*	PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Nonsense_Mutation_p.Y170*|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	170	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTGACTTACAGTCTTGATT	0.393																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(508-510)taC>taA									74.0	78.0	77.0					5																	140181292		2203	4300	6503	SO:0001587	stop_gained	56145							g.chr5:140181292C>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.510C>A	5.37:g.140181292C>A	ENSP00000429808:p.Tyr170*					PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Nonsense_Mutation_p.Y170*|PCDHA2_ENST00000520672.2_Intron	p.Y170*	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	510	+								O75286	Nonsense_Mutation	SNP	ENST00000522353.2	37	c.510C>A	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	c	15.30	2.792878	0.50102	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	.	.	.	4.86	1.54	0.23209	.	0.000000	0.38111	U	0.001813	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.979	0.35953	0.0:0.5718:0.0:0.4281	.	.	.	.	X	170	.	ENSP00000429808:Y170X	Y	+	3	2	PCDHA3	140161476	0.000000	0.05858	0.568000	0.28447	0.959000	0.62525	-0.535000	0.06142	0.585000	0.29608	0.467000	0.42956	TAC		0.393	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		34	33	1	0	4.74835e-14	1	5.29624e-14	34	33				
AKAP2	11217	broad.mit.edu	37	9	112930707	112930707	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr9:112930707G>A	ENST00000259318.7	+	4	2717	c.2510G>A	c.(2509-2511)aGa>aAa	p.R837K	AKAP2_ENST00000434623.2_Missense_Mutation_p.R939K|AKAP2_ENST00000510514.5_Missense_Mutation_p.R1068K|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.R1081K|AKAP2_ENST00000374525.1_Missense_Mutation_p.R926K|AKAP2_ENST00000555236.1_Missense_Mutation_p.R1081K|AKAP2_ENST00000482335.1_3'UTR|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.R1068K	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	837										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						GTTAATCGAAGAAAGAGCGCA	0.463																																						ENST00000374530.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(3241-3243)aGa>aAa									99.0	95.0	96.0					9																	112930707		2203	4300	6503	SO:0001583	missense	445815						enzyme binding	g.chr9:112930707G>A	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.2510G>A	9.37:g.112930707G>A	ENSP00000259318:p.Arg837Lys					AKAP2_ENST00000434623.2_Missense_Mutation_p.R939K|AKAP2_ENST00000555236.1_Missense_Mutation_p.R1081K|AKAP2_ENST00000259318.7_Missense_Mutation_p.R837K|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.R1068K|AKAP2_ENST00000510514.5_Missense_Mutation_p.R1068K|AKAP2_ENST00000374525.1_Missense_Mutation_p.R926K|AKAP2_ENST00000482335.1_3'UTR	p.R1081K	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			11	3422	+			837					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.3242G>A	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635614	0.87760	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000259318	T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.53753	0.1816	L	0.56769	1.78	0.45318	D	0.998316	D;D;D;D;D	0.67145	0.994;0.996;0.994;0.99;0.99	D;D;D;D;D	0.76071	0.97;0.987;0.97;0.98;0.98	T	0.52351	-0.8587	10	0.56958	D	0.05	-22.0157	18.385	0.90464	0.0:0.0:1.0:0.0	.	837;939;927;1068;1081	Q9Y2D5;Q9Y2D5-7;B1ALY1;Q9Y2D5-6;Q9Y2D5-4	AKAP2_HUMAN;.;.;.;.	K	1081;1068;1081;1068;939;926;837	ENSP00000363654:R1081K;ENSP00000305861:R1068K;ENSP00000451476:R1081K;ENSP00000421522:R1068K;ENSP00000404782:R939K;ENSP00000363649:R926K;ENSP00000259318:R837K	ENSP00000259318:R837K	R	+	2	0	PALM2-AKAP2;AKAP2	111970528	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.519000	0.81809	2.565000	0.86533	0.655000	0.94253	AGA		0.463	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		11	50	0	0	0	1	0	11	50				
ARF1	375	broad.mit.edu	37	1	228284873	228284873	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr1:228284873A>T	ENST00000541182.1	+	2	320	c.58A>T	c.(58-60)Atc>Ttc	p.I20F	ARF1_ENST00000272102.5_Missense_Mutation_p.I20F|ARF1_ENST00000478424.1_3'UTR|ARF1_ENST00000540651.1_Missense_Mutation_p.I20F|MIR3620_ENST00000584469.1_RNA	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	20					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular copper ion homeostasis (GO:0006878)|COPI coating of Golgi vesicle (GO:0048205)|dendritic spine organization (GO:0097061)|GTP catabolic process (GO:0006184)|long term synaptic depression (GO:0060292)|membrane organization (GO:0061024)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|regulation of defense response to virus by virus (GO:0050690)|regulation of receptor internalization (GO:0002090)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				AGAAATGCGCATCCTCATGGT	0.552																																						ENST00000541182.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10						c.(58-60)Atc>Ttc		ADP-ribosylation factor 1							122.0	102.0	109.0					1																	228284873		2203	4300	6503	SO:0001583	missense	375				cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity	g.chr1:228284873A>T	M84326	CCDS1565.1	1q42.13	2014-01-30			ENSG00000143761	ENSG00000143761		"""ADP-ribosylation factors"", ""Endogenous ligands"""	652	protein-coding gene	gene with protein product		103180				1577740	Standard	NM_001658		Approved		uc001hrr.3	P84077	OTTHUMG00000037595	ENST00000541182.1:c.58A>T	1.37:g.228284873A>T	ENSP00000440005:p.Ile20Phe					ARF1_ENST00000540651.1_Missense_Mutation_p.I20F|ARF1_ENST00000272102.5_Missense_Mutation_p.I20F|ARF1_ENST00000478424.1_3'UTR	p.I20F	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN			2	320	+		Prostate(94;0.0405)	20					P10947|P32889	Missense_Mutation	SNP	ENST00000541182.1	37	c.58A>T	CCDS1565.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.829546	0.90955	.	.	ENSG00000143761	ENST00000272102;ENST00000540651;ENST00000542941;ENST00000541182	D;D;D	0.85702	-2.02;-2.02;-2.02	5.55	4.43	0.53597	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000012	D	0.90717	0.7087	M	0.92412	3.305	0.80722	D	1	P;P	0.47302	0.8;0.893	P;B	0.49708	0.62;0.35	D	0.91671	0.5350	10	0.87932	D	0	-13.6579	11.4708	0.50268	0.9303:0.0:0.0697:0.0	.	20;20	B4DJC8;P84077	.;ARF1_HUMAN	F	20	ENSP00000272102:I20F;ENSP00000442980:I20F;ENSP00000440005:I20F	ENSP00000272102:I20F	I	+	1	0	ARF1	226351496	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.062000	0.93920	1.127000	0.42034	0.482000	0.46254	ATC		0.552	ARF1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091650.1	NM_001024227		37	147	0	0	0	1	0	37	147				
ANKRD30B	374860	broad.mit.edu	37	18	14763781	14763781	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr18:14763781C>T	ENST00000358984.4	+	7	1097	c.917C>T	c.(916-918)gCt>gTt	p.A306V	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.A306V	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	306										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						CCTGACGAGGCTGCACGCTTG	0.488																																						ENST00000358984.4																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(916-918)gCt>gTt		ankyrin repeat domain 30B							58.0	57.0	57.0					18																	14763781		692	1591	2283	SO:0001583	missense	374860							g.chr18:14763781C>T	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.917C>T	18.37:g.14763781C>T	ENSP00000351875:p.Ala306Val					ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.A306V	p.A306V	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			7	1097	+			306					B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.917C>T	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	9.611	1.131289	0.21041	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.34859	1.41;1.34	0.235	-0.47	0.12131	.	.	.	.	.	T	0.32255	0.0823	N	0.19112	0.55	0.09310	N	1	D	0.60575	0.988	P	0.59948	0.866	T	0.17715	-1.0360	8	0.31617	T	0.26	.	.	.	.	.	306	F8WAG3	.	V	306	ENSP00000351875:A306V;ENSP00000399031:A306V	ENSP00000351875:A306V	A	+	2	0	ANKRD30B	14753781	0.014000	0.17966	0.006000	0.13384	0.006000	0.05464	0.260000	0.18424	-0.651000	0.05415	-0.642000	0.03964	GCT		0.488	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		12	32	0	0	0	1	0	12	32				
SMYD1	150572	broad.mit.edu	37	2	88396193	88396193	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr2:88396193G>A	ENST00000419482.2	+	6	863	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K	SMYD1_ENST00000444564.2_Missense_Mutation_p.E247K|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	260					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						CAACGTTAGTGAAGAACGCAA	0.483																																						ENST00000419482.2																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.(778-780)Gaa>Aaa		SET and MYND domain containing 1							110.0	102.0	105.0					2																	88396193		2203	4300	6503	SO:0001583	missense	150572				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr2:88396193G>A	AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.778G>A	2.37:g.88396193G>A	ENSP00000393453:p.Glu260Lys					SMYD1_ENST00000444564.2_Missense_Mutation_p.E247K|SMYD1_ENST00000438570.1_Intron	p.E260K	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN			6	863	+			260					A0AV30|A6NE13	Missense_Mutation	SNP	ENST00000419482.2	37	c.778G>A	CCDS33240.1	.	.	.	.	.	.	.	.	.	.	G	6.631	0.484903	0.12641	.	.	ENSG00000115593	ENST00000419482;ENST00000444564;ENST00000295833	T;T	0.24151	1.87;1.88	5.62	2.57	0.30868	.	0.208586	0.48286	D	0.000181	T	0.27454	0.0674	M	0.68952	2.095	0.22610	N	0.998931	B	0.09022	0.002	B	0.06405	0.002	T	0.21280	-1.0250	10	0.40728	T	0.16	-7.1457	12.9906	0.58616	0.0:0.2413:0.6472:0.1115	.	260	Q8NB12	SMYD1_HUMAN	K	260;247;81	ENSP00000393453:E260K;ENSP00000407888:E247K	ENSP00000295833:E81K	E	+	1	0	SMYD1	88177308	0.853000	0.29707	0.015000	0.15790	0.008000	0.06430	3.413000	0.52686	0.693000	0.31634	0.655000	0.94253	GAA		0.483	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915		16	78	0	0	0	1	0	16	78				
FAT3	120114	broad.mit.edu	37	11	92616509	92616509	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr11:92616509G>T	ENST00000298047.6	+	23	12904	c.12887G>T	c.(12886-12888)cGc>cTc	p.R4296L	FAT3_ENST00000525166.1_Missense_Mutation_p.R4146L|FAT3_ENST00000533797.1_Missense_Mutation_p.R631L|FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000409404.2_Missense_Mutation_p.R4296L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4296					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCACCCTGCCGCTCCGACTGC	0.647										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(12886-12888)cGc>cTc		FAT atypical cadherin 3							26.0	30.0	29.0					11																	92616509		1951	3996	5947	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92616509G>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12887G>T	11.37:g.92616509G>T	ENSP00000298047:p.Arg4296Leu	TCGA Ovarian(4;0.039)				FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000525166.1_Missense_Mutation_p.R4146L|FAT3_ENST00000533797.1_Missense_Mutation_p.R631L|FAT3_ENST00000409404.2_Missense_Mutation_p.R4296L	p.R4296L			Q8TDW7	FAT3_HUMAN			23	12904	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4296					B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.12887G>T		.	.	.	.	.	.	.	.	.	.	G	23.6	4.434305	0.83776	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;D	0.85861	-0.82;-0.85;-0.83;-2.04	5.64	5.64	0.86602	.	.	.	.	.	D	0.90497	0.7023	L	0.56769	1.78	0.80722	D	1	D;D	0.62365	0.991;0.976	D;P	0.63033	0.91;0.801	D	0.89325	0.3643	9	0.42905	T	0.14	.	19.7036	0.96065	0.0:0.0:1.0:0.0	.	4296;4296	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	L	4296;4296;4146;631	ENSP00000298047:R4296L;ENSP00000387040:R4296L;ENSP00000432586:R4146L;ENSP00000436399:R631L	ENSP00000298047:R4296L	R	+	2	0	FAT3	92256157	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.582000	0.67477	2.660000	0.90430	0.655000	0.94253	CGC		0.647	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		14	33	1	0	7.87624e-14	1	8.71798e-14	14	33				
CADPS2	93664	broad.mit.edu	37	7	122303468	122303468	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr7:122303468C>G	ENST00000449022.2	-	3	628	c.609G>C	c.(607-609)tgG>tgC	p.W203C	CADPS2_ENST00000412584.2_Missense_Mutation_p.W203C|CADPS2_ENST00000334010.7_Missense_Mutation_p.W203C|CADPS2_ENST00000313070.7_Missense_Mutation_p.W203C	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	203					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						ATTTGGCTATCCATGAGCTCA	0.413																																						ENST00000334010.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						c.(607-609)tgG>tgC		Ca++-dependent secretion activator 2							142.0	135.0	137.0					7																	122303468		1928	4149	6077	SO:0001583	missense	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122303468C>G		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.609G>C	7.37:g.122303468C>G	ENSP00000398481:p.Trp203Cys					CADPS2_ENST00000412584.2_Missense_Mutation_p.W203C|CADPS2_ENST00000313070.7_Missense_Mutation_p.W203C|CADPS2_ENST00000449022.2_Missense_Mutation_p.W203C	p.W203C	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN			3	1030	-			203					A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.609G>C	CCDS55158.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.247956	0.80024	.	.	ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022	D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.96414	0.8830	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.986;0.996	D	0.96883	0.9647	10	0.87932	D	0	-5.3093	18.8783	0.92347	0.0:1.0:0.0:0.0	.	203;203	Q86UW7-2;Q86UW7	.;CAPS2_HUMAN	C	203;203;203;170;203;203	ENSP00000325581:W203C;ENSP00000333940:W203C;ENSP00000400401:W203C;ENSP00000398481:W203C	ENSP00000325581:W203C	W	-	3	0	CADPS2	122090704	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.792000	0.85828	2.468000	0.83385	0.650000	0.86243	TGG		0.413	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		24	29	0	0	0	1	0	24	29				
DHCR24	1718	broad.mit.edu	37	1	55349376	55349376	+	Nonsense_Mutation	SNP	G	G	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr1:55349376G>C	ENST00000371269.3	-	2	400	c.302C>G	c.(301-303)tCa>tGa	p.S101*	DHCR24_ENST00000535035.1_Nonsense_Mutation_p.S60*	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	101	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				amyloid precursor protein catabolic process (GO:0042987)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cholesterol biosynthetic process (GO:0006695)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|oxidation-reduction process (GO:0055114)|plasminogen activation (GO:0031639)|protein localization (GO:0008104)|Ras protein signal transduction (GO:0007265)|regulation of neuron death (GO:1901214)|response to hormone (GO:0009725)|response to oxidative stress (GO:0006979)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|tissue development (GO:0009888)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	delta24(24-1) sterol reductase activity (GO:0000246)|delta24-sterol reductase activity (GO:0050614)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|peptide antigen binding (GO:0042605)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						GACACGTAGTGAGACAGTGAG	0.537																																					Pancreas(39;516 1021 24601 30715 32780)	ENST00000371269.3																			0				large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						c.(301-303)tCa>tGa		24-dehydrocholesterol reductase							217.0	189.0	198.0					1																	55349376		2203	4300	6503	SO:0001587	stop_gained	1718				anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding	g.chr1:55349376G>C	AF261758	CCDS600.1	1p32.3	2008-02-05			ENSG00000116133	ENSG00000116133			2859	protein-coding gene	gene with protein product		606418				11519011	Standard	NM_014762		Approved	KIAA0018, seladin-1	uc001cyc.1	Q15392	OTTHUMG00000009989	ENST00000371269.3:c.302C>G	1.37:g.55349376G>C	ENSP00000360316:p.Ser101*					DHCR24_ENST00000535035.1_Nonsense_Mutation_p.S60*	p.S101*	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN			2	400	-			101			FAD-binding PCMH-type.		B7Z817|D3DQ51|Q9HBA8	Nonsense_Mutation	SNP	ENST00000371269.3	37	c.302C>G	CCDS600.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.867722	0.91587	.	.	ENSG00000116133	ENST00000539536;ENST00000371269;ENST00000535035	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-8.2945	18.8671	0.92296	0.0:0.0:1.0:0.0	.	.	.	.	X	101;101;60	.	ENSP00000360316:S101X	S	-	2	0	DHCR24	55121964	1.000000	0.71417	0.642000	0.29436	0.178000	0.23041	9.869000	0.99810	2.467000	0.83353	0.655000	0.94253	TCA		0.537	DHCR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027680.1	NM_014762		55	202	0	0	0	1	0	55	202				
CSMD3	114788	broad.mit.edu	37	8	113420545	113420545	+	Splice_Site	SNP	A	A	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr8:113420545A>T	ENST00000297405.5	-	34	5850		c.e34+1		CSMD3_ENST00000352409.3_Intron|CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000455883.2_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGGGTCACTTACCTTGGTAAA	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.e34+1		CUB and Sushi multiple domains 3							151.0	146.0	148.0					8																	113420545		2203	4299	6502	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:113420545A>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5605+1T>A	8.37:g.113420545A>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000352409.3_Intron|CSMD3_ENST00000343508.3_Splice_Site		NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			34	5850	-								Q96PZ3	Splice_Site	SNP	ENST00000297405.5	37		CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	19.55	3.847797	0.71603	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6511	0.68797	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD3	113489721	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.087000	0.94110	2.103000	0.63969	0.482000	0.46254	.		0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Intron	19	56	0	0	0	1	0	19	56				
PRKAA2	5563	broad.mit.edu	37	1	57173370	57173370	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr1:57173370C>T	ENST00000371244.4	+	9	1709	c.1643C>T	c.(1642-1644)aCt>aTt	p.T548I		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	548					autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	AGTCTGATTACTACTTTAGCC	0.378																																						ENST00000371244.4																			0				breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						c.(1642-1644)aCt>aTt		protein kinase, AMP-activated, alpha 2 catalytic subunit							112.0	106.0	108.0					1																	57173370		2203	4300	6503	SO:0001583	missense	5563				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	g.chr1:57173370C>T	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.1643C>T	1.37:g.57173370C>T	ENSP00000360290:p.Thr548Ile						p.T548I	NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN			9	1709	+			548					Q9H1E8|Q9UD43	Missense_Mutation	SNP	ENST00000371244.4	37	c.1643C>T	CCDS605.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.949708	0.34377	.	.	ENSG00000162409	ENST00000371244	T	0.72505	-0.66	5.99	5.07	0.68467	.	0.157655	0.56097	D	0.000038	T	0.50701	0.1631	N	0.17474	0.49	0.54753	D	0.999986	B	0.09022	0.002	B	0.09377	0.004	T	0.44128	-0.9348	10	0.22109	T	0.4	-24.1278	9.1708	0.37081	0.0:0.8428:0.0:0.1572	.	548	P54646	AAPK2_HUMAN	I	548	ENSP00000360290:T548I	ENSP00000360290:T548I	T	+	2	0	PRKAA2	56945958	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.602000	0.54066	2.840000	0.97914	0.655000	0.94253	ACT		0.378	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252		7	126	0	0	0	1	0	7	126				
AKAP6	9472	broad.mit.edu	37	14	33290907	33290907	+	Silent	SNP	C	C	G			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr14:33290907C>G	ENST00000280979.4	+	13	4058	c.3888C>G	c.(3886-3888)ctC>ctG	p.L1296L	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1296					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ATGTTGAACTCTATGAGGACA	0.438																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(3886-3888)ctC>ctG		A kinase (PRKA) anchor protein 6							58.0	50.0	53.0					14																	33290907		2203	4300	6503	SO:0001819	synonymous_variant	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33290907C>G	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.3888C>G	14.37:g.33290907C>G						AKAP6_ENST00000557272.1_Intron	p.L1296L	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	4058	+	Breast(36;0.0388)|Prostate(35;0.15)		1296					A7E242|A7E2D4|O15028	Silent	SNP	ENST00000280979.4	37	c.3888C>G	CCDS9644.1																																																																																				0.438	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		6	27	0	0	0	1	0	6	27				
GNAI2	2771	broad.mit.edu	37	3	50293708	50293708	+	Silent	SNP	G	G	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr3:50293708G>A	ENST00000313601.6	+	5	933	c.549G>A	c.(547-549)acG>acA	p.T183T	GNAI2_ENST00000440628.1_Silent_p.T131T|GNAI2_ENST00000451956.1_Silent_p.T146T|GNAI2_ENST00000536647.1_Silent_p.T102T|GNAI2_ENST00000422163.1_Silent_p.T167T|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000266027.5_Silent_p.T167T	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	183					activation of MAPKK activity (GO:0000186)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of synaptic transmission (GO:0050805)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|regulation of calcium ion transport (GO:0051924)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		TAAAGACCACGGGGATCGTGG	0.592																																						ENST00000313601.6																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16						c.(547-549)acG>acA		guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2							126.0	98.0	107.0					3																	50293708		2203	4300	6503	SO:0001819	synonymous_variant	2771				adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr3:50293708G>A	X04828	CCDS2813.1, CCDS54587.1, CCDS63642.1, CCDS63644.1	3p21.31	2010-08-27			ENSG00000114353	ENSG00000114353			4385	protein-coding gene	gene with protein product	"""GTP-binding regulatory protein Gi alpha-2 chain"""	139360		GNAI2B		3100330, 1733849	Standard	NM_001166425		Approved	GIP	uc003cyq.1	P04899	OTTHUMG00000156940	ENST00000313601.6:c.549G>A	3.37:g.50293708G>A						GNAI2_ENST00000422163.1_Silent_p.T167T|GNAI2_ENST00000440628.1_Silent_p.T131T|GNAI2_ENST00000266027.5_Silent_p.T167T|GNAI2_ENST00000451956.1_Silent_p.T146T|GNAI2_ENST00000536647.1_Silent_p.T102T|GNAI2_ENST00000491100.1_3'UTR	p.T183T	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)	5	933	+			183					B3KTZ0|B4DYA0|B4E2X5|Q6B6N3|Q8IZ71	Silent	SNP	ENST00000313601.6	37	c.549G>A	CCDS2813.1																																																																																				0.592	GNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346688.1	NM_002070		33	44	0	0	0	1	0	33	44				
ACRC	93953	broad.mit.edu	37	X	70832382	70832382	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chrX:70832382A>G	ENST00000373695.1	+	11	2465	c.1928A>G	c.(1927-1929)cAt>cGt	p.H643R	ACRC_ENST00000471950.1_3'UTR|ACRC_ENST00000373696.3_Missense_Mutation_p.H643R			Q96QF7	ACRC_HUMAN	acidic repeat containing	643	SprT-like.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TACAAGGTCCATTATGAATGT	0.458																																						ENST00000373695.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(1927-1929)cAt>cGt		acidic repeat containing							66.0	57.0	60.0					X																	70832382		2203	4300	6503	SO:0001583	missense	93953					nucleus		g.chrX:70832382A>G	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.1928A>G	X.37:g.70832382A>G	ENSP00000362799:p.His643Arg					ACRC_ENST00000471950.1_3'UTR|ACRC_ENST00000373696.3_Missense_Mutation_p.H643R	p.H643R			Q96QF7	ACRC_HUMAN			11	2465	+	Renal(35;0.156)		643					B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.1928A>G	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	A	1.547	-0.540314	0.04053	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.41065	1.01;1.01	4.97	-0.546	0.11840	Domain of unknown function SprT-like (2);	.	.	.	.	T	0.25680	0.0625	N	0.25380	0.74	0.09310	N	1	B	0.27013	0.166	B	0.32090	0.14	T	0.30327	-0.9982	9	0.20519	T	0.43	.	4.76	0.13102	0.2792:0.264:0.0:0.4568	.	643	Q96QF7	ACRC_HUMAN	R	643	ENSP00000362800:H643R;ENSP00000362799:H643R	ENSP00000362799:H643R	H	+	2	0	ACRC	70749107	0.512000	0.26186	0.433000	0.26760	0.062000	0.15995	0.399000	0.20916	0.200000	0.20447	-0.776000	0.03382	CAT		0.458	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			7	5	0	0	0	1	0	7	5				
CARNS1	57571	broad.mit.edu	37	11	67191929	67191929	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr11:67191929G>A	ENST00000307823.3	+	9	2793	c.2341G>A	c.(2341-2343)Gag>Aag	p.E781K	CARNS1_ENST00000423745.2_Missense_Mutation_p.E781K|CARNS1_ENST00000531040.1_Missense_Mutation_p.E878K|CARNS1_ENST00000445895.2_Missense_Mutation_p.E904K	NM_020811.1	NP_065862.1	A5YM72	CRNS1_HUMAN	carnosine synthase 1	781					ATP catabolic process (GO:0006200)|carnosine biosynthetic process (GO:0035499)		ATP binding (GO:0005524)|ATPase activity (GO:0016887)|carnosine synthase activity (GO:0047730)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						GGTGCCTGGCGAGTATGAGGA	0.697																																						ENST00000445895.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						c.(2710-2712)Gag>Aag		carnosine synthase 1							23.0	28.0	26.0					11																	67191929		2122	4222	6344	SO:0001583	missense	57571				carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding	g.chr11:67191929G>A		CCDS44658.1, CCDS53667.1	11q13.1	2010-03-25	2010-03-25	2010-03-25	ENSG00000172508	ENSG00000172508			29268	protein-coding gene	gene with protein product		613368	"""ATP-grasp domain containing 1"""	ATPGD1		20097752	Standard	NM_020811		Approved	KIAA1394	uc010rpr.2	A5YM72		ENST00000307823.3:c.2341G>A	11.37:g.67191929G>A	ENSP00000308268:p.Glu781Lys					CARNS1_ENST00000307823.3_Missense_Mutation_p.E781K|CARNS1_ENST00000531040.1_Missense_Mutation_p.E878K|CARNS1_ENST00000423745.2_Missense_Mutation_p.E781K	p.E904K			A5YM72	CRNS1_HUMAN			9	2824	+			781					A8K1M3|B4DFC6|E9PK38|F5H427|Q8N467|Q9P2F3	Missense_Mutation	SNP	ENST00000307823.3	37	c.2710G>A	CCDS44658.1	.	.	.	.	.	.	.	.	.	.	g	9.722	1.159913	0.21454	.	.	ENSG00000172508	ENST00000531040;ENST00000307823;ENST00000542831;ENST00000423745;ENST00000445895	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	5.41	0.0279	0.14156	.	0.717118	0.12491	N	0.464201	T	0.11965	0.0291	L	0.27053	0.805	0.09310	N	0.999998	B;B	0.09022	0.001;0.002	B;B	0.06405	0.001;0.002	T	0.35076	-0.9803	10	0.21540	T	0.41	-9.5151	6.394	0.21603	0.2246:0.3885:0.3869:0.0	.	781;920	A5YM72;A5YM72-3	CRNS1_HUMAN;.	K	878;781;878;781;904	ENSP00000431670:E878K;ENSP00000308268:E781K;ENSP00000401519:E781K;ENSP00000389009:E904K	ENSP00000308268:E781K	E	+	1	0	CARNS1	66948505	0.945000	0.32115	0.131000	0.22000	0.561000	0.35649	1.385000	0.34408	-0.252000	0.09528	-0.494000	0.04653	GAG		0.697	CARNS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395501.1	NM_020811		6	11	0	0	0	1	0	6	11				
SPSB3	90864	broad.mit.edu	37	16	1828155	1828155	+	Missense_Mutation	SNP	G	G	C	rs62040027		TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr16:1828155G>C	ENST00000566339.1	-	4	802	c.472C>G	c.(472-474)Ccc>Gcc	p.P158A	SPSB3_ENST00000301717.4_Missense_Mutation_p.P158A	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	158	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						CCGTAGACGGGAGAGGTCATC	0.662																																						ENST00000566339.1																			0				endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						c.(472-474)Ccc>Gcc		splA/ryanodine receptor domain and SOCS box containing 3							47.0	47.0	47.0					16																	1828155		2199	4298	6497	SO:0001583	missense	90864				intracellular signal transduction			g.chr16:1828155G>C		CCDS32365.1	16p13.3	2008-02-05				ENSG00000162032			30629	protein-coding gene	gene with protein product		611659	"""chromosome 16 open reading frame 31"""	C16orf31		12076535	Standard	NM_080861		Approved	SSB-3	uc002cmu.3	Q6PJ21		ENST00000566339.1:c.472C>G	16.37:g.1828155G>C	ENSP00000457206:p.Pro158Ala					SPSB3_ENST00000301717.4_Missense_Mutation_p.P158A	p.P158A	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN			4	802	-			158			B30.2/SPRY.		D3DU78|Q49A96|Q86X18|Q8WXK5|Q96IE6|Q96RY2	Missense_Mutation	SNP	ENST00000566339.1	37	c.472C>G	CCDS32365.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646474	0.67358	.	.	ENSG00000162032	ENST00000301717;ENST00000360717	T	0.69040	-0.37	4.43	4.43	0.53597	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.71264	0.3319	L	0.33189	0.99	0.80722	D	1	D	0.58970	0.984	D	0.65773	0.938	T	0.68981	-0.5266	10	0.28530	T	0.3	0.224	15.6051	0.76664	0.0:0.0:1.0:0.0	.	158	Q6PJ21	SPSB3_HUMAN	A	158;30	ENSP00000301717:P158A	ENSP00000301717:P158A	P	-	1	0	SPSB3	1768156	1.000000	0.71417	0.047000	0.18901	0.760000	0.43138	9.248000	0.95456	2.008000	0.58898	0.561000	0.74099	CCC		0.662	SPSB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433512.1	NM_080861		7	68	0	0	0	1	0	7	68				
DLX5	1749	broad.mit.edu	37	7	96653736	96653736	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr7:96653736C>G	ENST00000222598.4	-	1	673	c.200G>C	c.(199-201)gGc>gCc	p.G67A	DLX5_ENST00000486603.2_Missense_Mutation_p.G67A|DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	67					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell proliferation (GO:0008283)|cellular response to BMP stimulus (GO:0071773)|embryonic limb morphogenesis (GO:0030326)|endochondral ossification (GO:0001958)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|olfactory pit development (GO:0060166)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)	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 positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GAGAGCTTTGCCATAGGAAGC	0.587																																						ENST00000222598.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20						c.(199-201)gGc>gCc		distal-less homeobox 5							60.0	62.0	61.0					7																	96653736		2203	4300	6503	SO:0001583	missense	1749				cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr7:96653736C>G		CCDS5647.1	7q21.3	2011-06-20	2005-12-22		ENSG00000105880	ENSG00000105880		"""Homeoboxes / ANTP class : NKL subclass"""	2918	protein-coding gene	gene with protein product		600028	"""distal-less homeo box 5"""			7907794	Standard	XM_005250185		Approved		uc003uon.3	P56178	OTTHUMG00000154200	ENST00000222598.4:c.200G>C	7.37:g.96653736C>G	ENSP00000222598:p.Gly67Ala					DLX5_ENST00000486603.2_Missense_Mutation_p.G67A|DLX5_ENST00000493764.1_5'UTR	p.G67A	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN			1	673	-	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		67					B7Z4P3|Q9UPL1	Missense_Mutation	SNP	ENST00000222598.4	37	c.200G>C	CCDS5647.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.593539	0.46214	.	.	ENSG00000105880	ENST00000222598	D	0.90844	-2.74	4.87	4.87	0.63330	.	0.052267	0.85682	D	0.000000	D	0.87669	0.6235	L	0.52206	1.635	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.17979	0.012;0.02	D	0.83492	0.0070	10	0.33940	T	0.23	-4.977	14.7002	0.69150	0.0:0.8547:0.1453:0.0	.	67;67	B7Z4P3;P56178	.;DLX5_HUMAN	A	67	ENSP00000222598:G67A	ENSP00000222598:G67A	G	-	2	0	DLX5	96491672	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.688000	0.61715	2.536000	0.85505	0.561000	0.74099	GGC		0.587	DLX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334371.2			26	109	0	0	0	1	0	26	109				
CHIAP2	149620	broad.mit.edu	37	1	111824255	111824255	+	RNA	SNP	C	C	T	rs6537691	byFrequency	TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr1:111824255C>T	ENST00000369743.4	+	0	139					NR_003928.1				chitinase, acidic pseudogene 2																		CTGATGACATCGACCCCTGCC	0.532													C|||	1007	0.201078	0.2428	0.1686	5008	,	,		17512	0.13		0.2306	False		,,,				2504	0.2106					ENST00000369743.4																			0																																																			149620							g.chr1:111824255C>T			1p13.2	2012-10-11			ENSG00000203878	ENSG00000203878			44463	pseudogene	pseudogene							Standard	NR_003928		Approved		uc009wgb.3		OTTHUMG00000012173		1.37:g.111824255C>T								NR_003928.1						0	139	+									RNA	SNP	ENST00000369743.4	37																																																																																						0.532	CHIAP2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000033667.3			4	54	0	0	0	1	0	4	54				
OR2M2	391194	broad.mit.edu	37	1	248343760	248343760	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr1:248343760T>C	ENST00000359682.2	+	1	473	c.473T>C	c.(472-474)aTt>aCt	p.I158T		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)			GATGGAATCATTGATGCTGTA	0.443																																						ENST00000359682.2																			0				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.(472-474)aTt>aCt		olfactory receptor, family 2, subfamily M, member 2							195.0	196.0	195.0					1																	248343760		2203	4300	6503	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343760T>C	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.473T>C	1.37:g.248343760T>C	ENSP00000352710:p.Ile158Thr						p.I158T	NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	473	+	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)		158					A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.473T>C	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	t	8.455	0.853864	0.17106	.	.	ENSG00000198601	ENST00000359682	T	0.38077	1.16	1.88	1.88	0.25563	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31188	U	0.008090	T	0.29190	0.0726	L	0.54323	1.7	0.09310	N	1	B	0.33919	0.432	B	0.34824	0.19	T	0.19516	-1.0303	10	0.56958	D	0.05	.	5.1532	0.15021	0.0:0.1535:0.0:0.8465	.	158	Q96R28	OR2M2_HUMAN	T	158	ENSP00000352710:I158T	ENSP00000352710:I158T	I	+	2	0	OR2M2	246410383	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	1.081000	0.30791	0.873000	0.35799	0.373000	0.22412	ATT		0.443	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		107	157	0	0	0	1	0	107	157				
MYOZ2	51778	broad.mit.edu	37	4	120079303	120079303	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr4:120079303C>T	ENST00000307128.5	+	4	586	c.373C>T	c.(373-375)Cca>Tca	p.P125S		NM_016599.4	NP_057683.1			myozenin 2									p.P125S(1)		endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CAACATTGCTCCAGGTAACCA	0.433																																						ENST00000307128.5																			1	Substitution - Missense(1)	p.P125S(1)	skin(1)	endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(373-375)Cca>Tca		myozenin 2							118.0	112.0	114.0					4																	120079303		2203	4300	6503	SO:0001583	missense	51778						protein phosphatase 2B binding	g.chr4:120079303C>T	AF249873	CCDS3711.1	4q26-q27	2014-09-17	2002-01-07	2002-01-11	ENSG00000172399	ENSG00000172399			1330	protein-coding gene	gene with protein product		605602	"""chromosome 4 open reading frame 5"""	C4orf5		8619474, 9110174	Standard	NM_016599		Approved	CS-1	uc003icp.4	Q9NPC6	OTTHUMG00000132968	ENST00000307128.5:c.373C>T	4.37:g.120079303C>T	ENSP00000306997:p.Pro125Ser						p.P125S	NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN			4	586	+			125						Missense_Mutation	SNP	ENST00000307128.5	37	c.373C>T	CCDS3711.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.839878	0.91117	.	.	ENSG00000172399	ENST00000307128	T	0.74106	-0.81	5.55	5.55	0.83447	.	0.227420	0.46442	D	0.000284	D	0.84629	0.5514	M	0.72353	2.195	0.80722	D	1	D	0.59357	0.985	P	0.61070	0.883	D	0.84668	0.0710	10	0.51188	T	0.08	-11.8046	19.4973	0.95079	0.0:1.0:0.0:0.0	.	125	Q9NPC6	MYOZ2_HUMAN	S	125	ENSP00000306997:P125S	ENSP00000306997:P125S	P	+	1	0	MYOZ2	120298751	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	6.801000	0.75170	2.608000	0.88229	0.655000	0.94253	CCA		0.433	MYOZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256526.2			60	44	0	0	0	1	0	60	44				
GLRA1	2741	broad.mit.edu	37	5	151266315	151266315	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr5:151266315G>C	ENST00000455880.2	-	3	505	c.219C>G	c.(217-219)atC>atG	p.I73M	GLRA1_ENST00000545569.1_De_novo_Start_InFrame|GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000274576.4_Missense_Mutation_p.I73M			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	73					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CAAAGCTGTTGATGAAAATGT	0.468																																						ENST00000274576.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23						c.(217-219)atC>atG		glycine receptor, alpha 1	Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						123.0	112.0	116.0					5																	151266315		2203	4300	6503	SO:0001583	missense	2741				muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity	g.chr5:151266315G>C		CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"""Ligand-gated ion channels / Glycine receptors"""	4326	protein-coding gene	gene with protein product	"""startle disease/hyperekplexia"", ""stiff person syndrome"""	138491	"""glycine receptor, alpha 1 (startle disease/hyperekplexia)"""	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.219C>G	5.37:g.151266315G>C	ENSP00000411593:p.Ile73Met					GLRA1_ENST00000545569.1_De_novo_Start_InFrame|GLRA1_ENST00000455880.2_Missense_Mutation_p.I73M|GLRA1_ENST00000471351.2_5'UTR	p.I73M	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		3	511	-		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	73					B2R6T3|Q14C77|Q6DJV9	Missense_Mutation	SNP	ENST00000455880.2	37	c.219C>G	CCDS54942.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.697937	0.68386	.	.	ENSG00000145888	ENST00000274576;ENST00000455880	T;T	0.80566	-1.39;-1.39	5.45	4.57	0.56435	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.87688	0.6240	M	0.74258	2.255	0.80722	D	1	D;D	0.63880	0.993;0.976	D;P	0.72075	0.976;0.89	D	0.88313	0.2957	10	0.87932	D	0	.	10.7323	0.46104	0.1461:0.0:0.8539:0.0	.	73;73	P23415;P23415-2	GLRA1_HUMAN;.	M	73	ENSP00000274576:I73M;ENSP00000411593:I73M	ENSP00000274576:I73M	I	-	3	3	GLRA1	151246508	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.263000	0.72521	2.559000	0.86315	0.655000	0.94253	ATC		0.468	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1			37	27	0	0	0	1	0	37	27				
FER1L5	90342	broad.mit.edu	37	2	97365786	97365786	+	RNA	SNP	T	T	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr2:97365786T>C	ENST00000457909.1	+	0	4402							A0AVI2	FR1L5_HUMAN	fer-1-like family member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CTGTTTTCTATAATGGGAAAA	0.532																																						ENST00000457909.1																			0				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38								fer-1-like 5 (C. elegans)							40.0	41.0	41.0					2																	97365786		1899	4124	6023			90342					integral to membrane		g.chr2:97365786T>C	BC126368		2q11.2	2014-06-27	2014-06-27		ENSG00000249715	ENSG00000249715			19044	protein-coding gene	gene with protein product			"""fer-1-like 5 (C. elegans)"""				Standard	XM_006712826		Approved	DKFZp434I0121	uc010fia.3	A0AVI2	OTTHUMG00000154929		2.37:g.97365786T>C										A0AVI2	FR1L5_HUMAN			0	4402	+								Q17RH2|Q6ZU24	RNA	SNP	ENST00000457909.1	37																																																																																						0.532	FER1L5-001	KNOWN	basic|exp_conf	retained_intron	pseudogene	OTTHUMT00000339030.1	NM_001077400		16	38	0	0	0	1	0	16	38				
PUM1	9698	broad.mit.edu	37	1	31532106	31532106	+	Missense_Mutation	SNP	T	T	C	rs539966622		TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr1:31532106T>C	ENST00000257075.5	-	2	401	c.308A>G	c.(307-309)tAt>tGt	p.Y103C	PUM1_ENST00000440538.2_Missense_Mutation_p.Y103C|PUM1_ENST00000373747.3_Missense_Mutation_p.Y103C|PUM1_ENST00000423018.2_Missense_Mutation_p.Y103C|PUM1_ENST00000424085.2_Missense_Mutation_p.Y103C|PUM1_ENST00000373741.4_Missense_Mutation_p.Y139C|PUM1_ENST00000373742.2_Missense_Mutation_p.Y139C|PUM1_ENST00000426105.2_Missense_Mutation_p.Y103C	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	103					membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		GCTATTATTATAGCCGCCTCC	0.468													T|||	1	0.000199681	0.0	0.0	5008	,	,		19553	0.001		0.0	False		,,,				2504	0.0					ENST00000373747.3																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(307-309)tAt>tGt		pumilio RNA-binding family member 1							111.0	103.0	106.0					1																	31532106		2203	4300	6503	SO:0001583	missense	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31532106T>C	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.308A>G	1.37:g.31532106T>C	ENSP00000257075:p.Tyr103Cys					PUM1_ENST00000426105.2_Missense_Mutation_p.Y103C|PUM1_ENST00000424085.2_Missense_Mutation_p.Y103C|PUM1_ENST00000373741.4_Missense_Mutation_p.Y139C|PUM1_ENST00000373742.2_Missense_Mutation_p.Y139C|PUM1_ENST00000423018.2_Missense_Mutation_p.Y103C|PUM1_ENST00000440538.2_Missense_Mutation_p.Y103C|PUM1_ENST00000257075.5_Missense_Mutation_p.Y103C	p.Y103C	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	2	407	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	103					A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	c.308A>G	CCDS338.1	.	.	.	.	.	.	.	.	.	.	T	14.27	2.486207	0.44147	.	.	ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742;ENST00000543952	T;T;T;T;T;T;T;T	0.22945	1.93;2.24;2.51;2.5;2.47;2.48;2.26;1.93	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000003	T	0.37489	0.1005	L	0.28115	0.83	0.30345	N	0.78535	D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D	0.79784	0.984;0.984;0.984;0.993;0.984;0.984	T	0.24297	-1.0164	10	0.38643	T	0.18	-6.5506	15.348	0.74355	0.0:0.0:0.0:1.0	.	139;103;139;103;103;103	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0	.;.;.;.;PUM1_HUMAN;.	C	103;103;103;103;103;103;139;103;139;103	ENSP00000400141:Y103C;ENSP00000257075:Y103C;ENSP00000362852:Y103C;ENSP00000391723:Y103C;ENSP00000401777:Y103C;ENSP00000362846:Y139C;ENSP00000399440:Y103C;ENSP00000362847:Y139C	ENSP00000257075:Y103C	Y	-	2	0	PUM1	31304693	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.223000	0.72257	2.218000	0.71995	0.533000	0.62120	TAT		0.468	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			65	83	0	0	0	1	0	65	83				
CACNA2D1	781	broad.mit.edu	37	7	82072683	82072683	+	Silent	SNP	G	G	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr7:82072683G>A	ENST00000356253.5	-	1	348	c.93C>T	c.(91-93)gtC>gtT	p.V31V	CACNA2D1_ENST00000423588.1_Silent_p.V31V|CACNA2D1_ENST00000356860.3_Silent_p.V31V			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	31					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	cgACTTACGTGACGGCCGAAG	0.697																																						ENST00000356860.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(91-93)gtC>gtT		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						21.0	22.0	21.0					7																	82072683		2201	4298	6499	SO:0001819	synonymous_variant	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:82072683G>A	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.93C>T	7.37:g.82072683G>A						CACNA2D1_ENST00000423588.1_Silent_p.V31V|CACNA2D1_ENST00000356253.5_Silent_p.V31V	p.V31V	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			1	431	-			31					Q17R45|Q9UD80|Q9UD81|Q9UD82	Silent	SNP	ENST00000356253.5	37	c.93C>T																																																																																					0.697	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				8	42	0	0	0	1	0	8	42				
IFT122	55764	broad.mit.edu	37	3	129168739	129168739	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr3:129168739G>A	ENST00000348417.2	+	2	144	c.67G>A	c.(67-69)Gat>Aat	p.D23N	IFT122_ENST00000507564.1_Missense_Mutation_p.D23N|IFT122_ENST00000440957.2_De_novo_Start_OutOfFrame|IFT122_ENST00000349441.2_Missense_Mutation_p.D23N|IFT122_ENST00000431818.2_De_novo_Start_InFrame|IFT122_ENST00000504021.1_Missense_Mutation_p.D23N|IFT122_ENST00000347300.2_Missense_Mutation_p.D23N|IFT122_ENST00000296266.3_Missense_Mutation_p.D23N	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	23					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						ATTTAAGCCTGATGGAACTCA	0.408																																						ENST00000440957.2																			0				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52								intraflagellar transport 122 homolog (Chlamydomonas)							199.0	190.0	193.0					3																	129168739		2203	4300	6503	SO:0001583	missense	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129168739G>A	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.67G>A	3.37:g.129168739G>A	ENSP00000324005:p.Asp23Asn					IFT122_ENST00000504021.1_Missense_Mutation_p.D23N|IFT122_ENST00000349441.2_Missense_Mutation_p.D23N|IFT122_ENST00000348417.2_Missense_Mutation_p.D23N|IFT122_ENST00000347300.2_Missense_Mutation_p.D23N|IFT122_ENST00000296266.3_Missense_Mutation_p.D23N|IFT122_ENST00000507564.1_Missense_Mutation_p.D23N|IFT122_ENST00000431818.2_De_novo_Start_InFrame				Q9HBG6	IF122_HUMAN			0	75	+								B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Translation_Start_Site	SNP	ENST00000348417.2	37		CCDS3061.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027656	0.93518	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384	T;T;T;T;T;T	0.70282	-0.47;1.3;1.3;1.21;1.21;-0.47	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.86247	0.5887	M	0.85197	2.74	0.80722	D	1	D;D;D;D;D;D	0.76494	0.997;0.993;0.998;0.999;0.997;0.998	D;P;P;D;D;D	0.81914	0.98;0.797;0.882;0.945;0.989;0.995	D	0.87651	0.2528	10	0.72032	D	0.01	-19.0305	18.6261	0.91340	0.0:0.0:1.0:0.0	.	23;23;23;23;23;23	E7EQF4;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;IF122_HUMAN;.	N	23	ENSP00000323973:D23N;ENSP00000296266:D23N;ENSP00000425536:D23N;ENSP00000422179:D23N;ENSP00000324165:D23N;ENSP00000324005:D23N	ENSP00000296266:D23N	D	+	1	0	IFT122	130651429	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	6.650000	0.74368	2.697000	0.92050	0.655000	0.94253	GAT		0.408	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		12	55	0	0	0	1	0	12	55				
CSNK2A2	1459	broad.mit.edu	37	16	58230691	58230691	+	Silent	SNP	T	T	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr16:58230691T>C	ENST00000262506.3	-	2	345	c.162A>G	c.(160-162)gtA>gtG	p.V54V	RP11-459F6.1_ENST00000561923.1_RNA|RN7SL645P_ENST00000496148.2_RNA	NM_001896.2	NP_001887.1	P19784	CSK22_HUMAN	casein kinase 2, alpha prime polypeptide	54	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)	1						TGGCCTCAAATACTTCACTAT	0.418																																					Melanoma(54;119 1219 18349 35700 39738)	ENST00000262506.3																			0				central_nervous_system(1)	1						c.(160-162)gtA>gtG		casein kinase 2, alpha prime polypeptide							211.0	205.0	207.0					16																	58230691		2197	4300	6497	SO:0001819	synonymous_variant	1459				axon guidance|Wnt receptor signaling pathway	cytosol|nucleus	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	g.chr16:58230691T>C	M55268	CCDS10794.1	16q21	2013-01-17			ENSG00000070770	ENSG00000070770			2459	protein-coding gene	gene with protein product		115442				2174700, 1766873	Standard	NM_001896		Approved	CSNK2A1	uc002enc.3	P19784	OTTHUMG00000133488	ENST00000262506.3:c.162A>G	16.37:g.58230691T>C							p.V54V	NM_001896.2	NP_001887.1	P19784	CSK22_HUMAN			2	345	-			54			Protein kinase.			Silent	SNP	ENST00000262506.3	37	c.162A>G	CCDS10794.1																																																																																				0.418	CSNK2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257386.2	NM_001896		47	120	0	0	0	1	0	47	120				
PDGFD	80310	broad.mit.edu	37	11	103780432	103780432	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr11:103780432G>T	ENST00000393158.2	-	7	1282	c.1103C>A	c.(1102-1104)cCa>cAa	p.P368Q	PDGFD_ENST00000302251.5_Missense_Mutation_p.P362Q			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	368					cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		TTATCGAGGTGGTCTTGAGCT	0.463																																						ENST00000302251.5																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23						c.(1084-1086)cCa>cAa		platelet derived growth factor D							302.0	249.0	267.0					11																	103780432		2202	4299	6501	SO:0001583	missense	80310				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity	g.chr11:103780432G>T	AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"""spinal cord derived growth factor B"""	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.1103C>A	11.37:g.103780432G>T	ENSP00000376865:p.Pro368Gln					PDGFD_ENST00000393158.2_Missense_Mutation_p.P368Q	p.P362Q	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)	7	1536	-		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)	368					A8K9T6|Q9BWV5	Missense_Mutation	SNP	ENST00000393158.2	37	c.1085C>A	CCDS41703.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422191	0.83559	.	.	ENSG00000170962	ENST00000393158;ENST00000302251	T;T	0.45276	0.9;0.91	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.61702	0.2368	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.61148	-0.7121	10	0.87932	D	0	-18.1524	20.3057	0.98631	0.0:0.0:1.0:0.0	.	368;362	Q9GZP0;Q9GZP0-2	PDGFD_HUMAN;.	Q	368;362	ENSP00000376865:P368Q;ENSP00000302193:P362Q	ENSP00000302193:P362Q	P	-	2	0	PDGFD	103285642	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.154000	0.77437	2.791000	0.96007	0.655000	0.94253	CCA		0.463	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208		29	52	1	0	7.01153e-11	1	7.58711e-11	29	52				
OR11G2	390439	broad.mit.edu	37	14	20666183	20666183	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr14:20666183G>T	ENST00000357366.3	+	1	689	c.689G>T	c.(688-690)gGc>gTc	p.G230V		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	230						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(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TGCAAAAAAGGCCCTGTGATA	0.463																																						ENST00000357366.3																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(688-690)gGc>gTc		olfactory receptor, family 11, subfamily G, member 2							139.0	138.0	138.0					14																	20666183		2203	4300	6503	SO:0001583	missense	390439				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20666183G>T		CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"""GPCR / Class A : Olfactory receptors"""	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.689G>T	14.37:g.20666183G>T	ENSP00000349930:p.Gly230Val						p.G230V	NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	689	+	all_cancers(95;0.00108)		230					Q6IF09|Q96R33	Missense_Mutation	SNP	ENST00000357366.3	37	c.689G>T	CCDS32032.1	.	.	.	.	.	.	.	.	.	.	g	0.040	-1.289078	0.01387	.	.	ENSG00000196832	ENST00000357366	T	0.00063	8.78	4.93	0.818	0.18778	GPCR, rhodopsin-like superfamily (1);	0.809795	0.10548	N	0.661787	T	0.00073	0.0002	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08351	-1.0726	10	0.51188	T	0.08	.	4.4386	0.11562	0.2711:0.5172:0.1323:0.0794	.	230	Q8NGC1	O11G2_HUMAN	V	230	ENSP00000349930:G230V	ENSP00000349930:G230V	G	+	2	0	OR11G2	19736023	0.000000	0.05858	0.005000	0.12908	0.052000	0.14988	-0.081000	0.11321	-0.012000	0.14223	-0.799000	0.03217	GGC		0.463	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1			29	80	1	0	9.80776e-20	1	1.11978e-19	29	80				
GBP6	163351	broad.mit.edu	37	1	89849796	89849796	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr1:89849796G>C	ENST00000370456.4	+	10	1706	c.1613G>C	c.(1612-1614)aGa>aCa	p.R538T	GBP6_ENST00000535065.1_Missense_Mutation_p.R408T	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	538					cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		CAGATGGAGAGAGAACACCTA	0.502																																						ENST00000370456.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1612-1614)aGa>aCa		guanylate binding protein family, member 6							105.0	91.0	96.0					1																	89849796		2203	4300	6503	SO:0001583	missense	163351						GTP binding|GTPase activity	g.chr1:89849796G>C	BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	ENST00000370456.4:c.1613G>C	1.37:g.89849796G>C	ENSP00000359485:p.Arg538Thr					GBP6_ENST00000535065.1_Missense_Mutation_p.R408T	p.R538T	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0398)	10	1706	+		Lung NSC(277;0.0908)	538					A2RRM3|Q6ZN86|Q7Z3F0	Missense_Mutation	SNP	ENST00000370456.4	37	c.1613G>C	CCDS723.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.806656	0.31961	.	.	ENSG00000183347	ENST00000544311;ENST00000370456;ENST00000535065	T;T	0.02916	4.11;4.11	4.89	3.98	0.46160	Guanylate-binding protein, C-terminal (3);	0.530984	0.19659	N	0.109020	T	0.03053	0.0090	M	0.92833	3.35	0.09310	N	1	B	0.30281	0.275	B	0.33620	0.167	T	0.31166	-0.9953	10	0.87932	D	0	-15.6297	6.1023	0.20053	0.0974:0.0:0.7165:0.1861	.	538	Q6ZN66	GBP6_HUMAN	T	509;538;408	ENSP00000359485:R538T;ENSP00000442530:R408T	ENSP00000359485:R538T	R	+	2	0	GBP6	89622384	0.001000	0.12720	0.019000	0.16419	0.110000	0.19582	0.424000	0.21330	1.051000	0.40369	0.591000	0.81541	AGA		0.502	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028001.1	NM_198460		7	33	0	0	0	1	0	7	33				
GLIS3	169792	broad.mit.edu	37	9	4117860	4117860	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr9:4117860C>T	ENST00000324333.10	-	3	1346	c.1153G>A	c.(1153-1155)Ggt>Agt	p.G385S	GLIS3_ENST00000381971.3_Missense_Mutation_p.G540S	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	385					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|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)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CGAGGGCAACCGGCCCAGAAG	0.577																																						ENST00000324333.10																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(1153-1155)Ggt>Agt		GLIS family zinc finger 3							150.0	136.0	141.0					9																	4117860		2203	4300	6503	SO:0001583	missense	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:4117860C>T	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.1153G>A	9.37:g.4117860C>T	ENSP00000325494:p.Gly385Ser					GLIS3_ENST00000381971.3_Missense_Mutation_p.G540S	p.G385S	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	3	1346	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	385					B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	37	c.1153G>A	CCDS6451.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463507	0.84425	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	D;T	0.93859	-3.3;2.44	5.51	5.51	0.81932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.52532	D	0.000066	D	0.96204	0.8762	M	0.72118	2.19	0.80722	D	1	D;P;D;D;D	0.89917	0.971;0.953;0.988;0.998;1.0	P;P;P;D;D	0.64042	0.482;0.515;0.664;0.91;0.921	D	0.96333	0.9245	10	0.72032	D	0.01	.	19.4269	0.94746	0.0:1.0:0.0:0.0	.	48;53;53;540;385	Q1PHK4;Q1PHK2;Q1PHK3;Q8NEA6-2;Q8NEA6	.;.;.;.;GLIS3_HUMAN	S	385;540	ENSP00000325494:G385S;ENSP00000371398:G540S	ENSP00000325494:G385S	G	-	1	0	GLIS3	4107860	1.000000	0.71417	0.912000	0.35992	0.613000	0.37349	7.792000	0.85828	2.595000	0.87683	0.655000	0.94253	GGT		0.577	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		47	120	0	0	0	1	0	47	120				
NUP155	9631	broad.mit.edu	37	5	37293006	37293006	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr5:37293006G>C	ENST00000231498.3	-	34	4215	c.4012C>G	c.(4012-4014)Ccc>Gcc	p.P1338A	NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000381843.2_Missense_Mutation_p.P1279A|NUP155_ENST00000513532.1_Missense_Mutation_p.P1274A	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1338					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACTTGGCTGGGATTCTCAACA	0.303																																						ENST00000231498.3																			0				endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62						c.(4012-4014)Ccc>Gcc		nucleoporin 155kDa							81.0	93.0	89.0					5																	37293006		2203	4293	6496	SO:0001583	missense	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37293006G>C	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.4012C>G	5.37:g.37293006G>C	ENSP00000231498:p.Pro1338Ala					NUP155_ENST00000513532.1_Missense_Mutation_p.P1274A|NUP155_ENST00000381843.2_Missense_Mutation_p.P1279A|NUP155_ENST00000502533.1_5'UTR	p.P1338A	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		34	4215	-	all_lung(31;0.000137)		1338					Q9UBE9|Q9UFL5	Missense_Mutation	SNP	ENST00000231498.3	37	c.4012C>G	CCDS3921.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.181664	0.38511	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	T;T;T	0.76316	-1.01;-1.0;-1.0	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.72566	0.3476	L	0.53249	1.67	0.80722	D	1	B;B	0.33964	0.217;0.434	B;B	0.31751	0.135;0.113	T	0.69628	-0.5094	10	0.09843	T	0.71	.	19.2479	0.93909	0.0:0.0:1.0:0.0	.	1274;1338	E9PF10;O75694	.;NU155_HUMAN	A	1338;1279;1300;1274	ENSP00000231498:P1338A;ENSP00000371265:P1279A;ENSP00000422019:P1274A	ENSP00000231498:P1338A	P	-	1	0	NUP155	37328763	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.575000	0.90766	2.615000	0.88500	0.586000	0.80456	CCC		0.303	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		13	43	0	0	0	1	0	13	43				
TOM1L2	146691	broad.mit.edu	37	17	17783000	17783000	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr17:17783000C>G	ENST00000379504.3	-	7	801	c.718G>C	c.(718-720)Gag>Cag	p.E240Q	TOM1L2_ENST00000318094.10_Missense_Mutation_p.E195Q|TOM1L2_ENST00000395739.4_Missense_Mutation_p.E195Q|TOM1L2_ENST00000542206.1_Missense_Mutation_p.E92Q|TOM1L2_ENST00000540946.1_Missense_Mutation_p.E142Q|TOM1L2_ENST00000535933.1_Missense_Mutation_p.E187Q|TOM1L2_ENST00000581396.1_Missense_Mutation_p.E190Q	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	240	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	clathrin binding (GO:0030276)|protein kinase binding (GO:0019901)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					GTTAACATCTCAGACATGACT	0.527																																					Melanoma(192;2505 2909 14455 25269)	ENST00000581396.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10						c.(568-570)Gag>Cag		target of myb1-like 2 (chicken)							168.0	135.0	146.0					17																	17783000		2203	4300	6503	SO:0001583	missense	146691				intracellular protein transport	intracellular		g.chr17:17783000C>G	AJ230803	CCDS32584.1, CCDS42270.1, CCDS74000.1, CCDS74001.1, CCDS74002.1, CCDS74003.1	17p11.2	2008-07-03	2001-11-28		ENSG00000175662	ENSG00000175662			11984	protein-coding gene	gene with protein product		615519	"""target of myb1 (chicken) homolog-like 1"""			10036180	Standard	NM_001082968		Approved		uc002grz.4	Q6ZVM7	OTTHUMG00000059353	ENST00000379504.3:c.718G>C	17.37:g.17783000C>G	ENSP00000368818:p.Glu240Gln					TOM1L2_ENST00000318094.10_Missense_Mutation_p.E195Q|TOM1L2_ENST00000535933.1_Missense_Mutation_p.E187Q|TOM1L2_ENST00000379504.3_Missense_Mutation_p.E240Q|TOM1L2_ENST00000395739.4_Missense_Mutation_p.E195Q|TOM1L2_ENST00000542206.1_Missense_Mutation_p.E92Q|TOM1L2_ENST00000540946.1_Missense_Mutation_p.E142Q	p.E190Q	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN			6	664	-	all_neural(463;0.228)		240					B7Z2L7|B7Z7F4|Q86V61|Q8TDE7|Q96M88	Missense_Mutation	SNP	ENST00000379504.3	37	c.568G>C	CCDS42270.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.768038	0.90020	.	.	ENSG00000175662	ENST00000379504;ENST00000318094;ENST00000395739;ENST00000535933;ENST00000540946;ENST00000542206;ENST00000537091	T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.79	5.59	5.59	0.84812	GAT (2);	0.000000	0.85682	D	0.000000	T	0.74794	0.3763	M	0.86573	2.825	0.80722	D	1	D;P;D;D;D;D;D	0.89917	1.0;0.573;1.0;1.0;1.0;1.0;1.0	D;P;D;D;D;D;D	0.97110	0.999;0.46;0.994;1.0;0.999;1.0;0.999	T	0.78773	-0.2073	10	0.72032	D	0.01	-23.6392	19.5814	0.95468	0.0:1.0:0.0:0.0	.	190;142;92;187;195;240;190	B7Z8F0;B7Z2U2;F5H3S6;B7Z2L7;Q6ZVM7-3;Q6ZVM7;Q6ZVM7-2	.;.;.;.;.;TM1L2_HUMAN;.	Q	240;190;195;187;142;92;190	ENSP00000368818:E240Q;ENSP00000379088:E195Q;ENSP00000438621:E187Q;ENSP00000437655:E142Q;ENSP00000445188:E92Q	ENSP00000312860:E190Q	E	-	1	0	TOM1L2	17723725	1.000000	0.71417	0.995000	0.50966	0.999000	0.98932	7.770000	0.85390	2.617000	0.88574	0.650000	0.86243	GAG		0.527	TOM1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131928.1			37	153	0	0	0	1	0	37	153				
SEMA4D	10507	broad.mit.edu	37	9	91978722	91978722	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr9:91978722G>A	ENST00000420987.1	-	18	2472	c.2026C>T	c.(2026-2028)Cgc>Tgc	p.R676C	SEMA4D_ENST00000469653.1_5'UTR|SEMA4D_ENST00000339861.4_Missense_Mutation_p.R676C|SEMA4D_ENST00000420101.2_Missense_Mutation_p.R61C|SEMA4D_ENST00000455551.2_Missense_Mutation_p.R676C|SEMA4D_ENST00000343780.4_Missense_Mutation_p.R676C	NM_001142287.1	NP_001135759.1	Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	0					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						ACAGAGCAGCGATACTCAGCG	0.572																																						ENST00000420987.1																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						c.(2026-2028)Cgc>Tgc		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D							109.0	86.0	94.0					9																	91978722		2203	4300	6503	SO:0001583	missense	10507				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding	g.chr9:91978722G>A	U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"""Semaphorins"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10732	protein-coding gene	gene with protein product	"""M-sema G"""	601866	"""chromosome 9 open reading frame 164"""	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000420987.1:c.2026C>T	9.37:g.91978722G>A	ENSP00000391733:p.Arg676Cys					SEMA4D_ENST00000455551.2_Missense_Mutation_p.R676C|SEMA4D_ENST00000420101.2_Missense_Mutation_p.R61C|SEMA4D_ENST00000343780.4_Missense_Mutation_p.R676C|SEMA4D_ENST00000469653.1_5'UTR|SEMA4D_ENST00000339861.4_Missense_Mutation_p.R676C	p.R676C	NM_001142287.1	NP_001135759.1	Q92854	SEM4D_HUMAN			18	2472	-			0					B2RPM6|Q7Z5S4|Q8N8B0	Missense_Mutation	SNP	ENST00000420987.1	37	c.2026C>T	CCDS47991.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004015	0.35320	.	.	ENSG00000187764	ENST00000339861;ENST00000420987;ENST00000420101;ENST00000455551;ENST00000343780	T;T;T;T	0.14266	2.52;2.52;2.52;2.52	5.05	3.0	0.34707	.	0.446614	0.20739	N	0.086563	T	0.08268	0.0206	.	.	.	0.80722	D	1	B	0.15141	0.012	B	0.08055	0.003	T	0.20672	-1.0268	9	0.37606	T	0.19	.	3.2788	0.06908	0.1876:0.0:0.3333:0.4791	.	676	Q92854-2	.	C	676;676;61;676;676	ENSP00000344923:R676C;ENSP00000391733:R676C;ENSP00000411981:R676C;ENSP00000343418:R676C	ENSP00000344923:R676C	R	-	1	0	SEMA4D	91168542	0.999000	0.42202	1.000000	0.80357	0.105000	0.19272	0.547000	0.23299	1.302000	0.44855	0.462000	0.41574	CGC		0.572	SEMA4D-203	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402418.2	NM_006378		24	47	0	0	0	1	0	24	47				
KDM7A	80853	broad.mit.edu	37	7	139876567	139876567	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr7:139876567G>C	ENST00000397560.2	-	1	268	c.171C>G	c.(169-171)atC>atG	p.I57M	JHDM1D-AS1_ENST00000566699.1_RNA|JHDM1D_ENST00000006967.5_Missense_Mutation_p.I57M	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		57					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					AGTCCTTGCAGATATCGCACT	0.731																																						ENST00000397560.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22						c.(169-171)atC>atG									21.0	28.0	25.0					7																	139876567		2187	4294	6481	SO:0001583	missense	80853				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr7:139876567G>C																												ENST00000397560.2:c.171C>G	7.37:g.139876567G>C	ENSP00000380692:p.Ile57Met					JHDM1D_ENST00000006967.5_Missense_Mutation_p.I57M	p.I57M	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN			1	268	-	Melanoma(164;0.0142)		57					A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP	ENST00000397560.2	37	c.171C>G	CCDS43658.1	.	.	.	.	.	.	.	.	.	.	g	11.12	1.544724	0.27563	.	.	ENSG00000006459	ENST00000397560;ENST00000006967	T;T	0.09350	2.99;2.99	2.18	1.27	0.21489	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.074979	0.51477	U	0.000092	T	0.07413	0.0187	L	0.28014	0.82	0.41351	D	0.98736	P	0.38800	0.648	B	0.43701	0.428	T	0.44559	-0.9320	10	0.15499	T	0.54	.	4.3489	0.11146	0.1431:0.0:0.6391:0.2178	.	57	Q6ZMT4	KDM7_HUMAN	M	57	ENSP00000380692:I57M;ENSP00000006967:I57M	ENSP00000006967:I57M	I	-	3	3	JHDM1D	139523036	0.970000	0.33590	0.918000	0.36340	0.900000	0.52787	0.763000	0.26517	0.099000	0.17552	-0.795000	0.03280	ATC		0.731	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			15	72	0	0	0	1	0	15	72				
RBBP8NL	140893	broad.mit.edu	37	20	60989073	60989073	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr20:60989073G>C	ENST00000252998.1	-	10	1490	c.1334C>G	c.(1333-1335)tCg>tGg	p.S445W		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	445						extracellular space (GO:0005615)											GCCCCACTCCGAGAGGTCCAG	0.736																																						ENST00000252998.1																			0											c.(1333-1335)tCg>tGg		RBBP8 N-terminal like							7.0	9.0	8.0					20																	60989073		2163	4245	6408	SO:0001583	missense	140893							g.chr20:60989073G>C	AL121832	CCDS13498.1	20q13.33	2012-10-30	2012-10-30	2012-10-30	ENSG00000130701	ENSG00000130701			16144	protein-coding gene	gene with protein product	"""hypothetical protein LOC140893"""		"""chromosome 20 open reading frame 151"""	C20orf151		11780052	Standard	NM_080833		Approved	dJ908M14.3	uc002ycw.2	Q8NC74	OTTHUMG00000032913	ENST00000252998.1:c.1334C>G	20.37:g.60989073G>C	ENSP00000252998:p.Ser445Trp						p.S445W	NM_080833.2	NP_543023.2					10	1490	-								B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Missense_Mutation	SNP	ENST00000252998.1	37	c.1334C>G	CCDS13498.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.638815	0.67130	.	.	ENSG00000130701	ENST00000252998	T	0.37584	1.19	4.84	4.84	0.62591	.	0.113565	0.39834	N	0.001249	T	0.56790	0.2009	L	0.57536	1.79	0.52501	D	0.999952	D	0.89917	1.0	D	0.91635	0.999	T	0.60326	-0.7285	10	0.72032	D	0.01	-17.0125	15.7264	0.77763	0.0:0.0:1.0:0.0	.	445	Q8NC74	CT151_HUMAN	W	445	ENSP00000252998:S445W	ENSP00000252998:S445W	S	-	2	0	C20orf151	60422468	1.000000	0.71417	0.925000	0.36789	0.764000	0.43329	4.769000	0.62300	2.238000	0.73509	0.561000	0.74099	TCG		0.736	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080029.1	NM_080833		4	13	0	0	0	1	0	4	13				
EME2	197342	broad.mit.edu	37	16	1823374	1823374	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr16:1823374G>C	ENST00000568449.1	+	1	167	c.146G>C	c.(145-147)aGa>aCa	p.R49T	EME2_ENST00000307394.7_Missense_Mutation_p.R49T|NME3_ENST00000219302.3_5'Flank|NME3_ENST00000563498.1_5'Flank|MRPS34_ENST00000177742.3_5'Flank|MRPS34_ENST00000397375.2_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	49					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GCCGCCGCGAGAGCCCGGGAC	0.756								Direct reversal of damage;Homologous recombination																														ENST00000307394.7																			0				central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						c.(145-147)aGa>aCa	Direct reversal of damage;Homologous recombination	essential meiotic structure-specific endonuclease subunit 2							3.0	4.0	4.0					16																	1823374		1317	3132	4449	SO:0001583	missense	197342				DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity	g.chr16:1823374G>C	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"""	610886	"""essential meiotic endonuclease 1 homolog 2 (S. pombe)"""			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.146G>C	16.37:g.1823374G>C	ENSP00000457353:p.Arg49Thr					EME2_ENST00000568449.1_Missense_Mutation_p.R49T	p.R49T			A4GXA9	EME2_HUMAN			1	146	+			49					Q8TEP2|Q96RY3	Missense_Mutation	SNP	ENST00000568449.1	37	c.146G>C	CCDS58404.1	.	.	.	.	.	.	.	.	.	.	G	9.983	1.228774	0.22542	.	.	ENSG00000197774	ENST00000307394;ENST00000454910	.	.	.	2.82	-3.52	0.04682	.	38.501900	0.00424	U	0.000064	T	0.17109	0.0411	.	.	.	0.09310	N	1	B	0.26002	0.139	B	0.19666	0.026	T	0.04268	-1.0964	8	0.20046	T	0.44	-0.4716	1.0402	0.01557	0.3296:0.1543:0.3597:0.1564	.	49	A4GXA9	EME2_HUMAN	T	49	.	ENSP00000303779:R49T	R	+	2	0	EME2	1763375	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	0.122000	0.15687	-0.634000	0.05538	-0.339000	0.08088	AGA		0.756	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		3	12	0	0	0	1	0	3	12				
ATG2A	23130	broad.mit.edu	37	11	64663989	64663989	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr11:64663989G>A	ENST00000377264.3	-	39	5484	c.5372C>T	c.(5371-5373)tCa>tTa	p.S1791L	ATG2A_ENST00000421419.2_Missense_Mutation_p.S1793L	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1791					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GGCTGTGGATGAGCCAAAGGA	0.637											OREG0004026	type=REGULATORY REGION|Gene=BC027481|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000421419.2																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(5377-5379)tCa>tTa		autophagy related 2A							48.0	49.0	49.0					11																	64663989		2201	4297	6498	SO:0001583	missense	23130						protein binding	g.chr11:64663989G>A		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.5372C>T	11.37:g.64663989G>A	ENSP00000366475:p.Ser1791Leu		OREG0004026	type=REGULATORY REGION|Gene=BC027481|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1078	ATG2A_ENST00000377264.3_Missense_Mutation_p.S1791L	p.S1793L			Q2TAZ0	ATG2A_HUMAN			39	5492	-			1791					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.5378C>T	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.899880	0.52227	.	.	ENSG00000110046	ENST00000421419;ENST00000377262;ENST00000377264	T;T	0.06768	3.26;3.26	3.86	3.86	0.44501	.	0.085063	0.48286	D	0.000193	T	0.06325	0.0163	N	0.08118	0	0.47245	D	0.999368	P;P	0.51933	0.915;0.949	B;P	0.45753	0.297;0.492	T	0.44590	-0.9318	10	0.54805	T	0.06	.	13.6902	0.62542	0.0:0.0:1.0:0.0	.	1791;1793	Q2TAZ0;Q2TAZ0-3	ATG2A_HUMAN;.	L	1793;184;1791	ENSP00000410522:S1793L;ENSP00000366475:S1791L	ENSP00000366473:S184L	S	-	2	0	ATG2A	64420565	1.000000	0.71417	0.896000	0.35187	0.190000	0.23558	8.843000	0.92142	2.169000	0.68431	0.561000	0.74099	TCA		0.637	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		7	38	0	0	0	1	0	7	38				
ARMC4	55130	broad.mit.edu	37	10	28272826	28272826	+	Silent	SNP	G	G	A	rs147124402		TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr10:28272826G>A	ENST00000305242.5	-	6	857	c.765C>T	c.(763-765)caC>caT	p.H255H	ARMC4_ENST00000537576.1_5'Flank|ARMC4_ENST00000545014.1_5'Flank|ARMC4_ENST00000480504.1_5'Flank|ARMC4_ENST00000239715.3_Silent_p.H112H	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	255					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TCTCACCATCGTGAGGTTTCA	0.393																																						ENST00000305242.5																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						c.(763-765)caC>caT		armadillo repeat containing 4		G		0,4406		0,0,2203	75.0	68.0	70.0		765	-4.8	0.0	10	dbSNP_134	70	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ARMC4	NM_018076.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		255/1045	28272826	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55130						binding	g.chr10:28272826G>A	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.765C>T	10.37:g.28272826G>A						ARMC4_ENST00000239715.3_Silent_p.H112H	p.H255H	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN			6	857	-			255					A8K906|B7Z7I1|Q9H0C0	Silent	SNP	ENST00000305242.5	37	c.765C>T	CCDS7157.1																																																																																				0.393	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		11	35	0	0	0	1	0	11	35				
ELF4	2000	broad.mit.edu	37	X	129205043	129205043	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chrX:129205043T>A	ENST00000308167.5	-	7	1160	c.781A>T	c.(781-783)Aac>Tac	p.N261Y	ELF4_ENST00000335997.7_Missense_Mutation_p.N261Y	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)											breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GTCTCATAGTTCATGTCAGGC	0.527			T	ERG	AML																																	ENST00000308167.5				Dom	yes		X	Xq26	2000	T	E74-like factor 4 (ets domain transcription factor)			L	ERG		AML		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(781-783)Aac>Tac		E74-like factor 4 (ets domain transcription factor)							216.0	182.0	193.0					X																	129205043		2203	4300	6503	SO:0001583	missense	2000				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:129205043T>A	U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.781A>T	X.37:g.129205043T>A	ENSP00000311280:p.Asn261Tyr					ELF4_ENST00000335997.7_Missense_Mutation_p.N261Y	p.N261Y	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN			7	1160	-			261						Missense_Mutation	SNP	ENST00000308167.5	37	c.781A>T	CCDS14617.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.302919	0.81136	.	.	ENSG00000102034	ENST00000335997;ENST00000308167	T;T	0.60920	0.15;0.15	5.27	5.27	0.74061	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (5);	0.000000	0.85682	D	0.000000	T	0.81336	0.4801	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.86015	0.1503	10	0.87932	D	0	.	12.0655	0.53586	0.0:0.0:0.0:1.0	.	261	Q99607	ELF4_HUMAN	Y	261	ENSP00000338608:N261Y;ENSP00000311280:N261Y	ENSP00000311280:N261Y	N	-	1	0	ELF4	129032724	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.996000	0.88334	1.752000	0.51891	0.380000	0.24917	AAC		0.527	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421		71	66	0	0	0	1	0	71	66				
SEC23IP	11196	broad.mit.edu	37	10	121658273	121658273	+	Silent	SNP	A	A	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr10:121658273A>T	ENST00000369075.3	+	2	570	c.498A>T	c.(496-498)tcA>tcT	p.S166S	SEC23IP_ENST00000543134.1_Intron	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	166	Interaction with SEC23A.|Pro-rich.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TCCCTCCTTCATATTTTGGGA	0.498																																						ENST00000369075.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36						c.(496-498)tcA>tcT		SEC23 interacting protein							81.0	75.0	77.0					10																	121658273		2203	4300	6503	SO:0001819	synonymous_variant	11196				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	g.chr10:121658273A>T	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.498A>T	10.37:g.121658273A>T						SEC23IP_ENST00000543134.1_Intron	p.S166S	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	2	570	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	166			Interaction with SEC23A.|Pro-rich.		D3DRD2|Q8IXH5|Q9BUK5	Silent	SNP	ENST00000369075.3	37	c.498A>T	CCDS7618.1																																																																																				0.498	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			25	67	0	0	0	1	0	25	67				
CEBPD	1052	broad.mit.edu	37	8	48650481	48650481	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr8:48650481T>C	ENST00000408965.3	-	1	1167	c.202A>G	c.(202-204)Atg>Gtg	p.M68V		NM_005195.3	NP_005186.2	P49716	CEBPD_HUMAN	CCAAT/enhancer binding protein (C/EBP), delta	68					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)	1		all_cancers(86;0.0782)|Lung NSC(58;0.00363)|all_epithelial(80;0.0042)|all_lung(54;0.00914)				ACGGCGGCCATGGAGTCGATG	0.711																																					GBM(26;131 685 21356 28665)	ENST00000408965.3																			0				lung(1)	1						c.(202-204)Atg>Gtg		CCAAT/enhancer binding protein (C/EBP), delta							17.0	21.0	20.0					8																	48650481		1948	4140	6088	SO:0001583	missense	1052				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:48650481T>C		CCDS6142.1	8p11.2-p11.1	2013-01-10				ENSG00000221869		"""basic leucine zipper proteins"""	1835	protein-coding gene	gene with protein product		116898				1840554, 1884998	Standard	NM_005195		Approved	CRP3, CELF, C/EBP-delta, NF-IL6-beta	uc003xqh.1	P49716		ENST00000408965.3:c.202A>G	8.37:g.48650481T>C	ENSP00000386165:p.Met68Val						p.M68V	NM_005195.3	NP_005186.2	P49716	CEBPD_HUMAN			1	1167	-		all_cancers(86;0.0782)|Lung NSC(58;0.00363)|all_epithelial(80;0.0042)|all_lung(54;0.00914)	68					Q14937|Q2M2X9	Missense_Mutation	SNP	ENST00000408965.3	37	c.202A>G	CCDS6142.1	.	.	.	.	.	.	.	.	.	.	T	15.75	2.924468	0.52653	.	.	ENSG00000221869	ENST00000408965;ENST00000542385	T	0.49432	0.78	2.72	1.41	0.22369	.	0.000000	0.64402	U	0.000001	T	0.40272	0.1110	L	0.61218	1.895	0.28587	N	0.909843	B	0.12013	0.005	B	0.12156	0.007	T	0.33033	-0.9884	10	0.41790	T	0.15	.	7.51	0.27569	0.1933:0.0:0.0:0.8067	.	68	P49716	CEBPD_HUMAN	V	68	ENSP00000386165:M68V	ENSP00000386165:M68V	M	-	1	0	CEBPD	48813034	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	1.417000	0.34770	0.226000	0.20979	0.248000	0.18094	ATG		0.711	CEBPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368448.2	NM_005195		13	45	0	0	0	1	0	13	45				
ZNF556	80032	broad.mit.edu	37	19	2878121	2878121	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr19:2878121G>C	ENST00000307635.2	+	4	1252	c.1165G>C	c.(1165-1167)Gag>Cag	p.E389Q	ZNF556_ENST00000586426.1_Missense_Mutation_p.E388Q	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	389					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACACAAACATGAGAGAAAGCA	0.448																																						ENST00000586426.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31						c.(1162-1164)Gag>Cag		zinc finger protein 556							85.0	86.0	86.0					19																	2878121		2203	4300	6503	SO:0001583	missense	80032				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2878121G>C	BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"""Zinc fingers, C2H2-type"", ""-"""	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.1165G>C	19.37:g.2878121G>C	ENSP00000302603:p.Glu389Gln					ZNF556_ENST00000307635.2_Missense_Mutation_p.E389Q	p.E388Q			Q9HAH1	ZN556_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1249	+			389					Q96GM3	Missense_Mutation	SNP	ENST00000307635.2	37	c.1162G>C	CCDS12097.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195694	0.58126	.	.	ENSG00000172000	ENST00000307635	T	0.46451	0.87	2.3	-4.59	0.03400	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13200	0.0320	N	0.04297	-0.235	0.09310	N	1	B	0.16166	0.016	B	0.14578	0.011	T	0.31779	-0.9931	9	0.02654	T	1	.	4.7975	0.13279	0.4933:0.3256:0.1811:0.0	.	389	Q9HAH1	ZN556_HUMAN	Q	389	ENSP00000302603:E389Q	ENSP00000302603:E389Q	E	+	1	0	ZNF556	2829121	0.000000	0.05858	0.001000	0.08648	0.819000	0.46315	-1.389000	0.02530	-0.743000	0.04784	0.407000	0.27541	GAG		0.448	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967		28	61	0	0	0	1	0	28	61				
GOLT1A	127845	broad.mit.edu	37	1	204170913	204170913	+	Silent	SNP	G	G	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr1:204170913G>A	ENST00000308302.3	-	3	329	c.144C>T	c.(142-144)ctC>ctT	p.L48L	GOLT1A_ENST00000475517.1_5'Flank	NM_198447.1	NP_940849.1			golgi transport 1A											kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			GGCCAATGATGAGGGACAGGC	0.587																																						ENST00000308302.3																			0				kidney(1)|lung(2)|urinary_tract(1)	4						c.(142-144)ctC>ctT		golgi transport 1A							106.0	110.0	109.0					1																	204170913		2203	4300	6503	SO:0001819	synonymous_variant	127845				protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		g.chr1:204170913G>A	BC058832	CCDS1443.1	1q32.1	2010-06-24	2010-06-24		ENSG00000174567	ENSG00000174567			24766	protein-coding gene	gene with protein product			"""golgi transport 1 homolog A (S. cerevisiae)"""			12477932	Standard	NM_198447		Approved	FLJ42654, CGI-141, YMR292W, GOT1, MGC62027	uc001has.1	Q6ZVE7	OTTHUMG00000036056	ENST00000308302.3:c.144C>T	1.37:g.204170913G>A							p.L48L	NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)		3	329	-	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		48						Silent	SNP	ENST00000308302.3	37	c.144C>T	CCDS1443.1																																																																																				0.587	GOLT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087887.1	NM_198447		9	114	0	0	0	1	0	9	114				
ZNF600	162966	broad.mit.edu	37	19	53270632	53270632	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr19:53270632C>A	ENST00000338230.3	-	3	644	c.377G>T	c.(376-378)aGa>aTa	p.R126I		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	126					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		AGGAGAAATTCTTTGGGATGT	0.388																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)	ENST00000338230.3																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(376-378)aGa>aTa		zinc finger protein 600							121.0	127.0	125.0					19																	53270632		2203	4300	6503	SO:0001583	missense	162966				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53270632C>A	U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.377G>T	19.37:g.53270632C>A	ENSP00000344791:p.Arg126Ile						p.R126I	NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)	3	644	-			126					Q6MZR0	Missense_Mutation	SNP	ENST00000338230.3	37	c.377G>T	CCDS12856.1	.	.	.	.	.	.	.	.	.	.	.	6.699	0.497593	0.12762	.	.	ENSG00000189190	ENST00000338230	T	0.08807	3.05	1.71	-0.938	0.10412	.	.	.	.	.	T	0.10121	0.0248	M	0.89658	3.05	0.09310	N	1	P	0.41041	0.736	B	0.30029	0.11	T	0.17653	-1.0362	9	0.49607	T	0.09	.	2.3425	0.04263	0.2921:0.5114:0.0:0.1965	.	126	Q6ZNG1	ZN600_HUMAN	I	126	ENSP00000344791:R126I	ENSP00000344791:R126I	R	-	2	0	ZNF600	57962444	0.870000	0.30015	0.002000	0.10522	0.015000	0.08874	0.695000	0.25527	-0.320000	0.08640	-0.901000	0.02856	AGA		0.388	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	NM_198457		21	101	1	0	1.28384e-07	1	1.3688e-07	21	101				
CLTC	1213	broad.mit.edu	37	17	57725621	57725621	+	Silent	SNP	T	T	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr17:57725621T>A	ENST00000269122.3	+	4	814	c.540T>A	c.(538-540)gcT>gcA	p.A180A	CLTC_ENST00000393043.1_Silent_p.A180A|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	180	Globular terminal domain.|WD40-like repeat 4.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TGGTGGGAGCTATGCAGCTAT	0.373			T	"""ALK, TFE3"""	"""ALCL, renal """																																	ENST00000269122.3				Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	"""ALK, TFE3"""		"""ALCL, renal """	CLTC/ALK(44)|CLTC/TFE3(2)	0				breast(2)|large_intestine(6)|ovary(1)	9						c.(538-540)gcT>gcA		clathrin, heavy chain (Hc)							166.0	152.0	157.0					17																	57725621		2203	4300	6503	SO:0001819	synonymous_variant	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57725621T>A	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.540T>A	17.37:g.57725621T>A						CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Silent_p.A180A	p.A180A	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN			4	814	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		180			Globular terminal domain.		D3DU00|Q6N0A0|Q86TF2	Silent	SNP	ENST00000269122.3	37	c.540T>A	CCDS32696.1																																																																																				0.373	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		27	64	0	0	0	1	0	27	64				
CCDC14	64770	broad.mit.edu	37	3	123633990	123633990	+	Missense_Mutation	SNP	G	G	C	rs147561384		TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr3:123633990G>C	ENST00000488653.2	-	13	2588	c.2498C>G	c.(2497-2499)tCt>tGt	p.S833C	CCDC14_ENST00000485727.1_Missense_Mutation_p.S633C|CCDC14_ENST00000489746.1_Missense_Mutation_p.S633C|CCDC14_ENST00000310351.4_Missense_Mutation_p.S673C|CCDC14_ENST00000483247.1_5'UTR|CCDC14_ENST00000433542.2_Missense_Mutation_p.S792C			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	833					substantia nigra development (GO:0021762)	centrosome (GO:0005813)				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		CTTTGTTGAAGAGGAACAGAT	0.423																																						ENST00000485727.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21						c.(1897-1899)tCt>tGt		coiled-coil domain containing 14							50.0	51.0	51.0					3																	123633990		2203	4300	6503	SO:0001583	missense	64770					centrosome		g.chr3:123633990G>C	AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.2498C>G	3.37:g.123633990G>C	ENSP00000420180:p.Ser833Cys					CCDC14_ENST00000483247.1_5'UTR|CCDC14_ENST00000489746.1_Missense_Mutation_p.S633C|CCDC14_ENST00000488653.2_Missense_Mutation_p.S833C|CCDC14_ENST00000433542.2_Missense_Mutation_p.S792C|CCDC14_ENST00000310351.4_Missense_Mutation_p.S673C	p.S633C			Q49A88	CCD14_HUMAN		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)	9	6490	-		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)	833					B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Missense_Mutation	SNP	ENST00000488653.2	37	c.1898C>G		.	.	.	.	.	.	.	.	.	.	G	6.523	0.464641	0.12402	.	.	ENSG00000175455	ENST00000488653;ENST00000310351;ENST00000485727;ENST00000489746;ENST00000433542;ENST00000409697	T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8	3.26	2.37	0.29283	.	1.168410	0.06265	N	0.694571	T	0.58495	0.2126	L	0.59436	1.845	0.09310	N	1	B;B;D	0.76494	0.1;0.1;0.999	B;B;D	0.64237	0.031;0.031;0.923	T	0.38045	-0.9679	10	0.72032	D	0.01	.	2.107	0.03694	0.1176:0.2914:0.4119:0.1792	.	833;792;674	Q49A88;Q49A88-6;Q49A88-5	CCD14_HUMAN;.;.	C	833;673;633;633;792;814	ENSP00000420180:S833C;ENSP00000312031:S673C;ENSP00000418002:S633C;ENSP00000418403:S633C;ENSP00000395706:S792C;ENSP00000386866:S814C	ENSP00000312031:S673C	S	-	2	0	CCDC14	125116680	0.000000	0.05858	0.012000	0.15200	0.121000	0.20230	-0.037000	0.12164	0.566000	0.29273	0.591000	0.81541	TCT		0.423	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_022757		16	15	0	0	0	1	0	16	15				
PCDH8	5100	broad.mit.edu	37	13	53421330	53421330	+	Silent	SNP	G	G	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr13:53421330G>C	ENST00000377942.3	-	1	1445	c.1242C>G	c.(1240-1242)gtC>gtG	p.V414V	PCDH8_ENST00000338862.4_Silent_p.V414V	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	414	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CCGAGGTGCTGACCAGGGCCA	0.746																																					GBM(36;25 841 9273 49207)	ENST00000377942.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36						c.(1240-1242)gtC>gtG		protocadherin 8							4.0	5.0	5.0					13																	53421330		1970	4038	6008	SO:0001819	synonymous_variant	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53421330G>C	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.1242C>G	13.37:g.53421330G>C						PCDH8_ENST00000338862.4_Silent_p.V414V	p.V414V	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	1445	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	414			Cadherin 4.		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Silent	SNP	ENST00000377942.3	37	c.1242C>G	CCDS9438.1																																																																																				0.746	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		6	13	0	0	0	1	0	6	13				
SENP6	26054	broad.mit.edu	37	6	76380320	76380320	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr6:76380320C>G	ENST00000447266.2	+	11	1754	c.1276C>G	c.(1276-1278)Caa>Gaa	p.Q426E	SENP6_ENST00000327284.8_Missense_Mutation_p.Q419E|SENP6_ENST00000541192.1_Missense_Mutation_p.Q22E|SENP6_ENST00000370014.3_Missense_Mutation_p.Q426E|SENP6_ENST00000370010.2_Missense_Mutation_p.Q419E	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	426					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)	p.Q426E(2)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AGTGTTTTCTCAAGAACCTCC	0.358																																						ENST00000370014.3																			2	Substitution - Missense(2)	p.Q426E(2)	cervix(2)	breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1276-1278)Caa>Gaa		SUMO1/sentrin specific peptidase 6							118.0	104.0	108.0					6																	76380320		1817	4080	5897	SO:0001583	missense	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76380320C>G		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.1276C>G	6.37:g.76380320C>G	ENSP00000402527:p.Gln426Glu					SENP6_ENST00000327284.8_Missense_Mutation_p.Q419E|SENP6_ENST00000447266.2_Missense_Mutation_p.Q426E|SENP6_ENST00000370010.2_Missense_Mutation_p.Q419E|SENP6_ENST00000541192.1_Missense_Mutation_p.Q22E	p.Q426E	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN			11	1895	+		all_hematologic(105;0.189)	426					A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	ENST00000447266.2	37	c.1276C>G	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	C	7.010	0.556519	0.13436	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000538088;ENST00000327284;ENST00000447266;ENST00000424947;ENST00000541192	T;T;T;T;T;T	0.30981	2.71;2.73;1.52;2.73;1.52;1.51	5.64	5.64	0.86602	.	0.481828	0.23614	N	0.046316	T	0.14527	0.0351	L	0.54323	1.7	0.26640	N	0.972304	P;B;B	0.34800	0.469;0.339;0.288	B;B;B	0.30572	0.117;0.08;0.086	T	0.37103	-0.9720	10	0.09338	T	0.73	-5.4078	19.7186	0.96134	0.0:1.0:0.0:0.0	.	419;426;419	Q9GZR1-2;Q9GZR1;F8W6D9	.;SENP6_HUMAN;.	E	419;426;275;419;426;316;22	ENSP00000359027:Q419E;ENSP00000359031:Q426E;ENSP00000321820:Q419E;ENSP00000402527:Q426E;ENSP00000391426:Q316E;ENSP00000441715:Q22E	ENSP00000321820:Q419E	Q	+	1	0	SENP6	76437040	1.000000	0.71417	0.995000	0.50966	0.194000	0.23727	5.359000	0.66074	2.659000	0.90383	0.655000	0.94253	CAA		0.358	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		23	13	0	0	0	1	0	23	13				
SYNJ1	8867	broad.mit.edu	37	21	34050994	34050994	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr21:34050994C>G	ENST00000322229.7	-	11	1470	c.1471G>C	c.(1471-1473)Gac>Cac	p.D491H	SYNJ1_ENST00000433931.2_Missense_Mutation_p.D530H|SYNJ1_ENST00000382499.2_Missense_Mutation_p.D530H|SYNJ1_ENST00000382491.3_Missense_Mutation_p.D494H|SYNJ1_ENST00000357345.3_Missense_Mutation_p.D491H			O43426	SYNJ1_HUMAN	synaptojanin 1	491					cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CGAGCTTTGTCAGCTAAATCA	0.368																																						ENST00000382499.2																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						c.(1588-1590)Gac>Cac		synaptojanin 1							90.0	86.0	88.0					21																	34050994		2203	4300	6503	SO:0001583	missense	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34050994C>G	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.1471G>C	21.37:g.34050994C>G	ENSP00000322234:p.Asp491His					SYNJ1_ENST00000357345.3_Missense_Mutation_p.D491H|SYNJ1_ENST00000433931.2_Missense_Mutation_p.D530H|SYNJ1_ENST00000382491.3_Missense_Mutation_p.D494H|SYNJ1_ENST00000322229.7_Missense_Mutation_p.D491H	p.D530H	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN			12	1587	-			491			Catalytic (Potential).		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	c.1588G>C	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	C	30	5.051337	0.93740	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236	T;T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66;1.66	5.99	5.99	0.97316	.	0.088508	0.85682	D	0.000000	T	0.60958	0.2309	M	0.78344	2.41	0.80722	D	1	D;P;D;P;D	0.89917	0.999;0.949;1.0;0.898;1.0	D;P;D;P;D	0.91635	0.962;0.642;0.998;0.642;0.999	T	0.61836	-0.6981	10	0.87932	D	0	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	494;530;491;491;491	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	H	494;491;530;530;491;494	ENSP00000371931:D494H;ENSP00000349903:D491H;ENSP00000371939:D530H;ENSP00000409667:D530H;ENSP00000322234:D491H;ENSP00000413649:D494H	ENSP00000322234:D491H	D	-	1	0	SYNJ1	32972865	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.840000	0.97914	0.655000	0.94253	GAC		0.368	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				12	27	0	0	0	1	0	12	27				
RYR3	6263	broad.mit.edu	37	15	33923445	33923445	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr15:33923445G>C	ENST00000389232.4	+	23	2888	c.2818G>C	c.(2818-2820)Gtt>Ctt	p.V940L	RYR3_ENST00000415757.3_Missense_Mutation_p.V940L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	940	4 X approximate repeats.				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)		CATTGCTCATGTTAACCCAGC	0.448																																						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.(2818-2820)Gtt>Ctt		ryanodine receptor 3							82.0	80.0	81.0					15																	33923445		1898	4121	6019	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33923445G>C		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.2818G>C	15.37:g.33923445G>C	ENSP00000373884:p.Val940Leu					RYR3_ENST00000415757.3_Missense_Mutation_p.V940L	p.V940L	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)	23	2888	+		all_lung(180;7.18e-09)	940			4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.2818G>C	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.012471	0.35511	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96365	-3.99;-3.99	5.09	3.17	0.36434	.	0.244896	0.33327	N	0.005022	D	0.92021	0.7472	L	0.40543	1.245	0.36020	D	0.838661	B;B	0.16396	0.005;0.017	B;B	0.18871	0.004;0.023	D	0.89731	0.3926	10	0.48119	T	0.1	.	6.2597	0.20893	0.1573:0.0:0.6955:0.1472	.	940;940	Q15413-2;Q15413	.;RYR3_HUMAN	L	940	ENSP00000373884:V940L;ENSP00000399610:V940L	ENSP00000354735:V940L	V	+	1	0	RYR3	31710737	1.000000	0.71417	0.867000	0.34043	0.923000	0.55619	2.626000	0.46460	1.370000	0.46153	0.563000	0.77884	GTT		0.448	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			6	4	0	0	0	1	0	6	4				
KRT5	3852	broad.mit.edu	37	12	52913804	52913804	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr12:52913804C>T	ENST00000252242.4	-	1	667	c.277G>A	c.(277-279)Ggc>Agc	p.G93S		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	93	Gly-rich.|Head.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		ccatagccgcctccagcacca	0.617																																						ENST00000252242.4																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35						c.(277-279)Ggc>Agc		keratin 5							94.0	107.0	103.0					12																	52913804		2203	4300	6503	SO:0001583	missense	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52913804C>T		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.277G>A	12.37:g.52913804C>T	ENSP00000252242:p.Gly93Ser						p.G93S	NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	667	-			93			Gly-rich.|Head.		Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	ENST00000252242.4	37	c.277G>A	CCDS8830.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.967058	0.34754	.	.	ENSG00000186081	ENST00000252242;ENST00000546577	T;T	0.52526	0.66;0.66	5.41	2.92	0.33932	.	0.239522	0.29767	N	0.011258	T	0.30479	0.0766	N	0.21240	0.645	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.17107	-1.0380	10	0.20046	T	0.44	.	10.3171	0.43743	0.0:0.8025:0.0:0.1975	.	93	P13647	K2C5_HUMAN	S	93	ENSP00000252242:G93S;ENSP00000449651:G93S	ENSP00000252242:G93S	G	-	1	0	KRT5	51200071	0.877000	0.30153	0.929000	0.37066	0.856000	0.48823	2.504000	0.45416	0.344000	0.23847	0.655000	0.94253	GGC		0.617	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			17	120	0	0	0	1	0	17	120				
ATG14	22863	broad.mit.edu	37	14	55848868	55848868	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr14:55848868G>T	ENST00000247178.5	-	6	724	c.689C>A	c.(688-690)aCc>aAc	p.T230N		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	230					autophagic vacuole assembly (GO:0000045)|endosome to lysosome transport (GO:0008333)|positive regulation of autophagy (GO:0010508)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|pre-autophagosomal structure membrane (GO:0034045)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						AGTGCTGGAGGTCATGGCACT	0.507																																						ENST00000247178.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						c.(688-690)aCc>aAc		autophagy related 14							131.0	114.0	120.0					14																	55848868		2203	4300	6503	SO:0001583	missense	22863				autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding	g.chr14:55848868G>T	AB020638	CCDS32087.1	14q22.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000126775	ENSG00000126775			19962	protein-coding gene	gene with protein product	"""Barkor"", ""beclin 1-associated autophagy-related key regulator"""	613515	"""KIAA0831"", ""ATG14 autophagy related 14 homolog (S. cerevisiae)"""	KIAA0831		18843052	Standard	NM_014924		Approved	ATG14L	uc001xbx.2	Q6ZNE5	OTTHUMG00000172129	ENST00000247178.5:c.689C>A	14.37:g.55848868G>T	ENSP00000247178:p.Thr230Asn						p.T230N	NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN			6	724	-			230					A6NJE4|A8K9U5|B7ZWP5|O94920|Q32MK7|Q32MK8	Missense_Mutation	SNP	ENST00000247178.5	37	c.689C>A	CCDS32087.1	.	.	.	.	.	.	.	.	.	.	g	29.0	4.969783	0.92855	.	.	ENSG00000126775	ENST00000247178	T	0.32272	1.46	5.63	5.63	0.86233	.	0.095627	0.64402	D	0.000001	T	0.41073	0.1143	N	0.19112	0.55	0.80722	D	1	D	0.64830	0.994	P	0.62184	0.899	T	0.30592	-0.9973	10	0.52906	T	0.07	-18.3652	19.6815	0.95965	0.0:0.0:1.0:0.0	.	230	Q6ZNE5	BAKOR_HUMAN	N	230	ENSP00000247178:T230N	ENSP00000247178:T230N	T	-	2	0	ATG14	54918621	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.382000	0.73167	2.649000	0.89929	0.650000	0.86243	ACC		0.507	ATG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416992.1	NM_014924		24	76	1	0	4.26978e-12	1	4.69029e-12	24	76				
GDPGP1	390637	broad.mit.edu	37	15	90784831	90784831	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr15:90784831G>C	ENST00000558017.1	+	4	1111	c.691G>C	c.(691-693)Gag>Cag	p.E231Q	GDPGP1_ENST00000329600.6_Missense_Mutation_p.E231Q	NM_001013657.2	NP_001013679.2	Q6ZNW5	GDPP1_HUMAN	GDP-D-glucose phosphorylase 1	231					glucose metabolic process (GO:0006006)	cytoplasm (GO:0005737)	GDP-D-glucose phosphorylase activity (GO:0080048)|guanyl-nucleotide exchange factor activity (GO:0005085)|hydrolase activity (GO:0016787)|nucleotide binding (GO:0000166)|nucleotidyltransferase activity (GO:0016779)										ACTGCCCGTGGAGCAGGCGCC	0.647																																						ENST00000558017.1																			0											c.(691-693)Gag>Cag		GDP-D-glucose phosphorylase 1							40.0	39.0	40.0					15																	90784831		2199	4298	6497	SO:0001583	missense	390637				glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity	g.chr15:90784831G>C		CCDS32327.1	15q26.1	2012-05-04	2012-05-04	2012-05-04	ENSG00000183208	ENSG00000183208	2.7.7.78		34360	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 58"""	C15orf58		21507950	Standard	NM_001013657		Approved		uc002bpc.3	Q6ZNW5		ENST00000558017.1:c.691G>C	15.37:g.90784831G>C	ENSP00000452793:p.Glu231Gln					GDPGP1_ENST00000329600.6_Missense_Mutation_p.E231Q	p.E231Q	NM_001013657.2	NP_001013679.2	Q6ZNW5	VTC2_HUMAN			4	1111	+			231						Missense_Mutation	SNP	ENST00000558017.1	37	c.691G>C	CCDS32327.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.773065	0.90108	.	.	ENSG00000183208	ENST00000329600	T	0.34667	1.35	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.64907	0.2641	M	0.84156	2.68	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.61987	-0.6949	10	0.35671	T	0.21	-23.7151	18.957	0.92662	0.0:0.0:1.0:0.0	.	231	Q6ZNW5	VTC2_HUMAN	Q	231	ENSP00000368405:E231Q	ENSP00000368405:E231Q	E	+	1	0	C15orf58	88585835	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	8.747000	0.91610	2.824000	0.97209	0.655000	0.94253	GAG		0.647	GDPGP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416973.1	NM_001013657		21	77	0	0	0	1	0	21	77				
UCMA	221044	broad.mit.edu	37	10	13276216	13276216	+	Missense_Mutation	SNP	C	C	T	rs372826471		TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr10:13276216C>T	ENST00000378681.3	-	1	115	c.43G>A	c.(43-45)Gtg>Atg	p.V15M	UCMA_ENST00000463405.2_Missense_Mutation_p.V15M	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	15					negative regulation of osteoblast differentiation (GO:0045668)	aggresome (GO:0016235)|extracellular space (GO:0005615)|perinuclear region of cytoplasm (GO:0048471)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						AGGAGCACCACGGCGGAGAAG	0.577																																						ENST00000378681.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						c.(43-45)Gtg>Atg		upper zone of growth plate and cartilage matrix associated		C	MET/VAL	0,4406		0,0,2203	80.0	58.0	66.0		43	-7.4	0.0	10		66	1,8599	1.2+/-3.3	0,1,4299	no	missense	UCMA	NM_145314.1	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	15/139	13276216	1,13005	2203	4300	6503	SO:0001583	missense	221044					proteinaceous extracellular matrix		g.chr10:13276216C>T	BC018068	CCDS31147.1	10p13	2009-03-25	2009-03-25	2009-03-25	ENSG00000165623	ENSG00000165623			25205	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 49"""	C10orf49		12477932	Standard	NM_145314		Approved		uc001imd.3	Q8WVF2	OTTHUMG00000017692	ENST00000378681.3:c.43G>A	10.37:g.13276216C>T	ENSP00000367952:p.Val15Met					UCMA_ENST00000463405.2_Missense_Mutation_p.V15M	p.V15M	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN			1	115	-			15						Missense_Mutation	SNP	ENST00000378681.3	37	c.43G>A	CCDS31147.1	.	.	.	.	.	.	.	.	.	.	C	6.559	0.471371	0.12461	0.0	1.16E-4	ENSG00000165623	ENST00000378681	.	.	.	5.16	-7.38	0.01407	.	1.609350	0.03214	N	0.176562	T	0.28333	0.0700	L	0.39898	1.24	0.09310	N	1	B	0.15473	0.013	B	0.11329	0.006	T	0.29852	-0.9998	9	0.66056	D	0.02	-1.361	2.6819	0.05096	0.1357:0.1353:0.4114:0.3176	.	15	Q8WVF2	UCMA_HUMAN	M	15	.	ENSP00000367952:V15M	V	-	1	0	UCMA	13316222	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.858000	0.04281	-0.977000	0.03537	-0.264000	0.10439	GTG		0.577	UCMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046843.2	NM_145314		4	26	0	0	0	1	0	4	26				
EHBP1	23301	broad.mit.edu	37	2	63092010	63092010	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr2:63092010C>G	ENST00000263991.5	+	10	1489	c.1007C>G	c.(1006-1008)cCt>cGt	p.P336R	EHBP1_ENST00000405289.1_Missense_Mutation_p.P301R|EHBP1_ENST00000431489.1_Missense_Mutation_p.P301R|EHBP1_ENST00000405015.3_Missense_Mutation_p.P301R|EHBP1_ENST00000354487.3_Missense_Mutation_p.P301R	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	336						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AAGGATTCTCCTCCCCAGTCT	0.368																																						ENST00000263991.5																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47						c.(1006-1008)cCt>cGt		EH domain binding protein 1							79.0	87.0	84.0					2																	63092010		2203	4300	6503	SO:0001583	missense	23301					cytoplasm|membrane		g.chr2:63092010C>G	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.1007C>G	2.37:g.63092010C>G	ENSP00000263991:p.Pro336Arg					EHBP1_ENST00000405289.1_Missense_Mutation_p.P301R|EHBP1_ENST00000354487.3_Missense_Mutation_p.P301R|EHBP1_ENST00000405015.3_Missense_Mutation_p.P301R|EHBP1_ENST00000431489.1_Missense_Mutation_p.P301R	p.P336R	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		10	1489	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		336					O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	ENST00000263991.5	37	c.1007C>G	CCDS1872.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540390	0.85917	.	.	ENSG00000115504	ENST00000405015;ENST00000405482;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	T;T;T;T;T;T	0.75154	-0.91;0.49;-0.91;-0.89;-0.89;-0.89	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.85305	0.5666	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.86220	0.1630	10	0.72032	D	0.01	.	19.2617	0.93970	0.0:1.0:0.0:0.0	.	301;301;336	Q8NDI1-2;Q8NDI1-3;Q8NDI1	.;.;EHBP1_HUMAN	R	301;301;301;336;301;301	ENSP00000384143:P301R;ENSP00000384829:P301R;ENSP00000403783:P301R;ENSP00000263991:P336R;ENSP00000346482:P301R;ENSP00000385524:P301R	ENSP00000263991:P336R	P	+	2	0	EHBP1	62945514	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.236000	0.65354	2.616000	0.88540	0.557000	0.71058	CCT		0.368	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		28	39	0	0	0	1	0	28	39				
TMEM80	283232	broad.mit.edu	37	11	700673	700673	+	Silent	SNP	G	G	C			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr11:700673G>C	ENST00000608174.1	+	4	404	c.267G>C	c.(265-267)ctG>ctC	p.L89L	TMEM80_ENST00000397512.3_Silent_p.L81L|TMEM80_ENST00000397510.3_Silent_p.L137L	NM_001042463.1|NM_174940.2	NP_001035928.2|NP_777600.3	Q96HE8	TMM80_HUMAN	transmembrane protein 80	89						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5		all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCTGTTTCTGATGGGGATTC	0.512																																						ENST00000397512.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5						c.(241-243)ctG>ctC		transmembrane protein 80							332.0	315.0	321.0					11																	700673		2203	4300	6503	SO:0001819	synonymous_variant	283232					integral to membrane		g.chr11:700673G>C		CCDS41587.1, CCDS41587.2, CCDS73231.1	11p15.5	2005-10-18			ENSG00000177042	ENSG00000177042			27453	protein-coding gene	gene with protein product						12477932	Standard	NM_001042463		Approved	FLJ38216	uc010qwi.2	Q96HE8	OTTHUMG00000133307	ENST00000608174.1:c.267G>C	11.37:g.700673G>C						TMEM80_ENST00000397510.2_Silent_p.L89L	p.L81L	NM_001042463.1|NM_174940.2	NP_001035928.1|NP_777600.2	Q96HE8	TMM80_HUMAN		all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	4	353	+		all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	89					A8MQ01|A8MXY8|B7WNU5	Silent	SNP	ENST00000608174.1	37	c.243G>C	CCDS41587.1																																																																																				0.512	TMEM80-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257104.2	NM_174940		124	199	0	0	0	1	0	124	199				
BEX2	84707	broad.mit.edu	37	X	102564538	102564538	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chrX:102564538C>G	ENST00000372677.3	-	3	634	c.367G>C	c.(367-369)Gag>Cag	p.E123Q	BEX2_ENST00000372674.1_Missense_Mutation_p.E123Q|BEX2_ENST00000536889.1_Missense_Mutation_p.E155Q	NM_032621.3	NP_116010.1	Q9BXY8	BEX2_HUMAN	brain expressed X-linked 2	123					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|lung(1)|ovary(1)	3						AGGCAAAACTCATCGTGATGG	0.483																																						ENST00000536889.1																			0				endometrium(1)|lung(1)|ovary(1)	3						c.(463-465)Gag>Cag		brain expressed X-linked 2							185.0	157.0	166.0					X																	102564538		2203	4300	6503	SO:0001583	missense	84707				apoptosis|cell cycle|regulation of apoptosis|regulation of cell cycle	cytoplasm|nucleus		g.chrX:102564538C>G	BC015522	CCDS14505.1, CCDS55467.1	Xq22	2014-03-21			ENSG00000133134	ENSG00000133134			30933	protein-coding gene	gene with protein product		300691				16221301	Standard	NM_001168399		Approved	DJ79P11.1	uc004eka.3	Q9BXY8	OTTHUMG00000022095	ENST00000372677.3:c.367G>C	X.37:g.102564538C>G	ENSP00000361762:p.Glu123Gln					BEX2_ENST00000372674.1_Missense_Mutation_p.E123Q|BEX2_ENST00000372677.3_Missense_Mutation_p.E123Q	p.E155Q	NM_001168399.1|NM_001168400.1	NP_001161871.1|NP_001161872.1	Q9BXY8	BEX2_HUMAN			3	820	-			123					B2R574|D3DXA2|F5H7H5|Q5JVV9	Missense_Mutation	SNP	ENST00000372677.3	37	c.463G>C	CCDS14505.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835239	0.71373	.	.	ENSG00000133134	ENST00000372677;ENST00000536889;ENST00000372674	T;T;T	0.10573	2.86;2.86;2.86	4.29	4.29	0.51040	.	0.000000	0.47852	D	0.000201	T	0.24160	0.0585	M	0.83012	2.62	0.33286	D	0.562894	P;D	0.54964	0.872;0.969	P;P	0.51193	0.659;0.662	T	0.43877	-0.9364	10	0.72032	D	0.01	.	11.106	0.48203	0.0:1.0:0.0:0.0	.	123;155	Q9BXY8;F5H7H5	BEX2_HUMAN;.	Q	123;155;123	ENSP00000361762:E123Q;ENSP00000442521:E155Q;ENSP00000361759:E123Q	ENSP00000361759:E123Q	E	-	1	0	BEX2	102451194	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	2.725000	0.47294	2.388000	0.81334	0.600000	0.82982	GAG		0.483	BEX2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057702.1	NM_032621		34	47	0	0	0	1	0	34	47				
B3GNT6	192134	broad.mit.edu	37	11	76751672	76751672	+	Silent	SNP	C	C	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr11:76751672C>T	ENST00000533140.1	+	2	1215	c.1077C>T	c.(1075-1077)ttC>ttT	p.F359F	B3GNT6_ENST00000421061.1_Silent_p.F237F|B3GNT6_ENST00000354301.5_Silent_p.F358F			O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	0					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						TGCACCGCTTCGCGCCCTACG	0.667																																						ENST00000533140.1																			0				central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						c.(1075-1077)ttC>ttT		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)							20.0	21.0	20.0					11																	76751672		2181	4274	6455	SO:0001819	synonymous_variant	192134				O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr11:76751672C>T	AB073740	CCDS53681.1	11q13.4	2013-02-19			ENSG00000198488	ENSG00000198488		"""Beta 3-glycosyltransferases"""	24141	protein-coding gene	gene with protein product		615315				11821425	Standard	NM_138706		Approved	B3Gn-T6	uc021qnp.1	Q6ZMB0		ENST00000533140.1:c.1077C>T	11.37:g.76751672C>T						B3GNT6_ENST00000421061.1_Silent_p.F237F|B3GNT6_ENST00000354301.5_Silent_p.F358F	p.F359F			Q6ZMB0	B3GN6_HUMAN			2	1215	+			358					Q4TTN0	Silent	SNP	ENST00000533140.1	37	c.1077C>T	CCDS53681.1																																																																																				0.667	B3GNT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382740.2	NM_138706		9	11	0	0	0	1	0	9	11				
NR3C2	4306	broad.mit.edu	37	4	149035254	149035254	+	Splice_Site	SNP	C	C	T			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr4:149035254C>T	ENST00000358102.3	-	8	3162		c.e8+1		NR3C2_ENST00000511528.1_Splice_Site|NR3C2_ENST00000344721.4_Splice_Site|NR3C2_ENST00000512865.1_Splice_Site|NR3C2_ENST00000355292.3_Splice_Site	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2						gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	GCTCTACTCACGTCATGCATG	0.498																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	GRCh37	CS070397	NR3C2	S		c.e8+1		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						120.0	102.0	108.0					4																	149035254		2203	4300	6503	SO:0001630	splice_region_variant	4306				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149035254C>T	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2799+1G>A	4.37:g.149035254C>T						NR3C2_ENST00000511528.1_Splice_Site|NR3C2_ENST00000358102.3_Splice_Site|NR3C2_ENST00000342437.4_Splice_Site|NR3C2_ENST00000344721.4_Splice_Site|NR3C2_ENST00000512865.1_Splice_Site				P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	8	3174	-	all_hematologic(180;0.151)							B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Splice_Site	SNP	ENST00000358102.3	37		CCDS3772.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011609	0.93346	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000511528	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8441	0.96702	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NR3C2	149254704	1.000000	0.71417	0.989000	0.46669	0.915000	0.54546	7.736000	0.84948	2.681000	0.91329	0.650000	0.86243	.		0.498	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1		Intron	19	12	0	0	0	1	0	19	12				
DNAH8	1769	broad.mit.edu	37	6	38890888	38890888	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr6:38890888C>G	ENST00000359357.3	+	70	10320	c.10066C>G	c.(10066-10068)Ctc>Gtc	p.L3356V	RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.L3573V|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.L3320V			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3356					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CGCCTCCACTCTCATCGATGG	0.448																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(10066-10068)Ctc>Gtc		dynein, axonemal, heavy chain 8							53.0	55.0	55.0					6																	38890888		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38890888C>G	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.10066C>G	6.37:g.38890888C>G	ENSP00000352312:p.Leu3356Val					DNAH8_ENST00000441566.1_Missense_Mutation_p.L3320V|RP1-207H1.3_ENST00000416948.1_RNA|RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.L3573V	p.L3356V							70	10320	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.10066C>G		.	.	.	.	.	.	.	.	.	.	C	17.93	3.508047	0.64410	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.80909	-1.43;-1.43;-1.43	5.33	5.33	0.75918	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.92133	0.7506	H	0.97783	4.075	0.58432	D	0.999999	D	0.71674	0.998	D	0.68353	0.957	D	0.94035	0.7304	10	0.87932	D	0	.	12.7072	0.57067	0.0:0.9242:0.0:0.0758	.	3356	Q96JB1	DYH8_HUMAN	V	3561;3561;3356;3320	ENSP00000333363:L3561V;ENSP00000352312:L3356V;ENSP00000402294:L3320V	ENSP00000333363:L3561V	L	+	1	0	DNAH8	38998866	1.000000	0.71417	0.962000	0.40283	0.240000	0.25518	4.896000	0.63222	2.644000	0.89710	0.655000	0.94253	CTC		0.448	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		14	34	0	0	0	1	0	14	34				
CRLF1	9244	broad.mit.edu	37	19	18710430	18710430	+	Silent	SNP	G	G	A	rs139923667		TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr19:18710430G>A	ENST00000392386.3	-	2	535	c.342C>T	c.(340-342)ctC>ctT	p.L114L		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	114	Ig-like C2-type.		L -> P (in CISS1; together with I-113). {ECO:0000269|PubMed:21326283}.		negative regulation of motor neuron apoptotic process (GO:2000672)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|ureteric bud development (GO:0001657)	CRLF-CLCF1 complex (GO:0097058)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						CGTGGCACACGAGGTTGTCCC	0.672																																						ENST00000392386.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						c.(340-342)ctC>ctT		cytokine receptor-like factor 1		G		1,4405	2.1+/-5.4	0,1,2202	33.0	33.0	33.0		342	-10.5	0.7	19	dbSNP_134	33	0,8600		0,0,4300	no	coding-synonymous	CRLF1	NM_004750.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		114/423	18710430	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9244				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity	g.chr19:18710430G>A	AF059293	CCDS32962.1	19p12	2013-02-11				ENSG00000006016		"""Fibronectin type III domain containing"""	2364	protein-coding gene	gene with protein product	"""cold-induced sweating syndrome"""	604237				9686600	Standard	NM_004750		Approved	CLF-1, CLF, CISS, CISS1	uc010ebt.2	O75462		ENST00000392386.3:c.342C>T	19.37:g.18710430G>A							p.L114L	NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN			2	535	-			114			Ig-like C2-type.		Q9UHH5	Silent	SNP	ENST00000392386.3	37	c.342C>T	CCDS32962.1																																																																																				0.672	CRLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465129.1			21	55	0	0	0	1	0	21	55				
RIMS2	9699	broad.mit.edu	37	8	105025701	105025701	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr8:105025701C>G	ENST00000507740.1	+	16	2754	c.2518C>G	c.(2518-2520)Cac>Gac	p.H840D	RIMS2_ENST00000262231.10_Missense_Mutation_p.H865D|RIMS2_ENST00000406091.3_Missense_Mutation_p.H1026D|RIMS2_ENST00000436393.2_Intron	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1088	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ACAGCCATATCACAGATCCAG	0.488										HNSCC(12;0.0054)																												ENST00000507740.1																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(2518-2520)Cac>Gac		regulating synaptic membrane exocytosis 2							87.0	88.0	88.0					8																	105025701		1974	4157	6131	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105025701C>G	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000507740.1:c.2518C>G	8.37:g.105025701C>G	ENSP00000423559:p.His840Asp	HNSCC(12;0.0054)				RIMS2_ENST00000262231.10_Missense_Mutation_p.H865D|RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000406091.3_Missense_Mutation_p.H1026D	p.H840D	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		16	2754	+			1088			C2 1.		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000507740.1	37	c.2518C>G	CCDS43761.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.386111	0.42308	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894	T;T;T;T;T	0.18174	2.23;2.67;2.37;2.49;2.39	5.58	5.58	0.84498	.	.	.	.	.	T	0.16938	0.0407	L	0.39898	1.24	0.80722	D	1	B;B;B;B	0.23540	0.087;0.06;0.014;0.05	B;B;B;B	0.23574	0.035;0.047;0.019;0.019	T	0.07790	-1.0754	9	0.12766	T	0.61	.	19.19	0.93663	0.0:1.0:0.0:0.0	.	1088;865;840;1026	Q9UQ26;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.	D	1026;1063;1026;1088;865;840;840	ENSP00000427018:H1026D;ENSP00000384892:H1026D;ENSP00000262231:H865D;ENSP00000423559:H840D;ENSP00000386228:H840D	ENSP00000262231:H865D	H	+	1	0	RIMS2	105094877	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.339000	0.79282	2.636000	0.89361	0.460000	0.39030	CAC		0.488	RIMS2-005	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367215.1	NM_001100117		21	63	0	0	0	1	0	21	63				
POSTN	10631	broad.mit.edu	37	13	38172859	38172859	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr13:38172859A>G	ENST00000379747.4	-	1	122	c.5T>C	c.(4-6)aTt>aCt	p.I2T	POSTN_ENST00000541179.1_Missense_Mutation_p.I2T|POSTN_ENST00000379749.4_Missense_Mutation_p.I2T|POSTN_ENST00000379742.4_Missense_Mutation_p.I2T|POSTN_ENST00000379743.4_Missense_Mutation_p.I2T|POSTN_ENST00000541481.1_Missense_Mutation_p.I2T	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	2					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TAAAAAGGGAATCATCTTGAG	0.428																																						ENST00000379747.4																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(4-6)aTt>aCt		periostin, osteoblast specific factor							140.0	137.0	138.0					13																	38172859		2203	4300	6503	SO:0001583	missense	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38172859A>G	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.5T>C	13.37:g.38172859A>G	ENSP00000369071:p.Ile2Thr					POSTN_ENST00000379742.4_Missense_Mutation_p.I2T|POSTN_ENST00000541481.1_Missense_Mutation_p.I2T|POSTN_ENST00000379743.4_Missense_Mutation_p.I2T|POSTN_ENST00000379749.4_Missense_Mutation_p.I2T|POSTN_ENST00000541179.1_Missense_Mutation_p.I2T	p.I2T	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	1	122	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	2					B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.5T>C	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	A	13.69	2.311018	0.40895	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	D;D;D;D;D;D	0.91124	-2.78;-2.74;-2.76;-2.79;-2.73;-2.77	6.02	0.753	0.18404	.	0.658537	0.16649	N	0.205285	D	0.84566	0.5500	L	0.47716	1.5	0.20821	N	0.999848	B;B;B;B;B;B;B	0.12630	0.003;0.006;0.003;0.006;0.006;0.006;0.003	B;B;B;B;B;B;B	0.14023	0.004;0.01;0.004;0.008;0.008;0.008;0.004	T	0.75431	-0.3320	10	0.87932	D	0	.	5.7396	0.18085	0.5724:0.2372:0.1905:0.0	.	2;2;2;2;2;2;2	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	T	2	ENSP00000437959:I2T;ENSP00000369073:I2T;ENSP00000369071:I2T;ENSP00000369067:I2T;ENSP00000369066:I2T;ENSP00000437953:I2T	ENSP00000369066:I2T	I	-	2	0	POSTN	37070859	1.000000	0.71417	0.766000	0.31476	0.636000	0.38137	2.159000	0.42339	0.165000	0.19558	0.528000	0.53228	ATT		0.428	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		16	39	0	0	0	1	0	16	39				
TFG	10342	broad.mit.edu	37	3	100447693	100447693	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr3:100447693C>A	ENST00000240851.4	+	4	746	c.406C>A	c.(406-408)Cct>Act	p.P136T	TFG_ENST00000476228.1_Missense_Mutation_p.P136T|TFG_ENST00000490574.1_Missense_Mutation_p.P136T|TFG_ENST00000418917.2_Missense_Mutation_p.P136T	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	136					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						CACCAATATTCCTGAAAATGG	0.378			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""																																	ENST00000240851.4				Dom	yes		3	3q11-q12	10342	T	TRK-fused gene			"""E, L"""	"""NTRK1, ALK"""		"""papillary thyroid, ALCL, NSCLC"""	TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	0				large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						c.(406-408)Cct>Act		TRK-fused gene							93.0	98.0	96.0					3																	100447693		2203	4300	6503	SO:0001583	missense	10342				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity	g.chr3:100447693C>A	BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.406C>A	3.37:g.100447693C>A	ENSP00000240851:p.Pro136Thr					TFG_ENST00000490574.1_Missense_Mutation_p.P136T|TFG_ENST00000476228.1_Missense_Mutation_p.P136T|TFG_ENST00000418917.2_Missense_Mutation_p.P136T	p.P136T	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN			4	746	+			136					D3DN49|G5E9V1|Q15656|Q969I2	Missense_Mutation	SNP	ENST00000240851.4	37	c.406C>A	CCDS2939.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418242	0.83449	.	.	ENSG00000114354	ENST00000418917;ENST00000490574;ENST00000240851;ENST00000476228;ENST00000443578;ENST00000463568;ENST00000487505	T;T;T;T;T;T	0.53640	0.73;0.73;0.73;0.73;0.61;0.63	5.14	5.14	0.70334	.	0.046970	0.85682	D	0.000000	T	0.67813	0.2933	M	0.61703	1.905	0.80722	D	1	D;B	0.89917	1.0;0.241	D;B	0.87578	0.998;0.121	T	0.69450	-0.5142	10	0.59425	D	0.04	-5.4065	18.9749	0.92731	0.0:1.0:0.0:0.0	.	136;136	G5E9V1;Q92734	.;TFG_HUMAN	T	136	ENSP00000397182:P136T;ENSP00000419960:P136T;ENSP00000240851:P136T;ENSP00000417952:P136T;ENSP00000419504:P136T;ENSP00000420797:P136T	ENSP00000240851:P136T	P	+	1	0	TFG	101930383	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	4.269000	0.58890	2.527000	0.85204	0.655000	0.94253	CCT		0.378	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353242.1	NM_006070		17	68	1	0	3.32936e-07	1	3.49824e-07	17	68				
SDHAP1	255812	broad.mit.edu	37	3	195711343	195711344	+	RNA	INS	-	-	T	rs200252504	byFrequency	TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr3:195711343_195711344insT	ENST00000427841.1	-	0	585					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		AAAGACTTCTCTGTGAGCTTTG	0.381													|||unknown(ALL_OTHER_Ns)	3992	0.797125	0.888	0.8112	5008	,	,		14038	0.8571		0.6809	False		,,,				2504	0.7219				Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			255812							g.chr3:195711343_195711344insT	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195711344_195711344dupT								NR_003264.2						0	585	-									RNA	INS	ENST00000427841.1	37																																																																																						0.381	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			3	6						3	6	---	---	---	---
RP11-608O21.1	0	broad.mit.edu	37	4	19815895	19815895	+	lincRNA	DEL	A	A	-			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr4:19815895delA	ENST00000511431.1	+	0	288																											TCTGGGCTGTaaaaaaaaaaa	0.413																																						ENST00000511431.1																			0																																																			0							g.chr4:19815895delA																													4.37:g.19815895delA														0	288	+									RNA	DEL	ENST00000511431.1	37																																																																																						0.413	RP11-608O21.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000359397.1			2	4						2	4	---	---	---	---
AGAP4	119016	broad.mit.edu	37	10	46342668	46342688	+	In_Frame_Del	DEL	GCTCCTGCCATCCTGTCCCCA	GCTCCTGCCATCCTGTCCCCA	-	rs200468982	byFrequency	TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENST00000448048.2	-	1	233_253	c.108_128delTGGGGACAGGATGGCAGGAGC	c.(106-129)gctggggacaggatggcaggagcg>gcg	p.36_43AGDRMAGA>A	AGAP4_ENST00000430779.2_5'UTR	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	36					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.G37_A43delGDRMAGA(1)		central_nervous_system(1)|lung(1)|ovary(1)	3						AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT	0.588																																						ENST00000448048.2																			1	Deletion - In frame(1)	p.G37_A43delGDRMAGA(1)	central_nervous_system(1)	central_nervous_system(1)|lung(1)|ovary(1)	3						c.(106-129)gcg>gc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 4				0,6		0,0,3						-2.8	0.0			1	28,40		13,2,19	no	coding	AGAP4	NM_133446.2		13,2,22	A1A1,A1R,RR		41.1765,0.0,37.8378				28,46				SO:0001651	inframe_deletion	119016				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	AF411132	CCDS7215.1	10q11.21	2014-06-19	2008-09-22	2008-09-22	ENSG00000188234	ENSG00000188234		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23459	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 1"", ""ArfGAP with GTPase domain, ankyrin repeat and PH domain 8"", ""centaurin, gamma-like family, member 5"""	CTGLF1, AGAP8, CTGLF5		12477932	Standard	XM_005271797		Approved	Em:AC012044.1, MRIP2	uc001jcx.4	Q96P64	OTTHUMG00000018088	ENST00000448048.2:c.108_128delTGGGGACAGGATGGCAGGAGC	10.37:g.46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENSP00000392513:p.Ala36_Gly42del					AGAP4_ENST00000430779.2_5'UTR	p.AGDRMAGA36del	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN			1	233_253	-			36						In_Frame_Del	DEL	ENST00000448048.2	37	c.108_128delTGGGGACAGGATGGCAGGAGC	CCDS7215.1																																																																																				0.588	AGAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047799.1	NM_133446		4	8						4	8	---	---	---	---
KRTAP5-7	440050	broad.mit.edu	37	11	71238403	71238405	+	In_Frame_Del	DEL	CGG	CGG	-	rs200724442	byFrequency	TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr11:71238403_71238405delCGG	ENST00000398536.4	+	1	91_93	c.57_59delCGG	c.(55-60)tccggc>tcc	p.G20del		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	20						keratin filament (GO:0045095)				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						GCTGTGGCTCCGGCTGTGGGGGC	0.66																																						ENST00000398536.4																			0				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						c.(55-60)tcc>tc		keratin associated protein 5-7																																				SO:0001651	inframe_deletion	440050					keratin filament		g.chr11:71238403_71238405delCGG	AB126076	CCDS41682.1	11q13.4	2008-02-05			ENSG00000244411	ENSG00000244411		"""Keratin associated proteins"""	23602	protein-coding gene	gene with protein product						15144888	Standard	NM_001012503		Approved	KRTAP5.7, KRTAP5-3	uc001oqq.1	Q6L8G8	OTTHUMG00000057570	ENST00000398536.4:c.57_59delCGG	11.37:g.71238403_71238405delCGG	ENSP00000417330:p.Gly20del						p.SG19del	NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN			1	91_93	+			19					B2RNM3|Q701N5	In_Frame_Del	DEL	ENST00000398536.4	37	c.57_59delCGG	CCDS41682.1																																																																																				0.660	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1			7	1341						7	1341	---	---	---	---
MPP5	64398	broad.mit.edu	37	14	67790455	67790456	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr14:67790455_67790456insA	ENST00000261681.4	+	14	2438_2439	c.1777_1778insA	c.(1777-1779)tatfs	p.Y593fs	MPP5_ENST00000555925.1_Frame_Shift_Ins_p.Y559fs|ATP6V1D_ENST00000553974.1_Intron	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	593	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		TTTGAAACCATATATTATCTTC	0.327																																						ENST00000261681.4																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18						c.(1777-1779)tatfs		membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)																																				SO:0001589	frameshift_variant	64398				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding	g.chr14:67790455_67790456insA	AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"""stardust"""	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.1778dupA	14.37:g.67790456_67790456dupA	ENSP00000261681:p.Tyr593fs					MPP5_ENST00000555925.1_Frame_Shift_Ins_p.Y559fs|ATP6V1D_ENST00000553974.1_Intron	p.Y593fs	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN		all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)	14	2438_2439	+			593			Guanylate kinase-like.		A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Frame_Shift_Ins	INS	ENST00000261681.4	37	c.1777_1778insA	CCDS9779.1																																																																																				0.327	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412498.1	NM_022474		11	50						11	50	---	---	---	---
RP11-166B2.1	0	broad.mit.edu	37	16	12021340	12021341	+	In_Frame_Ins	INS	-	-	TGG	rs375815092		TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr16:12021340_12021341insTGG	ENST00000399147.4	-	8	1082_1083	c.1083_1084insCCA	c.(1081-1086)gaatca>gaaCCAtca	p.361_362ES>EPS																	lung(2)	2						TCGGGTGGTGATTCCACCTCAG	0.609																																						ENST00000399147.4																			0				lung(2)	2						c.(1081-1086)gacacc>gaCCAcacc																																						SO:0001652	inframe_insertion	0							g.chr16:12021340_12021341insTGG																												ENST00000399147.4:c.1083_1084insCCA	16.37:g.12021340_12021341insTGG	ENSP00000382101:p.Glu361_Ser362insPro						p.361_362DT>DHT							8	1082_1083	-									In_Frame_Ins	INS	ENST00000399147.4	37	c.1083_1084insCCA																																																																																					0.609	RP11-166B2.1-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000388781.3			4	8						4	8	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578237	7578261	+	Frame_Shift_Del	DEL	CTCCACACGCAAATTTCCTTCCACT	CTCCACACGCAAATTTCCTTCCACT	-	rs587778719|rs587780072		TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr17:7578237_7578261delCTCCACACGCAAATTTCCTTCCACT	ENST00000269305.4	-	6	777_801	c.588_612delAGTGGAAGGAAATTTGCGTGTGGAG	c.(586-612)cgagtggaaggaaatttgcgtgtggagfs	p.RVEGNLRVE196fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.RVEGNLRVE196fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.RVEGNLRVE196fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.RVEGNLRVE196fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.RVEGNLRVE196fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.RVEGNLRVE196fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E204*(33)|p.E198*(27)|p.V197G(14)|p.G199E(11)|p.G199V(11)|p.V197M(10)|p.G199R(9)|p.V197E(8)|p.0?(8)|p.L201F(7)|p.N200fs*47(7)|p.V197L(6)|p.V203E(6)|p.R202S(6)|p.E198K(5)|p.G199fs*48(5)|p.?(5)|p.L201fs*46(4)|p.R196R(4)|p.A189_V197delAPPQHLIRV(4)|p.R202H(4)|p.R202C(4)|p.R202P(4)|p.E204D(4)|p.E105*(3)|p.V203L(3)|p.E111*(3)|p.V203fs*44(3)|p.V203V(3)|p.P191_E198>Q(3)|p.G199*(3)|p.R202L(3)|p.E66*(3)|p.E204fs*5(3)|p.E72*(3)|p.V197V(2)|p.E204fs*43(2)|p.E198Q(2)|p.V203M(2)|p.N200S(2)|p.N200I(2)|p.G67V(2)|p.N200fs*9(2)|p.G106V(2)|p.G199G(2)|p.V203fs*6(2)|p.E198fs*11(2)|p.E204K(2)|p.E204G(2)|p.E204E(2)|p.L201P(1)|p.L201S(1)|p.V197A(1)|p.L201L(1)|p.E204fs*39(1)|p.P59_E66>Q(1)|p.L201fs*8(1)|p.E198G(1)|p.E198_L201>V(1)|p.V65L(1)|p.E198fs*49(1)|p.N200T(1)|p.L201*(1)|p.V203A(1)|p.Y205fs*43(1)|p.E204_N210delEYLDDRN(1)|p.I195fs*50(1)|p.G199fs*42(1)|p.N200fs*4(1)|p.E198fs*7(1)|p.N200fs*8(1)|p.R202fs*9(1)|p.R202fs*8(1)|p.P98_E105>Q(1)|p.R202fs*7(1)|p.E111D(1)|p.G199A(1)|p.P191fs*6(1)|p.G67fs*>24(1)|p.V104L(1)|p.R202G(1)|p.E204fs*4(1)|p.V203_E204>V*(1)|p.R202R(1)|p.I195_G199delIRVEG(1)|p.E198_G199ins21(1)|p.E72D(1)|p.N200D(1)|p.L201_R202>FC(1)|p.V203_E204>LV(1)|p.G106fs*48(1)|p.E204A(1)|p.E204V(1)|p.E204Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGAT	0.556		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		313	Substitution - Missense(147)|Substitution - Nonsense(76)|Deletion - Frameshift(31)|Substitution - coding silent(15)|Insertion - Frameshift(14)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(6)|Complex - deletion inframe(5)|Complex - compound substitution(3)|Complex - frameshift(1)|Insertion - In frame(1)	p.E204*(33)|p.E198*(27)|p.V197G(14)|p.G199E(11)|p.G199V(11)|p.V197M(10)|p.G199R(9)|p.V197E(8)|p.0?(8)|p.L201F(7)|p.N200fs*47(7)|p.V197L(6)|p.V203E(6)|p.R202S(6)|p.E198K(5)|p.G199fs*48(5)|p.?(5)|p.L201fs*46(4)|p.R196R(4)|p.A189_V197delAPPQHLIRV(4)|p.R202H(4)|p.R202C(4)|p.R202P(4)|p.E204D(4)|p.E105*(3)|p.V203L(3)|p.E111*(3)|p.V203fs*44(3)|p.V203V(3)|p.P191_E198>Q(3)|p.G199*(3)|p.R202L(3)|p.E66*(3)|p.E204fs*5(3)|p.E72*(3)|p.V197V(2)|p.E204fs*43(2)|p.E198Q(2)|p.V203M(2)|p.N200S(2)|p.N200I(2)|p.G67V(2)|p.N200fs*9(2)|p.G106V(2)|p.G199G(2)|p.V203fs*6(2)|p.E198fs*11(2)|p.E204K(2)|p.E204G(2)|p.E204E(2)|p.L201P(1)|p.L201S(1)|p.V197A(1)|p.L201L(1)|p.E204fs*39(1)|p.P59_E66>Q(1)|p.L201fs*8(1)|p.E198G(1)|p.E198_L201>V(1)|p.V65L(1)|p.E198fs*49(1)|p.N200T(1)|p.L201*(1)|p.V203A(1)|p.Y205fs*43(1)|p.E204_N210delEYLDDRN(1)|p.I195fs*50(1)|p.G199fs*42(1)|p.N200fs*4(1)|p.E198fs*7(1)|p.N200fs*8(1)|p.R202fs*9(1)|p.R202fs*8(1)|p.P98_E105>Q(1)|p.R202fs*7(1)|p.E111D(1)|p.G199A(1)|p.P191fs*6(1)|p.G67fs*>24(1)|p.V104L(1)|p.R202G(1)|p.E204fs*4(1)|p.V203_E204>V*(1)|p.R202R(1)|p.I195_G199delIRVEG(1)|p.E198_G199ins21(1)|p.E72D(1)|p.N200D(1)|p.L201_R202>FC(1)|p.V203_E204>LV(1)|p.G106fs*48(1)|p.E204A(1)|p.E204V(1)|p.E204Q(1)	large_intestine(36)|breast(36)|lung(34)|upper_aerodigestive_tract(27)|haematopoietic_and_lymphoid_tissue(23)|urinary_tract(19)|skin(18)|oesophagus(17)|ovary(16)|central_nervous_system(15)|liver(12)|biliary_tract(8)|endometrium(7)|vulva(6)|soft_tissue(6)|prostate(6)|NS(5)|stomach(5)|peritoneum(4)|pancreas(4)|bone(4)|thymus(3)|autonomic_ganglia(1)|kidney(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM070297|CM994748	TP53	M		c.(586-612)cgfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578237_7578261delCTCCACACGCAAATTTCCTTCCACT	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.588_612delAGTGGAAGGAAATTTGCGTGTGGAG	17.37:g.7578237_7578261delCTCCACACGCAAATTTCCTTCCACT	ENSP00000269305:p.Arg196fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Frame_Shift_Del_p.RVEGNLRVE196fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.RVEGNLRVE196fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.RVEGNLRVE196fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.RVEGNLRVE196fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.RVEGNLRVE196fs	p.RVEGNLRVE196fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	720_744	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	196		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.588_612delAGTGGAAGGAAATTTGCGTGTGGAG	CCDS11118.1																																																																																				0.556	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		14	36						14	36	---	---	---	---
CHERP	10523	broad.mit.edu	37	19	16640581	16640583	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr19:16640581_16640583delTGC	ENST00000198939.6	-	8	1074_1076	c.1038_1040delGCA	c.(1036-1041)cagcaa>caa	p.346_347QQ>Q	CHERP_ENST00000546361.2_In_Frame_Del_p.335_336QQ>Q|CTD-3222D19.2_ENST00000409035.1_Intron					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						ctgctgctgttgctgctgctgct	0.67																																						ENST00000546361.2																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(1003-1008)caa>ca		calcium homeostasis endoplasmic reticulum protein																																				SO:0001651	inframe_deletion	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16640581_16640583delTGC	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.1038_1040delGCA	19.37:g.16640590_16640592delTGC	ENSP00000198939:p.Gln352del					CHERP_ENST00000198939.6_In_Frame_Del_p.QQ350del|CTD-3222D19.2_ENST00000409035.1_Intron	p.QQ339del	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN			8	1156_1158	-			339			Gln-rich.			In_Frame_Del	DEL	ENST00000198939.6	37	c.1005_1007delGCA																																																																																					0.670	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387		8	70						8	70	---	---	---	---
BCRP7	100133163	broad.mit.edu	37	22	18843723	18843724	+	Intron	INS	-	-	A	rs551366566|rs370464593		TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chr22:18843723_18843724insA	ENST00000412938.1	+	4	2337																											AGGGGCACCCCACGGCCTGGAG	0.619																																						ENST00000412938.1																			0																																																	SO:0001627	intron_variant	100133163							g.chr22:18843723_18843724insA																												ENST00000412938.1:c.2337+292->A	22.37:g.18843724_18843724dupA														0	2337	+									RNA	INS	ENST00000412938.1	37																																																																																						0.619	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			6	11						6	11	---	---	---	---
RP11-382F24.2	0	broad.mit.edu	37	X	55308335	55308336	+	RNA	INS	-	-	A			TCGA-F7-8298-01A-11D-2394-08	TCGA-F7-8298-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20abe2be-d3d3-4609-b76d-b01fbe43da7a	8e35c2e3-d8f1-4b6d-b761-9ff5e30e2dbd	g.chrX:55308335_55308336insA	ENST00000440645.2	+	0	135_136																											AGAAGAGGAGCCACCAACTGAA	0.441																																						ENST00000440645.1																			0																																																			0							g.chrX:55308335_55308336insA																													X.37:g.55308335_55308336insA														0	142_143	+									RNA	INS	ENST00000440645.2	37																																																																																						0.441	RP11-382F24.2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000056864.2			6	4						6	4	---	---	---	---
